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 isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample TAS1R3 83756 broad.mit.edu 37 1 1268732 1268732 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:1268732G>A uc010nyk.1 + 5 1573 c.1573G>A c.(1573-1575)GAG>AAG p.E525K NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 525 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146) Aspartame(DB00168) TGTGGACTGCGAGGCGGGCAG 0.692 NaN 0 0 0 0.009096 0 4 11 CCDC27 148870 broad.mit.edu 37 1 3670737 3670737 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:3670737G>A uc001akv.2 + 2 455 c.374G>A c.(373-375)CGA>CAA p.R125Q NM_152492 NP_689705 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 125 skin(1) 1 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) ATGGAACTTCGAAGGGTCTTC 0.592 NaN 0 0 0 0.00632 0 27 139 AJAP1 55966 broad.mit.edu 37 1 4772146 4772146 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:4772146G>A uc001alm.1 + 2 597 c.216G>A c.(214-216)GCG>GCA p.A72A AJAP1_uc001aln.2_Silent_p.A72A NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 72 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) GACAGCCAGCGCGGGTCCCGG 0.632 NaN 0 0 0 0.000602 0 5 17 SPATA21 374955 broad.mit.edu 37 1 16735685 16735685 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:16735685C>T uc001ayn.2 - 7 1084 c.601G>A c.(601-603)GAG>AAG p.E201K SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.E178K NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 201 Potential. calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) AGGCTCTGCTCTTCCGGCTCC 0.627 NaN 0 0 0 0.004672 0 3 36 PADI2 11240 broad.mit.edu 37 1 17413062 17413062 + Nonsense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:17413062G>C uc001baf.2 - 7 870 c.788C>G c.(787-789)TCA>TGA p.S263* PADI2_uc010ocm.1_Missense_Mutation_p.Q182E|PADI2_uc001bag.1_Nonsense_Mutation_p.S263* NM_007365 NP_031391 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 263 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity ovary(3)|pancreas(1)|central_nervous_system(1)|skin(1) 6 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) GACCAGGCCTGAGAAGCCCTC 0.652 NaN 0 0 0 0.001984 0 6 33 PQLC2 54896 broad.mit.edu 37 1 19653820 19653820 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:19653820G>A uc001bby.2 + 8 1070 c.718G>A c.(718-720)GAG>AAG p.E240K PQLC2_uc001bbz.2_Missense_Mutation_p.E175K|PQLC2_uc001bca.2_Missense_Mutation_p.E240K|PQLC2_uc001bcb.2_Missense_Mutation_p.E129K|PQLC2_uc001bcc.2_Missense_Mutation_p.E129K NM_017765 NP_060235 Q6ZP29 PQLC2_HUMAN PQ loop repeat containing 2 isoform 1 240 PQ-loop 2.|Extracellular (Potential). integral to membrane 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;0.00466)|BRCA - Breast invasive adenocarcinoma(304;1.89e-05)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAAAAACCCCGAGGAGGGCCA 0.637 NaN 0 0 0 0.003163 0 14 41 EIF4G3 8672 broad.mit.edu 37 1 21307591 21307591 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:21307591G>A uc001bec.2 - 4 416 c.160C>T c.(160-162)CTG>TTG p.L54L EIF4G3_uc010odj.1_Silent_p.L54L|EIF4G3_uc009vpz.2_Silent_p.L54L|EIF4G3_uc001bed.2_Silent_p.L54L|EIF4G3_uc001bef.2_Silent_p.L54L|EIF4G3_uc001bee.2_Silent_p.L61L|EIF4G3_uc001beg.2_Silent_p.L54L|EIF4G3_uc010odk.1_Silent_p.L54L|EIF4G3_uc001beh.2_Silent_p.L65L NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 54 interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GGCATGGGCAGATGGTTAACC 0.517 NaN 0 0 0 0.001855 0 13 45 ARID1A 8289 broad.mit.edu 37 1 27087921 27087921 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:27087921C>T uc001bmv.1 + 6 2581 c.2208C>T c.(2206-2208)ATC>ATT p.I736I ARID1A_uc001bmt.1_Silent_p.I736I|ARID1A_uc001bmu.1_Silent_p.I736I|ARID1A_uc001bmw.1_Silent_p.I353I NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 736 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CGGACAGCATCATGCATCCTT 0.547 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.004007 0 13 40 WASF2 10163 broad.mit.edu 37 1 27744801 27744801 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:27744801G>A uc001bof.1 - 4 604 c.388C>T c.(388-390)CCT>TCT p.P130S WASF2_uc010ofl.1_Missense_Mutation_p.P130S NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 130 actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) AGAGGGGGAGGAGTATCACAG 0.423 NaN 0 0 0 0.004482 0 9 28 OPRD1 4985 broad.mit.edu 37 1 29185686 29185686 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:29185686G>T uc001brf.1 + 2 690 c.448G>T c.(448-450)GTC>TTC p.V150F NM_000911 NP_000902 P41143 OPRD_HUMAN opioid receptor, delta 1 150 Cytoplasmic (Potential). immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CTACATCGCTGTCTGCCACCC 0.577 NaN 1 0 4.68919e-08 0.008291 4.93976e-08 10 40 MACF1 23499 broad.mit.edu 37 1 39797292 39797292 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:39797292C>G uc010oiu.1 + 1 483 c.352C>G c.(352-354)CAA>GAA p.Q118E MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc001cdb.1_Intron NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1683 Plectin 2. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GGCTTTTCATCAAGGCCTCAT 0.413 NaN 0 0 0 0.000602 0 5 551 MACF1 23499 broad.mit.edu 37 1 39827347 39827347 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:39827347C>T uc010oiu.1 + 13 8220 c.8089C>T c.(8089-8091)CAG>TAG p.Q2697* MACF1_uc010ois.1_Nonsense_Mutation_p.Q2195*|MACF1_uc001cda.1_Nonsense_Mutation_p.Q2103*|MACF1_uc001cdc.1_Nonsense_Mutation_p.Q1282*|MACF1_uc001cdb.1_Nonsense_Mutation_p.Q1282* NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4262 LRR 15. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCAACAGATCCAGGTGAGGAT 0.358 NaN 0 0 0 0.00361 0 299 46 TRIT1 54802 broad.mit.edu 37 1 40310268 40310268 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:40310268C>T uc010oiz.1 - 9 1065 c.1051G>A c.(1051-1053)GAT>AAT p.D351N TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.D47N|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.D105N|TRIT1_uc001ceh.3_Missense_Mutation_p.D105N|TRIT1_uc009vvv.2_Missense_Mutation_p.D184N|TRIT1_uc001cei.3_Missense_Mutation_p.D105N|TRIT1_uc001ceq.2_Missense_Mutation_p.D47N|TRIT1_uc001cek.2_Missense_Mutation_p.D47N|TRIT1_uc009vvx.2_RNA|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.D269N|TRIT1_uc001cen.2_Missense_Mutation_p.D105N|TRIT1_uc001ceo.2_Missense_Mutation_p.D105N|TRIT1_uc001cep.2_Missense_Mutation_p.D105N NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 351 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTCGAGACATCAGATACCTCT 0.433 NaN 0 0 0 0.001984 0 6 265 CCDC30 728621 broad.mit.edu 37 1 43011099 43011099 + Missense_Mutation SNP G G C rs12746482 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:43011099G>C uc009vwk.1 + 4 384 c.274G>C c.(274-276)GAA>CAA p.E92Q CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 92 Potential. 0 GCTTTCACAAGAATTTGCACA 0.289 NaN 0 0 0 0.000602 0 5 412 ELAVL4 1996 broad.mit.edu 37 1 50666507 50666507 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:50666507C>T uc001csb.2 + 7 1068 c.800C>T c.(799-801)TCT>TTT p.S267F ELAVL4_uc001cry.3_Intron|ELAVL4_uc001crz.3_Intron|ELAVL4_uc001csa.3_Intron|ELAVL4_uc001csc.3_Intron|ELAVL4_uc010omz.1_Intron NM_021952 NP_068771 P26378 ELAV4_HUMAN ELAV-like 4 isoform 1 267 mRNA processing AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding ovary(1)|pancreas(1) 2 GTCCCCCCTTCTGCTTGTCCC 0.522 NaN 0 0 0 0.00499 0 16 60 TTC39A 22996 broad.mit.edu 37 1 51778567 51778567 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:51778567C>G uc001csl.2 - 3 303 c.198G>C c.(196-198)GAG>GAC p.E66D TTC39A_uc001csk.2_Missense_Mutation_p.E66D|TTC39A_uc010ond.1_Missense_Mutation_p.E38D|TTC39A_uc010one.1_Missense_Mutation_p.E65D|TTC39A_uc010onf.1_Missense_Mutation_p.E69D|TTC39A_uc001csn.2_Missense_Mutation_p.E65D|TTC39A_uc001cso.1_Missense_Mutation_p.E62D|TTC39A_uc009vyy.1_Missense_Mutation_p.E38D NM_001080494 NP_001073963 Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A isoform 2 66 binding skin(1) 1 TGGCCTGCATCTCCAGGATGG 0.542 NaN 0 0 0 0.010818 0 32 136 FAM73A 374986 broad.mit.edu 37 1 78249010 78249010 + Missense_Mutation SNP C C G rs146841294 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:78249010C>G uc001dhx.2 + 2 201 c.169C>G c.(169-171)CTG>GTG p.L57V FAM73A_uc010ork.1_Missense_Mutation_p.L57V|FAM73A_uc010orl.1_Intron NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 57 integral to membrane ovary(1) 1 Colorectal(170;0.226) TGATCTTCCTCTGACTTGGTA 0.358 NaN 0 0 0 0.002299 0 21 325 LPHN2 23266 broad.mit.edu 37 1 82456581 82456581 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:82456581C>G uc001dit.3 + 21 4145 c.3964C>G c.(3964-3966)CTT>GTT p.L1322V LPHN2_uc001dis.2_Missense_Mutation_p.L302V|LPHN2_uc001diu.2_Missense_Mutation_p.L1322V|LPHN2_uc001div.2_3'UTR|LPHN2_uc009wcd.2_3'UTR|LPHN2_uc001diw.2_Missense_Mutation_p.L949V NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 1378 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) CATGCCCAATCTTAGAGACTC 0.473 NaN 0 0 0 0.004672 0 3 88 CLCA1 1179 broad.mit.edu 37 1 86954697 86954697 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:86954697C>T uc001dlt.2 + 8 1330 c.1201C>T c.(1201-1203)CCA>TCA p.P401S CLCA1_uc001dls.1_Missense_Mutation_p.P340S NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 401 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GAAGAAATATCCAACTGATGG 0.433 NaN 0 0 0 0.011902 0 43 50 CLCA1 1179 broad.mit.edu 37 1 86961284 86961284 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:86961284G>A uc001dlt.2 + 12 2168 c.2039G>A c.(2038-2040)GGA>GAA p.G680E NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 680 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCTCTGGGAGGAGTTAACGCA 0.463 NaN 0 0 0 0.008291 0 9 74 BRDT 676 broad.mit.edu 37 1 92446495 92446495 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:92446495G>A uc001dok.3 + 10 1859 c.1510G>A c.(1510-1512)GAA>AAA p.E504K BRDT_uc001dol.3_Missense_Mutation_p.E504K|BRDT_uc010osz.1_Missense_Mutation_p.E508K|BRDT_uc009wdf.2_Missense_Mutation_p.E431K|BRDT_uc010ota.1_Missense_Mutation_p.E458K|BRDT_uc010otb.1_Missense_Mutation_p.E458K|BRDT_uc001dom.3_Missense_Mutation_p.E504K NM_207189 NP_997072 Q58F21 BRDT_HUMAN testis-specific bromodomain protein 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity stomach(2)|ovary(1)|lung(1) 4 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) ATCTGAAGATGAAGATAATGC 0.333 NaN 0 0 0 0.006214 0 9 82 VANGL1 81839 broad.mit.edu 37 1 116206759 116206759 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:116206759G>C uc001efv.1 + 4 953 c.682G>C c.(682-684)GAT>CAT p.D228H VANGL1_uc009wgy.1_Missense_Mutation_p.D226H|VANGL1_uc001efw.1_Missense_Mutation_p.D228H NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 228 Helical; Name=4; (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CTCCCTTGTGGATGCCCTCCT 0.557 NaN 0 0 0 0.010504 0 18 67 MTMR11 10903 broad.mit.edu 37 1 149905798 149905798 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:149905798C>G uc001etl.3 - 8 972 c.721G>C c.(721-723)GAC>CAC p.D241H MTMR11_uc001etm.1_Missense_Mutation_p.D169H|MTMR11_uc010pbm.1_Missense_Mutation_p.D213H|MTMR11_uc010pbn.1_Missense_Mutation_p.D83H NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 241 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ACCTCACTGTCCAGAATTCGG 0.493 NaN 0 0 0 0.00361 0 55 194 OTUD7B 56957 broad.mit.edu 37 1 149916075 149916075 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:149916075C>T uc001etn.2 - 12 2569 c.2213G>A c.(2212-2214)CGA>CAA p.R738Q NM_020205 NP_064590 Q6GQQ9 OTU7B_HUMAN zinc finger protein Cezanne 738 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) GGGGTAGGGTCGCCCAGGAGG 0.642 NaN 0 0 0 0.00278 0 22 58 ANP32E 81611 broad.mit.edu 37 1 150193030 150193030 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:150193030C>T uc001etw.2 - 7 1140 c.770G>A c.(769-771)CGA>CAA p.R257Q ANP32E_uc010pbt.1_RNA|ANP32E_uc010pbu.1_Missense_Mutation_p.R209Q|ANP32E_uc010pbv.1_Missense_Mutation_p.R216Q|ANP32E_uc001etv.3_Missense_Mutation_p.R256Q NM_030920 NP_112182 Q9BTT0 AN32E_HUMAN acidic (leucine-rich) nuclear phosphoprotein 32 257 Asp/Glu-rich (highly acidic). cytoplasmic membrane-bounded vesicle|nucleus phosphatase inhibitor activity 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) TTCAGCATCTCGTTTCCTCTT 0.383 NaN 0 0 0 0.00874 0 38 317 C1orf51 148523 broad.mit.edu 37 1 150259343 150259343 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:150259343G>A uc001euh.2 + 6 1271 c.1135G>A c.(1135-1137)GAT>AAT p.D379N C1orf51_uc001eui.2_Missense_Mutation_p.D291N|C1orf51_uc001euj.2_Missense_Mutation_p.D379N NM_144697 NP_653298 Q8N365 CA051_HUMAN hypothetical protein LOC148523 379 0 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AGTTGCTGCTGATGCTCATCT 0.458 NaN 0 0 0 0.002299 0 20 74 THEM4 117145 broad.mit.edu 37 1 151861806 151861806 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:151861806G>A uc001ezj.1 - 3 509 c.330C>T c.(328-330)CTC>CTT p.L110L THEM4_uc001ezk.1_RNA NM_053055 NP_444283 Q5T1C6 THEM4_HUMAN thioesterase superfamily member 4 110 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|ruffle membrane 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTCTGGTGAAGAGCTGGGCCT 0.438 NaN 0 0 0 0.006214 0 10 116 HRNR 388697 broad.mit.edu 37 1 152192570 152192570 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:152192570C>T uc001ezt.1 - 3 1611 c.1535G>A c.(1534-1536)GGT>GAT p.G512D NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 512 5. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GGAAGATGAACCTGCACTAGA 0.572 NaN 0 0 0 0.00361 0 120 236 DENND4B 9909 broad.mit.edu 37 1 153906268 153906268 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:153906268C>G uc001fdd.1 - 20 3422 c.3021G>C c.(3019-3021)CTG>CTC p.L1007L uc001fdc.1_Intron NM_014856 NP_055671 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 1007 ovary(1) 1 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCTCCCCTGTCAGGCTCAGGT 0.647 NaN 0 0 0 0.00308 0 8 13 UBAP2L 9898 broad.mit.edu 37 1 154223614 154223614 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:154223614G>C uc001fep.3 + 13 1478 c.1311G>C c.(1309-1311)GAG>GAC p.E437D UBAP2L_uc009wot.2_Missense_Mutation_p.E437D|UBAP2L_uc010pek.1_Missense_Mutation_p.E429D|UBAP2L_uc010pel.1_Missense_Mutation_p.E447D|UBAP2L_uc010pen.1_Missense_Mutation_p.E351D NM_014847 NP_055662 Q14157 UBP2L_HUMAN ubiquitin associated protein 2-like isoform a 437 binding of sperm to zona pellucida protein binding ovary(1)|central_nervous_system(1) 2 all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCTTCAGGAGAAGTCACCTG 0.532 NaN 0 0 0 0.004007 0 15 128 ASH1L 55870 broad.mit.edu 37 1 155319163 155319163 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:155319163C>T uc009wqq.2 - 19 8004 c.7524G>A c.(7522-7524)GTG>GTA p.V2508V RAG1AP1_uc010pey.1_Intron|ASH1L_uc001fkt.2_Silent_p.V2503V|MIR555_hsa-mir-555|MI0003561_5'Flank NM_018489 NP_060959 Q9NR48 ASH1L_HUMAN absent, small, or homeotic 1-like 2508 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 11 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CAAAAGCTTCCACTGTCTTAT 0.383 NaN 0 0 0 0.002299 0 24 58 KIAA0907 22889 broad.mit.edu 37 1 155896471 155896471 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:155896471G>A uc001fmi.1 - 6 701 c.677C>T c.(676-678)TCA>TTA p.S226L KIAA0907_uc001fmj.1_Missense_Mutation_p.S226L|KIAA0907_uc009wrk.1_Intron|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S226L|KIAA0907_uc001fmm.2_Intron|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.2_Missense_Mutation_p.S226L NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 226 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) ACATACCCCTGACTGGAAGGG 0.363 NaN 0 0 0 0.008361 0 23 59 MEF2D 4209 broad.mit.edu 37 1 156446809 156446809 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:156446809G>A uc001fpc.2 - 7 1240 c.850C>T c.(850-852)CAC>TAC p.H284Y MEF2D_uc001fpb.2_Missense_Mutation_p.H284Y|MEF2D_uc001fpd.2_Missense_Mutation_p.H284Y|MEF2D_uc001fpe.1_Missense_Mutation_p.H284Y|MEF2D_uc009wsa.2_RNA NM_005920 NP_005911 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 284 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity ovary(1) 1 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTACCAAGTGATGCATTAAC 0.607 NaN 0 0 0 0.001984 0 7 61 CD1A 909 broad.mit.edu 37 1 158226807 158226807 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:158226807G>A uc001frt.2 + 4 1369 c.836G>A c.(835-837)CGG>CAG p.R279Q NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 279 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CTGTCCTGTCGGGTGAAGCAC 0.612 NaN 0 0 0 0.001368 0 13 50 COPA 1314 broad.mit.edu 37 1 160282929 160282929 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:160282929G>T uc009wti.2 - 10 1265 c.871C>A c.(871-873)CAT>AAT p.H291N COPA_uc001fvv.3_Missense_Mutation_p.H291N|COPA_uc009wtj.1_Missense_Mutation_p.H237N NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 291 COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction hormone activity|structural molecule activity ovary(1)|skin(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) AAACGATCATGGTCTCTGCGG 0.403 NaN 1 0 6.40141e-05 0.010729 6.5925e-05 11 53 FCGR3B 2215 broad.mit.edu 37 1 161600882 161600882 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:161600882C>T uc009wul.2 - 1 277 c.3G>A c.(1-3)ATG>ATA p.M1I NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 1 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GCAGCTGCCACATGATGCCAC 0.542 NaN 0 0 0 0.004482 0 7 27 ZBTB37 84614 broad.mit.edu 37 1 173839952 173839952 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:173839952C>T uc009wwp.1 + 3 865 c.589C>T c.(589-591)CAG>TAG p.Q197* GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Nonsense_Mutation_p.Q197*|ZBTB37_uc001gjq.3_Nonsense_Mutation_p.Q197*|ZBTB37_uc001gjr.2_Nonsense_Mutation_p.Q197* NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CACCAGCCCTCAGATCATTGA 0.552 NaN 0 0 0 0.00245 0 12 43 ZBTB37 84614 broad.mit.edu 37 1 173839957 173839957 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:173839957C>T uc009wwp.1 + 3 870 c.594C>T c.(592-594)ATC>ATT p.I198I GAS5_uc001gjj.2_5'Flank|GAS5_uc001gjk.2_5'Flank|ZBTB37_uc001gjp.1_Silent_p.I198I|ZBTB37_uc001gjq.3_Silent_p.I198I|ZBTB37_uc001gjr.2_Silent_p.I198I NM_001122770 NP_001116242 Q5TC79 ZBT37_HUMAN zinc finger and BTB domain containing 37 isoform 198 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCCTCAGATCATTGAACCAA 0.557 NaN 0 0 0 0.001855 0 11 40 XPR1 9213 broad.mit.edu 37 1 180775291 180775291 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:180775291G>C uc001goi.2 + 5 733 c.541G>C c.(541-543)GAG>CAG p.E181Q XPR1_uc009wxm.2_Missense_Mutation_p.E181Q|XPR1_uc009wxn.2_Missense_Mutation_p.E181Q NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 181 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 GGCTCACGTAGAGGTGGCCCC 0.398 NaN 0 0 0 0.004482 0 9 71 ASPM 259266 broad.mit.edu 37 1 197112229 197112229 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:197112229C>G uc001gtu.2 - 3 1410 c.1153G>C c.(1153-1155)GAG>CAG p.E385Q ASPM_uc001gtv.2_Missense_Mutation_p.E385Q|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 385 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TTAACTGACTCTGATTCTAGA 0.289 NaN 0 0 0 0.001855 0 11 58 RAB7L1 8934 broad.mit.edu 37 1 205741642 205741642 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:205741642G>C uc001hdf.3 - 3 518 c.178C>G c.(178-180)CAG>GAG p.Q60E RAB7L1_uc009xbp.2_5'UTR|RAB7L1_uc001hde.3_Missense_Mutation_p.Q60E|RAB7L1_uc010prr.1_Intron|RAB7L1_uc009xbq.2_Intron NM_003929 NP_003920 O14966 RAB7L_HUMAN RAB7, member RAS oncogene family-like 1 isoform 60 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity|protein binding ovary(1) 1 Breast(84;0.0799) BRCA - Breast invasive adenocarcinoma(75;0.0194) TCCCACAGCTGAAGCCGCACT 0.383 NaN 0 0 0 0.00361 0 92 102 USH2A 7399 broad.mit.edu 37 1 216243607 216243607 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:216243607C>T uc001hku.1 - 30 6272 c.5885G>A c.(5884-5886)AGA>AAA p.R1962K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1962 Extracellular (Potential).|Fibronectin type-III 6. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTGCGGACTCTTGAGGGAGT 0.428 NaN HNSCC(13;0.011) 0 0 0 0.001168 0 6 44 TLR5 7100 broad.mit.edu 37 1 223286345 223286345 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:223286345C>T uc001hnv.1 - 4 475 c.29G>A c.(28-30)GGA>GAA p.G10E TLR5_uc001hnw.1_Missense_Mutation_p.G10E NM_003268 NP_003259 O60602 TLR5_HUMAN toll-like receptor 5 precursor 10 cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity ovary(2)|lung(1)|skin(1) 4 GBM - Glioblastoma multiforme(131;0.0851) GAGCACCACTCCTAGGAGAAG 0.517 NaN 0 0 0 0.009096 0 4 29 ACTA1 58 broad.mit.edu 37 1 229568092 229568092 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:229568092C>T uc001htm.2 - 4 646 c.541G>A c.(541-543)GAC>AAC p.D181N NM_001100 NP_001091 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 181 D -> H (in NEM3).|D -> G (in NEM3).|D -> N (in NEM3). muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton 0 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) CCCGCCAGGTCCAGGCGCATG 0.577 NaN 0 0 0 0.000602 0 5 35 ERO1LB 56605 broad.mit.edu 37 1 236390014 236390014 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:236390014G>C uc001hxt.2 - 11 994 c.738C>G c.(736-738)TTC>TTG p.F246L NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN endoplasmic reticulum oxidoreductin 1-Lbeta 246 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) TAAGCTTATAGAAGACTCTTT 0.318 NaN 0 0 0 0.010504 0 21 59 ZNF695 57116 broad.mit.edu 37 1 247150452 247150452 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:247150452C>G uc009xgu.2 - 4 1510 c.1365G>C c.(1363-1365)AAG>AAC p.K455N ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 455 C2H2-type 11. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TATGAATTCTCTTATGATTAG 0.373 NaN 0 0 0 0.008361 0 30 22 PITRM1 10531 broad.mit.edu 37 10 3205933 3205933 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:3205933G>A uc010qah.1 - 6 711 c.679C>T c.(679-681)CAC>TAC p.H227Y PITRM1_uc001igr.1_Missense_Mutation_p.H259Y|PITRM1_uc001igt.1_Missense_Mutation_p.H259Y|PITRM1_uc001igu.1_Missense_Mutation_p.H251Y|PITRM1_uc010qai.1_Missense_Mutation_p.H230Y|PITRM1_uc001igw.1_Missense_Mutation_p.H259Y|uc001igx.1_5'Flank E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 227 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 TTGCTTGGGTGATAGTGAGTG 0.463 NaN 0 0 0 0.00499 0 16 76 PITRM1 10531 broad.mit.edu 37 10 3205948 3205948 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:3205948G>A uc010qah.1 - 6 696 c.664C>T c.(664-666)CAT>TAT p.H222Y PITRM1_uc001igr.1_Missense_Mutation_p.H254Y|PITRM1_uc001igt.1_Missense_Mutation_p.H254Y|PITRM1_uc001igu.1_Missense_Mutation_p.H246Y|PITRM1_uc010qai.1_Missense_Mutation_p.H225Y|PITRM1_uc001igw.1_Missense_Mutation_p.H254Y|uc001igx.1_5'Flank E7ES23 E7ES23_HUMAN SubName: Full=cDNA FLJ54065, moderately similar to Mus musculus pitrilysin metallepetidase 1 (Pitrm1), mRNA; 222 proteolysis metalloendopeptidase activity|zinc ion binding pancreas(1) 1 TGAGTGGCATGAAACTGCTTA 0.458 NaN 0 0 0 0.004007 0 15 72 SVIL 6840 broad.mit.edu 37 10 29820209 29820209 + Nonsense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:29820209G>C uc001iut.1 - 10 2771 c.2018C>G c.(2017-2019)TCA>TGA p.S673* SVIL_uc001iuu.1_Nonsense_Mutation_p.S279* NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 673 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TTCTGAATGTGAAGTGCACCT 0.333 NaN 0 0 0 0.010729 0 11 51 BMS1 9790 broad.mit.edu 37 10 43297618 43297618 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:43297618G>A uc001jaj.2 + 13 2639 c.2281G>A c.(2281-2283)GGA>AGA p.G761R NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 761 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 CTTCGTGACTGGAAAGTGGGA 0.413 NaN 0 0 0 0.001168 0 5 36 MAPK8 5599 broad.mit.edu 37 10 49632597 49632597 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:49632597C>T uc009xnz.2 + 7 881 c.657C>T c.(655-657)ATC>ATT p.I219I MAPK8_uc001jgl.2_Silent_p.I219I|MAPK8_uc001jgm.2_Silent_p.I219I|MAPK8_uc001jgo.2_Silent_p.I219I|MAPK8_uc009xoa.2_Intron|MAPK8_uc001jgn.2_Silent_p.I219I|MAPK8_uc010qgk.1_Silent_p.I219I|MAPK8_uc001jgp.2_Intron|MAPK8_uc001jgq.2_Intron NM_139047 NP_620635 P45983 MK08_HUMAN mitogen-activated protein kinase 8 isoform JNK1 219 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding central_nervous_system(3)|lung(2)|stomach(1)|ovary(1)|kidney(1) 8 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) GAGAAATGATCAAAGGTGGTG 0.338 NaN 0 0 0 0.001168 0 6 66 ADAMTS14 140766 broad.mit.edu 37 10 72489913 72489913 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:72489913G>A uc001jrh.2 + 6 1010 c.1010G>A c.(1009-1011)CGC>CAC p.R337H ADAMTS14_uc001jrg.2_Missense_Mutation_p.R337H NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 337 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 CAGGTGTGTCGCTGGGCACAC 0.652 NaN 0 0 0 0.008291 0 9 49 PPP3CB 5532 broad.mit.edu 37 10 75214185 75214185 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:75214185C>T uc001jue.2 - 10 1306 c.1171G>A c.(1171-1173)GAA>AAA p.E391K PPP3CB_uc001juf.2_Missense_Mutation_p.E391K|PPP3CB_uc001jug.2_Missense_Mutation_p.E391K|PPP3CB_uc001jui.2_Missense_Mutation_p.E409K|PPP3CB_uc001juh.2_Missense_Mutation_p.E305K|PPP3CB_uc010qkj.1_Missense_Mutation_p.E19K NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 391 skin(1) 1 Prostate(51;0.0119) AACTGGTCTTCACCTTCAGTC 0.328 NaN 0 0 0 0.008291 0 11 55 SFTPD 6441 broad.mit.edu 37 10 81701777 81701777 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:81701777G>A uc001kbh.2 - 5 526 c.483C>T c.(481-483)CTC>CTT p.L161L MBL1P_uc001kbf.2_Intron NM_003019 NP_003010 P35247 SFTPD_HUMAN pulmonary surfactant-associated protein D 161 Collagen-like. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding skin(1) 1 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) TAGGGCCTGCGAGGCCTCTTG 0.622 NaN 0 0 0 0.008871 0 20 79 HIF1AN 55662 broad.mit.edu 37 10 102304781 102304781 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:102304781C>G uc001krj.3 + 4 726 c.651C>G c.(649-651)ATC>ATG p.I217M NM_017902 NP_060372 Q9NWT6 HIF1N_HUMAN hypoxia-inducible factor 1, alpha subunit 217 JmjC.|Interaction with HIF1A.|Interaction with VHL. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding 0 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) AACGATGCATCTTATTCCCTC 0.453 NaN 0 0 0 0.000602 0 3 91 GBF1 8729 broad.mit.edu 37 10 104119055 104119055 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:104119055C>T uc001kux.1 + 11 1280 c.1040C>T c.(1039-1041)TCA>TTA p.S347L GBF1_uc001kuw.2_3'UTR|GBF1_uc001kuy.1_Missense_Mutation_p.S347L|GBF1_uc001kuz.1_Missense_Mutation_p.S348L NM_004193 NP_004184 Q92538 GBF1_HUMAN golgi-specific brefeldin A resistant guanine 347 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) AAGTCCCAGTCAGCATCTGTG 0.537 NaN 0 0 0 0.008871 0 20 40 XPNPEP1 7511 broad.mit.edu 37 10 111640657 111640657 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:111640657G>A uc001kyp.1 - 11 1085 c.945C>T c.(943-945)ATC>ATT p.I315I XPNPEP1_uc009xxt.1_Silent_p.I358I|XPNPEP1_uc001kyq.1_Silent_p.I244I|XPNPEP1_uc010qrb.1_Silent_p.I358I|XPNPEP1_uc010qra.1_Silent_p.I82I NM_020383 NP_065116 Q9NQW7 XPP1_HUMAN X-prolyl aminopeptidase (aminopeptidase P) 1, 315 bradykinin catabolic process|proteolysis manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity ovary(3)|pancreas(1) 4 Breast(234;0.174) Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721) TGGCGATGCAGATGGGGGTGT 0.567 NaN 0 0 0 0.009096 0 4 19 ZDHHC6 64429 broad.mit.edu 37 10 114205095 114205095 + Missense_Mutation SNP A A T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:114205095A>T uc001kzv.2 - 2 524 c.100T>A c.(100-102)TGT>AGT p.C34S VTI1A_uc001kzy.2_5'Flank|VTI1A_uc001kzz.2_5'Flank|ZDHHC6_uc001kzw.2_Missense_Mutation_p.C34S|ZDHHC6_uc009xya.1_Missense_Mutation_p.C34S|VTI1A_uc001kzx.2_5'Flank NM_022494 NP_071939 Q9H6R6 ZDHC6_HUMAN zinc finger, DHHC-type containing 6 34 Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding 0 Colorectal(252;0.198) Epithelial(162;0.0291)|all cancers(201;0.117) ATGGTAGAACATATTGCTATA 0.398 NaN 0 0 0 0.010729 0 11 32 TDRD1 56165 broad.mit.edu 37 10 115947866 115947866 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:115947866C>T uc001lbg.1 + 2 429 c.276C>T c.(274-276)ATC>ATT p.I92I TDRD1_uc001lbf.2_Silent_p.I83I|TDRD1_uc001lbh.1_Silent_p.I83I|TDRD1_uc001lbi.1_Silent_p.I83I NM_198795 NP_942090 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 92 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding 0 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CGAATGGCATCAACGGAGAAG 0.398 NaN 0 0 0 0.001855 0 13 51 ABLIM1 3983 broad.mit.edu 37 10 116361688 116361688 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:116361688C>G uc010qsg.1 - 2 376 c.277G>C c.(277-279)GAG>CAG p.E93Q ABLIM1_uc010qsh.1_Missense_Mutation_p.E33Q|ABLIM1_uc010qsi.1_Missense_Mutation_p.E33Q|ABLIM1_uc010qsk.1_Missense_Mutation_p.E17Q|ABLIM1_uc009xyp.2_Missense_Mutation_p.E27Q|ABLIM1_uc001lbz.1_Missense_Mutation_p.E16Q NM_002313 NP_002304 O14639 ABLM1_HUMAN actin-binding LIM protein 1 isoform a 93 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(1) 1 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) ACAGGCTTCTCTGATGGGTGG 0.493 NaN 0 0 0 0.001168 0 5 39 ZRANB1 54764 broad.mit.edu 37 10 126631257 126631257 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:126631257G>C uc001lic.2 + 1 566 c.195G>C c.(193-195)TTG>TTC p.L65F ZRANB1_uc010qug.1_Missense_Mutation_p.L91F NM_017580 NP_060050 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 65 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|kidney(1) 2 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) GTAGTCCTTTGATATGTCCAG 0.413 NaN 0 0 0 0.003271 0 35 69 DPYSL4 10570 broad.mit.edu 37 10 134013904 134013904 + Missense_Mutation SNP G G C rs145582956 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr10:134013904G>C uc009ybb.2 + 9 1010 c.856G>C c.(856-858)GAC>CAC p.D286H NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 286 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides p.D286D(2) central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) CCTGGGCACCGACGGTTCACA 0.677 NaN 0 0 0 0.001855 0 10 51 PDDC1 347862 broad.mit.edu 37 11 771391 771391 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:771391G>A uc001lrc.2 - 6 511 c.486C>T c.(484-486)TTC>TTT p.F162F PDDC1_uc010qwm.1_Silent_p.F112F|PDDC1_uc001lrd.2_Silent_p.F162F|PDDC1_uc001lrf.1_Missense_Mutation_p.S140L|PDDC1_uc001lrg.1_RNA|PDDC1_uc009ycg.2_Silent_p.F112F|PDDC1_uc010qwn.1_RNA|PDDC1_uc010qwo.1_RNA|PDDC1_uc010qwp.1_Silent_p.F126F|PDDC1_uc010qwq.1_Silent_p.F76F|PDDC1_uc010qwr.1_Silent_p.F162F|PDDC1_uc010qws.1_Silent_p.F112F NM_182612 NP_872418 Q8NB37 PDDC1_HUMAN Parkinson disease 7 domain containing 1 162 extracellular region 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCAGGCGGGCGAAGCCGGGGG 0.701 NaN 0 0 0 0.006214 0 9 13 OR51D1 390038 broad.mit.edu 37 11 4661760 4661760 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:4661760C>T uc010qyk.1 + 1 740 c.740C>T c.(739-741)GCA>GTA p.A247V NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 247 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) CGGAGGGCAGCACTCAAGGCT 0.537 NaN 0 0 0 0.004482 0 9 73 NLRP10 338322 broad.mit.edu 37 11 7982182 7982182 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:7982182G>A uc001mfv.1 - 2 994 c.977C>T c.(976-978)TCC>TTC p.S326F NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 326 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGTGAAATAGGAGCTGAAGTA 0.517 NaN 0 0 0 0.00278 0 22 55 TMEM41B 440026 broad.mit.edu 37 11 9304976 9304976 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:9304976C>G uc001mhm.2 - 7 1179 c.871G>C c.(871-873)GAG>CAG p.E291Q TMEM41B_uc001mhn.1_Missense_Mutation_p.E291Q NM_015012 NP_055827 Q5BJD5 TM41B_HUMAN transmembrane protein 41B isoform 1 291 integral to membrane 0 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) TATTTTTACTCAAATTTCTGC 0.333 NaN 0 0 0 0.004672 0 2 16 TMEM41B 440026 broad.mit.edu 37 11 9308127 9308127 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:9308127C>G uc001mhm.2 - 6 889 c.581G>C c.(580-582)AGA>ACA p.R194T TMEM41B_uc001mhn.1_Missense_Mutation_p.R194T NM_015012 NP_055827 Q5BJD5 TM41B_HUMAN transmembrane protein 41B isoform 1 194 integral to membrane 0 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) GAGATGTTCTCTATGACGTTC 0.303 NaN 0 0 0 0.004656 0 25 127 IPO7 10527 broad.mit.edu 37 11 9450660 9450660 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:9450660G>A uc001mho.2 + 14 1650 c.1508G>A c.(1507-1509)AGA>AAA p.R503K NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 503 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) CTAACAAGAAGATGTCTGATT 0.373 NaN 0 0 0 0.006122 0 19 63 EIF4G2 1982 broad.mit.edu 37 11 10820632 10820632 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:10820632G>C uc001mjc.2 - 21 2982 c.2565C>G c.(2563-2565)TTC>TTG p.F855L EIF4G2_uc001mjb.2_Missense_Mutation_p.F649L|EIF4G2_uc009ygf.2_Missense_Mutation_p.F649L|EIF4G2_uc001mjd.2_Missense_Mutation_p.F817L NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 855 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CCATGTCATAGAAGTGCACAA 0.343 NaN 0 0 0 0.008871 0 20 57 EIF4G2 1982 broad.mit.edu 37 11 10820954 10820954 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:10820954G>A uc001mjc.2 - 20 2759 c.2342C>T c.(2341-2343)TCT>TTT p.S781F EIF4G2_uc001mjb.2_Missense_Mutation_p.S575F|EIF4G2_uc009ygf.2_Missense_Mutation_p.S575F|EIF4G2_uc001mjd.2_Missense_Mutation_p.S743F NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 781 W2. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) TACTTCACTAGAAATGTACTG 0.423 NaN 0 0 0 0.001368 0 12 32 EIF4G2 1982 broad.mit.edu 37 11 10821742 10821742 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:10821742G>T uc001mjc.2 - 18 2431 c.2014C>A c.