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 1268136 1268136 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:1268136C>T uc010nyk.1 + 3 1225 c.1225C>T c.(1225-1227)CAG>TAG p.Q409* NM_152228 NP_689414 Q7RTX0 TS1R3_HUMAN taste receptor, type 1, member 3 precursor 409 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) CAACACTCTTCAGTGCAACGC 0.637 NaN 0 0 0 0.006122 0 15 51 C1orf86 199990 broad.mit.edu 37 1 2125221 2125221 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:2125221C>T uc001aiy.2 - 3 353 c.327G>A c.(325-327)GGG>GGA p.G109G C1orf86_uc001aiv.1_RNA|C1orf86_uc001aiw.1_RNA|C1orf86_uc001aix.1_Missense_Mutation_p.G105D NM_182533 NP_872339 Q6NZ36 CA086_HUMAN hypothetical protein LOC199990 isoform 2 109 0 all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) ATTCCAGGTGCCCTCCTGCCC 0.701 NaN 0 0 0 0.003163 0 16 28 MMEL1 79258 broad.mit.edu 37 1 2526322 2526322 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:2526322G>A uc001ajy.2 - 17 1809 c.1595C>T c.(1594-1596)TCA>TTA p.S532L MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 532 Potential.|Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CAGGTCCTCTGAGAAGTTCAG 0.607 NaN 0 0 0 0.00361 0 47 41 PER3 8863 broad.mit.edu 37 1 7902801 7902801 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:7902801G>C uc001aoo.2 + 21 3767 c.3592G>C c.(3592-3594)GAA>CAA p.E1198Q PER3_uc001aop.2_Missense_Mutation_p.E1207Q|PER3_uc010nzw.1_Missense_Mutation_p.E887Q NM_016831 NP_058515 P56645 PER3_HUMAN period 3 1198 CRY binding domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity ovary(1)|pancreas(1)|skin(1) 3 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GGTTCTGGTAGAAGACAGCTG 0.453 NaN 0 0 0 0.00278 0 20 55 DFFA 1676 broad.mit.edu 37 1 10529339 10529339 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:10529339C>G uc001arj.2 - 2 291 c.193G>C c.(193-195)GAG>CAG p.E65Q DFFA_uc001ark.2_Missense_Mutation_p.E65Q NM_004401 NP_004392 O00273 DFFA_HUMAN DNA fragmentation factor, 45kDa, alpha 65 CIDE-N. DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis cytosol|mitochondrion|nucleoplasm|plasma membrane deoxyribonuclease activity|identical protein binding 0 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487) GTGCCATCCTCTGCCAGGACC 0.428 NaN 0 0 0 0.007291 0 26 61 EXOSC10 5394 broad.mit.edu 37 1 11132177 11132177 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:11132177C>A uc001asa.2 - 20 2259 c.2209G>T c.(2209-2211)GAA>TAA p.E737* EXOSC10_uc001asb.2_Nonsense_Mutation_p.E712* NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 737 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TTGACAGCTTCTTTAGAGTCT 0.453 NaN 1 0 5.78141e-17 0.013114 6.17496e-17 34 70 PLOD1 5351 broad.mit.edu 37 1 12020784 12020784 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:12020784G>A uc001atm.2 + 10 1148 c.1057G>A c.(1057-1059)GAG>AAG p.E353K PLOD1_uc010obb.1_Missense_Mutation_p.E400K NM_000302 NP_000293 Q02809 PLOD1_HUMAN lysyl hydroxylase 1 precursor 353 epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity ovary(2)|breast(1) 3 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126) GGTGGGCCCTGAGGTGCGGAT 0.627 NaN 0 0 0 0.00361 0 58 39 ATP13A2 23400 broad.mit.edu 37 1 17323611 17323611 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:17323611C>T uc001baa.2 - 12 1289 c.1099G>A c.(1099-1101)GAG>AAG p.E367K ATP13A2_uc001bab.2_Missense_Mutation_p.E362K|ATP13A2_uc001bac.2_Missense_Mutation_p.E362K|ATP13A2_uc009vpa.1_Missense_Mutation_p.E80K|ATP13A2_uc001bad.1_Missense_Mutation_p.E80K NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 367 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CGGTGTGTCTCTGCACAGTAG 0.652 NaN 0 0 0 0.00361 0 130 68 UBR4 23352 broad.mit.edu 37 1 19497282 19497282 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:19497282G>C uc001bbi.2 - 26 3621 c.3617C>G c.(3616-3618)TCT>TGT p.S1206C UBR4_uc001bbm.1_Missense_Mutation_p.S417C NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1206 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GCACCTGCTAGAGCCAATAGC 0.428 NaN 0 0 0 0.00361 0 71 37 MYOM3 127294 broad.mit.edu 37 1 24387794 24387794 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:24387794C>T uc001bin.3 - 34 4103 c.3940G>A c.(3940-3942)GAG>AAG p.E1314K MYOM3_uc001bil.3_Missense_Mutation_p.E207K|MYOM3_uc001bim.3_Missense_Mutation_p.E971K NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1314 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) ATTGCATCCTCAAAAGCTATA 0.502 NaN 0 0 0 0.001368 0 10 27 RHD 6007 broad.mit.edu 37 1 25599110 25599110 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:25599110C>T uc001bjz.2 + 1 130 c.72C>T c.(70-72)CTC>CTT p.L24L RHD_uc010oep.1_Silent_p.L24L|RHD_uc001bkc.2_Silent_p.L24L|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Silent_p.L24L|RHD_uc001bkb.2_Silent_p.L24L|RHD_uc009vrn.2_Silent_p.L24L|RHD_uc009vro.2_Silent_p.L24L|RHD_uc009vrp.2_Silent_p.L24L NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 24 Helical; (Potential). integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) AAGCAGCTCTCATTCTCCTCT 0.532 NaN 0 0 0 0.010729 0 9 45 SF3A3 10946 broad.mit.edu 37 1 38450421 38450421 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:38450421C>T uc001cci.2 - 5 458 c.334G>A c.(334-336)GAA>AAA p.E112K SF3A3_uc010oik.1_Missense_Mutation_p.E59K NM_006802 NP_006793 Q12874 SF3A3_HUMAN splicing factor 3a, subunit 3 112 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nuclear speck nucleic acid binding|protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) TTCAGGAGTTCCTCAAATTCC 0.353 NaN 0 0 0 0.013114 0 35 86 MACF1 23499 broad.mit.edu 37 1 39782127 39782127 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:39782127G>C uc010ois.1 + 29 3734 c.3529G>C c.(3529-3531)GAG>CAG p.E1177Q MACF1_uc001cda.1_Missense_Mutation_p.E1085Q|MACF1_uc001cdc.1_Missense_Mutation_p.E264Q|MACF1_uc009vvq.1_Missense_Mutation_p.E234Q|MACF1_uc001cdb.1_Missense_Mutation_p.E264Q NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 1177 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) CAAAGGTTATGAGATTAAGCT 0.433 NaN 0 0 0 0.00361 0 82 50 EBNA1BP2 10969 broad.mit.edu 37 1 43637293 43637293 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:43637293G>A uc001cin.2 - 3 377 c.180C>T c.