(2014-2016)CCT>ACT p.P672T EIF4G2_uc001mjb.2_Missense_Mutation_p.P466T|EIF4G2_uc009ygf.2_Missense_Mutation_p.P466T|EIF4G2_uc001mjd.2_Missense_Mutation_p.P634T NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 672 cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) AGGAAGAGAGGAAAATGGGTG 0.408 NaN 1 0 7.93312e-07 0.00245 8.31893e-07 15 40 EIF4G2 1982 broad.mit.edu 37 11 10825066 10825066 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:10825066C>T uc001mjc.2 - 9 1191 c.774G>A c.(772-774)ATG>ATA p.M258I EIF4G2_uc001mjb.2_Missense_Mutation_p.M52I|EIF4G2_uc009ygf.2_Missense_Mutation_p.M52I|EIF4G2_uc001mjd.2_Missense_Mutation_p.M258I|EIF4G2_uc001mjf.1_Missense_Mutation_p.M52I|SNORD97_uc009yge.2_5'Flank NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 258 MIF4G. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CCACTGTCCTCATTATCTGAC 0.403 NaN 0 0 0 0.010729 0 10 56 PLEKHA7 144100 broad.mit.edu 37 11 16812671 16812671 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:16812671G>A uc001mmo.2 - 20 2836 c.2821C>T c.(2821-2823)CTG>TTG p.L941L PLEKHA7_uc010rcu.1_Silent_p.L942L|PLEKHA7_uc001mmm.2_Silent_p.L44L|PLEKHA7_uc010rcv.1_Silent_p.L516L|PLEKHA7_uc001mmn.2_Silent_p.L650L NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 941 Pro-rich. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 TCTCTTGGCAGAGGCGGCACA 0.637 NaN 0 0 0 0.001984 0 7 29 KIF18A 81930 broad.mit.edu 37 11 28045346 28045346 + Missense_Mutation SNP T T A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:28045346T>A uc001msc.2 - 16 2738 c.2556A>T c.(2554-2556)AAA>AAT p.K852N NM_031217 NP_112494 Q8NI77 KI18A_HUMAN kinesin family member 18A 852 blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding ovary(2) 2 GTCGAACACGTTTGGCAAATC 0.323 NaN 0 0 0 0.001984 0 6 44 CAT 847 broad.mit.edu 37 11 34470812 34470812 + Missense_Mutation SNP G G A rs148918137 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:34470812G>A uc001mvm.2 + 2 223 c.140G>A c.(139-141)CGT>CAT p.R47H CAT_uc009ykc.1_RNA NM_001752 NP_001743 P04040 CATA_HUMAN catalase 47 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) GTAGGGCCCCGTGGGCCCCTT 0.473 NaN 0 0 0 0.004007 0 17 72 PSMC3 5702 broad.mit.edu 37 11 47446777 47446777 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:47446777C>G uc001nfh.2 - 3 374 c.180G>C c.(178-180)TTG>TTC p.L60F PSMC3_uc009ylr.1_Intron NM_002804 NP_002795 P17980 PRS6A_HUMAN proteasome 26S ATPase subunit 3 60 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity ovary(4) 4 Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGGTGACTCTCAACACTTCAC 0.473 NaN 0 0 0 0.00245 0 15 89 PTPRJ 5795 broad.mit.edu 37 11 48134415 48134415 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:48134415C>G uc001ngp.3 + 3 587 c.232C>G c.(232-234)CAG>GAG p.Q78E PTPRJ_uc001ngo.3_Missense_Mutation_p.Q78E NM_002843 NP_002834 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 78 Extracellular (Potential). 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 breast(3)|kidney(3)|ovary(1)|skin(1) 8 TGGAACACCTCAGGTGGAAAC 0.468 NaN 0 0 0 0.008871 0 19 44 FOLH1 2346 broad.mit.edu 37 11 49229913 49229913 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:49229913G>A uc001ngy.2 - 1 310 c.49C>T c.(49-51)CGC>TGC p.R17C FOLH1_uc001ngz.2_Missense_Mutation_p.R17C|FOLH1_uc009yly.2_5'UTR|FOLH1_uc009ylz.2_5'UTR|FOLH1_uc009yma.2_5'UTR|FOLH1_uc001nha.2_5'UTR NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 17 Cytoplasmic (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) CAGCGCGGGCGGCGCGCGGTG 0.711 NaN 0 0 0 0.004672 0 3 7 OR5M10 390167 broad.mit.edu 37 11 56344784 56344784 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:56344784C>G uc001niz.1 - 1 414 c.414G>C c.(412-414)AAG>AAC p.K138N NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCAAATGTTCTTGGACATCC 0.468 NaN 0 0 0 0.000602 0 4 91 OR9I1 219954 broad.mit.edu 37 11 57886441 57886441 + Missense_Mutation SNP C C T rs139300657 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:57886441C>T uc001nml.1 - 1 476 c.476G>A c.(475-477)CGT>CAT p.R159H OR9Q1_uc001nmj.2_Intron NM_001005211 NP_001005211 Q8NGQ6 OR9I1_HUMAN olfactory receptor, family 9, subfamily I, 159 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Breast(21;0.0589) GCAAGTGGTACGCAGGATGGC 0.542 NaN 0 0 0 0.001984 0 7 53 OR1S2 219958 broad.mit.edu 37 11 57970695 57970695 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:57970695C>G uc010rkb.1 - 1 959 c.959G>C c.(958-960)AGA>ACA p.R320T NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 320 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) AGAAATTTTTCTATTGATGAG 0.428 NaN 0 0 0 0.008291 0 10 97 CCDC86 79080 broad.mit.edu 37 11 60617418 60617418 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:60617418G>T uc001nqa.2 + 3 1063 c.894G>T c.(892-894)AAG>AAT p.K298N CCDC86_uc001nqb.2_Missense_Mutation_p.K42N NM_024098 NP_077003 Q9H6F5 CCD86_HUMAN coiled-coil domain containing 86 298 Potential. interspecies interaction between organisms nucleus 0 TCCAGGAGAAGAAACAGCGCC 0.607 NaN 1 0 0.00198382 0.001984 0.0020249 5 18 FADS1 3992 broad.mit.edu 37 11 61580081 61580081 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:61580081C>T uc010rlm.1 - 3 674 c.546G>A c.(544-546)ATG>ATA p.M182I FADS1_uc001nsh.2_Missense_Mutation_p.M41I|FADS1_uc010rln.1_Missense_Mutation_p.M41I NM_013402 NP_037534 O60427 FADS1_HUMAN fatty acid desaturase 1 125 Helical; (Potential). cell-cell signaling|cellular response to starvation|electron transport chain|icosanoid biosynthetic process|phospholipid biosynthetic process|regulation of cell differentiation|regulation of transcription, DNA-dependent|transport endoplasmic reticulum membrane|integral to membrane|microsome C-5 sterol desaturase activity|heme binding|protein binding central_nervous_system(1) 1 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GGTTGGCCTTCATGAGCCCCA 0.552 NaN 0 0 0 0.00308 0 6 23 C11orf48 79081 broad.mit.edu 37 11 62437250 62437250 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:62437250G>C uc001nue.2 - 3 611 c.176C>G c.(175-177)CCG>CGG p.P59R C11orf48_uc001nuf.2_Missense_Mutation_p.P59R|C11orf48_uc010rmd.1_Missense_Mutation_p.P59R|C11orf83_uc001nui.3_5'Flank NM_024099 NP_077004 Q9BQE6 CK048_HUMAN hypothetical protein LOC79081 85 0 CACAATAGACGGCAGATGGGA 0.532 NaN 0 0 0 0.001984 0 6 111 NXF1 10482 broad.mit.edu 37 11 62569095 62569095 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:62569095C>G uc001nvf.1 - 7 784 c.648G>C c.(646-648)ATG>ATC p.M216I NXF1_uc001nvg.1_Missense_Mutation_p.M216I|NXF1_uc009yog.1_Missense_Mutation_p.M259I|NXF1_uc010rmh.1_Missense_Mutation_p.M79I NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 216 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 ATCGTTTGCTCATGATCAGCT 0.493 NaN 0 0 0 0.012319 0 23 80 RTN3 10313 broad.mit.edu 37 11 63487538 63487538 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:63487538G>A uc001nxq.2 + 3 1751 c.1564G>A c.(1564-1566)GAA>AAA p.E522K RTN3_uc001nxo.2_Intron|RTN3_uc001nxm.2_Intron|RTN3_uc001nxn.2_Missense_Mutation_p.E503K|RTN3_uc001nxp.2_Intron|RTN3_uc009yov.2_Missense_Mutation_p.E410K|RTN3_uc010rmt.1_Intron|RTN3_uc010rmu.1_Intron NM_201428 NP_958831 O95197 RTN3_HUMAN reticulon 3 isoform b 522 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane ovary(1) 1 AATTCAGGCTGAAAAACCTGT 0.368 NaN 0 0 0 0.009096 0 3 32 KCNK4 50801 broad.mit.edu 37 11 64067068 64067068 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:64067068C>G uc001nzj.1 + 7 1375 c.1052C>G c.(1051-1053)TCG>TGG p.S351W KCNK4_uc001nzk.1_Silent_p.L235L|KCNK4_uc010rnk.1_Missense_Mutation_p.S179W|KCNK4_uc001nzl.1_Silent_p.L235L|KCNK4_uc001nzm.3_RNA|KCNK4_uc001nzn.1_Missense_Mutation_p.S351W|KCNK4_uc001nzo.2_Missense_Mutation_p.S351W|KCNK4_uc001nzp.1_Missense_Mutation_p.S237W|C11orf20_uc009ypm.2_5'Flank NM_033310 NP_201567 Q9NYG8 KCNK4_HUMAN TRAAK 351 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 GACGAGTCCTCGGATACGCAG 0.652 NaN 0 0 0 0.00245 0 11 32 ATG2A 23130 broad.mit.edu 37 11 64669472 64669472 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:64669472C>T uc001obx.2 - 29 4196 c.4081G>A c.(4081-4083)GAG>AAG p.E1361K ATG2A_uc001obw.2_Missense_Mutation_p.E126K NM_015104 NP_055919 Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1361 protein binding ovary(1)|central_nervous_system(1) 2 ATGCAGAACTCATCACTGTCC 0.622 NaN 0 0 0 0.006214 0 9 74 C11orf85 283129 broad.mit.edu 37 11 64708057 64708057 + Missense_Mutation SNP A A C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:64708057A>C uc001ocb.1 - 8 609 c.535T>G c.(535-537)TCC>GCC p.S179A C11orf85_uc001occ.1_RNA|C11orf85_uc001ocd.1_Missense_Mutation_p.V122G NM_001037225 NP_001032302 Q3KP22 CK085_HUMAN hypothetical protein LOC283129 179 0 TTGTTTCTGGACATCAGTGAT 0.408 NaN 0 0 0 0.008871 0 17 78 FIBP 9158 broad.mit.edu 37 11 65651873 65651873 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:65651873C>T uc001ogd.2 - 9 1136 c.1015G>A c.(1015-1017)GAT>AAT p.D339N FIBP_uc009yqu.2_Missense_Mutation_p.R324Q|FIBP_uc001oge.2_Missense_Mutation_p.D332N NM_198897 NP_942600 O43427 FIBP_HUMAN FGF intracellular binding protein isoform a 339 fibroblast growth factor receptor signaling pathway endomembrane system|membrane|microsome|mitochondrion|nucleus fibroblast growth factor binding ovary(1) 1 READ - Rectum adenocarcinoma(159;0.166) CGGAAGCCATCGAGGGAGTGG 0.627 NaN OREG0021089 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 4 25 RBM4B 83759 broad.mit.edu 37 11 66436149 66436149 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:66436149C>T uc001oja.2 - 2 1695 c.1026G>A c.(1024-1026)ATG>ATA p.M342I RBM4B_uc001ojb.2_Missense_Mutation_p.M342I NM_031492 NP_113680 Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 342 Interaction with TNPO3 (By similarity). circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding 0 CATACCGGGCCATGTCATACA 0.517 NaN 0 0 0 0.00245 0 12 32 CPT1A 1374 broad.mit.edu 37 11 68525189 68525189 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:68525189G>A uc001oog.3 - 19 2415 c.2245C>T c.(2245-2247)CGC>TGC p.R749C CPT1A_uc001oof.3_Intron|CPT1A_uc009ysj.2_Intron NM_001876 NP_001867 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A liver isoform 749 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity skin(2) 2 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) CTTCCAAAGCGATGAGAATCC 0.398 NaN 0 0 0 0.00308 0 8 74 IGHMBP2 3508 broad.mit.edu 37 11 68703931 68703931 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:68703931C>T uc001ook.1 + 13 2085 c.1983C>T c.(1981-1983)CAC>CAT p.H661H IGHMBP2_uc001ool.1_Silent_p.H285H|IGHMBP2_uc001oom.1_Silent_p.H239H NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 661 SS DNA-binding (By similarity). cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GTTCCAGCCACGCTGCCACCA 0.597 NaN 0 0 0 0.008871 0 18 72 CCND1 595 broad.mit.edu 37 11 69456203 69456203 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:69456203C>T uc001opa.2 + 1 331 c.122C>T c.(121-123)TCG>TTG p.S41L NM_053056 NP_444284 P24385 CCND1_HUMAN cyclin D1 41 Cyclin N-terminal. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm protein kinase binding ovary(1)|lung(1) 2 all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348) Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537) Arsenic trioxide(DB01169) TGCGCGCCCTCGGTGTCCTAC 0.652 NaN T IGH@|FSTL3 CLL|B-ALL|breast Multiple Myeloma(6;0.086) 0 0 0 0.006122 0 15 63 NUMA1 4926 broad.mit.edu 37 11 71715792 71715792 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:71715792C>T uc001orl.1 - 24 6072 c.5900G>A c.(5899-5901)CGA>CAA p.R1967Q IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R149Q|NUMA1_uc009ysw.1_Missense_Mutation_p.R1534Q|NUMA1_uc001ork.1_Missense_Mutation_p.R831Q|NUMA1_uc001orm.1_Missense_Mutation_p.R1953Q NM_006185 NP_006176 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 1967 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity ovary(3)|lung(2)|skin(2)|central_nervous_system(1) 8 CATGCTGGCTCGGCGCAGGGT 0.627 NaN T RARA APL 0 0 0 0.00499 0 17 27 P2RY2 5029 broad.mit.edu 37 11 72945966 72945966 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:72945966C>T uc001otj.2 + 3 1095 c.762C>T c.(760-762)TTC>TTT p.F254F P2RY2_uc001otk.2_Silent_p.F254F|P2RY2_uc001otl.2_Silent_p.F254F NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 254 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) TGGCTGTCTTCGCCCTCTGCT 0.652 NaN 0 0 0 0.009096 0 4 42 P2RY2 5029 broad.mit.edu 37 11 72945972 72945972 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:72945972C>G uc001otj.2 + 3 1101 c.768C>G c.(766-768)CTC>CTG p.L256L P2RY2_uc001otk.2_Silent_p.L256L|P2RY2_uc001otl.2_Silent_p.L256L NM_002564 NP_002555 P41231 P2RY2_HUMAN purinergic receptor P2Y2 256 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(2)|lung(1)|skin(1) 4 Suramin(DB04786) TCTTCGCCCTCTGCTTCCTGC 0.647 NaN 0 0 0 0.004672 0 3 44 PAAF1 80227 broad.mit.edu 37 11 73627688 73627688 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:73627688G>A uc001ouk.1 + 9 952 c.918G>A c.(916-918)CTG>CTA p.L306L PAAF1_uc001oul.1_Silent_p.L289L|PAAF1_uc009ytx.1_RNA|PAAF1_uc001oum.1_Silent_p.L289L|PAAF1_uc001oun.1_5'Flank NM_025155 NP_079431 Q9BRP4 PAAF1_HUMAN proteasomal ATPase-associated factor 1 306 WD 4. interspecies interaction between organisms proteasome complex protein binding ovary(1)|skin(1) 2 Breast(11;7.42e-05) TTTATCAGCTGGATGTGAGGA 0.423 NaN 0 0 0 0.000602 0 4 41 SYTL2 54843 broad.mit.edu 37 11 85445395 85445395 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:85445395G>A uc010rth.1 - 6 1250 c.974C>T c.(973-975)TCC>TTC p.S325F SYTL2_uc010rtg.1_Missense_Mutation_p.S326F|SYTL2_uc010rti.1_Missense_Mutation_p.S325F|SYTL2_uc010rtj.1_Missense_Mutation_p.S277F|SYTL2_uc001pbf.3_Missense_Mutation_p.S325F|SYTL2_uc010rtf.1_Missense_Mutation_p.S183F NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 325 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TGGCTCCAGGGAGTTTGGGGA 0.448 NaN 0 0 0 0.00333 0 23 83 HEPHL1 341208 broad.mit.edu 37 11 93778980 93778980 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:93778980G>A uc001pep.2 + 2 469 c.312G>A c.(310-312)TTG>TTA p.L104L NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 104 Plastocyanin-like 1.|Extracellular (Potential). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GCCCCATCTTGAGGGCCGAAG 0.468 NaN 0 0 0 0.008291 0 10 22 HEPHL1 341208 broad.mit.edu 37 11 93844129 93844129 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:93844129G>A uc001pep.2 + 18 3263 c.3106G>A c.(3106-3108)GAA>AAA p.E1036K uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 1036 Extracellular (Potential).|Plastocyanin-like 6. copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) CCAAACCATTGAACTGTTTGC 0.438 NaN 0 0 0 0.008291 0 9 14 MMP8 4317 broad.mit.edu 37 11 102584518 102584518 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:102584518C>G uc001phe.2 - 9 1360 c.1261G>C c.(1261-1263)GAG>CAG p.E421Q MMP8_uc010rut.1_Nonstop_Mutation_p.*304Y|MMP8_uc010ruu.1_Missense_Mutation_p.E398Q NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 421 Hemopexin-like 3. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) ACTTTACTCTCTATTCCTGGA 0.313 NaN 0 0 0 0.003163 0 14 71 GUCY1A2 2977 broad.mit.edu 37 11 106849346 106849346 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:106849346G>A uc001pjg.1 - 3 876 c.486C>T c.(484-486)CTC>CTT p.L162L GUCY1A2_uc010rvo.1_Silent_p.L162L|GUCY1A2_uc009yxn.1_Silent_p.L162L NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 162 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TTAATATACCGAGTATATTAG 0.368 NaN 0 0 0 0.009096 0 3 22 TTC12 54970 broad.mit.edu 37 11 113210177 113210177 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:113210177G>C uc001pnu.2 + 10 912 c.807G>C c.(805-807)CTG>CTC p.L269L TTC12_uc001pnv.2_Silent_p.L275L|TTC12_uc001pnw.2_RNA|TTC12_uc001pnx.2_Silent_p.L119L NM_017868 NP_060338 Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 269 binding pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) TTGAGATCCTGACTGAAATGA 0.498 NaN 0 0 0 0.001368 0 11 52 CLDN25 644672 broad.mit.edu 37 11 113650985 113650985 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:113650985C>G uc009yyw.1 + 1 468 c.468C>G c.(466-468)ATC>ATG p.I156M NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 156 Extracellular (Potential). integral to membrane|tight junction structural molecule activity 0 TCCCTGACATCATACCTCGGT 0.582 NaN 0 0 0 0.001168 0 6 26 CLDN25 644672 broad.mit.edu 37 11 113651015 113651015 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:113651015C>G uc009yyw.1 + 1 498 c.498C>G c.(496-498)CTC>CTG p.L166L NM_001101389 NP_001094859 C9JDP6 CLD25_HUMAN claudin 25 166 Helical; (Potential). integral to membrane|tight junction structural molecule activity 0 GAGGTGCCCTCTACTTGGGCT 0.557 NaN 0 0 0 0.006214 0 10 17 APOA5 116519 broad.mit.edu 37 11 116661323 116661323 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:116661323C>G uc001ppr.2 - 3 630 c.622G>C c.(622-624)GAG>CAG p.E208Q ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Missense_Mutation_p.E208Q|APOA5_uc009yzf.2_Missense_Mutation_p.E208Q|APOA5_uc009yzg.2_Missense_Mutation_p.E234Q NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 208 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) CGGTGCAGCTCCTGCACGTGG 0.706 NaN 0 0 0 0.006214 0 9 14 UBE4A 9354 broad.mit.edu 37 11 118267074 118267074 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:118267074G>C uc001psw.2 + 20 3249 c.3120G>C c.(3118-3120)CAG>CAC p.Q1040H UBE4A_uc001psv.2_Missense_Mutation_p.Q1047H NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1040 U-box. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CCATGGACCAGATCCGGCCAA 0.418 NaN 0 0 0 0.006214 0 6 60 UBE4A 9354 broad.mit.edu 37 11 118267125 118267125 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:118267125G>C uc001psw.2 + 20 3300 c.3171G>C c.(3169-3171)GAG>GAC p.E1057D UBE4A_uc001psv.2_Missense_Mutation_p.E1064D NM_004788 NP_004779 Q14139 UBE4A_HUMAN ubiquitination factor E4A 1057 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding ovary(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 5 all_hematologic(175;0.046) Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) GGCTTGCAGAGAGGAAACAAC 0.438 NaN 0 0 0 0.006214 0 7 48 MFRP 83552 broad.mit.edu 37 11 119212379 119212379 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:119212379G>C uc001pwj.2 - 13 1779 c.1619C>G c.(1618-1620)TCT>TGT p.S540C MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Missense_Mutation_p.S422C NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:Variant_position_missing_in_Q9BXJ0_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CTGGCAGACAGAGCGGCAAGG 0.647 NaN 0 0 0 0.001855 0 14 26 OR10G9 219870 broad.mit.edu 37 11 123893845 123893845 + Silent SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:123893845C>A uc010sad.1 + 1 126 c.126C>A c.(124-126)CTC>CTA p.L42L NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GGAACCTCCTCATCCTGCTGG 0.572 NaN 1 0 3.1745e-13 0.008361 3.38548e-13 25 62 OR10G7 390265 broad.mit.edu 37 11 123909583 123909583 + Silent SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:123909583G>T uc001pzq.1 - 1 126 c.126C>A c.(124-126)CTC>CTA p.L42L NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN olfactory receptor, family 10, subfamily G, 42 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CCAGCAGGATGAGGAGGTTCC 0.577 NaN 1 0 5.18039e-06 0.00308 5.39136e-06 5 54 VWA5A 4013 broad.mit.edu 37 11 124012328 124012328 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:124012328G>C uc001pzu.2 + 16 2112 c.1903G>C c.(1903-1905)GAC>CAC p.D635H VWA5A_uc001pzt.2_Missense_Mutation_p.D635H NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 635 upper_aerodigestive_tract(1)|ovary(1) 2 CTTACACTCTGACCGTCCTCC 0.463 NaN 0 0 0 0.005443 0 25 47 OR8D1 283159 broad.mit.edu 37 11 124179832 124179832 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:124179832G>C uc010sag.1 - 1 831 c.831C>G c.(829-831)TTC>TTG p.F277L NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 277 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CCGTGGTGTAGAACACAGAGG 0.453 NaN 0 0 0 0.002299 0 22 30 ACAD8 27034 broad.mit.edu 37 11 134131719 134131719 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:134131719G>A uc001qhk.2 + 9 1088 c.1027G>A c.(1027-1029)GAG>AAG p.E343K ACAD8_uc010scp.1_RNA|ACAD8_uc010scq.1_Missense_Mutation_p.E266K|ACAD8_uc001qhl.2_Missense_Mutation_p.E216K NM_014384 NP_055199 Q9UKU7 ACAD8_HUMAN acyl-Coenzyme A dehydrogenase family, member 8 343 branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding 0 all_hematologic(175;0.127) all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559) Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21) TCTGCAGGAGGAGAGGAAGGA 0.567 NaN 0 0 0 0.00245 0 14 27 GLB1L2 89944 broad.mit.edu 37 11 134244148 134244148 + Nonsense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:134244148G>T uc001qhp.2 + 17 1893 c.1705G>T c.(1705-1707)GAG>TAG p.E569* GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 569 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) TCTGAAGCTGGAGGTTGGTAA 0.567 NaN 1 0 3.59834e-05 0.001168 3.71684e-05 6 86 SLC6A13 6540 broad.mit.edu 37 12 331745 331745 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:331745G>A uc001qic.1 - 13 1521 c.1468C>T c.(1468-1470)CCT>TCT p.P490S SLC6A13_uc009zdj.1_Missense_Mutation_p.P480S|SLC6A13_uc010sdl.1_Missense_Mutation_p.P398S NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 490 Helical; Name=11; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TTGATAAGAGGCCATGGCCTG 0.478 NaN 0 0 0 0.001368 0 9 11 KCNA1 3736 broad.mit.edu 37 12 5021802 5021802 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:5021802G>C uc001qnh.2 + 2 2363 c.1258G>C c.(1258-1260)GAG>CAG p.E420Q NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 420 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCGAGAAACTGAGGGGGAAGA 0.527 NaN 0 0 0 0.001984 0 6 569 CHD4 1108 broad.mit.edu 37 12 6710690 6710690 + Silent SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:6710690G>T uc001qpo.2 - 6 728 c.564C>A c.(562-564)CTC>CTA p.L188L CHD4_uc001qpn.2_Silent_p.L181L|CHD4_uc001qpp.2_Silent_p.L185L NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 188 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGGCAGCAATGAGGGGTCTGG 0.438 NaN 1 0 8.96267e-189 0.00361 9.61779e-189 345 360 CD163 9332 broad.mit.edu 37 12 7647847 7647847 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:7647847C>T uc001qsz.3 - 6 1378 c.1250G>A c.(1249-1251)GGA>GAA p.G417E CD163_uc001qta.3_Missense_Mutation_p.G417E|CD163_uc009zfw.2_Missense_Mutation_p.G417E NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 417 SRCR 4.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 GAGTGCAGATCCACATCCCAG 0.468 NaN 0 0 0 0.00245 0 13 96 A2M 2 broad.mit.edu 37 12 9229475 9229475 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:9229475C>G uc001qvk.1 - 28 3522 c.3409G>C c.(3409-3411)GAA>CAA p.E1137Q A2M_uc001qvj.1_Missense_Mutation_p.E179Q|A2M_uc009zgk.1_Missense_Mutation_p.E987Q NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1137 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) TGGTCCCCTTCTTGTGCTGTC 0.512 NaN 0 0 0 0.001855 0 12 115 TAS2R8 50836 broad.mit.edu 37 12 10959334 10959334 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:10959334C>T uc010shh.1 - 1 246 c.246G>A c.(244-246)CAG>CAA p.Q82Q NM_023918 NP_076407 Q9NYW2 TA2R8_HUMAN taste receptor, type 2, member 8 82 Extracellular (Potential). sensory perception of taste integral to membrane taste receptor activity ovary(2) 2 AAATGACTATCTGTTGTTTAT 0.343 NaN 0 0 0 0.006214 0 10 66 TAS2R42 353164 broad.mit.edu 37 12 11339184 11339184 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:11339184G>A uc001qzr.1 - 1 360 c.360C>T c.(358-360)CTC>CTT p.L120L PRB4_uc001qzf.1_Intron NM_181429 NP_852094 Q7RTR8 T2R42_HUMAN taste receptor, type 2, member 42 120 Helical; Name=4; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0455) ACCTCAGCCAGAGGAAAAGGG 0.398 NaN 0 0 0 0.003163 0 13 27 HEBP1 50865 broad.mit.edu 37 12 13142262 13142262 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:13142262G>A uc001rbd.2 - 2 339 c.166C>T c.(166-168)CGG>TGG p.R56W HEBP1_uc001rbf.2_Missense_Mutation_p.R56W NM_015987 NP_057071 Q9NRV9 HEBP1_HUMAN heme binding protein 1 56 circadian rhythm extracellular region breast(1) 1 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) ATTGCTTCCCGTAGAGCCTCA 0.542 NaN 0 0 0 0.005524 0 38 105 SLCO1B3 28234 broad.mit.edu 37 12 21028360 21028360 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:21028360C>G uc001rek.2 + 8 1045 c.919C>G c.(919-921)CAA>GAA p.Q307E SLCO1B3_uc001rel.2_Missense_Mutation_p.Q307E|SLCO1B3_uc010sil.1_Missense_Mutation_p.Q307E|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.Q132E NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 307 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TGATAGAAATCAAACAGCTAA 0.303 NaN 0 0 0 0.004007 0 15 58 ERGIC2 51290 broad.mit.edu 37 12 29498381 29498381 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:29498381C>T uc001riv.2 - 11 953 c.820G>A c.(820-822)GAA>AAA p.E274K ERGIC2_uc001riw.2_RNA NM_016570 NP_057654 Q96RQ1 ERGI2_HUMAN PTX1 protein 274 Lumenal (Potential). vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus ovary(1) 1 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) CTTACCCTTTCTGTCACAGAA 0.323 NaN 0 0 0 0.010504 0 19 114 KIF21A 55605 broad.mit.edu 37 12 39726896 39726896 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:39726896C>T uc001rly.2 - 19 2647 c.2501G>A c.(2500-2502)CGT>CAT p.R834H KIF21A_uc001rlv.2_5'Flank|KIF21A_uc001rlw.2_Missense_Mutation_p.R151H|KIF21A_uc001rlx.2_Missense_Mutation_p.R821H|KIF21A_uc001rlz.2_Missense_Mutation_p.R798H|KIF21A_uc010skl.1_Missense_Mutation_p.R821H NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 834 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TACTTGCCGACGAAGAGCCGT 0.443 NaN 0 0 0 0.001168 0 6 96 LETMD1 25875 broad.mit.edu 37 12 51449628 51449628 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:51449628C>T uc001rxm.2 + 5 540 c.484C>T c.(484-486)CCC>TCC p.P162S LETMD1_uc010smz.1_Missense_Mutation_p.P112S|LETMD1_uc010sna.1_Intron|LETMD1_uc001rxl.2_Missense_Mutation_p.P106S|LETMD1_uc009zlv.2_Intron|LETMD1_uc001rxs.2_Intron|LETMD1_uc009zlw.2_Missense_Mutation_p.P175S|LETMD1_uc001rxn.2_Missense_Mutation_p.P5S|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Missense_Mutation_p.P45S|LETMD1_uc001rxq.2_Intron|LETMD1_uc001rxr.2_Intron|LETMD1_uc001rxt.2_Intron NM_015416 NP_056231 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 isoform 1 162 Mitochondrial intermembrane (Potential).|LETM1. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2) 2 GTACCTGTTTCCCAGGCAACT 0.418 NaN 0 0 0 0.007291 0 27 59 PRR13 54458 broad.mit.edu 37 12 53839821 53839821 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:53839821C>T uc001scz.3 + 4 589 c.425C>T c.(424-426)TCT>TTT p.S142F PRR13_uc001scy.3_Missense_Mutation_p.S92F|PCBP2_uc010soh.1_Intron|PRR13_uc001sda.3_Missense_Mutation_p.S142F NM_018457 NP_060927 Q9NZ81 PRR13_HUMAN proline rich 13 isoform 1 142 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 TCCTCCTCCTCTTCCAGCAGT 0.512 NaN 0 0 0 0.002836 0 32 64 NPFF 8620 broad.mit.edu 37 12 53900619 53900619 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:53900619C>G uc001sdw.1 - 3 447 c.283G>C c.(283-285)GAG>CAG p.E95Q NM_003717 NP_003708 O15130 NPFF_HUMAN neuropeptide FF-amide peptide preproprotein 95 neuropeptide signaling pathway|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity 0 TTCAGCCCCTCTCCAGCCCGG 0.552 NaN 0 0 0 0.00632 0 25 124 HOXC4 3221 broad.mit.edu 37 12 54448006 54448006 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:54448006G>A uc001seu.2 + 3 980 c.300G>A c.(298-300)CCG>CCA p.P100P HOXC4_uc001sex.2_Silent_p.P100P NM_014620 NP_055435 P09017 HXC4_HUMAN homeobox C4 100 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TCTGCGAGCCGGCGCCTCTCT 0.731 NaN 0 0 0 0.000602 0 5 24 FRS2 10818 broad.mit.edu 37 12 69964277 69964277 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:69964277G>A uc001suy.2 + 7 743 c.233G>A c.(232-234)CGA>CAA p.R78Q FRS2_uc001suz.2_Missense_Mutation_p.R78Q|FRS2_uc009zrj.2_Missense_Mutation_p.R78Q|FRS2_uc009zrk.2_Missense_Mutation_p.R78Q NM_006654 NP_006645 Q8WU20 FRS2_HUMAN fibroblast growth factor receptor substrate 2 78 IRS-type PTB. activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway endomembrane system|endosome|integral to plasma membrane|membrane fraction fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity prostate(1)|kidney(1) 2 Breast(13;2.15e-06)|Esophageal squamous(21;0.187) Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) GAAAGTGGTCGAAGGTGTCAA 0.363 NaN 0 0 0 0.010729 0 12 41 PLXNC1 10154 broad.mit.edu 37 12 94691157 94691157 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:94691157C>G uc001tdc.2 + 26 4281 c.4032C>G c.(4030-4032)TTC>TTG p.F1344L PLXNC1_uc010sut.1_Missense_Mutation_p.F391L|PLXNC1_uc009zsv.2_Missense_Mutation_p.F83L NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1344 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 AGCACAAGTTCAAAGTAAAAG 0.448 NaN 0 0 0 0.000602 0 5 27 UTP20 27340 broad.mit.edu 37 12 101767492 101767492 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:101767492G>A uc001tia.1 + 54 7234 c.7078G>A c.(7078-7080)GAG>AAG p.E2360K NM_014503 NP_055318 O75691 UTP20_HUMAN down-regulated in metastasis 2360 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding ovary(2)|breast(2) 4 AATCAGCCTCGAGAAAAAAGA 0.418 NaN 0 0 0 0.008291 0 9 57 TXNRD1 7296 broad.mit.edu 37 12 104725378 104725378 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:104725378G>A uc010swk.1 + 14 1631 c.1609G>A c.(1609-1611)GAG>AAG p.E537K TXNRD1_uc010swl.1_Missense_Mutation_p.E387K|TXNRD1_uc010swm.1_Missense_Mutation_p.E439K|TXNRD1_uc010swn.1_Missense_Mutation_p.E387K|TXNRD1_uc010swo.1_Missense_Mutation_p.E387K|TXNRD1_uc010swp.1_Missense_Mutation_p.E349K|TXNRD1_uc010swq.1_Missense_Mutation_p.E437K|TXNRD1_uc001tku.2_RNA|TXNRD1_uc009zun.2_Missense_Mutation_p.E453K NM_001093771 NP_001087240 Q16881 TRXR1_HUMAN thioredoxin reductase 1 isoform 3 537 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity 0 TGGCCTTTCTGAGGAGAAAGC 0.338 NaN 0 0 0 0.00308 0 5 23 APPL2 55198 broad.mit.edu 37 12 105600843 105600843 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:105600843C>T uc001tlf.1 - 8 835 c.617G>A c.(616-618)GGA>GAA p.G206E APPL2_uc010swt.1_Missense_Mutation_p.G163E|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.G212E|APPL2_uc009zuq.2_Missense_Mutation_p.G163E NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH 206 Required for RAB5A binding (By similarity). cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 CCCTACCTGTCCATGGGCAAA 0.557 NaN 0 0 0 0.00245 0 14 49 APPL2 55198 broad.mit.edu 37 12 105601808 105601808 + Splice_Site SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:105601808C>G uc001tlf.1 - 7 634 c.416_splice c.e7-1 p.E139_splice APPL2_uc010swt.1_Splice_Site_p.E96_splice|APPL2_uc001tlg.1_Splice_Site|APPL2_uc010swu.1_Missense_Mutation_p.E145Q|APPL2_uc009zuq.2_Splice_Site_p.E96_splice NM_018171 NP_060641 Q8NEU8 DP13B_HUMAN adaptor protein, phosphotyrosine interaction, PH cell cycle|cell proliferation|signal transduction early endosome membrane|nucleus protein binding upper_aerodigestive_tract(1) 1 AGGTCATGCTCTAAAAATAAA 0.443 NaN 0 0 0 0.005443 0 27 153 TCP11L2 255394 broad.mit.edu 37 12 106740129 106740129 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:106740129C>T uc001tln.2 + 10 1555 c.1381C>T c.(1381-1383)CCT>TCT p.P461S NM_152772 NP_689985 Q8N4U5 T11L2_HUMAN t-complex 11 (mouse) like 2 461 ovary(3) 3 ATGCATGCCTCCTATGCCAGG 0.418 NaN 0 0 0 0.006214 0 8 49 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:106820987C>T uc001tlp.2 + 13 1336 c.1114C>T c.(1114-1116)CTT>TTT p.L372F POLR3B_uc001tlq.2_Missense_Mutation_p.L314F NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTTATCTCTTCTTTTTGAAGA 0.274 NaN 0 0 0 0.00308 0 8 16 RIC8B 55188 broad.mit.edu 37 12 107208957 107208957 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:107208957G>A uc001tlx.2 + 3 741 c.616G>A c.(616-618)GAT>AAT p.D206N RIC8B_uc001tlw.2_Missense_Mutation_p.D206N|RIC8B_uc001tly.2_Missense_Mutation_p.D166N|RIC8B_uc001tlz.2_RNA NM_018157 NP_060627 Q9NVN3 RIC8B_HUMAN resistance to inhibitors of cholinesterase 8 206 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity ovary(1) 1 CAAGTGGACCGATGAGTATGA 0.507 NaN 0 0 0 0.006122 0 18 88 ACAD10 80724 broad.mit.edu 37 12 112194215 112194215 + Missense_Mutation SNP G G A rs142030532 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:112194215G>A uc001tsq.2 + 21 3318 c.3118G>A c.(3118-3120)GAC>AAC p.D1040N ACAD10_uc009zvx.2_Missense_Mutation_p.D1071N|ACAD10_uc001tss.1_Intron NM_025247 NP_079523 Q6JQN1 ACD10_HUMAN acyl-Coenzyme A dehydrogenase family, member 10 1040 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups ovary(2) 2 GCGCTTTGCCGACGGCCCTGA 0.647 NaN 0 0 0 0.004482 0 9 32 NAA25 80018 broad.mit.edu 37 12 112477060 112477060 + Missense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:112477060C>A uc001ttm.2 - 22 2642 c.2622G>T c.(2620-2622)AAG>AAT p.K874N NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.K846N|NAA25_uc009zwa.1_Missense_Mutation_p.K852N NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 874 Poly-Lys. cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 CTTTTTTCTTCTTTTTCTTTT 0.343 NaN 1 0 1.5842e-08 0.001855 1.67396e-08 13 47 C12orf51 283450 broad.mit.edu 37 12 112609068 112609068 + Splice_Site SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:112609068C>T uc009zwc.2 - 61 10538 c.10520_splice c.e61-1 p.N3507_splice NM_001109662 NP_001103132 chromosome 12 open reading frame 51 ovary(1)|lung(1) 2 ATGGGCACGTCTGAGGGCGCA 0.622 NaN 0 0 0 0.001168 0 5 9 MED13L 23389 broad.mit.edu 37 12 116420239 116420239 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:116420239C>T uc001tvw.2 - 22 5180 c.5125G>A c.(5125-5127)GAA>AAA p.E1709K NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 1709 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCCAGCATTTCTGTGTAGCAG 0.393 NaN 0 0 0 0.003954 0 23 99 WDR66 144406 broad.mit.edu 37 12 122398579 122398579 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:122398579G>A uc009zxk.2 + 14 2364 c.2222G>A c.(2221-2223)CGC>CAC p.R741H NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 741 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CGCTCTCATCGCAAAAGCATT 0.488 NaN 0 0 0 0.004482 0 8 100 GTF2H3 2967 broad.mit.edu 37 12 124132646 124132646 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:124132646G>A uc001ufo.1 + 4 363 c.337G>A c.(337-339)GAA>AAA p.E113K GTF2H3_uc010tau.1_Missense_Mutation_p.E72K NM_001516 NP_001507 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 113 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) AGTTATTGTTGAAGAGATTAA 0.353 NaN NER 0 0 0 0.001855 0 13 69 ULK1 8408 broad.mit.edu 37 12 132380333 132380333 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:132380333G>A uc001uje.2 + 3 478 c.210G>A c.(208-210)CTG>CTA p.L70L NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 70 Protein kinase. autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) CCTAGGAACTGAAACATGAAA 0.632 NaN 0 0 0 0.006214 0 9 59 ANKLE2 23141 broad.mit.edu 37 12 133327431 133327431 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:133327431C>G uc001ukx.2 - 3 712 c.645G>C c.(643-645)AGG>AGC p.R215S ANKLE2_uc001uky.3_Missense_Mutation_p.R153S NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 215 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) AAACATAGATCCTTTCTGGGT 0.423 NaN 0 0 0 0.004482 0 8 74 LATS2 26524 broad.mit.edu 37 13 21562346 21562346 + Missense_Mutation SNP G G A rs147172274 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:21562346G>A uc009zzs.2 - 4 1938 c.1573C>T c.(1573-1575)CGC>TGC p.R525C LATS2_uc001unr.3_Missense_Mutation_p.R525C NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 525 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) GACTTGCTGCGCAGCAGCAGG 0.726 NaN 0 0 0 0.00308 0 8 47 CENPJ 55835 broad.mit.edu 37 13 25457361 25457361 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:25457361C>G uc001upt.3 - 17 4224 c.3971G>C c.(3970-3972)AGA>ACA p.R1324T CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 1324 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) GTCCTTAACTCTTATCCGACC 0.428 NaN 0 0 0 0.004672 0 3 150 TRPC4 7223 broad.mit.edu 37 13 38225536 38225536 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:38225536C>T uc001uws.2 - 8 2180 c.1945G>A c.(1945-1947)GAA>AAA p.E649K TRPC4_uc010abv.2_Missense_Mutation_p.E229K|TRPC4_uc001uwt.2_Missense_Mutation_p.E649K|TRPC4_uc010tey.1_Missense_Mutation_p.E649K|TRPC4_uc010abw.2_Missense_Mutation_p.E476K|TRPC4_uc010abx.2_Missense_Mutation_p.E649K|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 649 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GTACCTCCTTCTTCAAAATAA 0.428 NaN 0 0 0 0.008871 0 18 49 ELF1 1997 broad.mit.edu 37 13 41507794 41507794 + Nonsense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:41507794G>A uc001uxs.2 - 9 2000 c.1627C>T c.(1627-1629)CAG>TAG p.Q543* ELF1_uc010tfc.1_Nonsense_Mutation_p.Q519*|ELF1_uc010acd.2_Nonsense_Mutation_p.Q436* NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 543 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) GCAACCAGCTGTGAACTGCGA 0.453 NaN 0 0 0 0.008291 0 10 99 DNAJC15 29103 broad.mit.edu 37 13 43643082 43643082 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:43643082G>A uc001uyy.2 + 3 578 c.177G>A c.(175-177)CGG>CGA p.R59R NM_013238 NP_037370 Q9Y5T4 DJC15_HUMAN DNAJ domain-containing 59 integral to membrane heat shock protein binding 0 Lung NSC(96;4.3e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) GBM - Glioblastoma multiforme(144;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0737) ACGCATTTCGGATCTGGAAAC 0.333 NaN 0 0 0 0.009096 0 3 35 TSC22D1 8848 broad.mit.edu 37 13 45147767 45147767 + Nonsense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:45147767G>C uc001uzn.3 - 1 2935 c.2444C>G c.(2443-2445)TCA>TGA p.S815* TSC22D1_uc001uzo.1_Intron NM_183422 NP_904358 Q15714 T22D1_HUMAN TSC22 domain family, member 1 isoform 1 815 Gln-rich. transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118) CAACTGCTGTGAAACAATTCC 0.468 NaN 0 0 0 0.00499 0 18 101 ZC3H13 23091 broad.mit.edu 37 13 46559516 46559516 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:46559516C>G uc010tfw.1 - 9 1642 c.1636G>C c.(1636-1638)GAG>CAG p.E546Q ZC3H13_uc001vas.1_Missense_Mutation_p.E546Q|ZC3H13_uc001vat.1_Missense_Mutation_p.E546Q NM_015070 NP_055885 Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 546 Arg/Ser-rich. nucleic acid binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) TTTCTGGACTCATTCCTTATT 0.438 NaN 0 0 0 0.001168 0 6 76 CPB2 1361 broad.mit.edu 37 13 46656653 46656653 + Nonsense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:46656653G>A uc001vaw.2 - 4 374 c.307C>T c.(307-309)CAA>TAA p.Q103* uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Nonsense_Mutation_p.Q103* NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 103 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ATCTGCTGTTGAATAAGATCT 0.483 NaN 0 0 0 0.003954 0 23 63 DHRS12 79758 broad.mit.edu 37 13 52373793 52373793 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:52373793C>T uc001vfq.2 - 2 115 c.67G>A c.(67-69)GAA>AAA p.E23K DHRS12_uc001vfr.1_Missense_Mutation_p.M1I|DHRS12_uc001vfs.1_Missense_Mutation_p.M1I A0PJE2 DHR12_HUMAN RecName: Full=Dehydrogenase/reductase SDR family member 12; EC=1.1.-.-; 23 binding|oxidoreductase activity 0 Breast(56;0.00173)|Prostate(109;0.00899)|Lung NSC(96;0.0199)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.81e-08) CATGCAGATTCATAGCCACTC 0.493 NaN 0 0 0 0.00361 0 78 104 CKAP2 26586 broad.mit.edu 37 13 53036693 53036693 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:53036693G>C uc001vgv.2 + 5 1496 c.1299G>C c.(1297-1299)TTG>TTC p.L433F CKAP2_uc001vgt.2_Missense_Mutation_p.L432F|CKAP2_uc001vgu.2_Missense_Mutation_p.L432F|CKAP2_uc010tha.1_Missense_Mutation_p.L384F NM_001098525 NP_001091995 Q8WWK9 CKAP2_HUMAN cytoskeleton associated protein 2 isoform 2 433 apoptosis|cell cycle centrosome|microtubule|spindle pole ovary(1)|skin(1) 2 Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.6e-08) GCCTGAACTTGATTAATGAGG 0.229 NaN 0 0 0 0.009096 0 4 48 DIAPH3 81624 broad.mit.edu 37 13 60348372 60348372 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:60348372C>T uc001vht.2 - 27 3489 c.3270G>A c.(3268-3270)CAG>CAA p.Q1090Q DIAPH3_uc001vhu.2_Silent_p.Q827Q NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 1090 actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) GACTGAGACTCTGCCGAACAT 0.323 NaN 0 0 0 0.010504 0 19 20 TBC1D4 9882 broad.mit.edu 37 13 75869130 75869130 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:75869130G>C uc001vjl.1 - 18 3523 c.3176C>G c.(3175-3177)TCC>TGC p.S1059C TBC1D4_uc010tht.1_Missense_Mutation_p.S269C|TBC1D4_uc010thu.1_Missense_Mutation_p.S216C|TBC1D4_uc010aer.2_Missense_Mutation_p.S1051C|TBC1D4_uc010aes.2_Missense_Mutation_p.S996C NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1059 Rab-GAP TBC. cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AAGGAGCCTGGACAGCTGGTA 0.358 NaN 0 0 0 0.00245 0 13 66 RNF113B 140432 broad.mit.edu 37 13 98829136 98829136 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:98829136C>T uc001vnk.2 - 1 386 c.355G>A c.(355-357)GAG>AAG p.E119K FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 119 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) TGCTCCTTCTCGGTGTCCTGC 0.667 NaN 0 0 0 0.002299 0 22 35 OR4E2 26686 broad.mit.edu 37 14 22133602 22133602 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:22133602C>T uc010tmd.1 + 1 306 c.306C>T c.(304-306)TTC>TTT p.F102F NM_001001912 NP_001001912 Q8NGC2 OR4E2_HUMAN olfactory receptor, family 4, subfamily E, 102 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0137) CACAGCTCTTCTTCCTACATC 0.463 NaN 0 0 0 0.00361 0 81 130 MMP14 4323 broad.mit.edu 37 14 23312531 23312531 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:23312531G>T uc001whc.2 + 5 988 c.754G>T c.(754-756)GAC>TAC p.D252Y NM_004995 NP_004986 P50281 MMP14_HUMAN matrix metalloproteinase 14 preproprotein 252 Extracellular (Potential). extracellular matrix|integral to plasma membrane|melanosome calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 all_cancers(95;9.47e-05) GBM - Glioblastoma multiforme(265;0.00551) GCATTCCAGTGACCCCTCGGC 0.582 NaN 1 0 3.45872e-05 0.004007 3.57798e-05 14 40 LRP10 26020 broad.mit.edu 37 14 23346713 23346713 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:23346713G>A uc001whd.2 + 7 2672 c.2119G>A c.(2119-2121)GAG>AAG p.E707K LRP10_uc001whe.2_Intron NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 707 Cytoplasmic (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) AGCTGAGGCAGAGGATGAGCC 0.627 NaN 0 0 0 0.00308 0 7 7 PSME1 5720 broad.mit.edu 37 14 24607692 24607692 + Missense_Mutation SNP C C T rs144591736 by1000genomes TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:24607692C>T uc001wmg.2 + 10 686 c.592C>T c.(592-594)CGG>TGG p.R198W PSME1_uc001wmh.2_Missense_Mutation_p.R198W NM_006263 NP_006254 Q06323 PSME1_HUMAN proteasome activator subunit 1 isoform 1 198 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|proteasome activator complex ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00831) GGGTGATTATCGGCAGCTGGT 0.607 NaN 0 0 0 0.004656 0 27 105 ARHGAP5 394 broad.mit.edu 37 14 32560018 32560018 + Missense_Mutation SNP A A G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:32560018A>G uc001wrl.2 + 2 382 c.143A>G c.(142-144)GAA>GGA p.E48G ARHGAP5_uc001wrm.2_Missense_Mutation_p.E48G|ARHGAP5_uc001wrn.2_Missense_Mutation_p.E48G|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 48 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AAAGCAGATGAATATTATCCA 0.383 NaN 0 0 0 0.002299 0 21 40 ARHGAP5 394 broad.mit.edu 37 14 32560228 32560228 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:32560228G>A uc001wrl.2 + 2 592 c.353G>A c.(352-354)CGT>CAT p.R118H ARHGAP5_uc001wrm.2_Missense_Mutation_p.R118H|ARHGAP5_uc001wrn.2_Missense_Mutation_p.R118H|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 118 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TATATAAAACGTGCAGCTGCA 0.388 NaN 0 0 0 0.006214 0 9 37 LRFN5 145581 broad.mit.edu 37 14 42355925 42355925 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:42355925C>G uc001wvm.2 + 3 1295 c.97C>G c.(97-99)CTT>GTT p.L33V LRFN5_uc010ana.2_Missense_Mutation_p.L33V NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 33 Extracellular (Potential).|LRRNT. 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) GTCTCCTAATCTTGCAACCCT 0.383 NaN HNSCC(30;0.082) 0 0 0 0.001984 0 7 34 OTX2 5015 broad.mit.edu 37 14 57270957 57270957 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:57270957G>A uc001xcp.2 - 2 369 c.198C>T c.(196-198)TTC>TTT p.F66F OTX2_uc010aou.2_Silent_p.F66F|OTX2_uc001xcq.2_Silent_p.F74F NM_172337 NP_758840 P32243 OTX2_HUMAN orthodenticle homeobox 2 isoform b 66 Homeobox. axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway growth cone|nucleus|protein complex eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding ovary(1) 1 Medulloblastoma(1;0.00184)|all_neural(1;0.00414) CCTCTCGCATGAAGATGTCTG 0.597 NaN 0 0 0 0.012319 0 21 31 SYNE2 23224 broad.mit.edu 37 14 64519306 64519306 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:64519306C>T uc001xgm.2 + 48 8905 c.8675C>T c.(8674-8676)TCA>TTA p.S2892L SYNE2_uc001xgl.2_Missense_Mutation_p.S2892L NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2892 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AGTGGAATCTCAACACATCTT 0.413 NaN 0 0 0 0.012319 0 21 17 C14orf43 91748 broad.mit.edu 37 14 74196502 74196502 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:74196502C>T uc001xot.2 - 4 2719 c.1936G>A c.(1936-1938)GAG>AAG p.E646K C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.E646K|C14orf43_uc010tud.1_Missense_Mutation_p.E646K|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) AAGCTCCGCTCAGAGGGGTGG 0.622 NaN 0 0 0 0.001855 0 14 19 C14orf43 91748 broad.mit.edu 37 14 74196685 74196685 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:74196685C>G uc001xot.2 - 4 2536 c.1753G>C c.(1753-1755)GAG>CAG p.E585Q C14orf43_uc001xos.2_5'Flank|C14orf43_uc001xou.2_Missense_Mutation_p.E585Q|C14orf43_uc010tud.1_Missense_Mutation_p.E585Q|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 585 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) TTCATGTCCTCTGCCTGGAGA 0.567 NaN 0 0 0 0.006214 0 10 26 C14orf43 91748 broad.mit.edu 37 14 74205546 74205546 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:74205546G>C uc001xot.2 - 2 1949 c.1166C>G c.(1165-1167)TCC>TGC p.S389C C14orf43_uc001xou.2_Missense_Mutation_p.S389C|C14orf43_uc010tud.1_Missense_Mutation_p.S389C|C14orf43_uc010arw.2_RNA NM_194278 NP_919254 Q6PJG2 CN043_HUMAN hypothetical protein LOC91748 389 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115) CTGCCCCAGGGAGCCAGGTGG 0.677 NaN 0 0 0 0.001984 0 6 11 RPS6KA5 9252 broad.mit.edu 37 14 91372604 91372604 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:91372604C>G uc001xys.2 - 8 1061 c.846G>C c.(844-846)ATG>ATC p.M282I RPS6KA5_uc010twi.1_Missense_Mutation_p.M203I|RPS6KA5_uc001xyt.2_Missense_Mutation_p.M282I|RPS6KA5_uc010att.1_RNA NM_004755 NP_004746 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, polypeptide 5 282 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) CTAAAGCACTCATTTCTTGGG 0.383 NaN 0 0 0 0.009096 0 4 55 UBR7 55148 broad.mit.edu 37 14 93693381 93693381 + Nonstop_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:93693381G>C uc001ybm.3 + 11 1514 c.1278G>C c.(1276-1278)TAG>TAC p.*426Y UBR7_uc001ybn.3_Nonstop_Mutation_p.*350Y|UBR7_uc010auq.2_Nonstop_Mutation_p.*275Y NM_175748 NP_786924 Q8N806 UBR7_HUMAN ubiquitin protein ligase E3 component n-recognin 426 ubiquitin-protein ligase activity|zinc ion binding 0 ACTGCAGCTAGAGTGGAGTAT 0.428 NaN 0 0 0 0.006214 0 10 35 DDX24 57062 broad.mit.edu 37 14 94526925 94526925 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:94526925C>T uc001ycj.2 - 5 1531 c.1432G>A c.(1432-1434)GAG>AAG p.E478K DDX24_uc010twq.1_Missense_Mutation_p.E435K|DDX24_uc010twr.1_Missense_Mutation_p.E228K NM_020414 NP_065147 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 478 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|skin(1) 4 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) TGGCCTTTCTCAACCATCCGG 0.493 NaN 0 0 0 0.001855 0 14 49 SERPINA9 327657 broad.mit.edu 37 14 94929550 94929550 + Silent SNP C C T rs139618805 by1000genomes TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:94929550C>T uc001ydf.2 - 5 1349 c.1188G>A c.(1186-1188)TCG>TCA p.S396S SERPINA9_uc001yde.2_Silent_p.S296S|SERPINA9_uc010avc.2_Silent_p.S247S|SERPINA9_uc001ydg.2_Silent_p.S360S NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 378 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) GGCCATCCTTCGATCGGACTA 0.498 NaN 0 0 0 0.010504 0 20 41 SERPINA12 145264 broad.mit.edu 37 14 94956013 94956013 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:94956013C>G uc001ydj.2 - 5 1793 c.997G>C c.(997-999)GAG>CAG p.E333Q NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 333 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) CCATGTTCCTCAAAGATTTTG 0.562 NaN 0 0 0 0.001368 0 12 24 GJD2 57369 broad.mit.edu 37 15 35044759 35044759 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:35044759C>T uc001zis.1 - 2 886 c.886G>A c.(886-888)GAG>AAG p.E296K uc001zit.1_5'Flank NM_020660 NP_065711 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 296 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) TTACGAATCTCATAGATTGAC 0.527 NaN 0 0 0 0.001984 0 6 36 MEIS2 4212 broad.mit.edu 37 15 37390256 37390256 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:37390256C>T uc001zjr.2 - 2 1194 c.157G>A c.(157-159)GCG>ACG p.A53T MEIS2_uc001zjl.2_Missense_Mutation_p.A40T|MEIS2_uc010ucj.1_Missense_Mutation_p.A40T|MEIS2_uc001zjm.2_5'UTR|MEIS2_uc001zjn.2_5'UTR|MEIS2_uc001zjo.2_Missense_Mutation_p.A53T|MEIS2_uc001zjp.2_Missense_Mutation_p.A53T|MEIS2_uc001zjs.2_Missense_Mutation_p.A53T|MEIS2_uc001zju.2_Missense_Mutation_p.A40T|MEIS2_uc001zjt.2_Missense_Mutation_p.A53T NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 53 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GGGGCGTGCGCGCCGTAGTGC 0.667 NaN 0 0 0 0.008291 0 8 43 MAP1A 4130 broad.mit.edu 37 15 43817277 43817277 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:43817277G>C uc001zrt.2 + 4 4073 c.3606G>C c.(3604-3606)GAG>GAC p.E1202D NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1202 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGTCAGAAGAGAGTCCCAGCA 0.537 NaN 0 0 0 0.003163 0 15 52 CASC4 113201 broad.mit.edu 37 15 44624216 44624216 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:44624216G>C uc001zto.1 + 4 815 c.516G>C c.(514-516)TTG>TTC p.L172F CASC4_uc001ztp.2_Missense_Mutation_p.L172F|CASC4_uc001ztq.2_Missense_Mutation_p.L172F|CASC4_uc010bdu.1_Intron NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a 172 Lumenal (Potential).|Potential. integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) TGAAGGAATTGAGAGCACAGC 0.269 NaN 0 0 0 0.00308 0 4 29 RPL4 6124 broad.mit.edu 37 15 66793735 66793735 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:66793735G>C uc002apv.2 - 6 710 c.654C>G c.(652-654)ATC>ATG p.I218M RPL4_uc010bhr.2_Missense_Mutation_p.I124M|RPL4_uc002apw.2_Missense_Mutation_p.I124M|RPL4_uc002apx.2_Missense_Mutation_p.I124M|RPL4_uc010ujq.1_Missense_Mutation_p.I218M|SNORD18C_uc010bhs.1_5'Flank NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 218 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 TGAAGGCCTTGATGATACCAT 0.443 NaN 0 0 0 0.005443 0 26 89 LCTL 197021 broad.mit.edu 37 15 66853624 66853624 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:66853624C>G uc002aqc.2 - 5 642 c.510G>C c.(508-510)CAG>CAC p.Q170H LCTL_uc002aqd.3_5'UTR|LCTL_uc010bhw.2_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN lactase-like precursor 170 Extracellular (Potential). carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(2) 2 TGCTCACATTCTGCCACCCAC 0.522 NaN 0 0 0 0.012319 0 18 103 ANPEP 290 broad.mit.edu 37 15 90349355 90349355 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:90349355C>G uc002bop.3 - 2 752 c.460G>C c.(460-462)GAG>CAG p.E154Q NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 154 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCCACCAGCTCAGTCTTGTCA 0.617 NaN 0 0 0 0.001855 0 11 47 UNC45A 55898 broad.mit.edu 37 15 91496469 91496469 + Missense_Mutation SNP C C T rs8041417 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr15:91496469C>T uc002bqg.2 + 19 2846 c.2506C>T c.(2506-2508)CGG>TGG p.R836W UNC45A_uc002bqd.2_Missense_Mutation_p.R821W|UNC45A_uc010uqr.1_Missense_Mutation_p.R228W|UNC45A_uc002bqi.2_Missense_Mutation_p.R114W|RCCD1_uc002bqj.2_5'Flank|RCCD1_uc002bqk.2_5'Flank|RCCD1_uc002bql.2_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 836 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCTGCTACAGCGGGCAGCTGC 0.622 NaN 0 0 0 0.005443 0 24 116 UNKL 64718 broad.mit.edu 37 16 1416391 1416391 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:1416391G>A uc010brn.1 - 9 1041 c.1023C>T c.(1021-1023)ATC>ATT p.I341I UNKL_uc002cln.2_Silent_p.I183I|UNKL_uc002clo.2_Silent_p.I180I|UNKL_uc002clp.2_Silent_p.I133I Q9H9P5 UNKL_HUMAN SubName: Full=Putative ubiquitin-protein ligase; EC=6.3.2.19; Flags: Fragment; 631 cytoplasm|nucleus ligase activity|nucleic acid binding|zinc ion binding 0 Hepatocellular(780;0.0893) GGAGCTGGAAGATCACCTGCA 0.697 NaN 0 0 0 0.004482 0 9 8 MAPK8IP3 23162 broad.mit.edu 37 16 1817918 1817918 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:1817918G>C uc002cmk.2 + 28 3639 c.3519G>C c.(3517-3519)GAG>GAC p.E1173D MAPK8IP3_uc002cml.2_Missense_Mutation_p.E1167D|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.E1174D NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 1173 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CCCTGACAGAGAGTGAGTGGC 0.657 NaN 0 0 0 0.006122 0 16 78 ZNF263 10127 broad.mit.edu 37 16 3339480 3339480 + Missense_Mutation SNP G G A rs79713839 by1000genomes TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:3339480G>A uc002cuq.2 + 6 1306 c.974G>A c.(973-975)CGA>CAA p.R325Q ZNF263_uc010uww.1_5'UTR|ZNF263_uc002cur.2_5'UTR NM_005741 NP_005732 O14978 ZN263_HUMAN zinc finger protein 263 325 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(3)|ovary(1) 4 GACCAGGCCCGAGGGGAGGTG 0.597 NaN 0 0 0 0.00632 0 26 111 NAGPA 51172 broad.mit.edu 37 16 5077281 5077281 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:5077281C>G uc002cyg.2 - 8 1295 c.1274G>C c.(1273-1275)AGA>ACA p.R425T NAGPA_uc010buc.2_Intron|NAGPA_uc002cyf.2_Intron|NAGPA_uc002cyh.2_RNA|NAGPA_uc002cyi.2_Missense_Mutation_p.R200T NM_016256 NP_057340 Q9UK23 NAGPA_HUMAN N-acetylglucosamine-1-phosphodiester 425 Lumenal (Potential). carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome Golgi cisterna membrane|integral to membrane N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity 0 N-Acetyl-D-glucosamine(DB00141) ATAGGTACCTCTGGAGACGCT 0.607 NaN 0 0 0 0.001168 0 6 46 TXNDC11 51061 broad.mit.edu 37 16 11792004 11792004 + Missense_Mutation SNP C C T rs143169078 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:11792004C>T uc010buu.1 - 8 1227 c.1165G>A c.(1165-1167)GAA>AAA p.E389K TXNDC11_uc002dbg.1_Missense_Mutation_p.E362K NM_015914 NP_056998 Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 389 cell redox homeostasis endoplasmic reticulum membrane|integral to membrane 0 GGATGACTTTCGGCCAGGGGA 0.512 NaN 0 0 0 0.006122 0 15 89 DNAH3 55567 broad.mit.edu 37 16 21063188 21063188 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:21063188G>A uc010vbe.1 - 29 4041 c.4041C>T c.(4039-4041)GCC>GCT p.A1347A NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1347 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CCACGTCGCGGGCTGTTGGGA 0.522 NaN 0 0 0 0.010504 0 20 44 DNAH3 55567 broad.mit.edu 37 16 21086798 21086798 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:21086798C>T uc010vbe.1 - 21 3054 c.3054G>A c.(3052-3054)GTG>GTA p.V1018V NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1018 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) AGCTGAACGTCACGTTAACCC 0.453 NaN 0 0 0 0.001855 0 12 58 DNAH3 55567 broad.mit.edu 37 16 21132082 21132082 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:21132082C>T uc010vbe.1 - 11 1678 c.1678G>A c.(1678-1680)GCG>ACG p.A560T DNAH3_uc002die.2_Intron NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 560 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GTGGCAGCCGCGTGCATGCTG 0.507 NaN 0 0 0 0.000602 0 5 25 KIAA0556 23247 broad.mit.edu 37 16 27640096 27640096 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:27640096G>A uc002dow.2 + 4 279 c.255G>A c.(253-255)CGG>CGA p.R85R NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 85 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 CATCACCGCGGAAAGCTATTC 0.532 NaN 0 0 0 0.010729 0 12 97 SRCAP 10847 broad.mit.edu 37 16 30721411 30721411 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:30721411G>A uc002dze.1 + 8 1481 c.1096G>A c.(1096-1098)GAA>AAA p.E366K SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.E223K|SRCAP_uc010bzz.1_5'UTR|SNORA30_uc002dzh.1_5'Flank NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 366 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) AGATGGGCCTGAAGAAGGTGC 0.587 NaN 0 0 0 0.000602 0 5 21 FBXL19 54620 broad.mit.edu 37 16 30941563 30941563 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:30941563C>T uc002eab.2 + 7 1177 c.1019C>T c.(1018-1020)TCG>TTG p.S340L FBXL19_uc002dzz.1_Missense_Mutation_p.S28L|FBXL19_uc002eaa.1_Missense_Mutation_p.S239L NM_001099784 NP_001093254 Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 340 Ser-rich. DNA binding|zinc ion binding ovary(2)|lung(1)|breast(1) 4 TCGGGCACATCGCTGAGTGAG 0.677 NaN 0 0 0 0.004482 0 7 41 SETD1A 9739 broad.mit.edu 37 16 30991419 30991419 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:30991419G>C uc002ead.1 + 14 4998 c.4312G>C c.(4312-4314)GAG>CAG p.E1438Q NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1438 Interaction with CFP1. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CCTGGACTCAGAGGACATGAG 0.458 NaN 0 0 0 0.004672 0 3 26 N4BP1 9683 broad.mit.edu 37 16 48595890 48595890 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:48595890C>T uc002efp.2 - 2 901 c.664G>A c.(664-666)GGG>AGG p.G222R NM_153029 NP_694574 O75113 N4BP1_HUMAN Nedd4 binding protein 1 222 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body 0 all_cancers(37;0.179)|all_lung(18;0.11) ATATTCAGCCCTGTGGCAGCA 0.408 NaN 0 0 0 0.001984 0 7 32 PDP2 57546 broad.mit.edu 37 16 66919264 66919264 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:66919264G>A uc002eqk.1 + 2 1239 c.1077G>A c.(1075-1077)TTG>TTA p.L359L NM_020786 NP_065837 Q9P2J9 PDP2_HUMAN pyruvate dehydrogenase phosphatase isoenzyme 2 359 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GTAAAGAGTTGCAGCGCAGCA 0.557 NaN 0 0 0 0.009096 0 4 54 FHOD1 29109 broad.mit.edu 37 16 67271177 67271177 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:67271177C>T uc002esl.2 - 9 1070 c.958G>A c.(958-960)GAC>AAC p.D320N FHOD1_uc010ced.2_Missense_Mutation_p.D127N|FHOD1_uc010vjh.1_5'UTR NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 320 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(2)|ovary(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGGTCGACGTCAGTGCCCGCA 0.657 NaN 0 0 0 0.001368 0 12 37 ATP6V0D1 9114 broad.mit.edu 37 16 67514862 67514862 + Missense_Mutation SNP T T A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:67514862T>A uc002ete.1 - 1 228 c.128A>T c.(127-129)GAG>GTG p.E43V ATP6V0D1_uc010vjo.1_Missense_Mutation_p.E43V NM_004691 NP_004682 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 43 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CGGCTCACCCTCTAGCGTCTC 0.672 NaN 0 0 0 0.004007 0 13 38 ATP6V0D1 9114 broad.mit.edu 37 16 67514906 67514906 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:67514906G>C uc002ete.1 - 1 184 c.84C>G c.(82-84)CTC>CTG p.L28L ATP6V0D1_uc010vjo.1_Silent_p.L28L NM_004691 NP_004682 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 28 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CGGCCTGGCTGAGCACCCCGG 0.652 NaN 0 0 0 0.007413 0 15 42 HAS3 3038 broad.mit.edu 37 16 69143494 69143494 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:69143494G>C uc010cfh.2 + 2 420 c.196G>C c.(196-198)GAG>CAG p.E66Q HAS3_uc002ewk.2_Missense_Mutation_p.E66Q|HAS3_uc010vlk.1_Missense_Mutation_p.E66Q|HAS3_uc002ewl.2_Missense_Mutation_p.E66Q NM_005329 NP_005320 O00219 HAS3_HUMAN hyaluronan synthase 3 isoform a 66 Cytoplasmic (Potential). carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity 0 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TGCCTTCCTGGAGCACCGGCG 0.647 NaN 0 0 0 0.006214 0 8 32 DDX19A 55308 broad.mit.edu 37 16 70400696 70400696 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:70400696G>A uc002eyv.2 + 9 1023 c.952G>A c.(952-954)GAG>AAG p.E318K DDX19B_uc010vly.1_Intron|DDX19A_uc002eys.2_Missense_Mutation_p.E319K|DDX19A_uc010cfq.1_Missense_Mutation_p.E73K|DDX19A_uc010cfr.2_Missense_Mutation_p.E168K|DDX19A_uc010cfs.2_Missense_Mutation_p.E141K|DDX19A_uc010vlz.1_Missense_Mutation_p.E287K|DDX19A_uc010vma.1_Missense_Mutation_p.E228K NM_018332 NP_060802 Q9NUU7 DD19A_HUMAN DDX19-like protein 318 Helicase C-terminal. mRNA transport|protein transport|transmembrane transport cytoplasm|nuclear membrane|nuclear pore ATP binding|ATP-dependent helicase activity|RNA binding 0 Ovarian(137;0.221) CAGCAGAGACGAGAAGTTCCA 0.542 NaN 0 0 0 0.004007 0 16 79 FOXL1 2300 broad.mit.edu 37 16 86612413 86612413 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:86612413C>G uc002fjr.2 + 1 299 c.84C>G c.(82-84)CTC>CTG p.L28L NM_005250 NP_005241 Q12952 FOXL1_HUMAN forkhead box L1 28 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding skin(1) 1 GACCCGGCCTCCCTCTGGCCT 0.692 NaN 0 0 0 0.010729 0 6 41 KLHDC4 54758 broad.mit.edu 37 16 87744970 87744970 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:87744970C>T uc002fki.2 - 9 961 c.915G>A c.(913-915)CCG>CCA p.P305P KLHDC4_uc002fkh.1_5'Flank|KLHDC4_uc010cht.1_Silent_p.P124P|KLHDC4_uc002fkj.2_Silent_p.P274P|KLHDC4_uc002fkk.2_Silent_p.P124P|KLHDC4_uc002fkl.2_Silent_p.P248P|KLHDC4_uc010chu.1_Silent_p.P124P NM_017566 NP_060036 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 305 pancreas(2) 2 BRCA - Breast invasive adenocarcinoma(80;0.0283) TCTGGTGATTCGGGGCCATGG 0.567 NaN 0 0 0 0.010729 0 12 62 FANCA 2175 broad.mit.edu 37 16 89862344 89862344 + Nonsense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:89862344G>A uc002fou.1 - 11 1018 c.976C>T c.(976-978)CAG>TAG p.Q326* FANCA_uc010vpn.1_Nonsense_Mutation_p.Q326* NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 326 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) GTGAGTATCTGAGTCAGGGTA 0.512 NaN D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia 0 0 0 0.006214 0 10 46 TCF25 22980 broad.mit.edu 37 16 89940210 89940210 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr16:89940210C>T uc002fpb.2 + 1 217 c.135C>T c.(133-135)GTC>GTT p.V45V TCF25_uc010vpp.1_Silent_p.V45V NM_014972 NP_055787 Q9BQ70 TCF25_HUMAN NULP1 45 heart development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027) BRCA - Breast invasive adenocarcinoma(80;0.0288) AGCTTGGTGTCCGGCGTCCCG 0.701 NaN 0 0 0 0.009096 0 4 12 FAM101B 359845 broad.mit.edu 37 17 293277 293277 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:293277G>A uc002frj.2 - 2 387 c.113C>T c.(112-114)TCC>TTC p.S38F NM_182705 NP_874364 Q8N5W9 F101B_HUMAN hypothetical protein LOC359845 108 0 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.0216) CTTGACCAAGGAGGTGTACCT 0.657 NaN 0 0 0 0.008291 0 10 48 SCARF1 8578 broad.mit.edu 37 17 1548932 1548932 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:1548932G>A uc002fsz.1 - 1 110 c.60C>T c.(58-60)TCC>TCT p.S20S SCARF1_uc002fsy.1_Silent_p.S20S|SCARF1_uc002fta.1_RNA|SCARF1_uc010cjv.1_Silent_p.S20S NM_003693 NP_003684 Q14162 SREC_HUMAN scavenger receptor class F, member 1 isoform 1 20 Extracellular (Potential). cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GGTCCAGCTCGGACCCCTGAG 0.687 NaN 0 0 0 0.009096 0 3 3 OR3A1 4994 broad.mit.edu 37 17 3195373 3195373 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:3195373C>T uc002fvh.1 - 1 504 c.504G>A c.(502-504)ACG>ACA p.T168T NM_002550 NP_002541 P47881 OR3A1_HUMAN olfactory receptor, family 3, subfamily A, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|central_nervous_system(1) 3 AGAAGTTGAGCGTGGACATGG 0.567 NaN 0 0 0 0.00361 0 44 74 CAMTA2 23125 broad.mit.edu 37 17 4877755 4877755 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:4877755C>G uc002gah.1 - 12 2049 c.1941G>C c.(1939-1941)CAG>CAC p.Q647H CAMTA2_uc010cku.1_Missense_Mutation_p.Q670H|CAMTA2_uc002gag.1_Missense_Mutation_p.Q646H|CAMTA2_uc002gai.1_Missense_Mutation_p.Q649H|CAMTA2_uc010ckv.1_Missense_Mutation_p.Q294H NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 647 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GCTTCTCCATCTGCTCCAGTC 0.587 NaN 0 0 0 0.006214 0 10 48 TP53 7157 broad.mit.edu 37 17 7578419 7578419 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:7578419C>T uc002gim.2 - 5 705 c.511G>A c.(511-513)GAG>AAG p.E171K TP53_uc002gig.1_Missense_Mutation_p.E171K|TP53_uc002gih.2_Missense_Mutation_p.E171K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E39K|TP53_uc010cng.1_Missense_Mutation_p.E39K|TP53_uc002gii.1_Missense_Mutation_p.E39K|TP53_uc010cnh.1_Missense_Mutation_p.E171K|TP53_uc010cni.1_Missense_Mutation_p.E171K|TP53_uc002gij.2_Missense_Mutation_p.E171K|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.E78K|TP53_uc002gio.2_Missense_Mutation_p.E39K|TP53_uc010vug.1_Missense_Mutation_p.E132K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 171 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E171*(10)|p.E171K(8)|p.0?(7)|p.E171G(3)|p.E171Q(3)|p.E171fs*10(3)|p.E171fs*3(2)|p.E171V(2)|p.E171D(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.E171fs*9(1)|p.T170fs*2(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.E171_V172delEV(1)|p.H168fs*69(1)|p.T170_E171insXX(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)|p.E171A(1)|p.H168fs*3(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CTCACAACCTCCGTCATGTGC 0.662 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00278 0 22 36 TP53 7157 broad.mit.edu 37 17 7578493 7578493 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:7578493C>G uc002gim.2 - 5 631 c.437G>C c.(436-438)TGG>TCG p.W146S TP53_uc002gig.1_Missense_Mutation_p.W146S|TP53_uc002gih.2_Missense_Mutation_p.W146S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.W14S|TP53_uc010cng.1_Missense_Mutation_p.W14S|TP53_uc002gii.1_Missense_Mutation_p.W14S|TP53_uc010cnh.1_Missense_Mutation_p.W146S|TP53_uc010cni.1_Missense_Mutation_p.W146S|TP53_uc002gij.2_Missense_Mutation_p.W146S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.W53S|TP53_uc002gio.2_Missense_Mutation_p.W14S|TP53_uc010vug.1_Missense_Mutation_p.W107S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 146 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). W -> S (in sporadic cancers; somatic mutation).|W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.W146*(61)|p.0?(7)|p.W146R(5)|p.W146C(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.W146_S149>C(1)|p.W146fs*25(1)|p.W146S(1)|p.Q144fs*32(1)|p.W146fs*1(1)|p.W146_V147insXXXXXXX(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W146G(1)|p.V143_S149del(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGAATCAACCCACAGCTGCAC 0.602 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.006122 0 17 25 MYH8 4626 broad.mit.edu 37 17 10310054 10310054 + Missense_Mutation SNP A A C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:10310054A>C uc002gmm.2 - 19 2219 c.2124T>G c.(2122-2124)TGT>TGG p.C708W uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 708 Myosin head-like. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATCCTTTCCTACAGATGCGGA 0.378 NaN Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 0 0 0 0.002299 0 22 69 MYH1 4619 broad.mit.edu 37 17 10399384 10399384 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:10399384C>T uc002gmo.2 - 35 5146 c.5052G>A c.