(178-180)TTC>TTT p.F60F EBNA1BP2_uc001cio.2_Silent_p.F115F|WDR65_uc010ojz.1_5'Flank|WDR65_uc001cip.1_5'Flank|WDR65_uc001ciq.1_5'Flank|EBNA1BP2_uc001cim.2_5'UTR|EBNA1BP2_uc010ojx.1_Silent_p.F115F|EBNA1BP2_uc010ojy.1_RNA NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 60 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATCCCGCTTGAATTCTGCCA 0.522 NaN 0 0 0 0.00361 0 146 109 BEND5 79656 broad.mit.edu 37 1 49208411 49208411 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:49208411C>T uc001crx.3 - 4 822 c.778G>A c.(778-780)GAA>AAA p.E260K AGBL4_uc001cru.2_Intron|AGBL4_uc010omw.1_Intron|AGBL4_uc010omx.1_Intron|AGBL4_uc001crv.1_Intron|AGBL4_uc010omy.1_Intron|BEND5_uc001crw.3_Missense_Mutation_p.E91K NM_024603 NP_078879 Q7L4P6 BEND5_HUMAN BEN domain containing 5 260 skin(1) 1 TCGAGACATTCTGACTTTACT 0.443 NaN 0 0 0 0.000602 0 3 76 EPS15 2060 broad.mit.edu 37 1 51913720 51913720 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:51913720T>A uc001csq.1 - 9 741 c.649A>T c.(649-651)ACG>TCG p.T217S EPS15_uc009vyz.1_Missense_Mutation_p.T217S NM_001981 NP_001972 P42566 EPS15_HUMAN epidermal growth factor receptor pathway 217 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding lung(1)|kidney(1) 2 ATACTGACCGTTTTTCTCTTA 0.463 NaN T MLL ALL 0 0 0 0.002299 0 19 59 GADD45A 1647 broad.mit.edu 37 1 68152235 68152235 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:68152235G>A uc001ddz.1 + 3 644 c.349G>A c.(349-351)GAG>AAG p.E117K GADD45A_uc009wbb.1_Missense_Mutation_p.E83K|GADD45A_uc009wbc.1_Intron|GADD45A_uc009wbd.1_Intron NM_001924 NP_001915 P24522 GA45A_HUMAN growth arrest and DNA-damage-inducible, alpha 117 apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage nucleus protein binding ovary(1) 1 CGAGGGCGCCGAGCAGCCCCC 0.706 NaN 0 0 0 0.00632 0 19 9 CTH 1491 broad.mit.edu 37 1 70897772 70897772 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:70897772G>T uc001dfd.2 + 8 875 c.731G>T c.(730-732)GGA>GTA p.G244V CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.G200V|CTH_uc010oqq.1_Missense_Mutation_p.G212V NM_001902 NP_001893 P32929 CGL_HUMAN cystathionase isoform 1 244 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding lung(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GCAGCTCTTGGAGCAGTTCCA 0.438 NaN 1 0 1.02788e-11 0.00499 1.07691e-11 14 35 C1orf173 127254 broad.mit.edu 37 1 75037069 75037069 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:75037069G>C uc001dgg.2 - 14 4544 c.4325C>G c.(4324-4326)TCA>TGA p.S1442* NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1442 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TCCTAGCCCTGAGGTCTTCCG 0.612 NaN 0 0 0 0.00361 0 58 159 MAGI3 260425 broad.mit.edu 37 1 114128143 114128143 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:114128143G>A uc001edk.2 + 4 869 c.688G>A c.(688-690)GAA>AAA p.E230K MAGI3_uc001edh.3_Missense_Mutation_p.E230K|MAGI3_uc001edi.3_Missense_Mutation_p.E230K|MAGI3_uc010owm.1_Missense_Mutation_p.E230K NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN membrane-associated guanylate kinase-related 3 230 Guanylate kinase-like. apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding lung(3)|ovary(2)|central_nervous_system(1) 6 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGCAAGATGGAAAGAATGGA 0.418 NaN 0 0 0 0.006122 0 17 34 DENND2C 163259 broad.mit.edu 37 1 115147614 115147614 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:115147614C>T uc001efd.1 - 11 2298 c.1596G>A c.(1594-1596)GAG>GAA p.E532E DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Silent_p.E475E NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 532 UDENN. skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTTAAGTCTCTCTTCCATGT 0.343 NaN 0 0 0 0.001368 0 12 12 DENND2C 163259 broad.mit.edu 37 1 115147649 115147649 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:115147649C>T uc001efd.1 - 11 2263 c.1561G>A c.(1561-1563)GAT>AAT p.D521N DENND2C_uc001eez.2_RNA|DENND2C_uc001efc.1_Missense_Mutation_p.D464N NM_198459 NP_940861 Q68D51 DEN2C_HUMAN DENN/MADD domain containing 2C 521 UDENN. skin(3) 3 all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TAGCCATGATCATCCTGAAAA 0.363 NaN 0 0 0 0.001168 0 6 8 SPAG17 200162 broad.mit.edu 37 1 118624183 118624183 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:118624183T>C uc001ehk.2 - 14 1913 c.1845A>G c.(1843-1845)AAA>AAG p.K615K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 615 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TCAGTTTCCCTTTTTCATCAA 0.448 NaN 0 0 0 0.009096 0 3 87 SPAG17 200162 broad.mit.edu 37 1 118640379 118640379 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:118640379C>T uc001ehk.2 - 7 993 c.925G>A c.(925-927)GAA>AAA p.E309K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 309 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) AGATTTGTTTCAGGTTTCTCA 0.373 NaN 0 0 0 0.001855 0 13 31 NBPF9 400818 broad.mit.edu 37 1 144828683 144828683 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144828683C>G uc009wig.1 + 23 2804 c.2728C>G c.(2728-2730)CAG>GAG p.Q910E NBPF9_uc010oxn.1_Missense_Mutation_p.Q808E|NBPF9_uc010oxo.1_Missense_Mutation_p.Q835E|NBPF9_uc010oxr.1_Missense_Mutation_p.Q937E|NBPF9_uc010oxt.1_Missense_Mutation_p.Q725E|NBPF9_uc001ekg.1_Missense_Mutation_p.Q237E|NBPF9_uc001ekk.1_Missense_Mutation_p.Q481E|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Q237E|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Q570E|uc001elr.3_5'Flank NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 910 NBPF 7. cytoplasm 0 ATTTGAGGAACAGCACATCAG 0.438 NaN 0 0 0 0.003954 0 7 235 NBPF9 400818 broad.mit.edu 37 1 144828688 144828688 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144828688C>T uc009wig.1 + 23 2809 c.2733C>T c.(2731-2733)CAC>CAT p.H911H NBPF9_uc010oxn.1_Silent_p.H809H|NBPF9_uc010oxo.1_Silent_p.H836H|NBPF9_uc010oxr.1_Silent_p.H938H|NBPF9_uc010oxt.1_Silent_p.H726H|NBPF9_uc001ekg.1_Silent_p.H238H|NBPF9_uc001ekk.1_Silent_p.H482H|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Silent_p.H238H|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Silent_p.H571H|uc001elr.3_5'Flank NM_001037675 NP_001032764 Q3BBV1 NBPFK_HUMAN hypothetical protein LOC400818 911 NBPF 7. cytoplasm 0 AGGAACAGCACATCAGCTTCG 0.433 NaN 0 0 0 0.005443 0 8 228 PDE4DIP 9659 broad.mit.edu 37 1 144857625 144857625 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144857625G>A uc001elw.3 - 39 6720 c.6429C>T c.