(5050-5052)CTG>CTA p.L1684L uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1684 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CAGCCTGCAGCAGGTTGGCTC 0.592 NaN 0 0 0 0.004007 0 16 45 DNAH9 1770 broad.mit.edu 37 17 11656266 11656266 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:11656266G>A uc002gne.2 + 33 6795 c.6727G>A c.(6727-6729)GAT>AAT p.D2243N DNAH9_uc010coo.2_Missense_Mutation_p.D1537N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2243 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TACTGTCATGGATGATAACAA 0.453 NaN 0 0 0 0.006122 0 18 36 RICH2 9912 broad.mit.edu 37 17 12823090 12823090 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:12823090C>G uc002gnr.3 + 6 733 c.406C>G c.(406-408)CAA>GAA p.Q136E RICH2_uc010vvk.1_Missense_Mutation_p.Q136E|RICH2_uc010vvl.1_Missense_Mutation_p.Q136E|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.Q136E|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 136 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 CCCAAATATTCAAAAGCAGAG 0.353 NaN 0 0 0 0.001984 0 7 14 ZNF287 57336 broad.mit.edu 37 17 16466491 16466491 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:16466491C>G uc002gqi.2 - 5 1137 c.684G>C c.(682-684)GTG>GTC p.V228V NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 221 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) TTTCTTTTATCACCATCCATG 0.373 NaN 0 0 0 0.00245 0 11 51 NOS2 4843 broad.mit.edu 37 17 26101427 26101427 + Missense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:26101427C>A uc002gzu.2 - 12 1596 c.1332G>T c.(1330-1332)ATG>ATT p.M444I NOS2_uc010crh.1_Missense_Mutation_p.M444I|NOS2_uc010wab.1_Missense_Mutation_p.M444I NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 444 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) GCATGTACTTCATGAAGGATT 0.557 NaN 1 0 3.07112e-06 0.010729 3.20101e-06 10 62 KIAA0100 9703 broad.mit.edu 37 17 26945944 26945944 + Silent SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:26945944C>A uc002hbu.2 - 32 5787 c.5688G>T c.(5686-5688)CTG>CTT p.L1896L KIAA0100_uc002hbt.2_Silent_p.L225L NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1896 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GCTGCTTTCGCAGCTCCATCT 0.532 NaN 1 0 3.86212e-05 0.008291 3.98335e-05 10 36 PROCA1 147011 broad.mit.edu 37 17 27030605 27030605 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:27030605G>T uc002hcb.3 - 5 1191 c.988C>A c.(988-990)CCC>ACC p.P330T PROCA1_uc010crv.2_Missense_Mutation_p.P256T|PROCA1_uc002hca.1_Missense_Mutation_p.P328T NM_152465 NP_689678 Q8NCQ7 PRCA1_HUMAN protein interacting with cyclin A1 356 lipid catabolic process calcium ion binding|phospholipase A2 activity ovary(1) 1 Lung NSC(42;0.00431) GATCCTGGGGGAGATTTTCTC 0.547 NaN 1 0 1.55795e-14 0.012319 1.66406e-14 22 127 RAD51L3 5892 broad.mit.edu 37 17 33428002 33428002 + Missense_Mutation SNP C C G rs147669627 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:33428002C>G uc002hir.2 - 10 1213 c.957G>C c.(955-957)CAG>CAC p.Q319H RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_Missense_Mutation_p.E138Q|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q339H|RAD51L3_uc002his.2_Missense_Mutation_p.Q207H|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q200H|RAD51L3_uc010wce.1_Missense_Mutation_p.Q200H|RAD51L3_uc002hit.2_Missense_Mutation_p.Q200H|RAD51L3_uc002hiu.2_Missense_Mutation_p.Q142H NM_002878 NP_002869 O75771 RA51D_HUMAN RAD51-like 3 isoform 1 319 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ATGTGGCACTCTGCTCTGAGG 0.527 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.007291 0 27 46 GRB7 2886 broad.mit.edu 37 17 37901554 37901554 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:37901554C>G uc002hsr.2 + 10 1320 c.1070C>G c.(1069-1071)TCT>TGT p.S357C GRB7_uc002hss.2_Missense_Mutation_p.S357C|GRB7_uc010cwc.2_Missense_Mutation_p.S357C|GRB7_uc002hst.2_Missense_Mutation_p.S357C NM_005310 NP_005301 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 357 blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGCATCCATCTTGTTTGGGC 0.597 NaN 0 0 0 0.003163 0 13 34 PSMD3 5709 broad.mit.edu 37 17 38140722 38140722 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:38140722C>T uc002htn.1 + 2 560 c.396C>T c.(394-396)CTC>CTT p.L132L PSMD3_uc010wen.1_RNA|PSMD3_uc010weo.1_Silent_p.L33L NM_002809 NP_002800 O43242 PSMD3_HUMAN proteasome 26S non-ATPase subunit 3 132 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex enzyme regulator activity|protein binding ovary(1)|pancreas(1) 2 Colorectal(19;0.000442) ACTTTTTGCTCCCCTTCCTGG 0.517 NaN 0 0 0 0.008291 0 8 59 CDC6 990 broad.mit.edu 37 17 38447912 38447912 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:38447912G>C uc002huj.1 + 4 862 c.652G>C c.(652-654)GAC>CAC p.D218H NM_001254 NP_001245 Q99741 CDC6_HUMAN cell division cycle 6 protein 218 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity ovary(2)|breast(1) 3 GATTCTGCAAGACCTCAAGGT 0.348 NaN 0 0 0 0.010504 0 20 38 KAT2A 2648 broad.mit.edu 37 17 40265686 40265686 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:40265686C>G uc002hyx.2 - 18 2555 c.2495G>C c.(2494-2496)GGA>GCA p.G832A DHX58_uc002hyv.3_5'Flank|DHX58_uc002hyw.3_5'Flank|DHX58_uc010wgf.1_5'Flank NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 832 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 AATGAGGCCTCCCTCCTTGAG 0.607 NaN 0 0 0 0.006214 0 8 48 PTRF 284119 broad.mit.edu 37 17 40556890 40556890 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:40556890C>T uc002hzo.2 - 2 1147 c.988G>A c.(988-990)GAG>AAG p.E330K PTRF_uc010wgi.1_Missense_Mutation_p.E312K NM_012232 NP_036364 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 330 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding breast(1) 1 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) ACCTGGCCCTCGCGGATCTTC 0.687 NaN 0 0 0 0.003163 0 15 46 DHX8 1659 broad.mit.edu 37 17 41599484 41599484 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:41599484C>G uc002idu.1 + 22 3406 c.3333C>G c.(3331-3333)TTC>TTG p.F1111L DHX8_uc010wig.1_Missense_Mutation_p.F1111L NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 1111 catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GCAGTGGGTTCTTCCGTAATG 0.517 NaN 0 0 0 0.00361 0 82 52 FMNL1 752 broad.mit.edu 37 17 43323891 43323891 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:43323891C>T uc002iin.2 + 26 3431 c.3231C>T c.(3229-3231)TTC>TTT p.F1077F FMNL1_uc002iiq.2_Intron|FMNL1_uc010dag.2_Intron|LOC100133991_uc010dah.2_5'Flank NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 1077 DAD. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 CGGTGCCCTTCACGGCCCGCA 0.582 NaN OREG0024478 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 18 42 PNPO 55163 broad.mit.edu 37 17 46023710 46023710 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:46023710G>A uc002imo.2 + 6 721 c.568G>A c.(568-570)GAA>AAA p.E190K PNPO_uc010wkz.1_Missense_Mutation_p.E172K|PNPO_uc010wla.1_Missense_Mutation_p.E95K|PNPO_uc010wlb.1_Missense_Mutation_p.E147K NM_018129 NP_060599 Q9NVS9 PNPO_HUMAN pyridoxine 5'-phosphate oxidase 190 pyridoxine biosynthetic process cytosol FMN binding|pyridoxamine-phosphate oxidase activity 0 Pyridoxal Phosphate(DB00114) GAAAAATGAGGAACTGGAACA 0.493 NaN 0 0 0 0.009096 0 3 34 UBE2Z 65264 broad.mit.edu 37 17 47004453 47004453 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:47004453C>T uc002ioi.2 + 7 1121 c.1022C>T c.(1021-1023)TCA>TTA p.S341L NM_023079 NP_075567 Q9H832 UBE2Z_HUMAN ubiquitin-conjugating enzyme E2Z 341 apoptosis cytoplasm|nucleus ATP binding|ubiquitin-protein ligase activity 0 GATAGCAGTTCATCTGGGACA 0.537 NaN 0 0 0 0.000602 0 4 29 ABCC3 8714 broad.mit.edu 37 17 48745049 48745049 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:48745049C>G uc002isl.2 + 12 1646 c.1566C>G c.(1564-1566)CTC>CTG p.L522L ABCC3_uc002isk.3_Silent_p.L522L NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 522 ABC transmembrane type-1 1.|Cytoplasmic (By similarity). bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AGGGTGAGCTCCAGCTGCTGC 0.632 NaN 0 0 0 0.001168 0 5 46 MBTD1 54799 broad.mit.edu 37 17 49280217 49280217 + Missense_Mutation SNP C C T rs147550029 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:49280217C>T uc002itr.3 - 10 1252 c.908G>A c.(907-909)CGA>CAA p.R303Q MBTD1_uc002itp.3_Missense_Mutation_p.R139Q|MBTD1_uc002itq.3_Missense_Mutation_p.R303Q NM_017643 NP_060113 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 303 MBT 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CACTGCTACTCGTGTTCGACA 0.408 NaN 0 0 0 0.005524 0 37 185 TRIM37 4591 broad.mit.edu 37 17 57089713 57089713 + Nonsense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:57089713C>A uc002iwy.3 - 22 3115 c.2671G>T c.(2671-2673)GGA>TGA p.G891* TRIM37_uc002iwz.3_Nonsense_Mutation_p.G891*|TRIM37_uc002ixa.3_Nonsense_Mutation_p.G769*|TRIM37_uc010woc.1_Nonsense_Mutation_p.G857* NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 891 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GCTGAAGCTCCTTCAGGTAGT 0.368 NaN Mulibrey_Nanism 1 0 3.45872e-05 0.004007 3.57798e-05 13 75 KPNA2 3838 broad.mit.edu 37 17 66042657 66042657 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:66042657C>G uc002jgk.2 + 11 1667 c.1535C>G c.(1534-1536)TCT>TGT p.S512C KPNA2_uc002jgl.2_Missense_Mutation_p.S512C NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 512 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GAAACTACCTCTGAAGGCTAC 0.368 NaN 0 0 0 0.008291 0 9 71 KPNA2 3838 broad.mit.edu 37 17 66042674 66042674 + Missense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:66042674C>A uc002jgk.2 + 11 1684 c.1552C>A c.(1552-1554)CAA>AAA p.Q518K KPNA2_uc002jgl.2_Missense_Mutation_p.Q518K NM_002266 NP_002257 P52292 IMA2_HUMAN karyopherin alpha 2 518 DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination cytoplasm|nuclear pore|nucleoplasm histone deacetylase binding|nuclear localization sequence binding|protein transporter activity central_nervous_system(2) 2 all_cancers(12;1.18e-09) BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) CTACACTTTCCAAGTTCAGGA 0.338 NaN 1 0 7.03913e-09 0.001368 7.44938e-09 12 78 KCNJ16 3773 broad.mit.edu 37 17 68128891 68128891 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:68128891C>G uc002jin.2 + 5 1149 c.663C>G c.(661-663)CTC>CTG p.L221L KCNJ16_uc002jio.2_Silent_p.L221L|KCNJ16_uc002jip.2_Silent_p.L221L|KCNJ16_uc002jiq.2_Silent_p.L253L NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 221 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) CCCAACTTCTCCGCTATACAG 0.473 NaN 0 0 0 0.006214 0 9 51 KCNJ16 3773 broad.mit.edu 37 17 68129403 68129403 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:68129403C>T uc002jin.2 + 5 1661 c.1175C>T c.(1174-1176)TCC>TTC p.S392F KCNJ16_uc002jio.2_Missense_Mutation_p.S392F|KCNJ16_uc002jip.2_Missense_Mutation_p.S392F|KCNJ16_uc002jiq.2_Missense_Mutation_p.S424F NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 392 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) ACCACCACTTCCGCCACACAT 0.458 NaN 0 0 0 0.001168 0 5 55 NUP85 79902 broad.mit.edu 37 17 73205991 73205991 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:73205991C>T uc002jng.1 + 3 461 c.201C>T c.(199-201)ATC>ATT p.I67I NUP85_uc010dgd.1_Silent_p.I67I|NUP85_uc010wrv.1_Silent_p.I21I NM_024844 NP_079120 Q9BW27 NUP85_HUMAN nucleoporin 85 67 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding ovary(1) 1 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) ACTCTCAAATCTTGAGAAAAC 0.368 NaN 0 0 0 0.008291 0 9 69 LLGL2 3993 broad.mit.edu 37 17 73554290 73554290 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:73554290G>A uc002joh.2 + 4 382 c.228G>A c.(226-228)GTG>GTA p.V76V LLGL2_uc002jog.1_Silent_p.V76V|LLGL2_uc010dgf.1_Silent_p.V76V|LLGL2_uc002joi.2_Silent_p.V76V|LLGL2_uc010dgg.1_Silent_p.V76V|LLGL2_uc002joj.2_Silent_p.V65V NM_001031803 NP_001026973 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 isoform c 76 WD 2. cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding ovary(2) 2 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) ACAACGCTGTGACGCAGATCC 0.632 NaN 0 0 0 0.008871 0 18 123 RECQL5 9400 broad.mit.edu 37 17 73623508 73623508 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:73623508C>G uc010dgl.2 - 20 3126 c.2970G>C c.(2968-2970)CAG>CAC p.Q990H RECQL5_uc010dgk.2_Missense_Mutation_p.Q963H|RECQL5_uc002jot.3_Missense_Mutation_p.Q186H NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 990 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TTGGTCATCTCTGGGGGCCAC 0.622 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.007413 0 18 118 RECQL5 9400 broad.mit.edu 37 17 73623520 73623520 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:73623520C>T uc010dgl.2 - 20 3114 c.2958G>A c.(2956-2958)CTG>CTA p.L986L RECQL5_uc010dgk.2_Silent_p.L959L|RECQL5_uc002jot.3_Silent_p.L182L NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 986 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GGGGGCCACACAGGCCATGCC 0.632 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.012319 0 21 126 RECQL5 9400 broad.mit.edu 37 17 73624402 73624402 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:73624402C>G uc010dgl.2 - 18 2857 c.2701G>C c.(2701-2703)GAC>CAC p.D901H RECQL5_uc010dgk.2_Missense_Mutation_p.D874H|RECQL5_uc002jot.3_Missense_Mutation_p.D97H NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 901 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TGGAAGGGGTCTTGAGCCGTG 0.602 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.00499 0 16 103 RECQL5 9400 broad.mit.edu 37 17 73624837 73624837 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:73624837C>T uc010dgl.2 - 17 2651 c.2495G>A c.(2494-2496)TGC>TAC p.C832Y RECQL5_uc010dgk.2_Missense_Mutation_p.C805Y|RECQL5_uc002jot.3_Missense_Mutation_p.C28Y NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 832 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TCTGGGCGGGCAGGTGCTGGT 0.652 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.00308 0 7 42 RECQL5 9400 broad.mit.edu 37 17 73625129 73625129 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:73625129C>T uc010dgl.2 - 16 2530 c.2374G>A c.(2374-2376)GAG>AAG p.E792K RECQL5_uc010dgk.2_Missense_Mutation_p.E765K|RECQL5_uc002jot.3_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 792 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) TGAACCCCCTCACAGGAGGGG 0.642 NaN Other_identified_genes_with_known_or_suspected_DNA_repair_function 0 0 0 0.001168 0 6 53 GALR2 8811 broad.mit.edu 37 17 74071212 74071212 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:74071212C>T uc002jqm.1 + 1 329 c.248C>T c.(247-249)GCC>GTC p.A83V SRP68_uc010wsu.1_5'Flank|SRP68_uc002jqk.1_5'Flank|SRP68_uc002jql.1_5'Flank NM_003857 NP_003848 O43603 GALR2_HUMAN galanin receptor 2 83 Extracellular (Potential). digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity 0 CCCTTCCAGGCCACCATCTAC 0.632 NaN 0 0 0 0.010729 0 11 77 MGAT5B 146664 broad.mit.edu 37 17 74901357 74901357 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:74901357C>T uc002jti.2 + 6 933 c.830C>T c.(829-831)GCG>GTG p.A277V MGAT5B_uc002jth.2_Missense_Mutation_p.A266V NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 266 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 GCCCAGTGGGCGCTGGCTGCC 0.642 NaN 0 0 0 0.010729 0 9 37 AZI1 22994 broad.mit.edu 37 17 79165000 79165000 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:79165000C>T uc002jzp.1 - 22 2967 c.2767G>A c.(2767-2769)GAG>AAG p.E923K AZI1_uc002jzm.1_Missense_Mutation_p.E355K|AZI1_uc002jzn.1_Missense_Mutation_p.E920K|AZI1_uc002jzo.1_Missense_Mutation_p.E884K|AZI1_uc010wum.1_Missense_Mutation_p.E887K|AZI1_uc002jzq.2_Missense_Mutation_p.E71K NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN 5-azacytidine induced 1 isoform a 923 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle central_nervous_system(2)|large_intestine(1)|ovary(1) 4 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) TACCGGCTCTCGGCAGCCTTC 0.652 NaN 0 0 0 0.010504 0 20 66 C17orf62 79415 broad.mit.edu 37 17 80401915 80401915 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:80401915C>T uc002kez.2 - 6 577 c.529G>A c.(529-531)GAC>AAC p.D177N C17orf62_uc002kex.2_Silent_p.A28A|C17orf62_uc002key.2_Silent_p.A28A|C17orf62_uc002kfa.2_Missense_Mutation_p.D177N|C17orf62_uc010dir.2_Missense_Mutation_p.D177N|C17orf62_uc002kfb.3_Missense_Mutation_p.D177N|C17orf62_uc002kfc.3_Missense_Mutation_p.D163N|C17orf62_uc002kfd.3_Silent_p.A28A|C17orf62_uc002kfe.3_Silent_p.A28A NM_001100407 NP_001093877 Q9BQA9 CQ062_HUMAN hypothetical protein LOC79415 isoform a 177 integral to membrane protein binding 0 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GCCTCACTGTCGCTGCTCTGA 0.652 NaN 0 0 0 0.008871 0 19 135 FN3K 64122 broad.mit.edu 37 17 80708353 80708353 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr17:80708353C>G uc010wvs.1 + 6 713 c.652C>G c.(652-654)CTC>GTC p.L218V TBCD_uc002kfx.1_5'Flank|TBCD_uc002kfy.1_5'Flank|TBCD_uc002kfz.2_5'Flank NM_022158 NP_071441 Q9H479 FN3K_HUMAN fructosamine 3 kinase 218 fructoselysine metabolic process fructosamine-3-kinase activity 0 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) CCACGGGGATCTCTGGTCGGG 0.567 NaN 0 0 0 0.003163 0 16 118 EMILIN2 84034 broad.mit.edu 37 18 2892402 2892402 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr18:2892402G>C uc002kln.2 + 4 2436 c.2277G>C c.(2275-2277)AAG>AAC p.K759N NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 759 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CTGGCCTGAAGAATTCAGTCC 0.468 NaN 0 0 0 0.001855 0 14 48 LAMA1 284217 broad.mit.edu 37 18 7024444 7024444 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr18:7024444G>C uc002knm.2 - 18 2518 c.2424C>G c.(2422-2424)CTC>CTG p.L808L LAMA1_uc010wzj.1_Silent_p.L284L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 808 Laminin EGF-like 7. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTCCATCATTGAGGTGGCAGG 0.438 NaN 0 0 0 0.009096 0 3 17 MOCOS 55034 broad.mit.edu 37 18 33780103 33780103 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr18:33780103C>T uc002kzq.3 + 4 780 c.757C>T c.(757-759)CAC>TAC p.H253Y NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 253 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) CCTGTCAGCTCACCAGGCCGA 0.587 NaN 0 0 0 0.004007 0 14 37 C18orf22 79863 broad.mit.edu 37 18 77794586 77794586 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr18:77794586G>A uc002lns.2 + 1 229 c.91G>A c.(91-93)GAG>AAG p.E31K TXNL4A_uc010drg.2_5'Flank|C18orf22_uc010drh.2_Missense_Mutation_p.E31K|C18orf22_uc010dri.1_RNA NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 31 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) TCCAGGCTGCGAGCGGGGACT 0.682 NaN 0 0 0 0.010729 0 11 17 RPS15 6209 broad.mit.edu 37 19 1440120 1440120 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:1440120G>A uc002lsp.1 + 3 254 c.192G>A c.(190-192)AAG>AAA p.K64K RPS15_uc002lsq.1_Silent_p.K71K NM_001018 NP_001009 P62841 RS15_HUMAN ribosomal protein S15 64 endocrine pancreas development|ribosomal small subunit export from nucleus|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm DNA binding|protein binding|RNA binding 0 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) GCAAGGCCAAGAAGGAGGCGC 0.662 NaN 0 0 0 0.004672 0 3 12 DOT1L 84444 broad.mit.edu 37 19 2210632 2210632 + Nonsense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 G T G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:2210632G>T uc002lvb.3 + 14 1165 c.1129G>T c.(1129-1131)GAG>TAG p.E377* DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 377 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) CTCTGGTGCTGAGGAAGAGAA 0.632 NaN 1 0 8.34094e-07 0.008871 8.7333e-07 19 148 DOT1L 84444 broad.mit.edu 37 19 2210638 2210638 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:2210638G>A uc002lvb.3 + 14 1171 c.1135G>A c.(1135-1137)GAG>AAG p.E379K DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 379 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) TGCTGAGGAAGAGAAGGCGGG 0.642 NaN 0 0 0 0.010504 0 20 151 DOT1L 84444 broad.mit.edu 37 19 2210754 2210754 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:2210754G>A uc002lvb.3 + 14 1287 c.1251G>A c.(1249-1251)ATG>ATA p.M417I DOT1L_uc002lvc.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 417 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) CCAAGAAGATGAACACTGCGA 0.617 NaN 0 0 0 0.006214 0 10 66 DOT1L 84444 broad.mit.edu 37 19 2213597 2213597 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:2213597G>A uc002lvb.3 + 17 1653 c.1617G>A c.(1615-1617)CAG>CAA p.Q539Q DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 539 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) GCCAGGCCCAGAAGGAGGAGA 0.632 NaN 0 0 0 0.001984 0 6 51 DOT1L 84444 broad.mit.edu 37 19 2213856 2213856 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:2213856G>A uc002lvb.3 + 18 1704 c.1668G>A c.(1666-1668)GTG>GTA p.V556V DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 556 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) AGCTGGGTGTGAAGGCGCTGA 0.642 NaN 0 0 0 0.00308 0 8 66 DOT1L 84444 broad.mit.edu 37 19 2216484 2216484 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:2216484G>A uc002lvb.3 + 20 2164 c.2128G>A c.(2128-2130)GAG>AAG p.E710K DOT1L_uc002lvc.1_Missense_Mutation_p.E4K|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Missense_Mutation_p.E4K NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 710 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) CATGAGCCCGGAGCTCTCCAT 0.672 NaN 0 0 0 0.001368 0 12 47 DOT1L 84444 broad.mit.edu 37 19 2216699 2216699 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:2216699G>A uc002lvb.3 + 20 2379 c.2343G>A c.(2341-2343)CTG>CTA p.L781L DOT1L_uc002lvc.1_Silent_p.L75L|uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.L75L NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 781 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 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) AGATTGTGCTGAGGCGGCACC 0.692 NaN 0 0 0 0.00308 0 7 61 ZBTB7A 51341 broad.mit.edu 37 19 4048050 4048050 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:4048050G>A uc002lzh.2 - 3 1530 c.1455C>T c.(1453-1455)CTC>CTT p.L485L ZBTB7A_uc002lzi.2_Silent_p.L485L NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 485 C2H2-type 4; atypical. cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) CGTCTTTCTTGAGGTGTCTGT 0.408 NaN 0 0 0 0.001984 0 6 23 KIAA1543 57662 broad.mit.edu 37 19 7676406 7676406 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:7676406C>T uc002mgv.3 + 10 1228 c.1127C>T c.(1126-1128)TCC>TTC p.S376F KIAA1543_uc002mgu.3_Missense_Mutation_p.S403F NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 376 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 CCCCCAGGCTCCCTGAAGTCT 0.632 NaN 0 0 0 0.004672 0 3 5 KIAA1543 57662 broad.mit.edu 37 19 7676584 7676584 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:7676584C>G uc002mgv.3 + 11 1306 c.1205C>G c.(1204-1206)TCC>TGC p.S402C KIAA1543_uc002mgu.3_Missense_Mutation_p.S429C|KIAA1543_uc002mgw.2_5'Flank NM_020902 NP_065953 Q9P1Y5 CAMP3_HUMAN NEZHA isoform 2 402 epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding pancreas(1) 1 CGTCCCCTCTCCCAGGCTGTG 0.692 NaN 0 0 0 0.004672 0 3 10 MUC16 94025 broad.mit.edu 37 19 9075858 9075858 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:9075858C>G uc002mkp.2 - 3 11792 c.11588G>C c.(11587-11589)AGA>ACA p.R3863T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 3864 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGATGTAGCTCTTGCCTCTGT 0.453 NaN 0 0 0 0.006214 0 10 33 TYK2 7297 broad.mit.edu 37 19 10478793 10478793 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:10478793C>G uc002moc.3 - 5 781 c.403G>C c.(403-405)GAT>CAT p.D135H TYK2_uc010dxe.2_Intron|TYK2_uc002mod.2_Missense_Mutation_p.D135H NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 135 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) GCTGTCTGATCTGAGGATGCC 0.567 NaN 0 0 0 0.006214 0 9 27 DOCK6 57572 broad.mit.edu 37 19 11343960 11343960 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:11343960C>G uc002mqs.3 - 22 2678 c.2637G>C c.(2635-2637)AAG>AAC p.K879N DOCK6_uc010xlq.1_Missense_Mutation_p.K183N NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 879 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 TGCTGATGCTCTTGGAACGCG 0.657 NaN 0 0 0 0.003163 0 12 23 CCDC130 81576 broad.mit.edu 37 19 13873412 13873412 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:13873412G>A uc002mxb.1 + 11 1224 c.721G>A c.(721-723)GAC>AAC p.D241N CCDC130_uc002mxc.1_Missense_Mutation_p.D241N|CCDC130_uc002mxd.1_Missense_Mutation_p.D96N|CCDC130_uc010dzf.1_Missense_Mutation_p.D135N|MRI1_uc002mxe.2_5'Flank|MRI1_uc002mxf.2_5'Flank NM_030818 NP_110445 P13994 CC130_HUMAN coiled-coil domain containing 130 241 response to virus protein binding 0 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) AGCCTACGAGGACAAGCAGAA 0.622 NaN 0 0 0 0.004672 0 3 25 AKAP8L 26993 broad.mit.edu 37 19 15510131 15510131 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:15510131C>T uc002naw.1 - 9 1238 c.1139G>A c.(1138-1140)CGA>CAA p.R380Q AKAP8L_uc002nax.1_RNA|AKAP8L_uc010xoh.1_Missense_Mutation_p.R319Q NM_014371 NP_055186 Q9ULX6 AKP8L_HUMAN A kinase (PRKA) anchor protein 8-like 380 cytoplasm|nuclear matrix DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding ovary(1) 1 CATGCGGTCTCGCTGCCGCTT 0.617 NaN 0 0 0 0.001368 0 9 42 OR10H1 26539 broad.mit.edu 37 19 15918161 15918161 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:15918161G>C uc002nbq.2 - 1 776 c.687C>G c.(685-687)ATC>ATG p.I229M NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAGCAGAAGGGATCTTCAAGA 0.567 NaN 0 0 0 0.006214 0 9 51 NWD1 284434 broad.mit.edu 37 19 16860125 16860125 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:16860125C>T uc002neu.3 + 6 1094 c.672C>T c.(670-672)CTC>CTT p.L224L NWD1_uc002net.3_Silent_p.L89L|NWD1_uc002nev.3_Silent_p.L18L Q149M9 NWD1_HUMAN RecName: Full=NACHT and WD repeat domain-containing protein 1; 224 ATP binding skin(3)|ovary(2)|pancreas(2) 7 AGAACCTTCTCAGCAGCCTCA 0.587 NaN 0 0 0 0.008871 0 21 57 MYO9B 4650 broad.mit.edu 37 19 17311468 17311468 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:17311468C>T uc010eak.2 + 26 4545 c.4393C>T c.(4393-4395)CGC>TGC p.R1465C MYO9B_uc002nfi.2_Missense_Mutation_p.R1465C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1465C|MYO9B_uc002nfl.1_Missense_Mutation_p.R14C NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1465 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 ACAGCAGCATCGCCACGCTGC 0.602 NaN 0 0 0 0.001168 0 6 15 COMP 1311 broad.mit.edu 37 19 18896563 18896563 + Missense_Mutation SNP C C T rs145034923 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:18896563C>T uc002nke.2 - 14 1624 c.1588G>A c.(1588-1590)GAC>AAC p.D530N COMP_uc002nkd.2_Missense_Mutation_p.D497N|COMP_uc010xqj.1_Missense_Mutation_p.D477N NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 530 Mediates cell survival and induction of the IAP family of survival proteins. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 GCCCTGAAGTCGGTGAGCGTG 0.627 NaN 0 0 0 0.006122 0 16 29 ZNF681 148213 broad.mit.edu 37 19 23926476 23926476 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:23926476C>T uc002nrk.3 - 4 2018 c.1876G>A c.(1876-1878)GAT>AAT p.D626N ZNF681_uc002nrl.3_Missense_Mutation_p.D557N|ZNF681_uc002nrj.3_Missense_Mutation_p.D557N NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TTTTCAAAATCACTGTTACAT 0.308 NaN 0 0 0 0.00308 0 7 8 ZNF681 148213 broad.mit.edu 37 19 23926861 23926861 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:23926861C>G uc002nrk.3 - 4 1633 c.1491G>C c.(1489-1491)AAG>AAC p.K497N ZNF681_uc002nrl.3_Missense_Mutation_p.K428N|ZNF681_uc002nrj.3_Missense_Mutation_p.K428N NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 497 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) TATGAATTCTCTTATGTGTAG 0.358 NaN 0 0 0 0.008871 0 20 55 ZNF681 148213 broad.mit.edu 37 19 23927978 23927978 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:23927978C>G uc002nrk.3 - 4 516 c.374G>C c.(373-375)GGA>GCA p.G125A ZNF681_uc002nrl.3_Missense_Mutation_p.G56A|ZNF681_uc002nrj.3_Missense_Mutation_p.G56A NM_138286 NP_612143 Q96N22 ZN681_HUMAN zinc finger protein 681 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) ATTATAACCTCCTTTTTGCAC 0.294 NaN 0 0 0 0.001984 0 7 24 ZNF536 9745 broad.mit.edu 37 19 31039228 31039228 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:31039228G>A uc002nsu.1 + 4 2840 c.2702G>A c.(2701-2703)GGA>GAA p.G901E ZNF536_uc010edd.1_Missense_Mutation_p.G901E NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 901 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TCTGAGATCGGAAGAGCTTAT 0.512 NaN 0 0 0 0.012213 0 33 202 ANKRD27 84079 broad.mit.edu 37 19 33089074 33089074 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:33089074C>G uc002ntn.1 - 29 3286 c.3130G>C c.(3130-3132)GAG>CAG p.E1044Q NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 1044 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) GCACTAACCTCTTGGGGAGTG 0.587 NaN 0 0 0 0.00361 0 42 58 MLL4 9757 broad.mit.edu 37 19 36218436 36218436 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:36218436G>C uc010eei.2 + 17 4215 c.4215G>C c.(4213-4215)CTG>CTC p.L1405L NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1405 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGAGGCCCTGAGCGGGGCCC 0.687 NaN 0 0 0 0.004007 0 16 118 NPHS1 4868 broad.mit.edu 37 19 36322010 36322010 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:36322010C>T uc002oby.2 - 27 3426 c.3426G>A c.(3424-3426)CTG>CTA p.L1142L NPHS1_uc010eem.1_RNA NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 1142 Cytoplasmic (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TGAAGTCCCTCAGGGAGCGGT 0.587 NaN 0 0 0 0.003163 0 15 145 ZNF567 163081 broad.mit.edu 37 19 37211048 37211048 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:37211048G>A uc010xtl.1 + 6 1644 c.1422G>A c.(1420-1422)GAG>GAA p.E474E ZNF567_uc002oeo.1_Silent_p.E474E|ZNF567_uc010xtk.1_Silent_p.E474E|ZNF567_uc002oep.3_Silent_p.E443E|ZNF567_uc002oeq.1_Silent_p.E443E NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATACAGGGGAGAAATCTTATG 0.418 NaN 0 0 0 0.004878 0 36 51 RYR1 6261 broad.mit.edu 37 19 38976369 38976369 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:38976369C>G uc002oit.2 + 34 5204 c.5074C>G c.(5074-5076)CAG>GAG p.Q1692E RYR1_uc002oiu.2_Missense_Mutation_p.Q1692E NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1692 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGACCAAGCTCAGCTGCTGCA 0.667 NaN 0 0 0 0.00874 0 39 81 ACTN4 81 broad.mit.edu 37 19 39219769 39219769 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:39219769C>T uc002oja.1 + 20 2611 c.2552C>T c.(2551-2553)TCC>TTC p.S851F ACTN4_uc002ojb.1_Missense_Mutation_p.S173F NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 851 platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GTCATCGCTTCCTTCAAGGTC 0.637 NaN 0 0 0 0.010729 0 10 89 RINL 126432 broad.mit.edu 37 19 39361468 39361468 + Nonsense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:39361468C>A uc002ojq.2 - 8 812 c.424G>T c.(424-426)GAG>TAG p.E142* RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Nonsense_Mutation_p.E256* NM_198445 NP_940847 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 142 GTPase activator activity pancreas(1) 1 AGCACGTCCTCAGGGCCTTCC 0.622 NaN 1 0 1.17673e-23 0.00361 1.26078e-23 53 61 RINL 126432 broad.mit.edu 37 19 39361736 39361736 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:39361736C>T uc002ojq.2 - 7 629 c.241G>A c.(241-243)GCT>ACT p.A81T RINL_uc002ojr.1_5'Flank|RINL_uc010xuo.1_Missense_Mutation_p.A195T NM_198445 NP_940847 Q6ZS11 RINL_HUMAN Ras and Rab interactor-like 81 GTPase activator activity pancreas(1) 1 TGTCTCTGAGCAGCCTCTGGC 0.622 NaN 0 0 0 0.00361 0 62 94 FBXO27 126433 broad.mit.edu 37 19 39521863 39521863 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:39521863G>A uc002okh.2 - 3 544 c.462C>T c.(460-462)TTC>TTT p.F154F NM_178820 NP_849142 Q8NI29 FBX27_HUMAN F-box protein 27 154 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding ovary(1) 1 all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) ATGAAGTCACGAAGCACGTCT 0.582 NaN 0 0 0 0.010504 0 19 140 PRX 57716 broad.mit.edu 37 19 40902869 40902869 + Nonsense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:40902869G>A uc002onr.2 - 7 1659 c.1390C>T c.(1390-1392)CGA>TGA p.R464* PRX_uc002onq.2_Nonsense_Mutation_p.R325*|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 464 5.|55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER]. axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TCTGGGAGTCGAACCTCTGGA 0.612 NaN 0 0 0 0.00361 0 70 145 ADCK4 79934 broad.mit.edu 37 19 41209631 41209631 + Missense_Mutation SNP C C T rs146225943 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:41209631C>T uc002oor.2 - 8 1008 c.706G>A c.(706-708)GTG>ATG p.V236M ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.1_Missense_Mutation_p.V195M NM_024876 NP_079152 Q96D53 ADCK4_HUMAN aarF domain containing kinase 4 isoform a 236 Protein kinase. integral to membrane protein serine/threonine kinase activity 0 Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219) TGGATCTTCACGGCCACCTCC 0.522 NaN 0 0 0 0.001168 0 6 70 TMEM145 284339 broad.mit.edu 37 19 42819374 42819374 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:42819374C>G uc002otk.1 + 7 592 c.540C>G c.(538-540)ATC>ATG p.I180M NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 180 Helical; (Potential). integral to membrane 0 Prostate(69;0.00682) tcctcctcatcttcatcctca 0.463 NaN 0 0 0 0.00245 0 15 75 C19orf61 56006 broad.mit.edu 37 19 44235749 44235749 + Nonstop_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:44235749C>G uc002oxj.2 - 14 1905 c.1562G>C c.(1561-1563)TGA>TCA p.