(6427-6429)ATC>ATT p.I2143I NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.I2037I|PDE4DIP_uc001elv.3_Silent_p.I1150I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2143 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TTGCTCTGTTGATTATGGGCG 0.468 NaN T PDGFRB MPD 0 0 0 0.013114 0 35 289 PDE4DIP 9659 broad.mit.edu 37 1 144871718 144871718 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144871718C>A uc001elw.3 - 32 5535 c.5244G>T c.(5242-5244)ATG>ATT p.M1748I NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.M755I NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1748 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GCTTCTGCAGCATCTGTAGCT 0.582 NaN T PDGFRB MPD 1 0 0.00229938 0.002299 0.00233481 10 184 PDE4DIP 9659 broad.mit.edu 37 1 144882662 144882662 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:144882662G>C uc001elw.3 - 24 3648 c.3357C>G c.(3355-3357)CTC>CTG p.L1119L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Silent_p.L126L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1119 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GTTGTTCTTTGAGGAGGTTGA 0.453 NaN T PDGFRB MPD 0 0 0 0.005443 0 24 186 GABPB2 126626 broad.mit.edu 37 1 151065682 151065682 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:151065682G>T uc001ewr.2 + 4 622 c.291G>T c.(289-291)GTG>GTT p.V97V GABPB2_uc010pcp.1_Silent_p.V113V|GABPB2_uc001ews.2_Silent_p.V57V|GABPB2_uc001ewt.2_5'UTR NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN GA repeat binding protein, beta 2 97 ANK 3. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding 0 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GTGCAGATGTGAATGCCAAGG 0.443 NaN 1 0 2.51308e-46 0.00361 2.75103e-46 90 168 ZNF687 57592 broad.mit.edu 37 1 151258795 151258795 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:151258795G>C uc001exq.2 + 2 126 c.28G>C c.(28-30)GAT>CAT p.D10H ZNF687_uc001exp.1_Missense_Mutation_p.D19H|ZNF687_uc009wmo.2_Missense_Mutation_p.D10H|ZNF687_uc009wmp.2_Missense_Mutation_p.D10H NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN zinc finger protein 687 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding central_nervous_system(3)|ovary(1) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCCTGATTTTGATGACCTCCT 0.517 NaN 0 0 0 0.00361 0 216 139 HRNR 388697 broad.mit.edu 37 1 152191810 152191810 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:152191810G>A uc001ezt.1 - 3 2371 c.2295C>T c.(2293-2295)CAC>CAT p.H765H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 765 8. 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) CTTGTCGGCCGTGGCCCGAAG 0.592 NaN 0 0 0 0.003271 0 32 167 HRNR 388697 broad.mit.edu 37 1 152193146 152193146 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:152193146G>C uc001ezt.1 - 3 1035 c.959C>G c.(958-960)TCC>TGC p.S320C NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 320 3. 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) GCCGTGGCTGGAGGAGTGCCC 0.607 NaN 0 0 0 0.007291 0 27 119 HRNR 388697 broad.mit.edu 37 1 152193539 152193539 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:152193539G>T uc001ezt.1 - 3 642 c.566C>A c.(565-567)TCT>TAT p.S189Y NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 189 2. 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) GCGGCCTGAAGACTGATGGGA 0.537 NaN 1 0 2.32416e-17 0.002299 2.49044e-17 5 75 CLK2 1196 broad.mit.edu 37 1 155234440 155234440 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155234440G>A uc001fjy.2 - 9 1349 c.1059C>T c.(1057-1059)ATC>ATT p.I353I RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjs.2_5'Flank|SCAMP3_uc001fju.2_5'Flank|SCAMP3_uc001fjv.2_5'Flank|SCAMP3_uc001fjt.2_5'Flank|CLK2_uc001fjw.2_Silent_p.I352I|CLK2_uc001fjx.2_Silent_p.I125I|CLK2_uc009wqm.2_Silent_p.I353I NM_003993 NP_003984 P49760 CLK2_HUMAN CDC-like kinase 2 353 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CCTTACCAAGGATGACTTCTG 0.552 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.00361 0 37 156 YY1AP1 55249 broad.mit.edu 37 1 155630385 155630385 + Nonsense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155630385G>T uc001fln.2 - 11 1478 c.1454C>A c.(1453-1455)TCA>TAA p.S485* YY1AP1_uc001flg.2_Nonsense_Mutation_p.S224*|YY1AP1_uc010pgg.1_Nonsense_Mutation_p.S324*|YY1AP1_uc010pgh.1_Nonsense_Mutation_p.S428*|YY1AP1_uc010pgi.1_Nonsense_Mutation_p.S577*|YY1AP1_uc001flh.2_Nonsense_Mutation_p.S557*|YY1AP1_uc009wqt.2_Nonsense_Mutation_p.S408*|YY1AP1_uc001flk.2_Nonsense_Mutation_p.S428*|YY1AP1_uc001fll.2_Nonsense_Mutation_p.S439*|YY1AP1_uc009wqv.2_Nonsense_Mutation_p.S156*|YY1AP1_uc001flm.2_Nonsense_Mutation_p.S428*|YY1AP1_uc001fli.2_Nonsense_Mutation_p.S439*|YY1AP1_uc009wqu.2_Nonsense_Mutation_p.S272*|YY1AP1_uc001flj.2_Nonsense_Mutation_p.S419*|YY1AP1_uc009wqw.2_Nonsense_Mutation_p.S408*|YY1AP1_uc001flo.2_Nonsense_Mutation_p.S373*|YY1AP1_uc001flp.2_Nonsense_Mutation_p.S439*|YY1AP1_uc010pgj.1_3'UTR NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 485 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGGGGCTTCTGAATGAGTTGA 0.552 NaN 1 0 3.52435e-65 0.00361 3.89036e-65 114 69 KIAA0907 22889 broad.mit.edu 37 1 155891202 155891202 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155891202C>T uc001fmi.1 - 10 1254 c.1230G>A c.(1228-1230)CCG>CCA p.P410P KIAA0907_uc001fmj.1_Silent_p.P410P|KIAA0907_uc009wrk.1_Silent_p.P267P|KIAA0907_uc009wrl.1_RNA|SNORA42_uc001fmk.1_5'Flank|KIAA0907_uc001fml.1_Missense_Mutation_p.D377N NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 410 Pro-rich. 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CTTGTGTTATCGGGTATTGTG 0.493 NaN 0 0 0 0.005443 0 23 100 KIAA0907 22889 broad.mit.edu 37 1 155903521 155903521 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:155903521G>A uc001fmi.1 - 2 182 c.158C>T c.(157-159)TCA>TTA p.S53L KIAA0907_uc001fmj.1_Missense_Mutation_p.S53L|KIAA0907_uc009wrk.1_Missense_Mutation_p.S53L|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.S53L|KIAA0907_uc001fmm.2_Missense_Mutation_p.S53L|KIAA0907_uc001fmo.2_Missense_Mutation_p.S53L NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 53 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) CAAGGCTCCTGAAGGAGCAGC 0.592 NaN 0 0 0 0.006214 0 10 22 SMG5 23381 broad.mit.edu 37 1 156230257 156230257 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156230257G>C uc001foc.3 - 15 2417 c.2268C>G c.(2266-2268)CTC>CTG p.L756L SMG5_uc009wrv.2_Silent_p.L241L NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 756 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) CTAAGGTGCTGAGCAGGGGCC 0.562 NaN 0 0 0 0.00361 0 49 161 SMG5 23381 broad.mit.edu 37 1 156247764 156247764 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156247764C>G uc001foc.3 - 3 398 c.249G>C c.(247-249)TGG>TGC p.W83C NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 83 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) ATACCTTTCTCCACAGCAGCT 0.493 NaN 0 0 0 0.009535 0 29 143 SMG5 23381 broad.mit.edu 37 1 156247778 156247778 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156247778C>T uc001foc.3 - 3 384 c.235G>A c.(235-237)GAG>AAG p.E79K NM_015327 NP_056142 Q9UPR3 SMG5_HUMAN SMG5 homolog nonsense mediated mRNA decay 79 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding ovary(2)|skin(2)|pancreas(1) 5 Hepatocellular(266;0.158) AGCAGCTCCTCAGCCTTTCTC 0.502 NaN 0 0 0 0.007291 0 28 118 CCT3 7203 broad.mit.edu 37 1 156279057 156279057 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156279057G>A uc001fol.1 - 14 1791 c.1571C>T c.(1570-1572)TCA>TTA p.S524L CCT3_uc001fom.1_Missense_Mutation_p.S523L|CCT3_uc001fon.1_Missense_Mutation_p.S486L|CCT3_uc010phj.1_Missense_Mutation_p.S478L|CCT3_uc010phk.1_Missense_Mutation_p.S478L|CCT3_uc010phl.1_Missense_Mutation_p.S478L NM_005998 NP_005989 P49368 TCPG_HUMAN chaperonin containing TCP1, subunit 3 isoform a 524 'de novo' posttranslational protein folding cytoskeleton|cytosol|plasma membrane ATP binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(266;0.158) TTTGTGGCCTGAAACGATGTC 0.512 NaN 0 0 0 0.00623 0 37 183 C1orf66 51093 broad.mit.edu 37 1 156698908 156698908 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:156698908C>T uc001fpu.2 + 1 646 c.12C>T c.(10-12)ATC>ATT p.I4I ISG20L2_uc001fps.1_5'Flank|ISG20L2_uc001fpt.1_5'Flank|C1orf66_uc001fpv.2_Silent_p.I4I NM_015997 NP_057081 Q96FB5 RRNAD_HUMAN hypothetical protein LOC51093 isoform 1 4 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TGCCGGGCATCTCCGCCCGAG 0.642 NaN 0 0 0 0.008291 0 10 36 OR10X1 128367 broad.mit.edu 37 1 158549345 158549345 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:158549345T>A uc010pin.1 - 1 345 c.345A>T c.(343-345)TTA>TTT p.L115F NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 115 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGCACATCTGTAAGCTACAAC 0.478 NaN 0 0 0 0.005443 0 23 129 OR6N2 81442 broad.mit.edu 37 1 158747168 158747168 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:158747168G>A uc010pir.1 - 1 258 c.258C>T c.(256-258)CTC>CTT p.L86L NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) TCTTCTCACTGAGAATATTAG 0.453 NaN 0 0 0 0.006214 0 9 232 IFI16 3428 broad.mit.edu 37 1 158985757 158985757 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:158985757G>C uc001ftf.1 + 4 968 c.361G>C c.(361-363)GAG>CAG p.E121Q IFI16_uc001ftg.2_Missense_Mutation_p.E121Q|IFI16_uc010pis.1_Missense_Mutation_p.E121Q NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 121 Lys-rich. cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TGAAGGAGCAGAGGCAACTCC 0.522 NaN 0 0 0 0.004878 0 33 84 CADM3 57863 broad.mit.edu 37 1 159161793 159161793 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:159161793G>A uc001ftl.2 + 2 298 c.156G>A c.(154-156)GTG>GTA p.V52V CADM3_uc009wsx.1_Silent_p.V86V|CADM3_uc009wsy.1_Silent_p.V52V|CADM3_uc001ftk.2_Silent_p.V86V NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 52 Ig-like V-type.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) AGTGCCAAGTGAAAGATCACG 0.512 NaN 0 0 0 0.00361 0 91 57 CADM3 57863 broad.mit.edu 37 1 159161862 159161862 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:159161862G>A uc001ftl.2 + 2 367 c.225G>A c.(223-225)AAG>AAA p.K75K CADM3_uc009wsx.1_Silent_p.K109K|CADM3_uc009wsy.1_Silent_p.K75K|CADM3_uc001ftk.2_Silent_p.K109K NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 75 Ig-like V-type.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) TTGGGGAGAAGAGAGGTAGTA 0.527 NaN 0 0 0 0.00361 0 55 36 COPA 1314 broad.mit.edu 37 1 160267134 160267134 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:160267134C>G uc009wti.2 - 21 2656 c.2262G>C c.(2260-2262)CAG>CAC p.Q754H COPA_uc001fvv.3_Missense_Mutation_p.Q763H NM_004371 NP_004362 P53621 COPA_HUMAN coatomer protein complex, subunit alpha isoform 754 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) GATACTTACTCTGTCCACAGT 0.453 NaN 0 0 0 0.00361 0 39 338 USP21 27005 broad.mit.edu 37 1 161130796 161130796 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:161130796G>A uc010pke.1 + 3 743 c.366G>A c.(364-366)ATG>ATA p.M122I USP21_uc010pkc.1_Missense_Mutation_p.M122I|USP21_uc010pkd.1_Missense_Mutation_p.M122I|USP21_uc010pkf.1_Missense_Mutation_p.M122I NM_001014443 NP_001014443 Q9UK80 UBP21_HUMAN ubiquitin-specific protease 21 122 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process nucleus metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(2)|lung(1)|prostate(1)|breast(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TGCGTCCAATGGGGATTGCCT 0.632 NaN 0 0 0 0.00632 0 24 209 ATF6 22926 broad.mit.edu 37 1 161789498 161789498 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:161789498G>C uc001gbr.2 + 8 1052 c.985G>C c.(985-987)GAA>CAA p.E329Q ATF6_uc001gbq.1_Missense_Mutation_p.E329Q NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 329 Cytoplasmic (Potential). positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GAAGAAGAAAGAATATATGCT 0.413 NaN 0 0 0 0.001984 0 7 93 DUSP27 92235 broad.mit.edu 37 1 167096654 167096654 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:167096654C>A uc001geb.1 + 5 2286 c.2286C>A c.(2284-2286)TGC>TGA p.C762* NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 762 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CGGCTAGCTGCCTGGGGGATG 0.562 NaN 1 0 6.13486e-44 0.00361 6.7046e-44 102 33 SCYL3 57147 broad.mit.edu 37 1 169847945 169847945 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:169847945G>A uc001ggs.2 - 3 379 c.181C>T c.(181-183)CGT>TGT p.R61C SCYL3_uc001ggt.2_Missense_Mutation_p.R61C|SCYL3_uc001ggu.2_RNA NM_181093 NP_851607 Q8IZE3 PACE1_HUMAN SCY1-like 3 isoform 2 61 Protein kinase. cell migration Golgi apparatus|lamellipodium ATP binding|protein binding|protein kinase activity ovary(1)|skin(1) 2 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CAAGGGTGACGAAGTGTCTTC 0.408 NaN 0 0 0 0.00361 0 113 41 FMO2 2327 broad.mit.edu 37 1 171174608 171174608 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171174608G>T uc001ghk.1 + 7 1135 c.1018G>T c.