*521S NM_019108 NP_061981 Q9H0W8 SMG9_HUMAN SMG9 protein 521 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay intracellular protein binding 0 Prostate(69;0.0352) TCCTTGGCCTCAGGCCAGCAG 0.637 NaN 0 0 0 0.001368 0 12 70 SYMPK 8189 broad.mit.edu 37 19 46330779 46330779 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:46330779C>T uc002pdn.2 - 16 2415 c.2170G>A c.(2170-2172)GAG>AAG p.E724K SYMPK_uc002pdo.1_Missense_Mutation_p.E724K|SYMPK_uc002pdp.1_Missense_Mutation_p.E724K NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 724 cell adhesion|mRNA processing cytoplasm|cytoskeleton|nucleoplasm|tight junction protein binding ovary(1) 1 all_neural(266;0.0299)|Ovarian(192;0.0308) OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593) TTGTCCTTCTCATGGGAGCTG 0.597 NaN 0 0 0 0.001855 0 13 32 PRKD2 25865 broad.mit.edu 37 19 47207801 47207801 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:47207801G>A uc002pfh.2 - 5 959 c.617C>T c.(616-618)TCG>TTG p.S206L PRKD2_uc002pfg.2_Missense_Mutation_p.S49L|PRKD2_uc002pfi.2_Missense_Mutation_p.S206L|PRKD2_uc002pfj.2_Missense_Mutation_p.S206L|PRKD2_uc010xye.1_Missense_Mutation_p.S206L|PRKD2_uc002pfk.2_Missense_Mutation_p.S49L NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 206 cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GAGGCGCACCGAGTGGCCACT 0.657 NaN OREG0025578 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003954 0 24 55 GRLF1 2909 broad.mit.edu 37 19 47425167 47425167 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:47425167C>T uc010ekv.2 + 1 3235 c.3235C>T c.(3235-3237)CAG>TAG p.Q1079* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1079 axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) CTGGCTGCCTCAGGATGGGTT 0.478 NaN 0 0 0 0.00632 0 28 24 DHX34 9704 broad.mit.edu 37 19 47856690 47856690 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:47856690C>G uc010xyn.1 + 2 744 c.403C>G c.(403-405)CGA>GGA p.R135G DHX34_uc010elc.1_Missense_Mutation_p.R135G NM_014681 NP_055496 Q14147 DHX34_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 34 135 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding ovary(4)|upper_aerodigestive_tract(1) 5 all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132) TGAGTTCCGCCGAGCCCTGTT 0.652 NaN 0 0 0 0.010729 0 10 119 KDELR1 10945 broad.mit.edu 37 19 48892915 48892915 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:48892915G>A uc002pjb.1 - 3 441 c.246C>T c.(244-246)TTC>TTT p.F82F KDELR1_uc002pja.1_Silent_p.F20F NM_006801 NP_006792 P24390 ERD21_HUMAN KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum 82 Cytoplasmic (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction KDEL sequence binding|protein binding|receptor activity 0 all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203) all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145) AAGTAGCTTTGAACTTGCTAT 0.532 NaN 0 0 0 0.010729 0 12 74 FAM83E 54854 broad.mit.edu 37 19 49113235 49113235 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:49113235C>T uc002pjn.2 - 3 721 c.656G>A c.(655-657)CGG>CAG p.R219Q NM_017708 NP_060178 Q2M2I3 FA83E_HUMAN hypothetical protein LOC54854 219 ovary(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GCTGCAGCCCCGCACGACACG 0.627 NaN 0 0 0 0.003954 0 24 15 BAX 581 broad.mit.edu 37 19 49458852 49458852 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:49458852C>T uc002plk.2 + 2 151 c.82C>T c.(82-84)CAG>TAG p.Q28* BAX_uc002plf.1_Nonsense_Mutation_p.Q28*|BAX_uc002plg.1_Intron|BAX_uc002plh.1_Intron|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Nonsense_Mutation_p.Q28*|BAX_uc002pll.2_Nonsense_Mutation_p.Q28*|BAX_uc002plm.2_Intron NM_138761 NP_620116 Q07812 BAX_HUMAN BCL2-associated X protein isoform alpha 28 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity lung(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) CCTTTTGCTTCAGGGGTGAGT 0.527 NaN 0 0 0 0.00361 0 52 59 BAX 581 broad.mit.edu 37 19 49464129 49464129 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:49464129C>T uc002plk.2 + 5 501 c.432C>T c.(430-432)CTC>CTT p.L144L BAX_uc002plf.1_Silent_p.L144L|BAX_uc002plg.1_Silent_p.L107L|BAX_uc002plh.1_Silent_p.L66L|BAX_uc010xzx.1_RNA|BAX_uc002plj.2_Silent_p.L144L|BAX_uc002pll.2_Silent_p.L95L|BAX_uc002plm.2_Silent_p.L66L NM_138761 NP_620116 Q07812 BAX_HUMAN BCL2-associated X protein isoform alpha 144 activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity lung(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279) TGGACTTCCTCCGGGAGCGGC 0.483 NaN 0 0 0 0.013114 0 45 46 RUVBL2 10856 broad.mit.edu 37 19 49510338 49510338 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:49510338C>T uc002plr.1 + 5 342 c.329C>T c.(328-330)TCC>TTC p.S110F RUVBL2_uc002plq.1_Missense_Mutation_p.S65F|RUVBL2_uc010yab.1_Missense_Mutation_p.S110F|RUVBL2_uc002pls.1_RNA|RUVBL2_uc010emn.1_Missense_Mutation_p.S65F|RUVBL2_uc010yac.1_Missense_Mutation_p.S65F NM_006666 NP_006657 Q9Y230 RUVB2_HUMAN RuvB-like 2 110 cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047) GAAATCTTCTCCCTGGAGATG 0.657 NaN 0 0 0 0.007413 0 15 71 MED25 81857 broad.mit.edu 37 19 50334032 50334032 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:50334032C>G uc002ppw.1 + 9 1042 c.989C>G c.(988-990)CCA>CGA p.P330R MED25_uc010ybe.1_Missense_Mutation_p.P117R|MED25_uc002ppx.1_Missense_Mutation_p.P111R NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 330 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CAACTACCCCCAGGACCCCCT 0.706 NaN 0 0 0 0.00623 0 40 38 PPP2R1A 5518 broad.mit.edu 37 19 52724377 52724377 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:52724377C>T uc002pyp.2 + 12 1668 c.1509C>T c.(1507-1509)TTC>TTT p.F503F PPP2R1A_uc010ydk.1_Silent_p.F448F|PPP2R1A_uc002pyq.2_Silent_p.F324F NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 503 PP2A subunit C binding.|HEAT 13. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) CTACGCTCTTCTGCATCAATG 0.592 NaN Mis clear cell ovarian carcinoma 0 0 0 0.00361 0 57 64 ZNF808 388558 broad.mit.edu 37 19 53057257 53057257 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:53057257G>C uc010epq.1 + 5 1265 c.1088G>C c.(1087-1089)AGA>ACA p.R363T ZNF808_uc002pzq.2_RNA|ZNF808_uc010epr.1_5'Flank NM_001039886 NP_001034975 Q8N4W9 ZN808_HUMAN zinc finger protein 808 363 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CGCCATCAAAGACTTCATACT 0.383 NaN 0 0 0 0.001984 0 7 121 BIRC8 112401 broad.mit.edu 37 19 53793212 53793212 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:53793212G>C uc002qbk.2 - 1 1664 c.416C>G c.(415-417)TCT>TGT p.S139C NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 139 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) GTTGCTCCCAGATGTTTGAAT 0.383 NaN 0 0 0 0.00278 0 23 210 KIR2DL3 3804 broad.mit.edu 37 19 55263168 55263168 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:55263168C>G uc002qgv.2 + 6 801 c.783C>G c.(781-783)CTC>CTG p.L261L KIR2DL3_uc002qgx.2_Silent_p.L261L|KIR2DL3_uc002qgy.2_Silent_p.L163L|KIR2DL3_uc010erw.1_Silent_p.L261L|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 261 Helical; (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) tcctcctcctcttctttctcc 0.423 NaN 0 0 0 0.010504 0 21 133 NLRP7 199713 broad.mit.edu 37 19 55441934 55441934 + Missense_Mutation SNP T T A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:55441934T>A uc002qih.3 - 9 2819 c.2743A>T c.(2743-2745)ATA>TTA p.I915L NLRP7_uc002qig.3_Missense_Mutation_p.I887L|NLRP7_uc002qii.3_Missense_Mutation_p.I915L|NLRP7_uc010esk.2_Missense_Mutation_p.I915L|NLRP7_uc010esl.2_Missense_Mutation_p.I943L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 915 LRR 8. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CCACGAGCTATCTGGTTGATA 0.418 NaN 0 0 0 0.001855 0 14 154 PPP1R12C 54776 broad.mit.edu 37 19 55624149 55624149 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:55624149C>T uc002qix.2 - 2 352 c.336G>A c.(334-336)GAG>GAA p.E112E PPP1R12C_uc010yfs.1_Silent_p.E38E|PPP1R12C_uc002qiy.2_Silent_p.E112E NM_017607 NP_060077 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 112 ANK 1. cytoplasm ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CCTCCAGGTTCTCATCAATGC 0.647 NaN 0 0 0 0.004482 0 8 90 U2AF2 11338 broad.mit.edu 37 19 56180822 56180822 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:56180822C>G uc002qlu.2 + 11 2112 c.1057C>G c.(1057-1059)CAG>GAG p.Q353E U2AF2_uc002qlt.2_Missense_Mutation_p.Q349E NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 353 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) CACCATCAATCAGACGCCTGT 0.662 NaN 0 0 0 0.007413 0 19 23 ZNF671 79891 broad.mit.edu 37 19 58232514 58232514 + Missense_Mutation SNP C C G rs144079819 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:58232514C>G uc002qpz.3 - 4 1039 c.940G>C c.(940-942)GAG>CAG p.E314Q ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E237Q|ZNF671_uc010yhf.1_Missense_Mutation_p.E216Q NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 314 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCGTTACACTCATAAGGCCTT 0.493 NaN 0 0 0 0.001368 0 12 126 ZNF671 79891 broad.mit.edu 37 19 58233027 58233027 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:58233027C>G uc002qpz.3 - 4 526 c.427G>C c.(427-429)GAG>CAG p.E143Q ZNF776_uc002qpx.2_Intron|ZNF671_uc010eug.2_Missense_Mutation_p.E66Q|ZNF671_uc010yhf.1_Missense_Mutation_p.E45Q NM_024833 NP_079109 Q8TAW3 ZN671_HUMAN zinc finger protein 671 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) ATGCTCTGCTCAGAAGATACC 0.468 NaN 0 0 0 0.001368 0 11 92 ZNF544 27300 broad.mit.edu 37 19 58772988 58772988 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:58772988C>T uc010euo.2 + 7 1490 c.1016C>T c.(1015-1017)TCA>TTA p.S339L ZNF544_uc010yhw.1_RNA|ZNF544_uc010yhx.1_Missense_Mutation_p.S311L|ZNF544_uc010yhy.1_Missense_Mutation_p.S311L|ZNF544_uc002qrt.3_Missense_Mutation_p.S197L|ZNF544_uc002qru.3_Missense_Mutation_p.S197L|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) CCCATGGCCTCATCTTTTTCT 0.473 NaN 0 0 0 0.002299 0 22 62 TRIM28 10155 broad.mit.edu 37 19 59060782 59060782 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr19:59060782G>A uc002qtg.1 + 13 2036 c.1747G>A c.(1747-1749)GAG>AAG p.E583K TRIM28_uc010eut.1_Missense_Mutation_p.E501K|TRIM28_uc002qth.1_Missense_Mutation_p.E198K NM_005762 NP_005753 Q13263 TIF1B_HUMAN tripartite motif-containing 28 protein 583 epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GGCTCTTGCGGAGGGTCCTGG 0.652 NaN 0 0 0 0.003954 0 25 159 GRHL1 29841 broad.mit.edu 37 2 10126392 10126392 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:10126392C>T uc002raa.2 + 9 1422 c.1251C>T c.(1249-1251)ATC>ATT p.I417I GRHL1_uc002rab.2_RNA|GRHL1_uc002rad.2_Silent_p.I228I|GRHL1_uc010yjb.1_Silent_p.I266I NM_198182 NP_937825 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 417 cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding pancreas(1)|skin(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) ACTGCCAGATCAAGGTCTTCT 0.468 NaN 0 0 0 0.010771 0 41 219 ROCK2 9475 broad.mit.edu 37 2 11427791 11427791 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:11427791G>C uc002rbd.1 - 2 662 c.213C>G c.(211-213)TTC>TTG p.F71L NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 71 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) ATCTATTTAAGAAATTATCTA 0.264 NaN 0 0 0 0.004672 0 3 13 ATAD2B 54454 broad.mit.edu 37 2 24011422 24011422 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:24011422G>C uc002rek.3 - 20 3030 c.2736C>G c.(2734-2736)CTC>CTG p.L912L ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rei.3_Silent_p.L157L|ATAD2B_uc002rej.3_Silent_p.L80L NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 912 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGCCTGATTGAGAATCAATT 0.358 NaN 0 0 0 0.009096 0 4 44 CAPN13 92291 broad.mit.edu 37 2 30976031 30976031 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:30976031G>A uc002rnn.2 - 10 1151 c.975C>T c.(973-975)ATC>ATT p.I325I CAPN13_uc002rnp.1_Silent_p.I325I NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 325 Calpain catalytic. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) TAAACATGGCGATGAATTTCT 0.438 NaN 0 0 0 0.000602 0 5 113 LTBP1 4052 broad.mit.edu 37 2 33412110 33412110 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:33412110C>T uc002ros.2 + 6 1389 c.1389C>T c.(1387-1389)ACC>ACT p.T463T LTBP1_uc002rot.2_Silent_p.T137T|LTBP1_uc002rou.2_Silent_p.T137T|LTBP1_uc002rov.2_Silent_p.T137T|LTBP1_uc010ymz.1_Silent_p.T137T|LTBP1_uc010yna.1_Silent_p.T137T NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 463 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CAACACATACCTTGCCTCTGA 0.517 NaN 0 0 0 0.003163 0 13 31 VIT 5212 broad.mit.edu 37 2 37000939 37000939 + Missense_Mutation SNP T T C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:37000939T>C uc002rpl.2 + 8 906 c.685T>C c.(685-687)TGG>CGG p.W229R VIT_uc010ynf.1_Missense_Mutation_p.W158R|VIT_uc002rpm.2_Missense_Mutation_p.W222R|VIT_uc010ezv.2_Missense_Mutation_p.W222R|VIT_uc010ezw.2_Missense_Mutation_p.W222R NM_053276 NP_444506 Q6UXI7 VITRN_HUMAN vitrin 229 proteinaceous extracellular matrix ovary(1)|pancreas(1) 2 all_hematologic(82;0.248) TACAGATCTCTGGTCCACTGC 0.328 NaN 0 0 0 0.00308 0 8 7 HEATR5B 54497 broad.mit.edu 37 2 37283642 37283642 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:37283642G>C uc002rpp.1 - 16 2436 c.2340C>G c.(2338-2340)GTC>GTG p.V780V NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 780 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) AAGCATCAATGACTGAGACTC 0.433 NaN 0 0 0 0.00333 0 23 83 HEATR5B 54497 broad.mit.edu 37 2 37284473 37284473 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:37284473G>A uc002rpp.1 - 15 2306 c.2210C>T c.(2209-2211)TCA>TTA p.S737L NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 737 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) GTCTTCAATTGATTTATGATC 0.358 NaN 0 0 0 0.000602 0 4 36 SOS1 6654 broad.mit.edu 37 2 39234309 39234309 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:39234309C>T uc002rrk.3 - 16 2577 c.2536G>A c.(2536-2538)GAA>AAA p.E846K SOS1_uc002rrj.3_Missense_Mutation_p.E460K NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 846 Ras-GEF. E -> K (in NS4). apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) ACTCTTTCTTCTAAATTTTCA 0.308 NaN Noonan_syndrome 0 0 0 0.010818 0 30 76 HAAO 23498 broad.mit.edu 37 2 42996988 42996988 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:42996988G>C uc002rst.3 - 7 570 c.495C>G c.(493-495)CTC>CTG p.L165L NM_012205 NP_036337 P46952 3HAO_HUMAN 3-hydroxyanthranilate 3,4-dioxygenase 165 Linker (By similarity). neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process cytosol|soluble fraction 3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding ovary(1) 1 GTGGCTCCTTGAGCAGCTGGT 0.637 NaN 0 0 0 0.00499 0 16 75 MSH2 4436 broad.mit.edu 37 2 47693913 47693913 + Missense_Mutation SNP G G A rs63750675 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:47693913G>A uc002rvy.1 + 10 1695 c.1627G>A c.(1627-1629)GAT>AAT p.D543N MSH2_uc010yoh.1_Missense_Mutation_p.D477N|MSH2_uc002rvz.2_Missense_Mutation_p.D543N|MSH2_uc010fbg.2_Missense_Mutation_p.D353N|MSH2_uc010fbh.1_RNA|MSH2_uc010fbi.1_Intron NM_000251 NP_000242 P43246 MSH2_HUMAN mutS homolog 2 543 B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes MutSalpha complex|MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding p.?(2) large_intestine(33)|haematopoietic_and_lymphoid_tissue(6)|endometrium(4)|ovary(3)|cervix(2)|central_nervous_system(2)|stomach(1)|small_intestine(1)|breast(1)|skin(1)|prostate(1) 55 all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) TAGTACTGTAGATATCCAGAA 0.323 NaN D|Mis|N|F|S colorectal|endometrial|ovarian colorectal|endometrial|ovarian MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 0 0 0 0.002299 0 20 72 FOXN2 3344 broad.mit.edu 37 2 48573510 48573510 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:48573510G>C uc002rwh.1 + 3 472 c.157G>C c.(157-159)GAT>CAT p.D53H NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 53 embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036) TGAGTCAGCAGATGATGAACT 0.448 NaN 0 0 0 0.001855 0 11 62 ERLEC1 27248 broad.mit.edu 37 2 54035547 54035547 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:54035547G>A uc002rxl.2 + 9 1271 c.991G>A c.(991-993)GAT>AAT p.D331N ASB3_uc002rxi.3_Intron|ERLEC1_uc002rxm.2_Missense_Mutation_p.D331N|ERLEC1_uc002rxn.2_Intron NM_015701 NP_056516 Q96DZ1 ERLEC_HUMAN erlectin isoform 1 331 D -> G (in Ref. 3; BAA91974). ER-associated protein catabolic process endoplasmic reticulum lumen glycoprotein binding|protein binding ovary(2) 2 CAAATTGACAGATGACCAACT 0.398 NaN 0 0 0 0.00245 0 14 57 FBXO48 554251 broad.mit.edu 37 2 68691345 68691345 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:68691345C>G uc002seo.2 - 4 872 c.464G>C c.(463-465)AGA>ACA p.R155T NM_001024680 NP_001019851 Q5FWF7 FBX48_HUMAN F-box protein 48 155 0 TTCCCCTTATCTTTCCAGTTC 0.358 NaN 0 0 0 0.006999 0 37 185 EXOC6B 23233 broad.mit.edu 37 2 72968519 72968519 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:72968519C>T uc010fep.2 - 2 331 c.193G>A c.(193-195)GAG>AAG p.E65K EXOC6B_uc002sij.2_Missense_Mutation_p.E65K NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 65 Potential. protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 CACATTTTCTCAATTTCTCGG 0.408 NaN 0 0 0 0.003163 0 12 114 EIF2AK3 9451 broad.mit.edu 37 2 88874949 88874949 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:88874949G>A uc002stc.3 - 13 2254 c.2052C>T c.(2050-2052)CTC>CTT p.L684L NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 684 Cytoplasmic (Potential).|Protein kinase. activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 TAGGAGAGCTGAGTGGCCAGT 0.408 NaN 0 0 0 0.001168 0 6 54 KIAA1310 55683 broad.mit.edu 37 2 97276603 97276603 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:97276603G>C uc002swn.3 - 11 1325 c.1179C>G c.(1177-1179)CTC>CTG p.L393L KIAA1310_uc002swh.3_Silent_p.L281L|KIAA1310_uc002swi.3_Silent_p.L294L|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Silent_p.L306L|KIAA1310_uc010fhz.2_Silent_p.L187L|KIAA1310_uc002swl.3_Silent_p.L294L|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Silent_p.L187L|KIAA1310_uc002swp.1_Silent_p.L294L|KIAA1310_uc002swq.1_Silent_p.L165L|KIAA1310_uc010fhy.1_Silent_p.L294L NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 393 0 TCATATCCAAGAGGGGATCAT 0.458 NaN 0 0 0 0.008871 0 19 92 CNNM3 26505 broad.mit.edu 37 2 97483169 97483169 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:97483169C>G uc002swy.2 + 1 1179 c.1155C>G c.(1153-1155)TTC>TTG p.F385L CNNM3_uc002swz.2_Missense_Mutation_p.F385L NM_017623 NP_060093 Q8NE01 CNNM3_HUMAN cyclin M3 isoform 1 385 ion transport integral to membrane|plasma membrane protein binding ovary(1) 1 TCACTCGTTTCTACAACCATC 0.592 NaN 0 0 0 0.008291 0 11 71 AFF3 3899 broad.mit.edu 37 2 100199373 100199373 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:100199373C>T uc002tag.2 - 16 2916 c.2680G>A c.(2680-2682)GAG>AAG p.E894K AFF3_uc002taf.2_Missense_Mutation_p.E919K|AFF3_uc010fiq.1_Missense_Mutation_p.E894K|AFF3_uc010yvr.1_Missense_Mutation_p.E1047K|AFF3_uc002tah.1_Missense_Mutation_p.E919K NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 894 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 GTTAAGTCCTCGCTGGTGTAT 0.463 NaN 0 0 0 0.003163 0 13 52 MERTK 10461 broad.mit.edu 37 2 112740456 112740456 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:112740456G>A uc002thk.1 + 8 1304 c.1182G>A c.(1180-1182)CTG>CTA p.L394L MERTK_uc002thl.1_Silent_p.L218L NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 394 Fibronectin type-III 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 CTGTGTTTCTGAATGAATCTA 0.448 NaN 0 0 0 0.004289 0 36 123 MERTK 10461 broad.mit.edu 37 2 112740460 112740460 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:112740460G>A uc002thk.1 + 8 1308 c.1186G>A c.(1186-1188)GAA>AAA p.E396K MERTK_uc002thl.1_Missense_Mutation_p.E220K NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 396 Fibronectin type-III 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 GTTTCTGAATGAATCTAGTGA 0.453 NaN 0 0 0 0.003271 0 34 116 MERTK 10461 broad.mit.edu 37 2 112740501 112740501 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:112740501G>A uc002thk.1 + 8 1349 c.1227G>A c.(1225-1227)CCG>CCA p.P409P MERTK_uc002thl.1_Silent_p.P233P NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 409 Fibronectin type-III 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 TGAAGCCTCCGACTAAGCAGC 0.463 NaN 0 0 0 0.00632 0 20 84 MERTK 10461 broad.mit.edu 37 2 112740537 112740537 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:112740537G>C uc002thk.1 + 8 1385 c.1263G>C c.(1261-1263)CGG>CGC p.R421R MERTK_uc002thl.1_Silent_p.R245R NM_006343 NP_006334 Q12866 MERTK_HUMAN MER receptor tyrosine kinase precursor 421 Fibronectin type-III 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|upper_aerodigestive_tract(1)|stomach(1)|kidney(1) 9 TGGGCTACCGGATATCCCACG 0.453 NaN 0 0 0 0.00333 0 13 68 IWS1 55677 broad.mit.edu 37 2 128260414 128260414 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:128260414C>T uc002ton.2 - 5 1747 c.1444G>A c.(1444-1446)GAT>AAT p.D482N IWS1_uc010yzl.1_RNA|uc002too.1_5'Flank NM_017969 NP_060439 Q96ST2 IWS1_HUMAN IWS1 homolog 482 Glu-rich. transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) TCCTCTTCATCACCAGATTCT 0.308 NaN 0 0 0 0.00245 0 13 36 UGGT1 56886 broad.mit.edu 37 2 128918082 128918082 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:128918082G>A uc002tps.2 + 24 2789 c.2611G>A c.(2611-2613)GAT>AAT p.D871N UGGT1_uc010fme.1_Missense_Mutation_p.D746N|UGGT1_uc002tpr.2_Missense_Mutation_p.D847N NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 871 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 TTCCAAAATGGATTTCATTTT 0.403 NaN 0 0 0 0.001984 0 5 40 RAB6C 84084 broad.mit.edu 37 2 130738132 130738132 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:130738132G>A uc002tpx.1 + 1 898 c.444G>A c.(442-444)CTG>CTA p.L148L uc002tpw.1_5'Flank NM_032144 NP_115520 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 148 protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 Colorectal(110;0.1) CCAAAGGGCTGAATGTTACGT 0.463 NaN 0 0 0 0.004878 0 35 158 NCKAP5 344148 broad.mit.edu 37 2 133543084 133543084 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:133543084C>T uc002ttp.2 - 14 1674 c.1300G>A c.(1300-1302)GAA>AAA p.E434K NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 434 protein binding 0 TATATTCCTTCATTCGAGTTC 0.458 NaN 0 0 0 0.001855 0 12 55 ZEB2 9839 broad.mit.edu 37 2 145161507 145161507 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:145161507C>T uc002tvu.2 - 6 1263 c.783G>A c.(781-783)GTG>GTA p.V261V ZEB2_uc002tvv.2_Silent_p.V255V|ZEB2_uc010zbm.1_Silent_p.V232V|ZEB2_uc010fnp.2_Silent_p.V169V|ZEB2_uc010fnq.1_Silent_p.V290V NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 261 C2H2-type 2. 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) GCTTGTGTGTCACCATATGCC 0.418 NaN 0 0 0 0.010729 0 10 97 NEB 4703 broad.mit.edu 37 2 152496556 152496556 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:152496556G>C uc010fnx.2 - 62 8895 c.8704C>G c.(8704-8706)CTC>GTC p.L2902V NEB_uc002txu.2_Missense_Mutation_p.L6V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2902 Nebulin 78. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ATCCACTGGAGATCAGACTTG 0.378 NaN 0 0 0 0.007291 0 25 89 SCN3A 6328 broad.mit.edu 37 2 165947272 165947272 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:165947272C>T uc002ucx.2 - 28 5883 c.5391G>A c.(5389-5391)TGG>TGA p.W1797* SCN3A_uc010zcy.1_Nonsense_Mutation_p.W280*|SCN3A_uc002ucy.2_Nonsense_Mutation_p.W1748*|SCN3A_uc002ucz.2_Nonsense_Mutation_p.W1748* NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 1797 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) CAAACTTTTCCCAAACCTCAT 0.463 NaN 0 0 0 0.00308 0 8 72 TTC21B 79809 broad.mit.edu 37 2 166747011 166747011 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:166747011C>G uc002udk.2 - 24 3374 c.3241G>C c.(3241-3243)GAA>CAA p.E1081Q TTC21B_uc002udj.1_RNA NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1081 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TCCAGGTTTTCAAATACTTCA 0.358 NaN 0 0 0 0.004007 0 16 23 KBTBD10 10324 broad.mit.edu 37 2 170359659 170359659 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:170359659G>C uc010zdh.1 + 10 929 c.871G>C c.(871-873)GAC>CAC p.D291H BBS5_uc002uet.2_Missense_Mutation_p.D291H|BBS5_uc010fpw.2_Missense_Mutation_p.D270H NM_152384 NP_689597 O60662 KBTBA_HUMAN Bardet-Biedl syndrome 5 356 Kelch 1. striated muscle contraction centrosome|nucleolus|plasma membrane|pseudopodium|ruffle 0 TGTAGAAATAGACTCTGATGG 0.373 NaN 0 0 0 0.004482 0 9 17 C2orf77 129881 broad.mit.edu 37 2 170506887 170506887 + Silent SNP T T C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:170506887T>C uc002ufe.2 - 7 1198 c.1104A>G c.(1102-1104)GAA>GAG p.E368E NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 368 Potential. 0 CTTTGTTTTTTTCATCTTTTT 0.308 NaN 0 0 0 0.004672 0 2 16 TTN 7273 broad.mit.edu 37 2 179402447 179402447 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:179402447C>T uc010zfg.1 - 304 92007 c.91783G>A c.(91783-91785)GAG>AAG p.E30595K uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E24290K|TTN_uc010zfi.1_Missense_Mutation_p.E24223K|TTN_uc010zfj.1_Missense_Mutation_p.E24098K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31522 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCCTGTTCCTCTGTCATTACT 0.428 NaN 0 0 0 0.006214 0 9 31 TTN 7273 broad.mit.edu 37 2 179481355 179481355 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:179481355G>A uc010zfg.1 - 206 40683 c.40459C>T c.(40459-40461)CGC>TGC p.R13487C TTN_uc010zfh.1_Missense_Mutation_p.R7182C|TTN_uc010zfi.1_Missense_Mutation_p.R7115C|TTN_uc010zfj.1_Missense_Mutation_p.R6990C NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14414 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACTTGGGCGAGCTGAAAAA 0.383 NaN 0 0 0 0.006214 0 10 32 TTN 7273 broad.mit.edu 37 2 179528787 179528787 + Missense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:179528787C>A uc010zfk.1 - 14 1305 c.757G>T c.(757-759)GTG>TTG p.V253L TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; 11465 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACCACCGACACTTTCTTTTCA 0.383 NaN 1 0 1.08611e-07 0.010729 1.1424e-07 9 48 PDE1A 5136 broad.mit.edu 37 2 183094834 183094834 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:183094834C>T uc002uos.2 - 7 706 c.622G>A c.(622-624)GAA>AAA p.E208K PDE1A_uc010zfp.1_Missense_Mutation_p.E104K|PDE1A_uc002uoq.1_Missense_Mutation_p.E208K|PDE1A_uc010zfq.1_Missense_Mutation_p.E208K|PDE1A_uc002uor.2_Missense_Mutation_p.E192K|PDE1A_uc002uou.2_Missense_Mutation_p.E174K NM_001003683 NP_001003683 P54750 PDE1A_HUMAN phosphodiesterase 1A isoform 2 208 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.061) TAACCAACTTCTAAAGCTTCT 0.333 NaN 0 0 0 0.001168 0 6 35 ITGAV 3685 broad.mit.edu 37 2 187455093 187455093 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:187455093C>T uc002upq.2 + 1 304 c.28C>T c.(28-30)CGC>TGC p.R10C ITGAV_uc010frs.2_Missense_Mutation_p.R10C NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 10 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GCGACGGCTGCGCCTCGGTCC 0.706 NaN 0 0 0 0.000602 0 5 21 ITGAV 3685 broad.mit.edu 37 2 187516805 187516805 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:187516805C>G uc002upq.2 + 15 1770 c.1494C>G c.(1492-1494)CTC>CTG p.L498L ITGAV_uc010frs.2_Silent_p.L462L|ITGAV_uc010zfv.1_Silent_p.L452L NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 498 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GAACAGCTCTCAAAGTTTCCT 0.378 NaN 0 0 0 0.004482 0 8 16 RFTN2 130132 broad.mit.edu 37 2 198498569 198498569 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:198498569C>T uc002uuo.3 - 4 993 c.591G>A c.(589-591)TGG>TGA p.W197* NM_144629 NP_653230 Q52LD8 RFTN2_HUMAN raftlin family member 2 197 plasma membrane 0 TCCCTTCATTCCAACTTCTAC 0.408 NaN 0 0 0 0.00499 0 16 139 AOX1 316 broad.mit.edu 37 2 201468754 201468754 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:201468754C>T uc002uvx.2 + 8 704 c.603C>T c.(601-603)CTC>CTT p.L201L NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 201 inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity ovary(4)|pancreas(1)|skin(1) 6 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GTCCAAAACTCTTCGCAGAAG 0.303 NaN 0 0 0 0.000602 0 4 50 CLK1 1195 broad.mit.edu 37 2 201721702 201721702 + Missense_Mutation SNP T T A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:201721702T>A uc002uwe.2 - 8 1020 c.839A>T c.(838-840)CAC>CTC p.H280L CLK1_uc002uwd.2_Missense_Mutation_p.H103L|CLK1_uc010zhi.1_Missense_Mutation_p.H322L|CLK1_uc002uwf.2_Missense_Mutation_p.H54L|CLK1_uc002uwg.2_Missense_Mutation_p.H129L|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 280 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 CTTATTACTGTGCAAAACTGA 0.328 NaN 0 0 0 0.004672 0 3 40 BMPR2 659 broad.mit.edu 37 2 203420557 203420557 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:203420557C>T uc002uzf.3 + 12 3317 c.2169C>T c.(2167-2169)TTC>TTT p.F723F BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 723 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 AGCAGGACTTCACACAGACTG 0.473 NaN 0 0 0 0.004482 0 9 68 PIKFYVE 200576 broad.mit.edu 37 2 209218754 209218754 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:209218754C>T uc002vcz.2 + 40 6135 c.5977C>T c.(5977-5979)CAT>TAT p.H1993Y NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 1993 Catalytic.|PIPK. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 TATTCGTTCTCATTCCAAAGC 0.418 NaN 0 0 0 0.005443 0 24 107 ANKZF1 55139 broad.mit.edu 37 2 220094995 220094995 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:220094995G>A uc002vkg.2 + 2 190 c.16G>A c.(16-18)GAT>AAT p.D6N ATG9A_uc002vke.1_5'Flank|ATG9A_uc002vkf.1_5'Flank|ANKZF1_uc010zkv.1_Missense_Mutation_p.D6N|ANKZF1_uc010zkw.1_Intron|ANKZF1_uc002vkh.2_Intron|ANKZF1_uc002vki.2_Missense_Mutation_p.D6N|ANKZF1_uc002vkj.1_5'Flank NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN ankyrin repeat and zinc finger domain containing 6 intracellular zinc ion binding ovary(2) 2 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCGGCTCCAGATGCAGCCCC 0.602 NaN 0 0 0 0.000602 0 5 24 COL4A4 1286 broad.mit.edu 37 2 227924258 227924258 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:227924258G>A uc010zlt.1 - 28 2900 c.2246C>T c.(2245-2247)TCA>TTA p.S749L NM_000092 NP_000083 P53420 CO4A4_HUMAN alpha 4 type IV collagen precursor 749 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding ovary(5)|central_nervous_system(3)|pancreas(1)|breast(1)|skin(1) 11 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CACTCCTGGTGAGCCGGGAGG 0.552 NaN 0 0 0 0.001368 0 13 61 SP100 6672 broad.mit.edu 37 2 231407626 231407626 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:231407626C>G uc002vqu.1 + 29 2764 c.2623C>G c.(2623-2625)CAG>GAG p.Q875E SP100_uc010fxp.1_Missense_Mutation_p.Q193E NM_001080391 NP_001073860 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 1 Error:Variant_position_missing_in_P23497_after_alignment DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TTTTGCAATTCAGGAAACAAG 0.373 NaN 0 0 0 0.00308 0 8 56 UGT1A5 54579 broad.mit.edu 37 2 234622344 234622344 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:234622344C>G uc002vuw.2 + 1 707 c.707C>G c.(706-708)TCT>TGT p.S236C UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Missense_Mutation_p.S236C NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 236 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) AGCCTTGCCTCTGAGCTTTTT 0.527 NaN 0 0 0 0.006999 0 39 161 HJURP 55355 broad.mit.edu 37 2 234749538 234749538 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:234749538C>T uc002vvg.2 - 8 1954 c.1888G>A c.(1888-1890)GAC>AAC p.D630N HJURP_uc010znd.1_Missense_Mutation_p.D569N|HJURP_uc010zne.1_Missense_Mutation_p.D538N NM_018410 NP_060880 Q8NCD3 HJURP_HUMAN Holliday junction recognition protein 630 cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm DNA binding|histone binding ovary(1) 1 Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128) Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829) AAGTGAGGGTCTGGATTTAAT 0.448 NaN 0 0 0 0.004007 0 16 61 PER2 8864 broad.mit.edu 37 2 239184478 239184478 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:239184478C>T uc002vyc.2 - 4 591 c.354G>A c.(352-354)CTG>CTA p.L118L PER2_uc010znv.1_Silent_p.L118L|PER2_uc010znw.1_Silent_p.L118L|PER2_uc010fyx.1_Silent_p.L118L NM_022817 NP_073728 O15055 PER2_HUMAN period 2 118 circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding|signal transducer activity upper_aerodigestive_tract(1)|breast(1) 2 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244) Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161) GGTGGACCTTCAGCTCCTTTA 0.517 NaN 0 0 0 0.001368 0 12 65 ANKMY1 51281 broad.mit.edu 37 2 241468765 241468765 + Silent SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:241468765G>T uc002vyz.1 - 4 604 c.375C>A c.(373-375)ATC>ATA p.I125I ANKMY1_uc002vza.1_Intron|ANKMY1_uc010fzd.1_Silent_p.I214I|ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.1_Intron|ANKMY1_uc002vze.2_Intron NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 125 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGCTGTGGGTGATGAAGCTGG 0.562 NaN 1 0 5.9392e-07 0.001168 6.23752e-07 4 28 MTERFD2 130916 broad.mit.edu 37 2 242035439 242035439 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr2:242035439C>T uc002wan.1 - 3 1700 c.1207G>A c.(1207-1209)GAT>AAT p.D403N MTERFD2_uc010zoj.1_Missense_Mutation_p.D186N NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN MTERF domain containing 2 374 ovary(1) 1 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) tcgtcctcatcctcatcattg 0.189 NaN 0 0 0 0.003163 0 16 68 CSNK2A1 1457 broad.mit.edu 37 20 469330 469330 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:469330G>C uc002wdw.1 - 11 1209 c.816C>G c.(814-816)ATC>ATG p.I272M CSNK2A1_uc002wdx.1_Missense_Mutation_p.I272M|CSNK2A1_uc002wdy.1_Missense_Mutation_p.I136M NM_177559 NP_808227 P68400 CSK21_HUMAN casein kinase II alpha 1 subunit isoform a 272 Protein kinase. axon guidance|Wnt receptor signaling pathway cytosol|NuRD complex|plasma membrane|Sin3 complex ATP binding|protein N-terminus binding|protein serine/threonine kinase activity ovary(1) 1 Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.0969) ACCTGCCCAAGATATCATTGA 0.358 NaN 0 0 0 0.010729 0 12 51 SLC4A11 83959 broad.mit.edu 37 20 3210005 3210005 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:3210005G>T uc002wig.2 - 14 1932 c.1884C>A c.(1882-1884)TTC>TTA p.F628L SLC4A11_uc010zqe.1_Missense_Mutation_p.F655L|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.F612L NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 628 Membrane (bicarbonate transporter).|Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 CGATTTCCCGGAAGCCATGGG 0.667 NaN 1 0 2.0095e-06 0.001984 2.10084e-06 6 49 SLC23A2 9962 broad.mit.edu 37 20 4848512 4848512 + Silent SNP G G A rs72552221 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:4848512G>A uc002wlg.1 - 13 1635 c.1260C>T c.(1258-1260)TTC>TTT p.F420F SLC23A2_uc010zqr.1_Silent_p.F305F|SLC23A2_uc002wlh.1_Silent_p.F420F NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 420 GIFVEGL -> YVPEKTS (in Ref. 10). L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 GGCCTTCCACGAAAATTCCCC 0.403 NaN 0 0 0 0.00308 0 7 21 LRRN4 164312 broad.mit.edu 37 20 6022478 6022478 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:6022478G>C uc002wmo.2 - 5 1637 c.1413C>G c.(1411-1413)ATC>ATG p.I471M NM_152611 NP_689824 Q8WUT4 LRRN4_HUMAN leucine rich repeat neuronal 4 precursor 471 Extracellular (Potential). integral to membrane skin(3) 3 AGGCAGCTGAGATATCAGGCT 0.647 NaN 0 0 0 0.007413 0 17 74 CRNKL1 51340 broad.mit.edu 37 20 20031155 20031155 + Missense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:20031155C>A uc002wrs.2 - 3 678 c.646G>T c.(646-648)GAT>TAT p.D216Y C20orf26_uc010gcw.1_5'Flank|C20orf26_uc010zse.1_5'Flank|C20orf26_uc002wru.2_5'Flank|CRNKL1_uc002wrt.1_Missense_Mutation_p.D204Y NM_016652 NP_057736 Q9BZJ0 CRNL1_HUMAN crooked neck-like 1 protein 216 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding ovary(2)|large_intestine(1) 3 TCTTCTTCATCTGTGATCTTC 0.408 NaN 1 0 2.23348e-06 0.004007 2.33147e-06 17 42 GZF1 64412 broad.mit.edu 37 20 23350821 23350821 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:23350821G>A uc010gdb.2 + 7 2053 c.1879G>A c.(1879-1881)GAA>AAA p.E627K GZF1_uc002wsy.2_Missense_Mutation_p.E627K|GZF1_uc010zsq.1_Missense_Mutation_p.E151K|GZF1_uc010zsr.1_Missense_Mutation_p.E136K|GZF1_uc002wsz.2_Missense_Mutation_p.E627K NM_022482 NP_071927 Q9H116 GZF1_HUMAN GDNF-inducible zinc finger protein 1 627 transcription, DNA-dependent nucleolus|nucleoplasm sequence-specific DNA binding|zinc ion binding kidney(1) 1 Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135) ACAGCCTGACGAAGAGTATGT 0.448 NaN 0 0 0 0.006214 0 9 29 HM13 81502 broad.mit.edu 37 20 30137129 30137129 + Silent SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:30137129C>A uc002wwe.2 + 6 774 c.660C>A c.(658-660)GTC>GTA p.V220V HM13_uc002wwc.2_Silent_p.V220V|HM13_uc002wwd.2_Silent_p.V220V|HM13_uc002wwf.2_Silent_p.V96V|HM13_uc010gdu.2_Silent_p.V96V NM_030789 NP_110416 Q8TCT9 HM13_HUMAN minor histocompatibility antigen 13 isoform 1 220 Helical; (Potential). membrane protein proteolysis cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane aspartic-type endopeptidase activity|protein binding breast(1) 1 all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264) TCTACGATGTCTTCTGGGTGA 0.562 NaN 1 0 1.66031e-10 0.003954 1.76248e-10 23 167 ZNF341 84905 broad.mit.edu 37 20 32379155 32379155 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:32379155G>A uc002wzy.2 + 15 2417 c.2397G>A c.(2395-2397)GCG>GCA p.A799A ZNF341_uc002wzx.2_Silent_p.A792A|ZNF341_uc010geq.2_Silent_p.A709A|ZNF341_uc010ger.2_RNA|ZNF341_uc002wzz.2_Silent_p.A226A NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN zinc finger protein 341 799 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 AGCCGGACGCGGTGCTGTCCA 0.701 NaN 0 0 0 0.004482 0 6 54 TP53INP2 58476 broad.mit.edu 37 20 33296631 33296631 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:33296631G>C uc002xau.1 + 3 423 c.88G>C c.(88-90)GAT>CAT p.D30H NM_021202 NP_067025 Q8IXH6 T53I2_HUMAN tumor protein p53 inducible nuclear protein 2 30 nucleus 0 GTCGGAGGAGGATGAAGTGGA 0.652 NaN 0 0 0 0.009096 0 4 37 TRPC4AP 26133 broad.mit.edu 37 20 33632447 33632447 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:33632447G>A uc002xbk.2 - 7 760 c.726C>T c.(724-726)CTC>CTT p.L242L TRPC4AP_uc002xbl.2_Silent_p.L242L|TRPC4AP_uc010zur.1_Silent_p.L203L|TRPC4AP_uc002xbm.1_Silent_p.L242L NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 242 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGAAATTAGCGAGCTGCTGCT 0.438 NaN 0 0 0 0.003954 0 25 129 PHF20 51230 broad.mit.edu 37 20 34435272 34435272 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:34435272G>A uc002xek.1 + 4 367 c.256G>A c.(256-258)GAA>AAA p.E86K PHF20_uc002xei.1_Missense_Mutation_p.E86K|PHF20_uc010gfo.1_Missense_Mutation_p.E86K|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 86 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) TGTTTTTTAGGAATTTCAAAT 0.373 NaN 0 0 0 0.010504 0 18 41 EPB41L1 2036 broad.mit.edu 37 20 34797578 34797578 + Missense_Mutation SNP A A G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:34797578A>G uc002xfb.2 + 15 2008 c.1837A>G c.(1837-1839)ACG>GCG p.T613A EPB41L1_uc002xeu.2_Missense_Mutation_p.T539A|EPB41L1_uc010zvo.1_Missense_Mutation_p.T613A|EPB41L1_uc002xev.2_Missense_Mutation_p.T613A|EPB41L1_uc002xew.2_Missense_Mutation_p.T504A|EPB41L1_uc002xex.2_Intron|EPB41L1_uc002xey.2_Intron|EPB41L1_uc002xez.2_Missense_Mutation_p.T539A|EPB41L1_uc010gfq.2_Missense_Mutation_p.T712A NM_012156 NP_036288 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 613 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity ovary(2)|pancreas(1) 3 Breast(12;0.0239) GGTCAGCTCTACGTCTAGCCT 0.607 NaN 0 0 0 0.010504 0 20 24 LBP 3929 broad.mit.edu 37 20 36982714 36982714 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:36982714C>G uc002xic.1 + 4 434 c.399C>G c.(397-399)GTC>GTG p.V133V NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 133 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) ATGTCAGTGTCAAGGGCATCA 0.557 NaN 0 0 0 0.003163 0 15 121 SLC32A1 140679 broad.mit.edu 37 20 37357141 37357141 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:37357141C>G uc002xjc.2 + 2 1700 c.1437C>G c.(1435-1437)CGC>CGG p.R479R NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 479 Helical; (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TTCACCTGCGCCTGCTCTGGC 0.642 NaN 0 0 0 0.009096 0 4 52 L3MBTL 26013 broad.mit.edu 37 20 42164893 42164893 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:42164893C>T uc010zwh.1 + 18 2062 c.2016C>T c.(2014-2016)CTC>CTT p.L672L L3MBTL_uc002xkl.2_Silent_p.L604L|L3MBTL_uc002xkm.2_Silent_p.L604L|L3MBTL_uc010ggl.2_Silent_p.L609L|L3MBTL_uc002xkn.1_Silent_p.L363L|L3MBTL_uc002xko.2_Silent_p.L256L NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 604 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) AGAAGAACCTCTCAGGCTTCT 0.642 NaN 0 0 0 0.009096 0 4 15 HNF4A 3172 broad.mit.edu 37 20 43043252 43043252 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:43043252G>A uc002xma.2 + 5 687 c.598G>A c.(598-600)GAG>AAG p.E200K HNF4A_uc002xlt.2_Missense_Mutation_p.E178K|HNF4A_uc002xlu.2_Missense_Mutation_p.E178K|HNF4A_uc002xlv.2_Missense_Mutation_p.E178K|HNF4A_uc002xly.2_Missense_Mutation_p.E200K|HNF4A_uc002xlz.2_Missense_Mutation_p.E200K|HNF4A_uc010ggq.2_Missense_Mutation_p.E193K NM_000457 NP_000448 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4 alpha isoform b 200 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGTTCTCGTTGAGTGGGCCAA 0.622 NaN 0 0 0 0.004482 0 8 23 SULF2 55959 broad.mit.edu 37 20 46307544 46307544 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:46307544G>A uc002xto.2 - 8 1399 c.1069C>T c.(1069-1071)CCC>TCC p.P357S SULF2_uc002xtr.2_Missense_Mutation_p.P357S|SULF2_uc002xtq.2_Missense_Mutation_p.P357S NM_018837 NP_061325 Q8IWU5 SULF2_HUMAN sulfatase 2 isoform a precursor 357 bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 ACGATGTGGGGATTCCTGGGG 0.617 NaN 0 0 0 0.003163 0 12 96 ZNF831 128611 broad.mit.edu 37 20 57769685 57769685 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:57769685C>T uc002yan.2 + 1 3611 c.3611C>T c.(3610-3612)TCT>TTT p.S1204F NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1204 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) AAGGCGGCATCTGTGTACTTG 0.622 NaN 0 0 0 0.001368 0 13 39 CDH26 60437 broad.mit.edu 37 20 58558027 58558027 + Missense_Mutation SNP C C G rs149485584 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr20:58558027C>G uc002ybe.2 + 5 743 c.443C>G c.(442-444)TCC>TGC p.S148C CDH26_uc010zzy.1_RNA NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 148 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) GTGGATACATCCTTGATTTTC 0.403 NaN 0 0 0 0.00632 0 27 156 USP25 29761 broad.mit.edu 37 21 17236685 17236685 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:17236685C>G uc002yjy.1 + 19 2653 c.2436C>G c.(2434-2436)ATC>ATG p.I812M USP25_uc011aby.1_Missense_Mutation_p.I882M|USP25_uc002yjz.1_Missense_Mutation_p.I844M|USP25_uc010gla.1_Intron NM_013396 NP_037528 Q9UHP3 UBP25_HUMAN ubiquitin specific peptidase 25 812 protein modification process|ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3)|liver(2) 5 Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889) TCTACTTTATCCAGAACCAGG 0.348 NaN 0 0 0 0.00333 0 23 30 GRIK1 2897 broad.mit.edu 37 21 31023467 31023467 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:31023467C>T uc002yno.1 - 6 1389 c.925G>A c.(925-927)GAG>AAG p.E309K GRIK1_uc002ynn.2_Missense_Mutation_p.E309K|GRIK1_uc011acs.1_Missense_Mutation_p.E309K|GRIK1_uc011act.1_Missense_Mutation_p.E253K|GRIK1_uc010glq.1_Missense_Mutation_p.E167K|GRIK1_uc002ynr.2_Missense_Mutation_p.E309K NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 309 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AGGCCAGTCTCGGGCCTGGGT 0.463 NaN 0 0 0 0.000602 0 5 52 KRTAP24-1 643803 broad.mit.edu 37 21 31655209 31655209 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:31655209G>A uc002ynv.2 - 1 68 c.42C>T c.(40-42)GTC>GTT p.V14V NM_001085455 NP_001078924 Q3LI83 KR241_HUMAN keratin associated protein 24-1 14 keratin filament structural molecule activity 0 TGGTACTGCAGACACCAGGAT 0.493 NaN 0 0 0 0.001368 0 10 28 KRTAP19-4 337971 broad.mit.edu 37 21 31869328 31869328 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:31869328C>T uc011acz.1 - 1 101 c.101G>A c.(100-102)AGA>AAA p.R34K NM_181610 NP_853641 Q3LI73 KR194_HUMAN keratin associated protein 19-4 34 intermediate filament ovary(2) 2 ATAACCCAGTCTGCGGAAGCT 0.527 NaN 0 0 0 0.00632 0 26 119 TIAM1 7074 broad.mit.edu 37 21 32519265 32519265 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:32519265G>C uc002yow.1 - 21 3895 c.3423C>G c.(3421-3423)CTC>CTG p.L1141L TIAM1_uc011adk.1_Silent_p.L1141L|TIAM1_uc011adl.1_Silent_p.L1081L NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1141 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AGGCACTGTAGAGCTTGAAGC 0.517 NaN 0 0 0 0.004482 0 7 28 SYNJ1 8867 broad.mit.edu 37 21 34038745 34038745 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:34038745G>C uc002yqh.2 - 16 2067 c.2067C>G c.(2065-2067)ATC>ATG p.I689M SYNJ1_uc011ads.1_Missense_Mutation_p.I645M|SYNJ1_uc002yqf.2_Missense_Mutation_p.I650M|SYNJ1_uc002yqg.2_Missense_Mutation_p.I645M|SYNJ1_uc002yqi.2_Missense_Mutation_p.I689M NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 650 Catalytic (Potential). inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 TTACTGACCTGATAAAAGGAG 0.388 NaN 0 0 0 0.003755 0 35 208 DOPEY2 9980 broad.mit.edu 37 21 37595610 37595610 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:37595610C>G uc002yvg.2 + 11 1411 c.1332C>G c.(1330-1332)CTC>CTG p.L444L DOPEY2_uc011aeb.1_Silent_p.L444L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 444 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 CAGACTTTCTCTGGGATTATA 0.368 NaN 0 0 0 0.007413 0 17 91 LRRC3 81543 broad.mit.edu 37 21 45876864 45876864 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:45876864G>A uc002zfa.2 + 2 630 c.337G>A c.(337-339)GGG>AGG p.G113R NM_030891 NP_112153 Q9BY71 LRRC3_HUMAN leucine-rich repeat-containing 3 precursor 113 integral to membrane protein binding 0 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) GGGCCTGGCCGGGGGCCTGCG 0.677 NaN 0 0 0 0.00308 0 7 38 PCBP3 54039 broad.mit.edu 37 21 47359997 47359997 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr21:47359997G>A uc002zhq.1 + 13 1088 c.963G>A c.(961-963)CAG>CAA p.Q321Q PCBP3_uc002zhp.1_Silent_p.Q301Q|PCBP3_uc002zhs.1_Silent_p.Q295Q|PCBP3_uc002zhr.1_Silent_p.Q320Q|PCBP3_uc002zht.1_Silent_p.Q311Q NM_020528 NP_065389 P57721 PCBP3_HUMAN poly(rC) binding protein 3 isoform 1 321 KH 3. mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding skin(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) AAATTCGACAGATGTCTGGAG 0.532 NaN 0 0 0 0.008291 0 10 47 CABIN1 23523 broad.mit.edu 37 22 24468354 24468354 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:24468354C>T uc002zzi.1 + 18 2653 c.2526C>T c.(2524-2526)GTC>GTT p.V842V CABIN1_uc002zzj.1_Silent_p.V792V|CABIN1_uc002zzl.1_Silent_p.V842V NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 842 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AGCCCCACGTCTCTTCAGTGC 0.582 NaN 0 0 0 0.00308 0 7 34 RFPL1 5988 broad.mit.edu 37 22 29835056 29835056 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:29835056C>T uc003afn.2 + 1 485 c.276C>T c.(274-276)CCC>CCT p.P92P RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 92 zinc ion binding 0 AAATCAGGCCCAGTTGGCAGC 0.512 NaN 0 0 0 0.001855 0 13 61 THOC5 8563 broad.mit.edu 37 22 29921847 29921847 + Silent SNP C C T rs150202892 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:29921847C>T uc003afr.2 - 13 1490 c.1155G>A c.(1153-1155)CTG>CTA p.L385L THOC5_uc003afq.2_Silent_p.L46L|THOC5_uc003afs.2_Silent_p.L385L|THOC5_uc003aft.2_Silent_p.L385L|THOC5_uc003afu.2_Silent_p.L385L|THOC5_uc010gvo.2_Silent_p.L129L NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 385 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 TGGGGGTGATCAGCTCCATGG 0.547 NaN 0 0 0 0.001855 0 11 52 OSBP2 23762 broad.mit.edu 37 22 31266642 31266642 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:31266642C>T uc003aiy.1 + 3 1184 c.1080C>T c.(1078-1080)TTC>TTT p.F360F OSBP2_uc011ala.1_Silent_p.F195F|OSBP2_uc010gwc.1_Silent_p.F187F|OSBP2_uc003aix.1_Silent_p.F360F|OSBP2_uc011alb.1_Silent_p.F360F|OSBP2_uc003aiz.1_Silent_p.F360F|OSBP2_uc003aja.1_5'UTR|OSBP2_uc011alc.1_Silent_p.F102F NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 360 lipid transport membrane lipid binding breast(1)|skin(1) 2 CCACCCTCTTCCGCATCACAT 0.647 NaN 0 0 0 0.001984 0 7 24 C22orf28 51493 broad.mit.edu 37 22 32788307 32788307 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:32788307C>T uc003amm.2 - 11 1461 c.1330G>A c.(1330-1332)GAT>AAT p.D444N NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN hypothetical protein LOC51493 444 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding 0 TCCTGGAAATCTAAATTACGT 0.413 NaN 0 0 0 0.004482 0 8 40 TIMP3 7078 broad.mit.edu 37 22 33255169 33255169 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:33255169C>T uc003anb.2 + 5 1627 c.441C>T c.(439-441)ATC>ATT p.I147I SYN3_uc003amx.2_Intron|SYN3_uc003amy.2_Intron|SYN3_uc003amz.2_Intron NM_000362 NP_000353 P35625 TIMP3_HUMAN tissue inhibitor of metalloproteinase 3 147 Mediates interaction with EFEMP1. negative regulation of membrane protein ectodomain proteolysis|visual perception metal ion binding|metalloendopeptidase inhibitor activity|protein binding lung(1) 1 AATTGCAGATCAAGTCCTGCT 0.537 NaN 0 0 0 0.010729 0 12 37 MYH9 4627 broad.mit.edu 37 22 36689431 36689431 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:36689431C>T uc003apg.2 - 30 4270 c.4039G>A c.(4039-4041)GAG>AAG p.E1347K NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1347 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TCCTCCTCCTCCTCCAGCTGC 0.637 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.001368 0 13 43 POLR2F 5435 broad.mit.edu 37 22 38352817 38352817 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:38352817G>A uc003aul.2 + 2 179 c.58G>A c.(58-60)GAA>AAA p.E20K POLR2F_uc010gxi.2_5'UTR|POLR2F_uc003aum.2_RNA NM_021974 NP_068809 P61218 RPAB2_HUMAN DNA directed RNA polymerase II polypeptide F 20 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex|nucleolus DNA binding|DNA-directed RNA polymerase activity breast(1) 1 Melanoma(58;0.045) GGAGGAGGATGAAGGGCTAGA 0.458 NaN 0 0 0 0.00308 0 8 38 RANGAP1 5905 broad.mit.edu 37 22 41647082 41647082 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr22:41647082G>T uc003azs.2 - 12 2882 c.1412C>A c.(1411-1413)TCT>TAT p.S471Y RANGAP1_uc003azt.2_Missense_Mutation_p.S471Y|RANGAP1_uc003azu.2_Missense_Mutation_p.S471Y|RANGAP1_uc003azr.2_Translation_Start_Site|RANGAP1_uc010gyk.2_Translation_Start_Site|RANGAP1_uc011aoz.1_Missense_Mutation_p.S416Y NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 471 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 TAGGAAGGCAGAGACCACCTT 0.562 NaN 1 0 1.12685e-05 0.004482 1.17097e-05 9 35 TRNT1 51095 broad.mit.edu 37 3 3189210 3189210 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:3189210G>A uc003bpp.3 + 7 981 c.879G>A c.(877-879)GTG>GTA p.V293V TRNT1_uc010hbv.2_Silent_p.V273V|TRNT1_uc003bpm.2_RNA NM_182916 NP_886552 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 293 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding 0 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) CAAAGCCAGTGACTCTTTTGG 0.353 NaN 0 0 0 0.003954 0 22 47 ZFYVE20 64145 broad.mit.edu 37 3 15124116 15124116 + Splice_Site SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:15124116C>G uc003bzm.1 - 9 1213 c.599_splice c.e9-1 p.N200_splice ZFYVE20_uc010hek.1_Splice_Site_p.N200_splice|ZFYVE20_uc011avn.1_Intron NM_022340 NP_071735 Q9H1K0 RBNS5_HUMAN FYVE-finger-containing Rab5 effector protein blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding skin(2) 2 GTGAGCTTGTCTGTAACCACA 0.572 NaN 0 0 0 0.006214 0 10 18 EAF1 85403 broad.mit.edu 37 3 15475961 15475961 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:15475961C>T uc003bzu.2 + 4 665 c.442C>T c.(442-444)CCA>TCA p.P148S EAF1_uc011avq.1_Missense_Mutation_p.P47S NM_033083 NP_149074 Q96JC9 EAF1_HUMAN ELL associated factor 1 148 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent Cajal body|nuclear speck protein binding central_nervous_system(1) 1 ATTCAGAGCTCCAACGAAGCC 0.522 NaN 0 0 0 0.004878 0 38 244 VIPR1 7433 broad.mit.edu 37 3 42573763 42573763 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:42573763C>T uc003clf.2 + 10 1072 c.948C>T c.(946-948)ATC>ATT p.I316I VIPR1_uc011azl.1_Silent_p.I268I|VIPR1_uc011azm.1_Silent_p.I106I|VIPR1_uc011azn.1_Silent_p.I289I|VIPR1_uc003clg.2_5'UTR NM_004624 NP_004615 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 316 Helical; Name=5; (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.241) TTTGCATCATCCGAATCCTGC 0.567 NaN 0 0 0 0.006122 0 18 29 CCRL2 9034 broad.mit.edu 37 3 46450087 46450087 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:46450087C>G uc003cpp.3 + 2 802 c.517C>G c.(517-519)CAG>GAG p.Q173E CCRL2_uc010hjg.2_Missense_Mutation_p.Q185E|CCRL2_uc010hjf.2_Missense_Mutation_p.Q173E NM_003965 NP_003956 O00421 CCRL2_HUMAN chemokine (C-C motif) receptor-like 2 isoform 1 173 Extracellular (Potential). chemotaxis|inflammatory response integral to plasma membrane CCR chemokine receptor binding|chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) TTATAAACCTCAGATGGAAGA 0.463 NaN 0 0 0 0.001368 0 13 68 APEH 327 broad.mit.edu 37 3 49713611 49713611 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:49713611G>A uc003cxf.2 + 6 965 c.565G>A c.(565-567)GAT>AAT p.D189N APEH_uc010hkw.1_Missense_Mutation_p.D189N NM_001640 NP_001631 P13798 ACPH_HUMAN N-acylaminoacyl-peptide hydrolase 189 proteolysis cytoplasm|nuclear membrane serine-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGCCAGCGATGATGAGATAGC 0.592 NaN 0 0 0 0.001168 0 6 46 MST1R 4486 broad.mit.edu 37 3 49933757 49933757 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:49933757C>T uc003cxy.3 - 10 2784 c.2520G>A c.(2518-2520)GGG>GGA p.G840G MST1R_uc011bdd.1_Silent_p.G841G|MST1R_uc011bdc.1_5'UTR NM_002447 NP_002438 Q04912 RON_HUMAN macrophage stimulating 1 receptor precursor 840 IPT/TIG 3.|Extracellular (Potential). cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding ovary(5)|lung(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CACTCAGATTCCCTGCCACCC 0.597 NaN 0 0 0 0.003954 0 22 75 TLR9 54106 broad.mit.edu 37 3 52264889 52264889 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:52264889C>T uc003ddb.2 - 2 228 c.18G>A c.(16-18)CAG>CAA p.Q6Q TLR9_uc003ddc.1_5'Flank|TWF2_uc003ddd.2_Silent_p.Q202Q|TWF2_uc010hmc.2_Silent_p.Q202Q NM_017442 NP_059138 Q9NR96 TLR9_HUMAN toll-like receptor 9 isoform A precursor Error:Variant_position_missing_in_Q9NR96_after_alignment defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity large_intestine(2)|skin(2) 4 BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Chloroquine(DB00608) CACCCACCATCTGGATGTAGT 0.617 NaN 0 0 0 0.004672 0 3 15 GLYCTK 132158 broad.mit.edu 37 3 52325046 52325046 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:52325046G>A uc003ddo.2 + 3 544 c.448G>A c.(448-450)GAT>AAT p.D150N GLYCTK_uc003ddq.2_Missense_Mutation_p.D150N|GLYCTK_uc003ddm.2_RNA|GLYCTK_uc003ddn.2_RNA|GLYCTK_uc003ddp.1_Missense_Mutation_p.D150N|GLYCTK_uc003ddr.2_5'Flank NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN glycerate kinase isoform 1 150 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) CCCGGACCGCGATGCGCTGCG 0.617 NaN 0 0 0 0.001168 0 6 42 NISCH 11188 broad.mit.edu 37 3 52523592 52523592 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:52523592G>C uc011beg.1 + 18 3426 c.3354G>C c.(3352-3354)GAG>GAC p.E1118D NISCH_uc003ded.3_Missense_Mutation_p.E1118D|NISCH_uc003dee.3_Missense_Mutation_p.E607D|NISCH_uc003deg.1_RNA|NISCH_uc003deh.3_5'Flank NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN nischarin 1118 apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity ovary(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) CCTCGGAGGAGAATCAGATCC 0.458 NaN 0 0 0 0.010729 0 12 77 PRKCD 5580 broad.mit.edu 37 3 53212459 53212459 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:53212459C>T uc003dgl.2 + 3 374 c.21C>T c.(19-21)ATC>ATT p.I7I PRKCD_uc003dgm.2_Silent_p.I7I|PRKCD_uc003dgn.2_Silent_p.I7I NM_006254 NP_006245 Q05655 KPCD_HUMAN protein kinase C, delta 7 C2. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) TCCTGCGCATCGCCTTCAACT 0.682 NaN 0 0 0 0.00308 0 6 42 PDZRN3 23024 broad.mit.edu 37 3 73438983 73438983 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:73438983C>T uc003dpl.1 - 7 1496 c.1400G>A c.(1399-1401)GGA>GAA p.G467E PDZRN3_uc011bgh.1_Missense_Mutation_p.G124E|PDZRN3_uc010hoe.1_Missense_Mutation_p.G165E|PDZRN3_uc011bgf.1_Missense_Mutation_p.G184E|PDZRN3_uc011bgg.1_Missense_Mutation_p.G187E NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 467 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) AATGCGGTCTCCTTCTCGGAT 0.468 NaN 0 0 0 0.001855 0 13 39 CNTN3 5067 broad.mit.edu 37 3 74350684 74350684 + Missense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:74350684C>A uc003dpm.1 - 15 2040 c.1960G>T c.(1960-1962)GAT>TAT p.D654Y NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 654 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GTCTTCCCATCGATGACCTCA 0.443 NaN 1 0 0.004672 0.004672 0.00475469 3 71 MYH15 22989 broad.mit.edu 37 3 108203941 108203941 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:108203941C>G uc003dxa.1 - 12 1228 c.1171G>C c.(1171-1173)GAA>CAA p.E391Q NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 391 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TTCTTACTTTCTGTGCCATCT 0.383 NaN 0 0 0 0.008871 0 19 48 TMPRSS7 344805 broad.mit.edu 37 3 111769523 111769523 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:111769523G>A uc010hqb.2 + 7 888 c.718G>A c.(718-720)GAA>AAA p.E240K TMPRSS7_uc011bhr.1_Missense_Mutation_p.E95K NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 366 Extracellular (Potential).|CUB 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 TCCAGAGTGTGAAAACACAGT 0.398 NaN 0 0 0 0.002836 0 32 207 CD200R1L 344807 broad.mit.edu 37 3 112546253 112546253 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:112546253C>T uc003dzi.1 - 3 617 c.391G>A c.(391-393)GAT>AAT p.D131N CD200R1L_uc011bhw.1_Missense_Mutation_p.D110N|CD200R1L_uc010hqf.1_Missense_Mutation_p.D110N NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 131 Ig-like V-type.|Extracellular (Potential). integral to membrane receptor activity ovary(1) 1 AAATTCCCATCAGGTGTTACC 0.453 NaN 0 0 0 0.010504 0 20 90 CD200R1L 344807 broad.mit.edu 37 3 112546398 112546398 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:112546398C>T uc003dzi.1 - 3 472 c.246G>A c.(244-246)AAG>AAA p.K82K CD200R1L_uc011bhw.1_Silent_p.K61K|CD200R1L_uc010hqf.1_Silent_p.K61K NM_001008784 NP_001008784 Q6Q8B3 MO2R2_HUMAN CD200 cell surface glycoprotein receptor 2 82 Ig-like V-type.|Extracellular (Potential). integral to membrane receptor activity ovary(1) 1 TTGTTTCTTTCTTGTAGGCTT 0.438 NaN 0 0 0 0.001855 0 13 74 CCDC52 152185 broad.mit.edu 37 3 113172624 113172624 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:113172624C>T uc003eag.3 - 14 2122 c.1831G>A c.(1831-1833)GAA>AAA p.E611K CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.E507K NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 611 cell division|mitosis centriole|spindle protein binding 0 TCCAAATCTTCTCCCATGTGA 0.438 NaN 0 0 0 0.002836 0 34 93 ATP6V1A 523 broad.mit.edu 37 3 113528247 113528247 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:113528247G>A uc003eao.2 + 15 1893 c.1827G>A c.(1825-1827)CAG>CAA p.Q609Q ATP6V1A_uc011bik.1_Silent_p.Q576Q NM_001690 NP_001681 P38606 VATA_HUMAN ATPase, H+ transporting, lysosomal V1 subunit A 609 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism ovary(2)|skin(1) 3 AAGACATGCAGAATGCATTCC 0.393 NaN 0 0 0 0.001984 0 7 48 POLQ 10721 broad.mit.edu 37 3 121206874 121206874 + Nonsense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:121206874G>C uc003eee.3 - 16 5033 c.4904C>G c.(4903-4905)TCA>TGA p.S1635* POLQ_uc003eed.2_Nonsense_Mutation_p.S807* NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 1635 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) TAGATCAAATGATGCCCCTGA 0.373 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.00361 0 63 166 GOLGB1 2804 broad.mit.edu 37 3 121411306 121411306 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:121411306C>T uc003eei.3 - 14 7016 c.6890G>A c.(6889-6891)CGC>CAC p.R2297H GOLGB1_uc010hrc.2_Missense_Mutation_p.R2302H|GOLGB1_uc003eej.3_Missense_Mutation_p.R2263H NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2297 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) GTATAGGTGGCGTGTCTCTTC 0.433 NaN 0 0 0 0.001855 0 13 90 ILDR1 286676 broad.mit.edu 37 3 121725918 121725918 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:121725918G>A uc003ees.2 - 2 255 c.149C>T c.(148-150)TCT>TTT p.S50F ILDR1_uc003eeq.2_Missense_Mutation_p.S62F|ILDR1_uc003eer.2_Missense_Mutation_p.S50F|ILDR1_uc010hrg.2_Missense_Mutation_p.S50F NM_175924 NP_787120 Q86SU0 ILDR1_HUMAN immunoglobulin-like domain containing receptor 50 Extracellular (Potential).|Ig-like V-type. cytosol|integral to membrane|plasma membrane receptor activity skin(1) 1 GBM - Glioblastoma multiforme(114;0.156) GAGCTGGGCAGAGGTGGTGTA 0.527 NaN 0 0 0 0.008291 0 9 58 RUVBL1 8607 broad.mit.edu 37 3 127831851 127831851 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:127831851G>A uc003ekh.2 - 3 345 c.241C>T c.(241-243)CTG>TTG p.L81L RUVBL1_uc003ekf.2_Silent_p.L21L|RUVBL1_uc010hss.2_Silent_p.L81L NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 81 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) GCAATAGCCAGAGCCAGAGCT 0.483 NaN 0 0 0 0.004482 0 9 82 MRPL3 11222 broad.mit.edu 37 3 131217033 131217033 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:131217033G>A uc003eoh.2 - 4 622 c.458C>T c.(457-459)TCA>TTA p.S153L MRPL3_uc011blo.1_Missense_Mutation_p.S48L|MRPL3_uc011blp.1_Missense_Mutation_p.S180L NM_007208 NP_009139 P09001 RM03_HUMAN mitochondrial ribosomal protein L3 153 translation mitochondrial large ribosomal subunit RNA binding|structural constituent of ribosome 0 ACGAAAACGTGATACAGTTTT 0.348 NaN 0 0 0 0.008871 0 18 71 TF 7018 broad.mit.edu 37 3 133494392 133494392 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:133494392C>T uc003epu.1 + 20 3531 c.1803C>T c.(1801-1803)GCC>GCT p.A601A TF_uc011blt.1_Silent_p.A474A|TF_uc003epw.1_Silent_p.T40T|TF_uc003epv.1_Silent_p.A601A NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 601 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) TGGCCAGAGCCCCGAATCACG 0.512 NaN 0 0 0 0.001855 0 13 179 ATR 545 broad.mit.edu 37 3 142188970 142188970 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:142188970G>C uc003eux.3 - 37 6399 c.6277C>G c.(6277-6279)CTA>GTA p.L2093V ATR_uc003euy.1_5'Flank NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2093 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TCAAGCCATAGAGTTAACATT 0.318 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.009096 0 4 22 ZIC1 7545 broad.mit.edu 37 3 147131226 147131226 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:147131226C>T uc003ewe.2 + 3 1951 c.1232C>T c.(1231-1233)TCT>TTT p.S411F NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 411 Ser-rich. behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 ACCATCGTGTCTCCCTCCACA 0.607 NaN 0 0 0 0.010729 0 11 72 IGSF10 285313 broad.mit.edu 37 3 151163978 151163978 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:151163978G>C uc011bod.1 - 4 3791 c.3791C>G c.(3790-3792)TCT>TGT p.S1264C NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1264 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CAAGGTATTAGATGGAATTTG 0.458 NaN 0 0 0 0.00333 0 24 114 IGSF10 285313 broad.mit.edu 37 3 151164002 151164002 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:151164002G>A uc011bod.1 - 4 3767 c.3767C>T c.(3766-3768)TCA>TTA p.S1256L NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1256 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CACACTTGTTGAAAGTGTGGT 0.418 NaN 0 0 0 0.00333 0 23 123 PLCH1 23007 broad.mit.edu 37 3 155232674 155232674 + Splice_Site SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:155232674C>G uc011bok.1 - 11 1712 c.1435_splice c.e11-1 p.S479_splice PLCH1_uc011boj.1_Splice_Site_p.S479_splice|PLCH1_uc011bol.1_Splice_Site_p.S461_splice NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TCCCATTACTCTGCAAAGAAT 0.348 NaN 0 0 0 0.000602 0 5 36 GFM1 85476 broad.mit.edu 37 3 158383171 158383171 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:158383171G>C uc003fce.2 + 12 1533 c.1426G>C c.(1426-1428)GAA>CAA p.E476Q GFM1_uc003fcd.2_Missense_Mutation_p.E476Q|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Missense_Mutation_p.E407Q NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 476 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) GTTTACAAGAGAAGATCCCAC 0.348 NaN 0 0 0 0.006214 0 8 36 GFM1 85476 broad.mit.edu 37 3 158384153 158384153 + Nonsense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:158384153G>T uc003fce.2 + 13 1686 c.1579G>T c.(1579-1581)GAG>TAG p.E527* GFM1_uc003fcd.2_Nonsense_Mutation_p.E527*|GFM1_uc003fcf.2_RNA|GFM1_uc003fcg.2_Nonsense_Mutation_p.E458* NM_024996 NP_079272 Q96RP9 EFGM_HUMAN G elongation factor, mitochondrial 1 precursor 527 mitochondrial translational elongation mitochondrion GTP binding|GTPase activity|translation elongation factor activity ovary(3)|central_nervous_system(1) 4 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) TGCCTTTCGAGAGACCATTAC 0.358 NaN 1 0 8.12818e-05 0.001984 8.35834e-05 7 31 WDR49 151790 broad.mit.edu 37 3 167245664 167245664 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:167245664C>T uc003fev.1 - 11 1798 c.1492G>A c.(1492-1494)GAC>AAC p.D498N WDR49_uc003feu.1_Missense_Mutation_p.D323N|WDR49_uc011bpd.1_Intron|WDR49_uc003few.1_Intron NM_178824 NP_849146 Q8IV35 WDR49_HUMAN WD repeat domain 49 498 WD 8. large_intestine(1)|ovary(1)|skin(1) 3 ATACTGCAGTCTGCAGAGGAG 0.413 NaN 0 0 0 0.000602 0 5 25 PDCD10 11235 broad.mit.edu 37 3 167414891 167414891 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:167414891G>A uc003fex.2 - 5 572 c.174C>T c.(172-174)CTC>CTT p.L58L PDCD10_uc003fez.2_Silent_p.L58L|PDCD10_uc003fey.2_Silent_p.L58L NM_007217 NP_009148 Q9BUL8 PDC10_HUMAN programmed cell death 10 58 angiogenesis|apoptosis|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of MAP kinase activity cytosol|Golgi membrane|plasma membrane protein homodimerization activity|protein N-terminus binding lung(1)|central_nervous_system(1) 2 TGTCTTGTGTGAGACCTGGAT 0.333 NaN Familial_Cerebral_Cavernous_Angioma 0 0 0 0.006214 0 10 42 SKIL 6498 broad.mit.edu 37 3 170108952 170108952 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:170108952G>C uc003fgu.2 + 6 2512 c.1800G>C c.(1798-1800)CAG>CAC p.Q600H SKIL_uc011bps.1_Missense_Mutation_p.Q580H|SKIL_uc003fgv.2_Missense_Mutation_p.Q554H|SKIL_uc003fgw.2_Missense_Mutation_p.Q600H NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 600 Potential. cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATGTTGAACAGAAAGACTTAG 0.348 NaN 0 0 0 0.001984 0 7 52 EIF2B5 8893 broad.mit.edu 37 3 183860565 183860565 + Splice_Site SNP A A C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:183860565A>C uc003fmp.2 + 11 1911 c.1547_splice c.e11-2 p.G516_splice EIF2B5_uc003fmq.2_Splice_Site_p.G237_splice|EIF2B5_uc003fmr.2_5'Flank NM_003907 NP_003898 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding ovary(5) 5 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) ATGGCTTCTCAGGACTCAAGA 0.458 NaN 0 0 0 0.001168 0 6 13 VPS8 23355 broad.mit.edu 37 3 184570306 184570306 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:184570306C>G uc003fpb.1 + 10 937 c.766C>G c.