(1018-1020)GAT>TAT p.D340Y FMO2_uc010pmd.1_Missense_Mutation_p.D120Y NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 340 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTTCCTTGAAGATTCACTCGT 0.418 NaN 1 0 0.000673444 0.008291 0.000686996 10 27 FMO4 2329 broad.mit.edu 37 1 171292305 171292305 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171292305G>C uc001gho.2 + 4 512 c.295G>C c.(295-297)GAC>CAC p.D99H NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 99 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGAGCACTTTGACCTCCTGAA 0.373 NaN 0 0 0 0.00874 0 32 44 FMO4 2329 broad.mit.edu 37 1 171293307 171293307 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171293307G>C uc001gho.2 + 5 569 c.352G>C c.(352-354)GAC>CAC p.D118H NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 118 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) GAAGCGTCCAGACTTCTCCGA 0.463 NaN 0 0 0 0.00361 0 123 247 FMO4 2329 broad.mit.edu 37 1 171293376 171293376 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:171293376G>C uc001gho.2 + 5 638 c.421G>C c.(421-423)GAT>CAT p.D141H NM_002022 NP_002013 P31512 FMO4_HUMAN flavin containing monooxygenase 4 141 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding kidney(2)|skin(1) 3 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) AGCTGTCTTTGATGCTGTTAT 0.478 NaN 0 0 0 0.00361 0 260 469 TNN 63923 broad.mit.edu 37 1 175087808 175087808 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:175087808C>G uc001gkl.1 + 11 2611 c.2498C>G c.(2497-2499)TCT>TGT p.S833C NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 833 Fibronectin type-III 7. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CACTACACGTCTGCCAACGGA 0.612 NaN 0 0 0 0.00361 0 125 42 MR1 3140 broad.mit.edu 37 1 181019244 181019244 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:181019244G>C uc001goq.1 + 3 431 c.426G>C c.(424-426)CTG>CTC p.L142L MR1_uc001gop.2_Silent_p.L142L|MR1_uc001gor.1_Intron|MR1_uc001gos.1_Silent_p.L142L|MR1_uc010pns.1_Silent_p.L142L NM_001531 NP_001522 Q95460 HMR1_HUMAN major histocompatibility complex, class 142 Extracellular (Potential).|Ligand-binding.|Alpha-2. antigen processing and presentation of peptide antigen via MHC class I|immune response endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex MHC class I receptor activity skin(1) 1 AGGATTTCCTGATCTTCAATA 0.498 NaN 0 0 0 0.009718 0 39 47 UCHL5 51377 broad.mit.edu 37 1 193028361 193028361 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:193028361G>A uc001gsm.2 - 1 161 c.30C>T c.(28-30)CTC>CTT p.L10L UCHL5_uc001gsn.2_RNA|UCHL5_uc001gso.2_Silent_p.L10L|UCHL5_uc010pov.1_RNA|UCHL5_uc001gsp.2_Silent_p.L10L|UCHL5_uc001gsq.2_Silent_p.L10L|UCHL5_uc010pow.1_Intron|UCHL5_uc010pox.1_5'UTR|UCHL5_uc001gsr.1_3'UTR|TROVE2_uc001gst.1_5'Flank|TROVE2_uc001gss.2_5'Flank|TROVE2_uc001gsu.1_5'Flank|TROVE2_uc001gsv.1_5'Flank|TROVE2_uc001gsw.2_5'Flank|TROVE2_uc009wyp.2_5'Flank|TROVE2_uc009wyq.2_5'Flank NM_015984 NP_057068 Q9Y5K5 UCHL5_HUMAN ubiquitin carboxyl-terminal hydrolase L5 10 DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytosol|Ino80 complex|proteasome complex endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|ovary(1) 3 CGCTTTCCATGAGGCACCACT 0.677 NaN 0 0 0 0.004007 0 13 41 CRB1 23418 broad.mit.edu 37 1 197398672 197398672 + Nonsense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:197398672G>T uc001gtz.2 + 8 2905 c.2770G>T c.(2770-2772)GAG>TAG p.E924* CRB1_uc010poz.1_Nonsense_Mutation_p.E900*|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Nonsense_Mutation_p.E812*|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Nonsense_Mutation_p.E405*|CRB1_uc001gub.1_Nonsense_Mutation_p.E573* NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 924 Extracellular (Potential).|EGF-like 14. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGCCTGTGAGGAGGTTCAGTG 0.547 NaN 1 0 8.16721e-17 0.010818 8.70905e-17 28 62 ZNF281 23528 broad.mit.edu 37 1 200376276 200376276 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:200376276G>C uc001gve.2 - 2 2665 c.2558C>G c.(2557-2559)TCT>TGT p.S853C ZNF281_uc001gvf.1_Missense_Mutation_p.S853C|ZNF281_uc001gvg.1_Missense_Mutation_p.S817C NM_012482 NP_036614 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 853 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|breast(1) 2 TTCTCCATTAGAGTTAGTGAT 0.418 NaN 0 0 0 0.00333 0 24 48 ADIPOR1 51094 broad.mit.edu 37 1 202917512 202917512 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:202917512C>T uc001gyq.3 - 3 445 c.178G>A c.(178-180)GAA>AAA p.E60K ADIPOR1_uc010pqd.1_5'UTR|ADIPOR1_uc001gyr.3_5'UTR|ADIPOR1_uc001gys.3_Missense_Mutation_p.E60K NM_015999 NP_057083 Q96A54 ADR1_HUMAN adiponectin receptor 1 60 Cytoplasmic (Potential). fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity 0 BRCA - Breast invasive adenocarcinoma(75;0.141) TCCTCCTCTTCTTCCTGGGGC 0.507 NaN 0 0 0 0.001368 0 11 48 USH2A 7399 broad.mit.edu 37 1 216465553 216465553 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:216465553C>G uc001hku.1 - 10 2191 c.1804G>C c.(1804-1806)GGA>CGA p.G602R USH2A_uc001hkv.2_Missense_Mutation_p.G602R NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 602 Laminin EGF-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CAAACTCCTCCTCCCCCTCTG 0.423 NaN HNSCC(13;0.011) 0 0 0 0.011902 0 35 173 ESRRG 2104 broad.mit.edu 37 1 216850701 216850701 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:216850701G>A uc001hkw.1 - 2 355 c.189C>T c.(187-189)GAC>GAT p.D63D ESRRG_uc001hky.1_Silent_p.D40D|ESRRG_uc009xdp.1_Silent_p.D40D|ESRRG_uc001hkz.1_Silent_p.D40D|ESRRG_uc010puc.1_Silent_p.D40D|ESRRG_uc001hla.1_Silent_p.D40D|ESRRG_uc001hlb.1_Silent_p.D40D|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Silent_p.D40D|ESRRG_uc001hld.1_Silent_p.D40D|ESRRG_uc001hkx.1_Silent_p.D68D|ESRRG_uc009xdo.1_Silent_p.D40D|ESRRG_uc001hle.1_Silent_p.D40D NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 63 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCCCACTGGCGTCTGAAGAGC 0.572 NaN 0 0 0 0.007835 0 39 77 SLC30A10 55532 broad.mit.edu 37 1 220089088 220089088 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:220089088C>A uc001hlw.2 - 4 1372 c.1161G>T c.