(766-768)CTT>GTT p.L256V VPS8_uc010hyd.1_Missense_Mutation_p.L256V NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 258 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) TGATCCAACTCTTGCAATTTG 0.313 NaN 0 0 0 0.009096 0 4 35 MAP3K13 9175 broad.mit.edu 37 3 185191489 185191489 + Silent SNP C C T rs148543279 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:185191489C>T uc010hyf.2 + 12 2636 c.2370C>T c.(2368-2370)CTC>CTT p.L790L MAP3K13_uc011brt.1_Silent_p.L583L|MAP3K13_uc011bru.1_Silent_p.L646L|MAP3K13_uc003fpi.2_Silent_p.L790L|MAP3K13_uc010hyg.2_Silent_p.L480L NM_004721 NP_004712 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 790 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding ovary(2)|skin(1) 3 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) AGTCATCCCTCGGCACCTCTC 0.512 NaN 0 0 0 0.00361 0 44 132 HRG 3273 broad.mit.edu 37 3 186395041 186395041 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:186395041C>T uc003fqq.2 + 7 970 c.947C>T c.(946-948)CCT>CTT p.P316L NM_000412 NP_000403 P04196 HRG_HUMAN histidine-rich glycoprotein precursor 316 Pro-rich. fibrinolysis|platelet activation|platelet degranulation extracellular region|plasma membrane|platelet alpha granule lumen cysteine-type endopeptidase inhibitor activity|heparin binding ovary(1)|central_nervous_system(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0683) CCACAAGGCCCTCCTCCACTA 0.493 NaN 0 0 0 0.001855 0 13 70 C3orf21 152002 broad.mit.edu 37 3 194790491 194790491 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:194790491C>T uc003fum.3 - 4 1243 c.1135G>A c.(1135-1137)GTC>ATC p.V379I C3orf21_uc003ful.2_Missense_Mutation_p.V176I|C3orf21_uc003fuk.2_Missense_Mutation_p.V173I NM_152531 NP_689744 Q8NBI6 CC021_HUMAN hypothetical protein LOC152002 379 integral to membrane transferase activity, transferring glycosyl groups 0 all_cancers(143;9.33e-09)|Ovarian(172;0.0634) Epithelial(36;1.73e-20)|all cancers(36;1.42e-18)|OV - Ovarian serous cystadenocarcinoma(49;1.56e-17)|Lung(62;0.000117)|LUSC - Lung squamous cell carcinoma(58;0.000146) GBM - Glioblastoma multiforme(46;1.36e-05) TAGATCTTGACGTGGCCCTCA 0.627 NaN 0 0 0 0.001855 0 12 101 LRCH3 84859 broad.mit.edu 37 3 197593030 197593030 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr3:197593030C>G uc011bul.1 + 17 1818 c.1813C>G c.(1813-1815)CAG>GAG p.Q605E LRCH3_uc003fyj.1_Missense_Mutation_p.Q605E|LRCH3_uc011bum.1_Missense_Mutation_p.Q553E|LRCH3_uc011bun.1_Missense_Mutation_p.Q451E|LRCH3_uc003fyk.2_Missense_Mutation_p.Q200E NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 605 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) CCAGAGAAATCAGCCTCAGCG 0.433 NaN 0 0 0 0.00245 0 11 83 ZNF721 170960 broad.mit.edu 37 4 435805 435805 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:435805C>T uc003gag.2 - 3 3142 c.2451G>A c.(2449-2451)GCG>GCA p.A817A ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Silent_p.A849A|ZNF721_uc010ibe.2_Silent_p.A805A NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 817 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 AACTAGTAAACGCTTTACCAC 0.393 NaN 0 0 0 0.00245 0 12 44 KIAA1530 57654 broad.mit.edu 37 4 1347183 1347183 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:1347183G>A uc003gde.3 + 5 1363 c.916G>A c.(916-918)GAT>AAT p.D306N NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 306 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) GTACACGCTGGATGTGGAGCT 0.667 NaN 0 0 0 0.009096 0 4 5 MSX1 4487 broad.mit.edu 37 4 4864675 4864675 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:4864675G>C uc003gif.2 + 2 952 c.717G>C c.(715-717)AAG>AAC p.K239N NM_002448 NP_002439 P28360 MSX1_HUMAN msh homeobox 1 233 apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization nucleus p53 binding|sequence-specific DNA binding transcription factor activity 0 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) AGAAGCTGAAGATGGCCGCCA 0.657 NaN 0 0 0 0.004482 0 7 26 SEL1L3 23231 broad.mit.edu 37 4 25789920 25789920 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:25789920C>G uc003gru.3 - 13 2295 c.2143G>C c.(2143-2145)GAG>CAG p.E715Q SEL1L3_uc003grv.2_Missense_Mutation_p.E122Q NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 715 Sel1-like 3. integral to membrane binding 0 GCGTACCACTCAATTGCTGCT 0.468 NaN 0 0 0 0.003163 0 15 87 TLR10 81793 broad.mit.edu 37 4 38776503 38776503 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:38776503G>C uc003gti.2 - 2 1088 c.709C>G c.(709-711)CTT>GTT p.L237V TLR10_uc003gtj.2_Missense_Mutation_p.L237V|TLR10_uc003gtk.2_Missense_Mutation_p.L237V NM_030956 NP_112218 Q9BXR5 TLR10_HUMAN toll-like receptor 10 precursor 237 Extracellular (Potential). inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway integral to membrane|plasma membrane transmembrane receptor activity lung(1)|breast(1) 2 TCTAAACTAAGATTTCGTTGC 0.328 NaN 0 0 0 0.003163 0 14 24 RFC1 5981 broad.mit.edu 37 4 39308303 39308303 + Missense_Mutation SNP G G A rs55727832 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:39308303G>A uc003gty.1 - 14 2041 c.1907C>T c.(1906-1908)TCC>TTC p.S636F RFC1_uc003gtx.1_Missense_Mutation_p.S635F NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 636 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 ATCTTTGCCGGAAAATTTACC 0.458 NaN 0 0 0 0.004482 0 9 25 CXCL13 10563 broad.mit.edu 37 4 78527049 78527049 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:78527049C>T uc003hkr.2 + 2 108 c.30C>T c.(28-30)CTC>CTT p.L10L NM_006419 NP_006410 O43927 CXL13_HUMAN chemokine (C-X-C motif) ligand 13 (B-cell 10 activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity 0 CTCTGCTTCTCATGCTGCTGG 0.443 NaN 0 0 0 0.004482 0 8 48 WDFY3 23001 broad.mit.edu 37 4 85662946 85662946 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:85662946G>C uc003hpd.2 - 38 6610 c.6202C>G c.(6202-6204)CTT>GTT p.L2068V NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 2068 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) AAATCTATAAGAAGTTTAGAT 0.368 NaN 0 0 0 0.008291 0 11 66 ARHGAP24 83478 broad.mit.edu 37 4 86893235 86893235 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:86893235C>T uc003hpk.2 + 6 1095 c.646C>T c.(646-648)CGA>TGA p.R216* ARHGAP24_uc003hpj.2_Nonsense_Mutation_p.R216*|ARHGAP24_uc003hpl.2_Nonsense_Mutation_p.R121*|ARHGAP24_uc010ikf.2_Nonsense_Mutation_p.R131*|ARHGAP24_uc003hpm.2_Nonsense_Mutation_p.R123* NM_001025616 NP_001020787 Q8N264 RHG24_HUMAN Rho GTPase activating protein 24 isoform 1 216 Rho-GAP. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell projection|cytoskeleton|cytosol|focal adhesion GTPase activator activity|protein binding 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000571) GCTGTACCTCCGAGAACTTCC 0.418 NaN 0 0 0 0.001368 0 11 43 SMARCAD1 56916 broad.mit.edu 37 4 95155124 95155124 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:95155124G>C uc003htc.3 + 4 643 c.388G>C c.(388-390)GAA>CAA p.E130Q SMARCAD1_uc003htb.3_Missense_Mutation_p.E130Q|SMARCAD1_uc003htd.3_Missense_Mutation_p.E130Q|SMARCAD1_uc010ila.2_5'UTR NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 130 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) ATCTGAAGATGAAGAGTCCCA 0.274 NaN 0 0 0 0.001168 0 6 37 RG9MTD2 93587 broad.mit.edu 37 4 100479303 100479303 + Nonsense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:100479303G>C uc003huy.2 - 3 564 c.251C>G c.(250-252)TCA>TGA p.S84* RG9MTD2_uc003huz.3_Nonsense_Mutation_p.S84*|RG9MTD2_uc003hva.3_Nonsense_Mutation_p.S84* NM_152292 NP_689505 Q8TBZ6 RG9D2_HUMAN RNA (guanine-9-) methyltransferase domain 84 methyltransferase activity ovary(2)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.7e-08) ATGTCCATCTGAGTTTGGTTC 0.338 NaN 0 0 0 0.00308 0 8 47 BANK1 55024 broad.mit.edu 37 4 102981490 102981490 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:102981490C>G uc003hvy.3 + 12 2366 c.2092C>G c.(2092-2094)CTG>GTG p.L698V BANK1_uc003hvx.3_Missense_Mutation_p.L683V|BANK1_uc010ill.2_Missense_Mutation_p.L565V|BANK1_uc003hvz.3_Missense_Mutation_p.L668V NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 698 B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) GGATGAAGCTCTGGAGAAATT 0.453 NaN 0 0 0 0.000602 0 4 63 BDH2 56898 broad.mit.edu 37 4 104013836 104013836 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:104013836G>A uc003hwz.2 - 4 274 c.169C>T c.(169-171)CTT>TTT p.L57F BDH2_uc003hxa.2_RNA NM_020139 NP_064524 Q9BUT1 BDH2_HUMAN 3-hydroxybutyrate dehydrogenase, type 2 57 fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process cytoplasm 3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.02e-08) GTGACATCAAGGACACGAGTT 0.338 NaN 0 0 0 0.009096 0 4 9 INTS12 57117 broad.mit.edu 37 4 106614616 106614616 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:106614616C>G uc003hxw.2 - 5 595 c.337G>C c.(337-339)GAT>CAT p.D113H INTS12_uc010ilr.2_Missense_Mutation_p.D113H NM_020395 NP_065128 Q96CB8 INT12_HUMAN integrator complex subunit 12 113 snRNA processing integrator complex protein binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TTTGGAATATCAACTCCTTCA 0.373 NaN 0 0 0 0.003271 0 36 114 EGF 1950 broad.mit.edu 37 4 110882118 110882118 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:110882118C>T uc003hzy.3 + 7 1614 c.1162C>T c.(1162-1164)CTG>TTG p.L388L EGF_uc011cfu.1_Silent_p.L346L|EGF_uc011cfv.1_Silent_p.L388L NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 388 EGF-like 2; calcium-binding (Potential).|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGGATTTGTTCTGCTTCCTGA 0.388 NaN 0 0 0 0.001855 0 12 54 ALPK1 80216 broad.mit.edu 37 4 113362208 113362208 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:113362208G>A uc003iap.3 + 15 3953 c.3674G>A c.(3673-3675)TGT>TAT p.C1225Y ALPK1_uc003ian.3_Missense_Mutation_p.C1225Y|ALPK1_uc011cfx.1_Missense_Mutation_p.C1147Y|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.C1053Y NM_025144 NP_079420 Q96QP1 ALPK1_HUMAN alpha-kinase 1 1225 Alpha-type protein kinase. ATP binding|protein serine/threonine kinase activity ovary(5) 5 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) CATGTGGAATGTAATGAAATC 0.383 NaN 0 0 0 0.00499 0 16 132 PRDM5 11107 broad.mit.edu 37 4 121738027 121738027 + Nonsense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:121738027G>A uc003idn.2 - 6 953 c.703C>T c.(703-705)CAG>TAG p.Q235* PRDM5_uc003ido.2_Intron|PRDM5_uc010ine.2_Intron|PRDM5_uc010inf.2_Intron NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 235 C2H2-type 3; atypical. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 ACAGAGCACTGAAAACTTCGC 0.378 NaN 0 0 0 0.004289 0 31 165 PCDH10 57575 broad.mit.edu 37 4 134072563 134072563 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:134072563G>A uc003iha.2 + 1 2094 c.1268G>A c.(1267-1269)CGA>CAA p.R423Q uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R423Q NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 423 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CCCCTGGACCGAGAGGCGGGG 0.592 NaN 0 0 0 0.006999 0 34 155 FGA 2243 broad.mit.edu 37 4 155507837 155507837 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:155507837C>G uc003iod.1 - 5 802 c.744G>C c.(742-744)TGG>TGC p.W248C FGA_uc003ioe.1_Missense_Mutation_p.W248C|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 248 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TTAATGCCTTCCACTCTGGGG 0.473 NaN 0 0 0 0.006214 0 10 77 DDX60 55601 broad.mit.edu 37 4 169208323 169208323 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:169208323C>T uc003irp.2 - 10 1507 c.1215G>A c.(1213-1215)ATG>ATA p.M405I NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 405 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) CATAATCTTTCATAATGGTAT 0.353 NaN 0 0 0 0.001168 0 5 28 ODZ3 55714 broad.mit.edu 37 4 183664474 183664474 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:183664474G>A uc003ivd.1 + 18 3568 c.3531G>A c.(3529-3531)GCG>GCA p.A1177A ODZ3_uc003ive.1_Silent_p.A583A NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1177 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CCCCAGTGGCGCTAGCTTGTG 0.512 NaN 0 0 0 0.008291 0 10 44 C4orf41 60684 broad.mit.edu 37 4 184614842 184614842 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr4:184614842G>A uc003ivx.2 + 21 2514 c.2338G>A c.(2338-2340)GAA>AAA p.E780K C4orf41_uc003ivw.2_Missense_Mutation_p.E780K|C4orf41_uc010isc.2_Missense_Mutation_p.E124K|C4orf41_uc003ivy.2_Missense_Mutation_p.E386K NM_021942 NP_068761 Q7Z392 CD041_HUMAN hypothetical protein LOC60684 isoform a 780 0 all_lung(41;4.4e-14)|Lung NSC(41;1.03e-13)|Colorectal(36;0.00139)|all_hematologic(60;0.00756)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.202) all cancers(43;1.39e-26)|Epithelial(43;2.42e-22)|OV - Ovarian serous cystadenocarcinoma(60;6.85e-10)|GBM - Glioblastoma multiforme(59;6.71e-06)|Colorectal(24;9.67e-06)|STAD - Stomach adenocarcinoma(60;2.36e-05)|COAD - Colon adenocarcinoma(29;7.07e-05)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.171) TCAGTCCCATGAAAAGACCCA 0.393 NaN 0 0 0 0.004878 0 37 89 SLC12A7 10723 broad.mit.edu 37 5 1076837 1076837 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:1076837G>A uc003jbu.2 - 13 1786 c.1720C>T c.(1720-1722)CTG>TTG p.L574L NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 574 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) ACGCTGTCCAGAGAGGCGATG 0.667 NaN 0 0 0 0.001168 0 6 21 ADAMTS16 170690 broad.mit.edu 37 5 5235258 5235258 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:5235258G>C uc003jdl.2 + 13 2120 c.1982G>C c.(1981-1983)AGA>ACA p.R661T ADAMTS16_uc003jdk.1_Missense_Mutation_p.R661T|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 661 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 AGACGATTCAGAGGGCGGCAC 0.483 NaN 0 0 0 0.001855 0 13 35 KIAA0947 23379 broad.mit.edu 37 5 5476188 5476188 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:5476188G>C uc003jdm.3 + 17 6738 c.6516G>C c.(6514-6516)CTG>CTC p.L2172L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2172 ovary(1)|central_nervous_system(1) 2 TACTGAGGCTGATTGGTAAGT 0.353 NaN 0 0 0 0.004672 0 3 10 TRIO 7204 broad.mit.edu 37 5 14472765 14472765 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:14472765G>A uc003jff.2 + 39 5983 c.5977G>A c.(5977-5979)GAG>AAG p.E1993K TRIO_uc003jfg.2_RNA|TRIO_uc003jfh.1_Missense_Mutation_p.E1642K NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1993 DH 2. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CTATGTGGTTGAGGTGTGTAT 0.393 NaN 0 0 0 0.00499 0 15 62 RAD1 5810 broad.mit.edu 37 5 34913668 34913668 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:34913668C>T uc003jix.2 - 3 543 c.214G>A c.(214-216)GAG>AAG p.E72K RAD1_uc003jiw.2_Intron|RAD1_uc003jiy.2_Missense_Mutation_p.E72K|BRIX1_uc003jiz.2_5'Flank|BRIX1_uc011col.1_5'Flank|BRIX1_uc003jja.2_5'Flank NM_002853 NP_002844 O60671 RAD1_HUMAN RAD1 homolog 72 DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I nucleoplasm 3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding 0 all_lung(31;0.000107) Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) ACTTTAAACTCCTGAAATATT 0.284 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.001855 0 12 32 NUP155 9631 broad.mit.edu 37 5 37371030 37371030 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:37371030G>A uc003jku.1 - 1 168 c.50C>T c.(49-51)GCA>GTA p.A17V NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Missense_Mutation_p.A17V NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 17 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CTGCAGGGCTGCGGCAGATGT 0.557 NaN 0 0 0 0.010729 0 11 55 NUP155 9631 broad.mit.edu 37 5 37371140 37371140 + Translation_Start_Site SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:37371140G>C uc003jku.1 - 1 58 c.-60C>G c.(-62--58)ATCTT>ATGTT NUP155_uc003jkt.1_5'Flank|NUP155_uc010iuz.1_Translation_Start_Site NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AACAAGAAAAGATCCAAGAAG 0.567 NaN 0 0 0 0.000602 0 5 16 PTGER4 5734 broad.mit.edu 37 5 40681862 40681862 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:40681862G>A uc003jlz.2 + 2 1359 c.767G>A c.(766-768)CGC>CAC p.R256H NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 256 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 GACTTTCGGCGCCGCCGGAGC 0.716 NaN 0 0 0 0.001984 0 6 26 MIER3 166968 broad.mit.edu 37 5 56219227 56219227 + Missense_Mutation SNP A A T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:56219227A>T uc003jrd.1 - 13 1406 c.1381T>A c.(1381-1383)TAT>AAT p.Y461N MIER3_uc003jqz.1_Missense_Mutation_p.Y398N|MIER3_uc003jra.1_Missense_Mutation_p.Y460N|MIER3_uc003jrb.1_Missense_Mutation_p.Y285N|MIER3_uc003jrc.1_Missense_Mutation_p.Y466N NM_152622 NP_689835 Q7Z3K6 MIER3_HUMAN mesoderm induction early response 1, family 461 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;1.24e-37) TCCGAGTGATAAAATCCAGTC 0.423 NaN 0 0 0 0.010504 0 19 37 COL4A3BP 10087 broad.mit.edu 37 5 74675245 74675245 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:74675245C>G uc011csu.1 - 17 2223 c.1801G>C c.(1801-1803)GAG>CAG p.E601Q COL4A3BP_uc003kds.2_Missense_Mutation_p.E575Q|COL4A3BP_uc003kdt.2_Missense_Mutation_p.E729Q|COL4A3BP_uc003kdu.2_Missense_Mutation_p.E601Q NM_005713 NP_005704 Q9Y5P4 C43BP_HUMAN alpha 3 type IV collagen binding protein isoform 601 START. ER to Golgi ceramide transport|immune response cytosol|endoplasmic reticulum membrane|Golgi apparatus ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity skin(1) 1 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174) OV - Ovarian serous cystadenocarcinoma(47;1e-53) TTAGGATACTCTCGCTTTGCC 0.373 NaN 0 0 0 0.00245 0 13 20 MSH3 4437 broad.mit.edu 37 5 79950603 79950603 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:79950603G>A uc003kgz.2 + 1 310 c.57G>A c.(55-57)GCG>GCA p.A19A DHFR_uc011ctl.1_5'UTR|DHFR_uc011ctm.1_5'UTR|DHFR_uc010jap.1_RNA|DHFR_uc003kgx.1_Silent_p.L51L|DHFR_uc003kgy.1_5'UTR NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 19 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) CAGCCCCTGCGAGGCAAGCGG 0.667 NaN MMR 0 0 0 0.00308 0 6 12 MSH3 4437 broad.mit.edu 37 5 80024675 80024675 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:80024675C>G uc003kgz.2 + 10 1712 c.1459C>G c.(1459-1461)CAA>GAA p.Q487E NM_002439 NP_002430 P20585 MSH3_HUMAN mutS homolog 3 487 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding lung(2)|ovary(1)|breast(1) 4 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) TCTAGGTTCTCAAATTATTTC 0.264 NaN MMR 0 0 0 0.00499 0 15 53 VCAN 1462 broad.mit.edu 37 5 82832829 82832829 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:82832829G>A uc003kii.3 + 8 4363 c.4007G>A c.(4006-4008)CGA>CAA p.R1336Q VCAN_uc003kij.3_Missense_Mutation_p.R349Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_5'UTR NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 1336 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TTTTCAGGTCGAATGAGTGAT 0.368 NaN 0 0 0 0.00308 0 8 7 LNPEP 4012 broad.mit.edu 37 5 96349455 96349455 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:96349455C>T uc003kmv.1 + 12 2653 c.2139C>T c.(2137-2139)ATC>ATT p.I713I LNPEP_uc003kmw.1_Silent_p.I699I NM_005575 NP_005566 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase isoform 1 713 Extracellular (Potential). cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) AAGCACTAATCCATCAGTTGA 0.358 NaN 0 0 0 0.010729 0 11 65 TMED7 51014 broad.mit.edu 37 5 114951919 114951919 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:114951919C>T uc003krf.2 - 3 1043 c.662G>A c.(661-663)CGT>CAT p.R221H TMED7-TICAM2_uc003krd.2_Intron|TMED7-TICAM2_uc003kre.2_Intron|TMED7_uc011cwd.1_Missense_Mutation_p.R133H NM_181836 NP_861974 Q9Y3B3 TMED7_HUMAN transmembrane emp24 protein transport domain 221 Cytoplasmic (Potential). transport endoplasmic reticulum membrane|integral to membrane 0 all_cancers(142;0.0223)|all_epithelial(76;0.000869)|Prostate(80;0.0115)|Ovarian(225;0.156) OV - Ovarian serous cystadenocarcinoma(64;3.34e-07)|Epithelial(69;1.08e-06)|all cancers(49;4.56e-05) TGATCCAACACGAGTTGTGGT 0.378 NaN 0 0 0 0.001368 0 12 24 PCDHA1 56147 broad.mit.edu 37 5 140167237 140167237 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:140167237G>A uc003lhb.2 + 1 1362 c.1362G>A c.(1360-1362)GCG>GCA p.A454A PCDHA1_uc003lha.2_Silent_p.A454A|PCDHA1_uc003lgz.2_Silent_p.A454A NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 454 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGCGCCTGCGTTCGCGCAGC 0.677 NaN 0 0 0 0.005443 0 25 62 PCDHA10 56139 broad.mit.edu 37 5 140237249 140237249 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:140237249G>C uc003lhx.2 + 1 1616 c.1616G>C c.(1615-1617)GGG>GCG p.G539A PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc011dad.1_Missense_Mutation_p.G539A NM_018901 NP_061724 Q9Y5I2 PCDAA_HUMAN protocadherin alpha 10 isoform 1 precursor 539 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding ovary(2)|skin(2)|breast(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGCGCGATGGGGGCGTGCCG 0.687 NaN 0 0 0 0.000602 0 4 32 PCDHB4 56131 broad.mit.edu 37 5 140503600 140503600 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:140503600G>A uc003lip.1 + 1 2020 c.2020G>A c.(2020-2022)GAG>AAG p.E674K NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 674 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCTCTCCCTGAGGCGGCCCC 0.677 NaN 0 0 0 0.011902 0 43 76 PCDHB10 56126 broad.mit.edu 37 5 140574015 140574015 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:140574015G>A uc003lix.2 + 1 2064 c.1890G>A c.(1888-1890)CTG>CTA p.L630L NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 630 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGGCTGCTGAGCGAGCGCG 0.682 NaN 0 0 0 0.004482 0 5 24 PCDHGA1 56114 broad.mit.edu 37 5 140712087 140712087 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:140712087C>T uc003lji.1 + 1 1836 c.1836C>T c.(1834-1836)AGC>AGT p.S612S PCDHGA1_uc011dan.1_Silent_p.S612S NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 612 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAAGGCCAGCGAGCCGGGAC 0.692 NaN 0 0 0 0.004007 0 16 46 HTR4 3360 broad.mit.edu 37 5 147928298 147928298 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr5:147928298G>A uc003lpn.2 - 4 450 c.286C>T c.(286-288)CGG>TGG p.R96W HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_Missense_Mutation_p.R96W|HTR4_uc003lpj.1_Missense_Mutation_p.R96W|HTR4_uc003lpk.2_Missense_Mutation_p.R96W|HTR4_uc011dby.1_Missense_Mutation_p.R96W|HTR4_uc003lpl.2_Missense_Mutation_p.R96W|HTR4_uc003lpm.2_Missense_Mutation_p.R96W|HTR4_uc010jgv.2_RNA|HTR4_uc003lpo.1_Missense_Mutation_p.R96W NM_000870 NP_000861 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform b 96 Helical; Name=3; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) AGAGATGTCCGAACAAGACAA 0.502 NaN 0 0 0 0.009096 0 3 13 FAM50B 26240 broad.mit.edu 37 6 3850759 3850759 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:3850759C>T uc003mvu.2 + 2 826 c.714C>T c.(712-714)ATC>ATT p.I238I NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 238 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) TCATGTTCATCAAGGAGGACC 0.627 NaN 0 0 0 0.008871 0 18 35 PRPF4B 8899 broad.mit.edu 37 6 4049306 4049306 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:4049306C>G uc003mvv.2 + 8 2083 c.1992C>G c.(1990-1992)CTC>CTG p.L664L PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 664 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) ATCCCAACCTCAGAGATAACT 0.408 NaN 0 0 0 0.006214 0 10 39 DSP 1832 broad.mit.edu 37 6 7581110 7581110 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:7581110C>G uc003mxp.1 + 23 4966 c.4687C>G c.(4687-4689)CTG>GTG p.L1563V DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1563 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCAGAACTCTCTGAAAGAGCT 0.542 NaN 0 0 0 0.010818 0 32 51 HFE 3077 broad.mit.edu 37 6 26092939 26092939 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:26092939C>T uc003nfx.1 + 4 803 c.643C>T c.(643-645)CAT>TAT p.H215Y HFE_uc003nfy.1_Missense_Mutation_p.H192Y|HFE_uc010jqe.1_Intron|HFE_uc003nfz.1_Missense_Mutation_p.H127Y|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Intron|HFE_uc003ngb.1_Intron|HFE_uc003ngc.1_Missense_Mutation_p.H123Y|HFE_uc003nge.1_Missense_Mutation_p.H35Y|HFE_uc003ngf.1_Intron NM_000410 NP_000401 Q30201 HFE_HUMAN hemochromatosis protein isoform 1 precursor 215 Alpha-3.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding 0 GGTGACACATCATGTGACCTC 0.512 NaN Hemochromatosis 0 0 0 0.007413 0 16 99 HIST1H2BH 8345 broad.mit.edu 37 6 26252142 26252142 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:26252142G>C uc003nhh.2 + 1 264 c.264G>C c.(262-264)TCG>TCC p.S88S HIST1H3F_uc003nhg.1_5'Flank NM_003524 NP_003515 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 88 nucleosome assembly nucleosome|nucleus DNA binding ovary(3) 3 ACAAGCGTTCGACCATCACCT 0.597 NaN 0 0 0 0.001984 0 6 97 HIST1H4I 8294 broad.mit.edu 37 6 27107244 27107244 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:27107244G>C uc003niy.1 + 1 157 c.157G>C c.(157-159)GAG>CAG p.E53Q HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 53 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 CCTCATCTATGAGGAGACCCG 0.632 NaN T BCL6 NHL 0 0 0 0.001984 0 7 65 HLA-E 3133 broad.mit.edu 37 6 30457338 30457338 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:30457338C>G uc003nqg.2 + 1 68 c.30C>G c.(28-30)CTC>CTG p.L10L HLA-E_uc011dmg.1_RNA|HLA-E_uc011dmh.1_Missense_Mutation_p.S8C NM_005516 NP_005507 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 10 L -> S (in Ref. 1; AAA52655). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(4)|ovary(1) 5 TTTTACTCCTCTCGGAGGCCC 0.537 NaN 0 0 0 0.004289 0 35 77 BAT1 7919 broad.mit.edu 37 6 31498646 31498646 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:31498646C>T uc003ntt.2 - 10 1811 c.1180G>A c.(1180-1182)GAG>AAG p.E394K BAT1_uc003ntq.2_Missense_Mutation_p.E127K|BAT1_uc003ntr.2_Missense_Mutation_p.E201K|BAT1_uc003nts.2_Missense_Mutation_p.M401I|BAT1_uc011dnn.1_Missense_Mutation_p.E316K|BAT1_uc003ntu.2_Missense_Mutation_p.E394K|BAT1_uc003ntv.2_Missense_Mutation_p.E394K NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 394 Helicase C-terminal. intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 GCATCATTCTCATCGGACACA 0.512 NaN 0 0 0 0.001368 0 11 48 TNXB 7148 broad.mit.edu 37 6 32016366 32016366 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:32016366C>T uc003nzl.2 - 29 10015 c.9813G>A c.(9811-9813)GTG>GTA p.V3271V TNXB_uc003nzg.1_5'Flank|TNXB_uc003nzh.1_5'Flank NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 3318 Fibronectin type-III 25. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 AGTCCGAGGTCACGGCCGCCA 0.701 NaN 0 0 0 0.009096 0 4 22 HSD17B8 7923 broad.mit.edu 37 6 33173008 33173008 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:33173008C>G uc003odi.1 + 3 308 c.281C>G c.(280-282)TCT>TGT p.S94C uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank NM_014234 NP_055049 Q92506 DHB8_HUMAN estradiol 17 beta-dehydrogenase 8 94 estrogen biosynthetic process|fatty acid biosynthetic process mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity breast(1)|central_nervous_system(1) 2 NADH(DB00157) GCCTGCTTTTCTCGCCCACCA 0.547 NaN 0 0 0 0.000602 0 5 44 HSD17B8 7923 broad.mit.edu 37 6 33173950 33173950 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:33173950G>A uc003odi.1 + 7 718 c.691G>A c.(691-693)GAG>AAG p.E231K uc003odj.1_5'Flank|MIR219-1_hsa-mir-219-1|MI0000296_5'Flank|RING1_uc011dqw.1_5'Flank|RING1_uc011dqx.1_5'Flank|RING1_uc003odk.2_5'Flank NM_014234 NP_055049 Q92506 DHB8_HUMAN estradiol 17 beta-dehydrogenase 8 231 estrogen biosynthetic process|fatty acid biosynthetic process mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity breast(1)|central_nervous_system(1) 2 NADH(DB00157) GGGGGACCCTGAGGGTGAGCA 0.488 NaN 0 0 0 0.001984 0 6 39 RNF8 9025 broad.mit.edu 37 6 37328350 37328350 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:37328350G>T uc003onq.3 + 2 433 c.240G>T c.(238-240)AAG>AAT p.K80N RNF8_uc003onr.3_Missense_Mutation_p.K80N|RNF8_uc011dtx.1_5'UTR NM_003958 NP_003949 O76064 RNF8_HUMAN ring finger protein 8 isoform 1 80 FHA. cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 TGGACAACAAGGTACAGGAAT 0.323 NaN 1 0 2.68362e-12 0.001368 2.85756e-12 10 28 TSPO2 222642 broad.mit.edu 37 6 41011326 41011326 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:41011326G>C uc003opj.2 + 3 505 c.204G>C c.(202-204)CTG>CTC p.L68L UNC5CL_uc010jxe.1_Intron|TSPO2_uc003opk.2_Intron|TSPO2_uc011dub.1_Silent_p.L68L NM_001010873 NP_001010873 Q5TGU0 TSPO2_HUMAN benzodiazapine receptor (peripheral)-like 1 68 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity 0 GGAAGGACCTGGGAGGGGGCT 0.582 NaN 0 0 0 0.001368 0 11 86 FRS3 10817 broad.mit.edu 37 6 41739006 41739006 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:41739006G>C uc003orc.1 - 7 1074 c.830C>G c.(829-831)TCT>TGT p.S277C NM_006653 NP_006644 O43559 FRS3_HUMAN fibroblast growth factor receptor substrate 3 277 fibroblast growth factor receptor signaling pathway plasma membrane fibroblast growth factor receptor binding|insulin receptor binding ovary(2) 2 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGACACTCAGAAGGGGCCTC 0.647 NaN 0 0 0 0.001984 0 5 45 CUL7 9820 broad.mit.edu 37 6 43008354 43008354 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:43008354C>G uc003otq.2 - 21 4240 c.3937G>C c.(3937-3939)GAG>CAG p.E1313Q CUL7_uc010jyg.2_Missense_Mutation_p.E592Q|CUL7_uc011dvb.1_Missense_Mutation_p.E1397Q|CUL7_uc010jyh.2_Missense_Mutation_p.E306Q|KLC4_uc003otr.1_5'Flank NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 1313 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CGCTGCAGCTCCTTAGAGGTG 0.602 NaN 0 0 0 0.00632 0 27 129 MEP1A 4224 broad.mit.edu 37 6 46801038 46801038 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:46801038C>T uc010jzh.1 + 11 1414 c.1372C>T c.(1372-1374)CGA>TGA p.R458* MEP1A_uc011dwg.1_Nonsense_Mutation_p.R180*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.R486*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.R358* NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 458 MATH.|Extracellular (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) TCAGAGCCCTCGATTCTACAA 0.498 NaN 0 0 0 0.00278 0 23 46 CD2AP 23607 broad.mit.edu 37 6 47576971 47576971 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:47576971C>G uc003oyw.2 + 16 2201 c.1745C>G c.(1744-1746)TCC>TGC p.S582C NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 582 Potential. cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) AAAAAAAATTCCCTGGATGAA 0.393 NaN 0 0 0 0.00308 0 8 61 PKHD1 5314 broad.mit.edu 37 6 51524156 51524157 + Missense_Mutation DNP TC TC CA TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:51524156_51524157TC>CA uc003pah.1 - 61 11043_11044 c.10767_10768GA>TG c.(10765-10770)CAGATT>CATGTT p.3589_3590QI>HV NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3589_3590 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) TTTTGGCCAATCTGTAAGAAGT 0.436 NaN 0 0 0 0.004672 0 4 41 PAQR8 85315 broad.mit.edu 37 6 52268302 52268302 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:52268302C>T uc003pao.3 + 2 465 c.291C>T c.(289-291)GCC>GCT p.A97A NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member 97 Extracellular (Potential). cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding 0 Lung NSC(77;0.0875) GGGCCTTTGCCGAGGCTGAGG 0.577 NaN 0 0 0 0.001368 0 13 84 GSTA5 221357 broad.mit.edu 37 6 52701092 52701092 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:52701092G>T uc003pba.1 - 4 284 c.214C>A c.(214-216)CTT>ATT p.L72I NM_153699 NP_714543 Q7RTV2 GSTA5_HUMAN glutathione S-transferase alpha 5 72 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.0912) Glutathione(DB00143) ATGTAGTTAAGAATGGCTCTG 0.423 NaN 1 0 5.13769e-22 0.00361 5.49613e-22 51 174 GSTA4 2941 broad.mit.edu 37 6 52850346 52850346 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:52850346C>T uc003pbc.2 - 3 239 c.175G>A c.(175-177)GAA>AAA p.E59K GSTA4_uc003pbd.2_5'UTR|GSTA4_uc003pbe.2_Intron|GSTA4_uc003pbf.2_Missense_Mutation_p.E59K NM_001512 NP_001503 O15217 GSTA4_HUMAN glutathione S-transferase alpha 4 59 GST N-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity|protein homodimerization activity 0 Lung NSC(77;0.103) Glutathione(DB00143) CCGTCAATTTCAACCATGGGC 0.468 NaN 0 0 0 0.001855 0 13 62 SMAP1 60682 broad.mit.edu 37 6 71566608 71566608 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:71566608C>T uc003pfr.2 + 9 1084 c.836C>T c.(835-837)TCT>TTT p.S279F SMAP1_uc003pfs.2_Missense_Mutation_p.S252F|SMAP1_uc010kao.2_Missense_Mutation_p.S252F|SMAP1_uc010kap.2_Missense_Mutation_p.S269F NM_001044305 NP_001037770 Q8IYB5 SMAP1_HUMAN stromal membrane-associated GTPase-activating 279 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding 0 ACAGTAACATCTGGGGATCTA 0.428 NaN 0 0 0 0.001984 0 7 82 FAM46A 55603 broad.mit.edu 37 6 82459984 82459984 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:82459984C>T uc003pjg.2 - 3 1075 c.757G>A c.(757-759)GAG>AAG p.E253K FAM46A_uc003pjf.2_Missense_Mutation_p.E272K NM_017633 NP_060103 Q96IP4 FA46A_HUMAN hypothetical protein LOC55603 253 0 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) TGAAATGTCTCAGTCATTGGG 0.438 NaN 0 0 0 0.008871 0 16 70 NT5E 4907 broad.mit.edu 37 6 86181054 86181054 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:86181054C>T uc003pko.3 + 3 1218 c.662C>T c.(661-663)TCG>TTG p.S221L NT5E_uc003pkn.2_Missense_Mutation_p.S221L|NT5E_uc010kbr.2_Missense_Mutation_p.S221L NM_002526 NP_002517 P21589 5NTD_HUMAN 5' nucleotidase, ecto precursor 221 DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process anchored to membrane|cytoplasm|membrane fraction|plasma membrane 5'-nucleotidase activity|nucleotide binding ovary(3)|central_nervous_system(1) 4 all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427) BRCA - Breast invasive adenocarcinoma(108;0.0417) Pentoxifylline(DB00806) CTGGGACATTCGGGTTTTGAA 0.393 NaN 0 0 0 0.004482 0 8 37 ORC3L 23595 broad.mit.edu 37 6 88362934 88362934 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:88362934G>C uc003pmh.2 + 14 1527 c.1483G>C c.(1483-1485)GAG>CAG p.E495Q ORC3L_uc011dzl.1_Missense_Mutation_p.E495Q|ORC3L_uc011dzm.1_Missense_Mutation_p.E495Q|ORC3L_uc011dzn.1_RNA|ORC3L_uc003pmg.2_Missense_Mutation_p.E495Q|ORC3L_uc003pmi.2_Missense_Mutation_p.E457Q|ORC3L_uc011dzo.1_Missense_Mutation_p.E352Q|ORC3L_uc011dzp.1_Missense_Mutation_p.E352Q NM_012381 NP_036513 Q9UBD5 ORC3_HUMAN origin recognition complex, subunit 3 isoform 2 495 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding 0 all_cancers(76;9.05e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.0469) TAAGAGAATAGAGGAGTTCCT 0.403 NaN 0 0 0 0.001984 0 6 55 BACH2 60468 broad.mit.edu 37 6 90718326 90718326 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:90718326C>T uc011eab.1 - 6 1047 c.238G>A c.(238-240)GAG>AAG p.E80K BACH2_uc003pnw.2_Missense_Mutation_p.E80K|BACH2_uc010kch.2_Missense_Mutation_p.E80K NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 80 BTB. nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TGTACCTCCTCAGGCAAGCTG 0.473 NaN 0 0 0 0.001984 0 6 52 RTN4IP1 84816 broad.mit.edu 37 6 107035677 107035677 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:107035677G>C uc003prj.2 - 7 1344 c.867C>G c.(865-867)CTC>CTG p.L289L RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Silent_p.L189L NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 289 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) ACCATTTCTTGAGAAAATCTG 0.458 NaN 0 0 0 0.001984 0 7 194 MAP3K5 4217 broad.mit.edu 37 6 136977457 136977457 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:136977457C>G uc003qhc.2 - 10 2029 c.1668G>C c.(1666-1668)GTG>GTC p.V556V MAP3K5_uc011edj.1_5'UTR|MAP3K5_uc011edk.1_Silent_p.V401V|MAP3K5_uc010kgw.1_Silent_p.V556V NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 556 activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding ovary(2)|skin(2)|lung(1) 5 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569) GAAACCTAACCACAGTAACAT 0.408 NaN 0 0 0 0.006214 0 9 78 UTRN 7402 broad.mit.edu 37 6 144803392 144803392 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:144803392C>T uc003qkt.2 + 26 3647 c.3555C>T c.(3553-3555)CTC>CTT p.L1185L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1185 Spectrin 8. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TGAAGATTCTCAAGGACAACA 0.458 NaN 0 0 0 0.006214 0 9 37 RMND1 55005 broad.mit.edu 37 6 151742433 151742433 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:151742433C>T uc003qoi.2 - 9 1206 c.1026G>A c.(1024-1026)GTG>GTA p.V342V RMND1_uc011eeq.1_Silent_p.V131V NM_017909 NP_060379 Q9NWS8 RMND1_HUMAN required for meiotic nuclear division 1 homolog 342 0 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.146) OV - Ovarian serous cystadenocarcinoma(155;6.8e-11) GAGATAGTTTCACTTTCTTCC 0.328 NaN 0 0 0 0.004482 0 6 35 CNKSR3 154043 broad.mit.edu 37 6 154771348 154771348 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:154771348C>G uc003qpy.2 - 2 602 c.97G>C c.(97-99)GAG>CAG p.E33Q NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 33 SAM. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) TTGATCTTCTCTCGTTCAAAC 0.517 NaN 0 0 0 0.001368 0 11 37 QKI 9444 broad.mit.edu 37 6 163899843 163899843 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:163899843G>C uc003qui.2 + 3 868 c.317G>C c.(316-318)AGA>ACA p.R106T QKI_uc003que.2_Missense_Mutation_p.R106T|QKI_uc003quf.2_Missense_Mutation_p.R106T|QKI_uc003qug.2_Missense_Mutation_p.R106T|QKI_uc003quh.2_Missense_Mutation_p.R106T|QKI_uc003quj.2_Missense_Mutation_p.R106T NM_006775 NP_006766 Q96PU8 QKI_HUMAN quaking homolog, KH domain RNA binding isoform 106 KH. mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding large_intestine(1)|ovary(1) 2 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) CTTGGACCTAGAGGACTTACA 0.358 NaN 0 0 0 0.003163 0 14 68 FRMD1 79981 broad.mit.edu 37 6 168464360 168464360 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:168464360G>C uc003qwo.3 - 6 790 c.725C>G c.(724-726)CCC>CGC p.P242R FRMD1_uc003qwm.3_Missense_Mutation_p.P13R|FRMD1_uc011egs.1_Missense_Mutation_p.P13R|FRMD1_uc011egt.1_Missense_Mutation_p.P154R|FRMD1_uc003qwn.3_Missense_Mutation_p.P174R NM_024919 NP_079195 Q8N878 FRMD1_HUMAN FERM domain containing 1 isoform 1 242 FERM. cytoskeleton binding ovary(1) 1 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GGCCTCCTTGGGGCTCAGGCC 0.652 NaN 0 0 0 0.006214 0 8 24 SMOC2 64094 broad.mit.edu 37 6 169051384 169051384 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr6:169051384G>A uc003qws.1 + 10 951 c.931G>A c.(931-933)GAG>AAG p.E311K SMOC2_uc003qwr.1_Missense_Mutation_p.E322K|SMOC2_uc011egu.1_5'UTR NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 311 signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CAAAAAGCATGAGTTTCTGAC 0.512 NaN 0 0 0 0.001984 0 7 11 MIOS 54468 broad.mit.edu 37 7 7628157 7628157 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:7628157G>C uc003srf.2 + 8 2155 c.1847G>C c.(1846-1848)AGA>ACA p.R616T MIOS_uc003srg.2_Missense_Mutation_p.R151T|MIOS_uc010ktq.2_Missense_Mutation_p.E14Q NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 616 0 GTACGTGACAGAGTGGCATTT 0.343 NaN 0 0 0 0.006122 0 13 37 CACNA2D1 781 broad.mit.edu 37 7 82072745 82072745 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:82072745G>C uc003uhr.1 - 1 287 c.31C>G c.(31-33)CTG>GTG p.L11V NM_000722 NP_000713 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 11 voltage-gated calcium channel complex metal ion binding ovary(5)|pancreas(1) 6 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) AAAAGTGTCAGAGTCAAGGCC 0.537 NaN 0 0 0 0.009096 0 4 26 TAF6 6878 broad.mit.edu 37 7 99707583 99707583 + Missense_Mutation SNP C C G rs145206628 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:99707583C>G uc003uti.2 - 12 1353 c.1272G>C c.(1270-1272)CAG>CAC p.Q424H AP4M1_uc003utd.2_Intron|TAF6_uc003utg.2_Missense_Mutation_p.Q346H|TAF6_uc003uth.2_Missense_Mutation_p.Q481H|TAF6_uc003utk.2_Missense_Mutation_p.Q424H|TAF6_uc011kji.1_Missense_Mutation_p.Q461H|TAF6_uc003utj.2_Missense_Mutation_p.Q414H|TAF6_uc003utl.2_Missense_Mutation_p.Q424H|TAF6_uc003utm.2_Missense_Mutation_p.Q424H NM_139315 NP_647476 P49848 TAF6_HUMAN TBP-associated factor 6 isoform alpha 424 negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAGGAGGCTCTGCACATGGT 0.572 NaN 0 0 0 0.008291 0 10 72 PIK3CG 5294 broad.mit.edu 37 7 106509785 106509785 + Silent SNP T T C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:106509785T>C uc003vdv.3 + 2 1864 c.1779T>C c.(1777-1779)TTT>TTC p.F593F PIK3CG_uc003vdu.2_Silent_p.F593F|PIK3CG_uc003vdw.2_Silent_p.F593F NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 593 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CTAAGCTATTTAGTTCAGTGA 0.433 NaN 0 0 0 0.009535 0 27 68 FOXP2 93986 broad.mit.edu 37 7 114304340 114304340 + Nonsense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:114304340G>T uc003vhb.2 + 16 2226 c.1852G>T c.(1852-1854)GAG>TAG p.E618* FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Nonsense_Mutation_p.E643*|FOXP2_uc003vha.2_Nonsense_Mutation_p.E526*|FOXP2_uc011kmu.1_Nonsense_Mutation_p.E635*|FOXP2_uc011kmv.1_Nonsense_Mutation_p.E617*|FOXP2_uc010ljz.1_Nonsense_Mutation_p.E433* NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 618 camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TGCCTTGGCAGAGAGCAGTTT 0.388 NaN 1 0 0.000274275 0.004482 0.000281203 7 16 MET 4233 broad.mit.edu 37 7 116409824 116409824 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:116409824G>C uc003vij.2 + 12 2896 c.2709G>C c.(2707-2709)TTG>TTC p.L903F MET_uc010lkh.2_Missense_Mutation_p.L921F|MET_uc011knj.1_Missense_Mutation_p.L473F NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 903 Extracellular (Potential). axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TGCTGAAATTGAACAGCGAGC 0.373 NaN Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 0 0 0 0.000602 0 5 26 MET 4233 broad.mit.edu 37 7 116436028 116436028 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:116436028C>T uc003vij.2 + 21 4210 c.4023C>T c.(4021-4023)TTC>TTT p.F1341F MET_uc010lkh.2_Silent_p.F1359F|MET_uc011knj.1_Silent_p.F911F NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 1341 Protein kinase.|Interaction with MUC20.|Interaction with RANBP9.|Cytoplasmic (Potential). axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) CAGCGATCTTCTCTACTTTCA 0.443 NaN Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 0 0 0 0.00499 0 18 75 TTC26 79989 broad.mit.edu 37 7 138863036 138863036 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:138863036C>G uc003vus.2 + 13 1260 c.1146C>G c.(1144-1146)CTC>CTG p.L382L TTC26_uc011kqn.1_Silent_p.L382L|TTC26_uc011kqo.1_Silent_p.L351L|TTC26_uc011kqp.1_Silent_p.L277L|TTC26_uc003vut.2_Silent_p.L242L|TTC26_uc011kqq.1_Silent_p.L251L NM_024926 NP_079202 A0AVF1 TTC26_HUMAN tetratricopeptide repeat domain 26 isoform 1 382 binding ovary(1) 1 TGATTTACCTCAACTCATTTA 0.373 NaN 0 0 0 0.006214 0 10 55 CNTNAP2 26047 broad.mit.edu 37 7 147183114 147183114 + Missense_Mutation SNP T T G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:147183114T>G uc003weu.1 + 11 2274 c.1758T>G c.(1756-1758)AGT>AGG p.S586R NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 586 EGF-like 1.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGGATACAGTGGGGCCACCT 0.468 NaN HNSCC(39;0.1) 0 0 0 0.003163 0 6 49 MLL3 58508 broad.mit.edu 37 7 151927069 151927069 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:151927069C>T uc003wla.2 - 18 3134 c.2915G>A c.(2914-2916)GGA>GAA p.G972E MLL3_uc003wkz.2_Missense_Mutation_p.G33E NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 972 PHD-type 4. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AAGTAATCTTCCTTCTGCTCC 0.353 NaN N medulloblastoma 0 0 0 0.008871 0 10 165 PSD3 23362 broad.mit.edu 37 8 18622977 18622977 + Silent SNP G G A rs139539737 byFrequency TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:18622977G>A uc003wza.2 - 9 2257 c.2154C>T c.(2152-2154)TTC>TTT p.F718F PSD3_uc003wyy.2_Silent_p.F184F|PSD3_uc003wyz.2_Silent_p.F19F NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 719 SEC7. regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) GATCCTTGGAGAAATCAACAC 0.393 NaN 0 0 0 0.008871 0 17 83 EPB49 2039 broad.mit.edu 37 8 21926966 21926966 + Nonsense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:21926966C>T uc011kyt.1 + 6 560 c.331C>T c.(331-333)CAG>TAG p.Q111* EPB49_uc010ltl.2_Nonsense_Mutation_p.Q111*|EPB49_uc011kys.1_Nonsense_Mutation_p.Q71*|EPB49_uc010ltn.2_Nonsense_Mutation_p.Q86*|EPB49_uc011kyu.1_Nonsense_Mutation_p.Q111*|EPB49_uc011kyv.1_Nonsense_Mutation_p.Q111*|EPB49_uc010ltq.2_Nonsense_Mutation_p.Q111* NM_001114136 NP_001107608 Q08495 DEMA_HUMAN erythrocyte membrane protein band 4.9 isoform 1 111 actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1) 1 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) AATCATCTCTCAGGCCTCGGC 0.632 NaN 0 0 0 0.00245 0 14 22 CHMP7 91782 broad.mit.edu 37 8 23112846 23112846 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:23112846C>T uc003xdc.2 + 4 1206 c.558C>T c.(556-558)CTC>CTT p.L186L CHMP7_uc011kzs.1_RNA|CHMP7_uc003xdd.2_Silent_p.L76L|CHMP7_uc003xde.2_Silent_p.L44L NM_152272 NP_689485 Q8WUX9 CHMP7_HUMAN CHMP family, member 7 186 cellular membrane organization|late endosome to vacuole transport cytosol|ESCRT III complex protein transporter activity 0 Prostate(55;0.0513) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TCAGCACCCTCTGTGCTAACT 0.582 NaN 0 0 0 0.006122 0 18 21 CYP7A1 1581 broad.mit.edu 37 8 59409297 59409297 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:59409297G>C uc003xtm.3 - 3 837 c.774C>G c.(772-774)AGC>AGG p.S258R NM_000780 NP_000771 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, 258 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) ACATGCGCAGGCTGATCAGTT 0.517 NaN Neonatal_Giant_Cell_Hepatitis 0 0 0 0.001368 0 12 177 MTFR1 9650 broad.mit.edu 37 8 66619459 66619459 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:66619459G>A uc003xvm.2 + 6 944 c.732G>A c.(730-732)GAG>GAA p.E244E MTFR1_uc011lep.1_Silent_p.E244E|MTFR1_uc003xvn.2_Silent_p.E211E|MTFR1_uc003xvo.1_Silent_p.E234E NM_014637 NP_055452 Q15390 MTFR1_HUMAN mitochondrial fission regulator 1 isoform 1 244 mitochondrion|plasma membrane pancreas(1) 1 Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194) TCCTTAAAGAGATGAACAGTG 0.378 NaN 0 0 0 0.001168 0 6 83 CRISPLD1 83690 broad.mit.edu 37 8 75941732 75941732 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:75941732G>C uc003yan.2 + 14 1806 c.1431G>C c.(1429-1431)CAG>CAC p.Q477H CRISPLD1_uc011lfk.1_Missense_Mutation_p.Q289H|CRISPLD1_uc011lfl.1_Missense_Mutation_p.Q289H NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 477 LCCL 2. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) CTTCTTTTCAGAATGGAATCT 0.373 NaN 0 0 0 0.001168 0 4 30 PSKH2 85481 broad.mit.edu 37 8 87076269 87076269 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:87076269G>C uc011lfy.1 - 2 777 c.777C>G c.(775-777)TTC>TTG p.F259L NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN protein serine kinase H2 259 Protein kinase. ATP binding|protein serine/threonine kinase activity stomach(2)|lung(2)|ovary(1) 5 STAD - Stomach adenocarcinoma(118;0.129) CAAAAGGCAGGAATCCGCTAA 0.408 NaN 0 0 0 0.006214 0 10 58 ZFPM2 23414 broad.mit.edu 37 8 106814193 106814193 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:106814193C>G uc003ymd.2 + 8 1906 c.1883C>G c.(1882-1884)TCT>TGT p.S628C ZFPM2_uc011lhs.1_Missense_Mutation_p.S359C NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 628 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TGCATCAATTCTTCCACTGTC 0.448 NaN 0 0 0 0.006122 0 18 33 SYBU 55638 broad.mit.edu 37 8 110587905 110587905 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:110587905C>G uc003ynj.3 - 7 1385 c.1222G>C c.(1222-1224)GAC>CAC p.D408H SYBU_uc003yni.3_Missense_Mutation_p.D405H|SYBU_uc003ynk.3_Missense_Mutation_p.D289H|SYBU_uc010mco.2_Missense_Mutation_p.D407H|SYBU_uc003ynl.3_Missense_Mutation_p.D407H|SYBU_uc010mcp.2_Missense_Mutation_p.D408H|SYBU_uc010mcq.2_Missense_Mutation_p.D408H|SYBU_uc003yno.3_Missense_Mutation_p.D289H|SYBU_uc010mcr.2_Missense_Mutation_p.D408H|SYBU_uc003ynm.3_Missense_Mutation_p.D407H|SYBU_uc003ynn.3_Missense_Mutation_p.D407H|SYBU_uc010mcs.2_Missense_Mutation_p.D289H|SYBU_uc010mct.2_Missense_Mutation_p.D408H|SYBU_uc010mcu.2_Missense_Mutation_p.D407H|SYBU_uc003ynp.3_Missense_Mutation_p.D340H|SYBU_uc010mcv.2_Missense_Mutation_p.D408H|SYBU_uc003ynh.3_Missense_Mutation_p.D202H|SYBU_uc011lhw.1_Missense_Mutation_p.D278H NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 408 Sufficient for interaction with STX1A.|Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 GCCATTGTGTCAAGAGGGGGG 0.537 NaN 0 0 0 0.010729 0 9 77 EXT1 2131 broad.mit.edu 37 8 119122991 119122991 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:119122991G>A uc003yok.1 - 1 1068 c.295C>T c.(295-297)CGC>TGC p.R99C NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 99 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) GACTCCATGCGGCACTTCTTG 0.498 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 0 0 0 0.001855 0 13 71 TRIB1 10221 broad.mit.edu 37 8 126448548 126448548 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:126448548C>G uc003yrx.2 + 3 1536 c.954C>G c.(952-954)CTC>CTG p.L318L TRIB1_uc011lis.1_Silent_p.L152L|TRIB1_uc010mdn.2_Silent_p.L87L NM_025195 NP_079471 Q96RU8 TRIB1_HUMAN G-protein-coupled receptor induced protein 318 Protein kinase. JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide cytoplasm|nucleus ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity lung(1) 1 all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) TTCGCAGCCTCTTGAGACGGG 0.562 NaN 0 0 0 0.001984 0 7 94 MYC 4609 broad.mit.edu 37 8 128750661 128750661 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:128750661G>A uc003ysh.1 + 3 666 c.153G>A c.(151-153)AAG>AAA p.K51K MYC_uc003ysi.2_Silent_p.K66K NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 51 branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ATATCTGGAAGAAATTCGAGC 0.657 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 4 36 PTK2 5747 broad.mit.edu 37 8 141856744 141856744 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:141856744G>C uc003yvu.2 - 6 714 c.484C>G c.(484-486)CAA>GAA p.Q162E PTK2_uc003yvq.2_5'Flank|PTK2_uc003yvr.2_Missense_Mutation_p.Q61E|PTK2_uc003yvs.2_Missense_Mutation_p.Q162E|PTK2_uc003yvt.2_Missense_Mutation_p.Q184E|PTK2_uc003yvv.2_Missense_Mutation_p.Q49E|PTK2_uc011ljr.1_Missense_Mutation_p.Q162E NM_153831 NP_722560 Q05397 FAK1_HUMAN PTK2 protein tyrosine kinase 2 isoform a 162 FERM. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TGGTCCACTTGATCAGCTATC 0.299 NaN 0 0 0 0.009096 0 4 46 EPPK1 83481 broad.mit.edu 37 8 144943483 144943483 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr8:144943483C>G uc003zaa.1 - 1 3952 c.3939G>C c.(3937-3939)CTG>CTC p.L1313L NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1313 Plectin 22. cytoplasm|cytoskeleton protein binding|structural molecule activity pancreas(1)|skin(1) 2 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GCTGCTCACTCAGCTCCCTGC 0.652 NaN 0 0 0 0.003954 0 21 74 DOCK8 81704 broad.mit.edu 37 9 422095 422095 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:422095G>C uc003zgf.2 + 33 4313 c.4201G>C c.(4201-4203)GAG>CAG p.E1401Q DOCK8_uc010mgu.2_Missense_Mutation_p.E703Q|DOCK8_uc010mgv.2_Missense_Mutation_p.E1301Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E859Q NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1401 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ATGGAAGAAAGAGCAGACACA 0.413 NaN 0 0 0 0.009096 0 3 38 RPS6 6194 broad.mit.edu 37 9 19376351 19376351 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:19376351C>G uc003znv.1 - 6 732 c.690G>C c.(688-690)AAG>AAC p.K230N RPS6_uc003znu.1_Missense_Mutation_p.K199N NM_001010 NP_001001 P62753 RS6_HUMAN ribosomal protein S6 230 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding ovary(1) 1 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) GTCTGCGTCTCTTCGCAATTT 0.408 NaN 0 0 0 0.004656 0 23 53 ELAVL2 1993 broad.mit.edu 37 9 23731071 23731071 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:23731071C>G uc003zpu.2 - 3 557 c.282G>C c.(280-282)GAG>GAC p.E94D ELAVL2_uc003zps.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpt.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpv.2_Missense_Mutation_p.E94D|ELAVL2_uc003zpw.2_Missense_Mutation_p.E94D NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 94 RRM 1. regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TGATAGCTTTCTCTGCATCCT 0.358 NaN 0 0 0 0.001168 0 6 16 TOPORS 10210 broad.mit.edu 37 9 32543021 32543021 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:32543021G>A uc003zrb.2 - 3 1669 c.1502C>T c.(1501-1503)TCT>TTT p.S501F TOPORS_uc003zrc.2_Missense_Mutation_p.S434F NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 501 Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.|Interaction with TOP1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TAAGTCCTCAGAATCAGAGGA 0.403 NaN 0 0 0 0.009535 0 32 41 TOPORS 10210 broad.mit.edu 37 9 32544192 32544192 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:32544192C>G uc003zrb.2 - 3 498 c.331G>C c.(331-333)GAT>CAT p.D111H TOPORS_uc003zrc.2_Missense_Mutation_p.D44H NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 111 E3 ubiquitin-protein ligase activity.|Required for DNA-binding.|RING-type. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) GACACATTATCAAATCTATCC 0.413 NaN 0 0 0 0.003163 0 14 61 GRHPR 9380 broad.mit.edu 37 9 37429803 37429803 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:37429803G>C uc003zzu.1 + 6 609 c.568G>C c.(568-570)GAG>CAG p.E190Q GRHPR_uc010mlv.1_Missense_Mutation_p.E110Q|GRHPR_uc003zzt.1_Missense_Mutation_p.E110Q|GRHPR_uc003zzv.1_Missense_Mutation_p.E47Q|GRHPR_uc003zzw.1_Missense_Mutation_p.E47Q NM_012203 NP_036335 Q9UBQ7 GRHPR_HUMAN glyoxylate reductase/hydroxypyruvate reductase 190 cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process peroxisomal matrix glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding 0 GBM - Glioblastoma multiforme(29;0.00687) GCCCAGGCCTGAGGAAGCAGC 0.537 NaN 0 0 0 0.001984 0 5 22 TMEM2 23670 broad.mit.edu 37 9 74319522 74319522 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:74319522G>C uc011lsa.1 - 18 3723 c.3183C>G c.(3181-3183)GTC>GTG p.V1061V TMEM2_uc011lrz.1_Silent_p.V54V|TMEM2_uc010mos.2_Silent_p.V998V|TMEM2_uc011lsb.1_RNA NM_013390 NP_037522 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 isoform a 1061 integral to membrane ovary(2) 2 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) TGTTGAAGTTGACGAGGTATA 0.433 NaN 0 0 0 0.008361 0 27 38 ROR2 4920 broad.mit.edu 37 9 94486310 94486310 + Silent SNP G G A rs146432734 TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:94486310G>A uc004arj.1 - 9 2665 c.2466C>T c.(2464-2466)AAC>AAT p.N822N ROR2_uc004ari.1_Intron NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 822 Cytoplasmic (Potential).|Pro-rich. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GCTGGTAGCCGTTGACGGGGA 0.662 NaN 0 0 0 0.00361 0 38 32 SPTLC1 10558 broad.mit.edu 37 9 94809522 94809522 + Nonsense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:94809522G>T uc004arl.1 - 11 1051 c.1013C>A c.(1012-1014)TCA>TAA p.S338* SPTLC1_uc011ltv.1_Nonsense_Mutation_p.S338* NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 338 Cytoplasmic (Potential). integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups ovary(1)|breast(1) 2 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TAACGAAGCTGAAAAGCAGTA 0.438 NaN 1 0 4.68919e-08 0.008291 4.93976e-08 9 48 KIAA1529 57653 broad.mit.edu 37 9 100079488 100079488 + Nonsense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:100079488G>T uc011lut.1 + 21 2259 c.1486G>T c.(1486-1488)GAG>TAG p.E496* KIAA1529_uc004axe.1_Nonsense_Mutation_p.E496*|KIAA1529_uc004axg.1_Nonsense_Mutation_p.E357*|KIAA1529_uc011lus.1_Nonsense_Mutation_p.E314*|KIAA1529_uc010msm.1_RNA|KIAA1529_uc004axf.2_Nonsense_Mutation_p.E357*|KIAA1529_uc011luv.1_Nonsense_Mutation_p.E354* NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) TCTCAAGAAGGAGGCCCTGCT 0.632 NaN 1 0 0.00024832 0.009096 0.000254971 4 29 ZFP37 7539 broad.mit.edu 37 9 115805729 115805729 + Nonsense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:115805729G>C uc004bgm.1 - 4 1197 c.1169C>G c.(1168-1170)TCA>TGA p.S390* ZFP37_uc011lwz.1_Nonsense_Mutation_p.S405*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.S391* NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 390 C2H2-type 4. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 AATAAGGTTTGAGCTGTGTCT 0.413 NaN 0 0 0 0.004007 0 16 84 ASTN2 23245 broad.mit.edu 37 9 119770438 119770438 + Silent SNP T T G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:119770438T>G uc004bjs.1 - 7 1625 c.1524A>C c.(1522-1524)CCA>CCC p.P508P ASTN2_uc004bjr.1_Silent_p.P508P|ASTN2_uc004bjt.1_Silent_p.P457P NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 508 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CCCTCACCCATGGGGAGGTGG 0.577 NaN 0 0 0 0.004672 0 3 55 GARNL3 84253 broad.mit.edu 37 9 130111209 130111209 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:130111209G>A uc011mae.1 + 17 1839 c.1438G>A c.(1438-1440)GAG>AAG p.E480K GARNL3_uc011mad.1_Missense_Mutation_p.E458K NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 480 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 ACAGCCGTGGGAGCCCCAGTG 0.517 NaN 0 0 0 0.001168 0 5 27 SH2D3C 10044 broad.mit.edu 37 9 130536540 130536540 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:130536540G>A uc004bsc.2 - 2 386 c.244C>T c.(244-246)CGC>TGC p.R82C SH2D3C_uc004bsa.2_5'Flank|SH2D3C_uc004bsb.2_5'Flank|SH2D3C_uc004bsd.1_Missense_Mutation_p.R26C NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 82 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 ATGCTGGGGCGAGGCATGGTG 0.637 NaN 0 0 0 0.004007 0 16 29 NUP214 8021 broad.mit.edu 37 9 134003045 134003045 + Missense_Mutation SNP G G T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:134003045G>T uc004cag.2 + 2 291 c.180G>T c.(178-180)CAG>CAT p.Q60H NUP214_uc004cah.2_Missense_Mutation_p.Q60H|NUP214_uc004caf.1_Missense_Mutation_p.Q60H NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 60 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GTGGCTTGCAGATTTTTCCTA 0.448 NaN T DEK|SET|ABL1 AML|T-ALL 1 0 1.01871e-10 0.008871 1.08307e-10 19 83 NACC2 138151 broad.mit.edu 37 9 138903719 138903719 + Silent SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:138903719G>A uc004cgw.2 - 6 1563 c.1407C>T c.(1405-1407)GTC>GTT p.V469V NACC2_uc010nbh.2_Silent_p.V108V|uc004cgv.3_5'Flank NM_144653 NP_653254 Q96BF6 NACC2_HUMAN BTB (POZ) domain containing 14A 469 negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization nuclear body 0 CGGAGCCCATGACCGTGCGGT 0.711 NaN 0 0 0 0.000602 0 5 2 SEC16A 9919 broad.mit.edu 37 9 139371368 139371368 + Nonsense_Mutation SNP C C A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:139371368C>A uc004chx.2 - 3 1009 c.700G>T c.(700-702)GAA>TAA p.E234* SEC16A_uc004chv.3_5'Flank|SEC16A_uc004chw.2_Nonsense_Mutation_p.E234*|SEC16A_uc010nbn.2_Nonsense_Mutation_p.E234*|SEC16A_uc010nbo.1_Nonsense_Mutation_p.E234* NM_014866 NP_055681 O15027 SC16A_HUMAN SEC16 homolog A 56 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane 0 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACAGGTCCTTCAGGGCAGGGT 0.652 NaN 1 0 0.00136819 0.001368 0.0013986 11 28 ZMYND19 116225 broad.mit.edu 37 9 140477494 140477494 + Missense_Mutation SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr9:140477494C>T uc004cno.1 - 5 703 c.481G>A c.(481-483)GAG>AAG p.E161K NM_138462 NP_612471 Q96E35 ZMY19_HUMAN zinc finger, MYND domain containing 19 161 Poly-Glu. Golgi apparatus|plasma membrane zinc ion binding skin(1) 1 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CAAGAGTTCTCCTCCTCTTCC 0.527 NaN 0 0 0 0.005443 0 27 126 PIGA 5277 broad.mit.edu 37 X 15349792 15349792 + Silent SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:15349792G>C uc004cwr.2 - 2 361 c.261C>G c.(259-261)CTC>CTG p.L87L PIGA_uc004cwq.2_5'UTR|PIGA_uc010nev.2_Silent_p.L87L|PIGA_uc004cws.2_Intron|PIGA_uc011miq.1_Intron|PIGA_uc010new.1_Silent_p.L87L NM_002641 NP_002632 P37287 PIGA_HUMAN phosphatidylinositol 87 Cytoplasmic (Potential). C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding 0 Hepatocellular(33;0.183) AATAGACTTTGAGGCCACTGG 0.463 NaN 0 0 0 0.00361 0 41 42 BMX 660 broad.mit.edu 37 X 15548141 15548141 + Silent SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:15548141C>G uc004cww.2 + 10 1118 c.930C>G c.(928-930)CTC>CTG p.L310L BMX_uc004cwx.3_Silent_p.L310L|BMX_uc004cwy.3_Silent_p.L310L NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 310 SH2. cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity lung(3)|ovary(2) 5 Hepatocellular(33;0.183) AACAGTTACTCAGACAAAAGG 0.368 NaN 0 0 0 0.006214 0 9 16 KLHL34 257240 broad.mit.edu 37 X 21675005 21675005 + Missense_Mutation SNP G G A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:21675005G>A uc004czz.1 - 1 1444 c.902C>T c.(901-903)CCG>CTG p.P301L NM_153270 NP_695002 Q8N239 KLH34_HUMAN kelch-like 34 301 ovary(1) 1 TGCCCTCTGCGGGGCCGCGAC 0.557 NaN 0 0 0 0.001168 0 6 6 POLA1 5422 broad.mit.edu 37 X 24906201 24906201 + Missense_Mutation SNP C C G TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:24906201C>G uc004dbl.2 + 35 4131 c.4108C>G c.(4108-4110)CTT>GTT p.L1370V NM_016937 NP_058633 P09884 DPOLA_HUMAN DNA-directed DNA polymerase alpha 1 1370 Potential.|C4-type. cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding ovary(2)|skin(1) 3 Clofarabine(DB00631)|Fludarabine(DB01073) AACTGGGCCTCTTTGCCCAGC 0.493 NaN 0 0 0 0.001368 0 12 17 IL1RAPL1 11141 broad.mit.edu 37 X 29935671 29935671 + Missense_Mutation SNP T T C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:29935671T>C uc004dby.2 + 7 1377 c.869T>C c.(868-870)ATT>ACT p.I290T NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 290 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GAAAAATTTATTGAAGATCTG 0.363 NaN 0 0 0 0.012319 0 19 14 UBA1 7317 broad.mit.edu 37 X 47069375 47069375 + Silent SNP C C T TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:47069375C>T uc004dhj.3 + 18 2203 c.2052C>T c.(2050-2052)CCC>CCT p.P684P UBA1_uc004dhk.3_Silent_p.P684P|UBA1_uc004dhm.2_Silent_p.P132P NM_153280 NP_695012 P22314 UBA1_HUMAN ubiquitin-activating enzyme E1 684 cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity ovary(1) 1 GCACTCAGCCCTTGGAGGTGC 0.607 NaN 0 0 0 0.008291 0 10 64 PLP2 5355 broad.mit.edu 37 X 49030735 49030736 + Missense_Mutation DNP CC CC TT TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:49030735_49030736CC>TT uc004dmx.2 + 4 474_475 c.399_400CC>TT c.(397-402)TTCCCC>TTTTCC p.P134S NM_002668 NP_002659 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic 134 MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity 0 ATGTCACCTTCCCCGTTCGGCA 0.559 NaN 0 0 0 0.004672 0 17 15 OTUD6A 139562 broad.mit.edu 37 X 69282886 69282886 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:69282886G>C uc004dxu.1 + 1 546 c.512G>C c.(511-513)CGC>CCC p.R171P NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 171 OTU. lung(1)|skin(1) 2 GAGATGCTGCGCTGCCGCACC 0.617 NaN 0 0 0 0.001168 0 5 8 ATP7A 538 broad.mit.edu 37 X 77245376 77245376 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:77245376G>C uc004ecx.3 + 4 1418 c.1258G>C c.(1258-1260)GAG>CAG p.E420Q ATP7A_uc004ecw.2_Missense_Mutation_p.E420Q NM_000052 NP_000043 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 420 HMA 4.|Cytoplasmic (Potential). ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity 0 TGGGACTGTTGAGTATGATCC 0.403 NaN 0 0 0 0.001168 0 6 66 TBC1D8B 54885 broad.mit.edu 37 X 106083998 106083998 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chrX:106083998G>C uc004emo.2 + 10 1768 c.1603G>C c.(1603-1605)GAT>CAT p.D535H MORC4_uc004emp.3_Intron|TBC1D8B_uc004emn.2_Missense_Mutation_p.D535H NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN TBC1 domain family, member 8B (with GRAM domain) 535 Rab-GAP TBC. intracellular calcium ion binding|Rab GTPase activator activity ovary(2)|central_nervous_system(1)|skin(1) 4 AATTGAACGTGATTTACGTCG 0.463 NaN 0 0 0 0.001855 0 12 56 PABPC4 8761 broad.mit.edu 37 1 40038094 40038094 + Frame_Shift_Del DEL A A - TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:40038094delA uc010oiv.1 - 2 1256 c.358delT c.(358-360)TCTfs p.S120fs PABPC4_uc001cdl.2_Frame_Shift_Del_p.S120fs|PABPC4_uc001cdm.2_Frame_Shift_Del_p.S120fs NM_003819 NP_003810 Q13310 PABP4_HUMAN poly A binding protein, cytoplasmic 4 isoform 2 120 RRM 2. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding 0 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCAAAAGCAGAAAAAGTATCA 0.343 NaN NaN NaN NaN NaN NaN 12 516 --- --- TMCO2 127391 broad.mit.edu 37 1 40713708 40713709 + Frame_Shift_Del DEL TC TC - TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr1:40713708_40713709delTC uc001cfe.2 + 1 136_137 c.43_44delTC c.(43-45)TCTfs p.S15fs NM_001008740 NP_001008740 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 15 integral to membrane ovary(1) 1 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) CCTCTTAGAGTCTCTCTCTCTC 0.406 NaN NaN NaN NaN NaN NaN 11 1610 --- --- MLL 4297 broad.mit.edu 37 11 118373957 118373969 + Frame_Shift_Del DEL GGAACCTGGTCAG GGAACCTGGTCAG - TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 GGAACCTGGTCAG - GGAACCTGGTCAG GGAACCTGGTCAG Valid Somatic Phase_I WXS Fluidigm_realigned Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr11:118373957_118373969delGGAACCTGGTCAG uc001pta.2 + 27 7364_7376 c.7341_7353delGGAACCTGGTCAG c.(7339-7353)TTGGAACCTGGTCAGfs p.L2447fs MLL_uc001ptb.2_Frame_Shift_Del_p.L2450fs NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2447_2451 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AATCTTTTTTGGAACCTGGTCAGGTGACAACTG 0.404 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL NaN NaN NaN NaN NaN 14 53 --- --- TMBIM6 7009 broad.mit.edu 37 12 50156659 50156667 + In_Frame_Del DEL AAGAAGAAA AAGAAGAAA - TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr12:50156659_50156667delAAGAAGAAA uc001rux.2 + 10 826_834 c.694_702delAAGAAGAAA c.(694-702)AAGAAGAAAdel p.KKK232del TMBIM6_uc010sml.1_3'UTR|TMBIM6_uc001ruy.2_In_Frame_Del_p.KKK290del|TMBIM6_uc001ruz.2_In_Frame_Del_p.KKK232del NM_003217 NP_003208 P55061 BI1_HUMAN testis enhanced gene transcript (BAX inhibitor 232_234 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus 0 TTTCTAGGATAAGAAGAAAGAGAAGAAAT 0.397 NaN OREG0021802 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 8 178 --- --- GPR180 160897 broad.mit.edu 37 13 95273330 95273330 + Splice_Site DEL A A - TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr13:95273330delA uc001vly.2 + 6 815 c.737_splice c.e6-2 p.F246_splice GPR180_uc001vlz.2_Splice_Site_p.F145_splice|GPR180_uc010afi.2_Splice_Site_p.F7_splice NM_180989 NP_851320 Q86V85 GP180_HUMAN G protein-coupled receptor 180 precursor integral to membrane breast(1) 1 all_neural(89;0.0684)|Medulloblastoma(90;0.163) ATGTCCCATTAGTTTTTGACA 0.333 NaN NaN NaN NaN NaN NaN 42 54 --- --- SUPT16H 11198 broad.mit.edu 37 14 21828595 21828597 + In_Frame_Del DEL AAT AAT - TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr14:21828595_21828597delAAT uc001wao.2 - 18 2491_2493 c.2152_2154delATT c.(2152-2154)ATTdel p.I718del SUPT16H_uc001wan.2_5'Flank NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 718 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) AGTGCAAGACAATAATCATTTCT 0.271 NaN NaN NaN NaN NaN NaN 17 98 --- --- WDR60 55112 broad.mit.edu 37 7 158704352 158704353 + Frame_Shift_Ins INS - - A TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1d3c0ff9-d149-4d21-8955-5fb849fc5462 a1378c67-a8c5-4591-9564-22bc71cbe0b8 g.chr7:158704352_158704353insA uc003woe.3 + 12 1730_1731 c.1572_1573insA c.(1570-1575)GGGAAAfs p.G524fs WDR60_uc010lqv.2_RNA|WDR60_uc010lqw.2_Frame_Shift_Ins_p.G156fs NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 524_525 p.G524R(1) ovary(2)|breast(1)|central_nervous_system(1) 4 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GAAACTTTGGGAAAAAAAATAC 0.332 NaN NaN NaN NaN NaN NaN 16 93 --- ---