(1159-1161)TTG>TTT p.L387F SLC30A10_uc001hlu.1_Intron|SLC30A10_uc001hlv.2_Missense_Mutation_p.L142F|SLC30A10_uc001hlx.2_Missense_Mutation_p.L162F NM_018713 NP_061183 Q6XR72 ZNT10_HUMAN solute carrier family 30 (zinc transporter), 387 Cytoplasmic (Potential). zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity 0 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) GGGGTTCCTTCAAGTCCACAT 0.517 NaN 1 0 2.79863e-10 0.004656 2.90899e-10 25 130 C1orf65 164127 broad.mit.edu 37 1 223566977 223566977 + Missense_Mutation SNP G G A rs143800669 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:223566977G>A uc001hoa.2 + 1 263 c.160G>A c.(160-162)GAA>AAA p.E54K NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 54 p.E54K(1) central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) TGCGGAGAGCGAAGCTGGGGC 0.736 NaN 0 0 0 0.00361 0 45 15 GALNT2 2590 broad.mit.edu 37 1 230415081 230415081 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:230415081G>C uc010pwa.1 + 16 1665 c.1593G>C c.(1591-1593)CTG>CTC p.L531L GALNT2_uc010pvy.1_Silent_p.L493L|GALNT2_uc001htu.2_Silent_p.L143L NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 531 Lumenal (Potential).|Ricin B-type lectin. immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) ACTCCAAGCTGAGGCACGTGG 0.582 NaN 0 0 0 0.012319 0 18 60 ARID4B 51742 broad.mit.edu 37 1 235383127 235383127 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:235383127C>A uc001hwq.2 - 16 2062 c.1564G>T c.(1564-1566)GAA>TAA p.E522* ARID4B_uc001hwr.2_Nonsense_Mutation_p.E522*|ARID4B_uc001hws.3_Nonsense_Mutation_p.E522*|ARID4B_uc001hwt.3_Nonsense_Mutation_p.E203* NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 522 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) GCTTTTTCTTCCTCAGCTTCT 0.338 NaN 1 0 3.5997e-14 0.002299 3.80161e-14 17 58 ARID4B 51742 broad.mit.edu 37 1 235383646 235383646 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:235383646C>T uc001hwq.2 - 15 1876 c.1378G>A c.(1378-1380)GAA>AAA p.E460K ARID4B_uc001hwr.2_Missense_Mutation_p.E460K|ARID4B_uc001hws.3_Missense_Mutation_p.E460K|ARID4B_uc001hwt.3_Missense_Mutation_p.E141K NM_016374 NP_057458 Q4LE39 ARI4B_HUMAN AT rich interactive domain 4B isoform 1 460 Glu-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding ovary(2)|lung(1) 3 Ovarian(103;0.0473)|Breast(184;0.23) all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24) OV - Ovarian serous cystadenocarcinoma(106;2.86e-05) TCTTTTCTTTCAATTTCATCC 0.308 NaN 0 0 0 0.004482 0 8 31 TBCE 6905 broad.mit.edu 37 1 235611710 235611710 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:235611710C>G uc001hwz.1 + 16 1569 c.1446C>G c.(1444-1446)CTC>CTG p.L482L TBCE_uc001hxa.1_Silent_p.L482L|TBCE_uc010pxr.1_Silent_p.L533L|TBCE_uc001hxb.1_Silent_p.L369L|B3GALNT2_uc001hxc.2_3'UTR NM_003193 NP_003184 Q15813 TBCE_HUMAN beta-tubulin cofactor E 482 'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway cytoplasm|microtubule|nucleus|plasma membrane chaperone binding 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238) OV - Ovarian serous cystadenocarcinoma(106;2.56e-05) CACGTCTTCTCAAAGTTCCTG 0.403 NaN 0 0 0 0.004289 0 28 117 FH 2271 broad.mit.edu 37 1 241663770 241663770 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:241663770G>C uc001hyx.2 - 9 1389 c.1357C>G c.(1357-1359)CTA>GTA p.L453V NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 453 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) ACCAACATTAGAGACTCATTC 0.388 NaN Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 0 0 0 0.00361 0 134 70 OR1C1 26188 broad.mit.edu 37 1 247920818 247920818 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:247920818C>T uc010pza.1 - 1 891 c.891G>A c.(889-891)ATG>ATA p.M297I NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 297 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) GTCCCCTCTTCATATCCCTGT 0.428 NaN 0 0 0 0.00361 0 61 46 PFKP 5214 broad.mit.edu 37 10 3155563 3155563 + Splice_Site SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:3155563G>A uc001igp.2 + 13 1261 c.1225_splice c.e13-1 p.T409_splice PFKP_uc001igq.2_Splice_Site_p.T401_splice|PFKP_uc009xhr.2_Splice_Site_p.T371_splice|PFKP_uc009xhs.1_Splice_Site_p.T193_splice|PFKP_uc009xht.2_Splice_Site_p.T147_splice|PFKP_uc009xhu.2_5'Flank NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) CTGTTTTGCAGACCAATTGCA 0.607 NaN 0 0 0 0.001984 0 6 35 FAM171A1 221061 broad.mit.edu 37 10 15326105 15326105 + Splice_Site SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:15326105C>G uc001iob.2 - 2 105 c.98_splice c.e2-1 p.E33_splice NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor integral to membrane ovary(2)|breast(1)|skin(1) 4 AACGTCACCTCTGGAGGTAGA 0.527 NaN 0 0 0 0.003163 0 15 65 YME1L1 10730 broad.mit.edu 37 10 27437904 27437904 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:27437904G>A uc001iti.2 - 2 281 c.99C>T c.(97-99)CTC>CTT p.L33L YME1L1_uc001itj.2_Silent_p.L33L|YME1L1_uc010qdl.1_Silent_p.L33L|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Silent_p.L33L NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 33 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 ACACTCCACTGAGAGAAACAG 0.408 NaN 0 0 0 0.00361 0 49 199 YME1L1 10730 broad.mit.edu 37 10 27437951 27437951 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:27437951G>A uc001iti.2 - 2 234 c.52C>T c.(52-54)CAT>TAT p.H18Y YME1L1_uc001itj.2_Missense_Mutation_p.H18Y|YME1L1_uc010qdl.1_Missense_Mutation_p.H18Y|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Missense_Mutation_p.H18Y NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 18 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 TTGATGAGATGACTCAGAGGA 0.343 NaN 0 0 0 0.00361 0 33 157 YME1L1 10730 broad.mit.edu 37 10 27437957 27437957 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:27437957G>A uc001iti.2 - 2 228 c.46C>T c.(46-48)CTG>TTG p.L16L YME1L1_uc001itj.2_Silent_p.L16L|YME1L1_uc010qdl.1_Silent_p.L16L|YME1L1_uc009xkv.2_RNA|YME1L1_uc001itk.1_Silent_p.L16L NM_139312 NP_647473 Q96TA2 YMEL1_HUMAN YME1-like 1 isoform 1 16 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity ovary(1) 1 AGATGACTCAGAGGAACTGTA 0.338 NaN 0 0 0 0.006999 0 28 139 WAC 51322 broad.mit.edu 37 10 28897142 28897142 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:28897142C>G uc001iuf.2 + 8 1032 c.947C>G c.(946-948)TCA>TGA p.S316* WAC_uc001iud.2_Nonsense_Mutation_p.S271*|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Nonsense_Mutation_p.S271*|WAC_uc001iug.2_Nonsense_Mutation_p.S213*|WAC_uc001iuh.2_Nonsense_Mutation_p.S271* NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 316 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 AAACCCGTATCACATTCTTGC 0.433 NaN 0 0 0 0.00361 0 66 107 PARD3 56288 broad.mit.edu 37 10 34805961 34805961 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:34805961G>A uc010qej.1 - 3 349 c.349C>T c.(349-351)CAG>TAG p.Q117* PARD3_uc010qek.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qel.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qem.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qen.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qeo.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qep.1_Nonsense_Mutation_p.Q117*|PARD3_uc010qeq.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixp.1_5'UTR|PARD3_uc001ixq.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixr.1_Nonsense_Mutation_p.Q117*|PARD3_uc001ixt.1_5'UTR|PARD3_uc001ixu.1_Nonsense_Mutation_p.Q117* NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 117 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) TGGTAAGGCTGAAAGGCTGAG 0.473 NaN 0 0 0 0.00361 0 46 78 PCDH15 65217 broad.mit.edu 37 10 55569091 55569091 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:55569091G>A uc010qhs.1 - 37 5129 c.4734C>T c.(4732-4734)CGC>CGT p.R1578R PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.R1571R|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) CTTCCTCAAGGCGTCTCTGCC 0.428 NaN HNSCC(58;0.16) 0 0 0 0.010729 0 9 31 DDX21 9188 broad.mit.edu 37 10 70733307 70733307 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:70733307G>C uc001jov.1 + 10 1645 c.1555G>C c.(1555-1557)GAG>CAG p.E519Q DDX21_uc001jow.1_Missense_Mutation_p.E451Q NM_004728 NP_004719 Q9NR30 DDX21_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 519 Helicase C-terminal. nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1) 3 ATAGGATGTAGAGTCCTACAT 0.443 NaN 0 0 0 0.010771 0 35 22 HKDC1 80201 broad.mit.edu 37 10 70992797 70992797 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:70992797G>T uc001jpf.3 + 4 536 c.403G>T c.(403-405)GCA>TCA p.A135S HKDC1_uc010qje.1_5'UTR NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 135 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 TGACTGTCTGGCAGATTTCAT 0.468 NaN 1 0 7.93312e-07 0.00245 8.15589e-07 14 48 COX15 1355 broad.mit.edu 37 10 101480768 101480768 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:101480768G>C uc001kqb.3 - 6 1425 c.808C>G c.(808-810)CTG>GTG p.L270V COX15_uc001kqc.3_Missense_Mutation_p.L270V|COX15_uc010qpj.1_Missense_Mutation_p.L91V NM_078470 NP_510870 Q7KZN9 COX15_HUMAN COX15 homolog isoform 1 270 Helical; (Potential). heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) AGGAACACCAGACCTGCTGTT 0.463 NaN 0 0 0 0.006214 0 7 13 ABCC2 1244 broad.mit.edu 37 10 101567904 101567904 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:101567904A>C uc001kqf.2 + 13 1872 c.1733A>C c.(1732-1734)AAG>ACG p.K578T NM_000392 NP_000383 Q92887 MRP2_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), 578 ABC transmembrane type-1 1.|Extracellular (By similarity). apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GATGCACAAAAGGCCTTCACC 0.463 NaN 0 0 0 0.008871 0 20 107 PNLIPRP1 5407 broad.mit.edu 37 10 118365052 118365052 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:118365052G>C uc001lco.1 + 12 1345 c.1327G>C c.(1327-1329)GAA>CAA p.E443Q PNLIPRP1_uc001lcp.2_Missense_Mutation_p.E443Q NM_006229 NP_006220 P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 precursor 443 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity ovary(1)|breast(1) 2 all cancers(201;0.0161) GCAAAAGGGAGAAGAGAAGAC 0.403 NaN 0 0 0 0.00361 0 38 44 SLC18A2 6571 broad.mit.edu 37 10 119014792 119014792 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:119014792C>A uc001ldd.1 + 7 736 c.705C>A c.(703-705)GGC>GGA p.G235G SLC18A2_uc009xyy.1_Silent_p.G32G NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 235 Helical; (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) CTGCAGTGGGCCCCCCCTTCG 0.572 NaN 1 0 6.33695e-27 0.007835 6.8685e-27 33 66 C10orf137 26098 broad.mit.edu 37 10 127413965 127413965 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:127413965G>C uc001liq.1 + 5 882 c.589G>C c.(589-591)GAG>CAG p.E197Q C10orf137_uc001lin.2_Missense_Mutation_p.E197Q|C10orf137_uc001lio.1_Missense_Mutation_p.E197Q|C10orf137_uc001lip.1_5'UTR NM_015608 NP_056423 Q3B7T1 EDRF1_HUMAN erythroid differentiation-related factor 1 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding ovary(5)|large_intestine(3)|lung(2) 10 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAAGAGCAAAGAGCACTGGTA 0.348 NaN 0 0 0 0.008291 0 8 21 PTPRE 5791 broad.mit.edu 37 10 129877885 129877885 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:129877885G>T uc001lkb.2 + 20 2233 c.1954G>T c.(1954-1956)GCC>TCC p.A652S PTPRE_uc009yat.2_Missense_Mutation_p.A663S|PTPRE_uc009yau.2_Missense_Mutation_p.A652S|PTPRE_uc001lkd.2_Missense_Mutation_p.A594S|PTPRE_uc010quq.1_Intron NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 652 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) GCGAGTAAAAGCCGAGGGACT 0.458 NaN 1 0 0.004672 0.004672 0.00472216 3 40 KNDC1 85442 broad.mit.edu 37 10 135038330 135038330 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:135038330C>G uc001llz.1 + 30 5187 c.5186C>G c.(5185-5187)TCC>TGC p.S1729C NM_152643 NP_689856 Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) 1729 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CACCAGGTCTCCAGCGAGAAG 0.577 NaN 0 0 0 0.011902 0 36 10 MUC5B 727897 broad.mit.edu 37 11 1272679 1272679 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:1272679G>A uc009ycr.1 + 52 15661 c.15535G>A c.(15535-15537)GTG>ATG p.V5179M MUC5B_uc001ltb.2_Missense_Mutation_p.V4860M NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 4857 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TATAGCCACCGTGATGGTGCC 0.632 NaN 0 0 0 0.004289 0 32 138 OR52I1 390037 broad.mit.edu 37 11 4616239 4616239 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:4616239C>G uc010qyi.1 + 1 971 c.971C>G c.(970-972)TCA>TGA p.S324* NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 324 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AACCTGGGTTCATGAACACAA 0.433 NaN 0 0 0 0.00632 0 24 89 PIK3C2A 5286 broad.mit.edu 37 11 17172072 17172072 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:17172072G>A uc001mmq.3 - 3 1366 c.1300C>T c.(1300-1302)CAG>TAG p.Q434* PIK3C2A_uc009ygu.1_5'UTR|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.Q54*|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Nonsense_Mutation_p.Q434*|PIK3C2A_uc009ygv.1_Nonsense_Mutation_p.Q434* NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 434 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) ACTGGTAGCTGAAATCCTTCA 0.403 NaN 0 0 0 0.008361 0 25 102 CCDC73 493860 broad.mit.edu 37 11 32705116 32705116 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:32705116G>C uc001mtv.2 - 7 439 c.395C>G c.(394-396)TCT>TGT p.S132C CCDC73_uc001mtw.1_Missense_Mutation_p.S132C|CCDC73_uc009yjt.2_Missense_Mutation_p.S132C NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 132 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) AGAGTATTTAGAAACCTTGAA 0.328 NaN 0 0 0 0.004878 0 29 7 AMBRA1 55626 broad.mit.edu 37 11 46529801 46529801 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:46529801G>C uc010rgu.1 - 9 2639 c.2279C>G c.(2278-2280)TCT>TGT p.S760C AMBRA1_uc010rgt.1_Missense_Mutation_p.S326C|AMBRA1_uc009ylc.1_Missense_Mutation_p.S731C|AMBRA1_uc001ncu.1_Missense_Mutation_p.S670C|AMBRA1_uc001ncv.2_Missense_Mutation_p.S763C|AMBRA1_uc001ncw.2_Missense_Mutation_p.S641C|AMBRA1_uc001ncx.2_Intron NM_017749 NP_060219 Q9C0C7 AMRA1_HUMAN activating molecule in beclin-1-regulated 760 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) GTCTGAGGAAGAGGAGGAGGT 0.517 NaN 0 0 0 0.008361 0 24 67 OR4A5 81318 broad.mit.edu 37 11 51412330 51412330 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:51412330T>C uc001nhi.1 - 1 66 c.66A>G c.(64-66)CAA>CAG p.Q22Q NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 22 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) ATAATGCTTTTTGCACACCAG 0.428 NaN 0 0 0 0.001368 0 10 35 OR4D11 219986 broad.mit.edu 37 11 59271357 59271357 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:59271357C>T uc001noa.1 + 1 309 c.309C>T c.(307-309)CTC>CTT p.L103L NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 103 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AGATATTTCTCTTCCACCTCC 0.468 NaN 0 0 0 0.00361 0 109 59 STX3 6809 broad.mit.edu 37 11 59560641 59560641 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:59560641C>T uc001nog.2 + 7 726 c.536C>T c.(535-537)TCT>TTT p.S179F STX3_uc010rkx.1_Missense_Mutation_p.S179F|STX3_uc010rky.1_Missense_Mutation_p.S82F|STX3_uc009ymt.1_Missense_Mutation_p.S82F NM_004177 NP_004168 Q13277 STX3_HUMAN syntaxin 3 179 Cytoplasmic (Potential). cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule arachidonic acid binding|SNAP receptor activity ovary(2) 2 ATCTTCACTTCTGGGGTGAGT 0.562 NaN 0 0 0 0.002299 0 20 14 TMEM132A 54972 broad.mit.edu 37 11 60702234 60702234 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:60702234G>A uc001nqj.2 + 9 2027 c.1834G>A c.(1834-1836)GAG>AAG p.E612K TMEM132A_uc001nqi.2_Missense_Mutation_p.E613K|TMEM132A_uc001nqm.2_5'UTR NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 612 Binds to HSPA5/GRP78 (By similarity).|Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 CACCTCCATTGAGGTAAGCAG 0.667 NaN 0 0 0 0.006999 0 34 19 AHNAK 79026 broad.mit.edu 37 11 62293224 62293224 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62293224C>G uc001ntl.2 - 5 8965 c.8665G>C c.(8665-8667)GAC>CAC p.D2889H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2889 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AGGTGCCAGTCTGGACCCTGA 0.517 NaN 0 0 0 0.00361 0 74 257 AHNAK 79026 broad.mit.edu 37 11 62293741 62293741 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62293741C>T uc001ntl.2 - 5 8448 c.8148G>A c.(8146-8148)CTG>CTA p.L2716L AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2716 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGTCCTTTCAGGTTTAAGT 0.473 NaN 0 0 0 0.00361 0 58 181 AHNAK 79026 broad.mit.edu 37 11 62293851 62293851 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62293851C>G uc001ntl.2 - 5 8338 c.8038G>C c.(8038-8040)GAT>CAT p.D2680H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2680 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) ATGTTAACATCAGGGCCTTCA 0.498 NaN 0 0 0 0.00361 0 53 159 AHNAK 79026 broad.mit.edu 37 11 62295310 62295310 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62295310C>G uc001ntl.2 - 5 6879 c.6579G>C c.(6577-6579)TTG>TTC p.L2193F AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 2193 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) TGGGGCCTTTCAAGTTTAAGT 0.473 NaN 0 0 0 0.00361 0 106 352 EEF1G 1937 broad.mit.edu 37 11 62327634 62327634 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:62327634C>G uc001ntm.1 - 9 1208 c.1062G>C c.(1060-1062)AAG>AAC p.K354N EEF1G_uc010rlw.1_Missense_Mutation_p.K404N|EEF1G_uc001ntn.1_Missense_Mutation_p.K234N NM_001404 NP_001395 P26641 EF1G_HUMAN eukaryotic translation elongation factor 1 354 EF-1-gamma C-terminal. response to virus cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity 0 CGAAGGCATTCTTCCTCAGCT 0.517 NaN 0 0 0 0.011902 0 45 19 COX8A 1351 broad.mit.edu 37 11 63742235 63742235 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:63742235C>G uc001nye.2 + 1 157 c.83C>G c.(82-84)TCG>TGG p.S28W NM_004074 NP_004065 P10176 COX8A_HUMAN cytochrome c oxidase subunit VIIIa precursor 28 Mitochondrial matrix (By similarity). respiratory electron transport chain integral to membrane|mitochondrial inner membrane cytochrome-c oxidase activity 0 AAGATCCATTCGTTGCCGCCG 0.687 NaN 0 0 0 0.001368 0 12 20 CTTN 2017 broad.mit.edu 37 11 70281143 70281143 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:70281143G>A uc001opv.3 + 18 1734 c.1528G>A c.(1528-1530)GAG>AAG p.E510K CTTN_uc001opu.2_Missense_Mutation_p.E473K|CTTN_uc001opw.3_Missense_Mutation_p.E473K|CTTN_uc010rqm.1_Missense_Mutation_p.E194K|CTTN_uc001opx.2_Missense_Mutation_p.E194K NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 510 SH3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GGGCGATGATGAGATCTCATT 0.557 NaN 0 0 0 0.00361 0 42 145 TSKU 25987 broad.mit.edu 37 11 76506762 76506762 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:76506762C>T uc001oxt.2 + 2 274 c.102C>T c.(100-102)TTC>TTT p.F34F NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 34 LRRNT. extracellular region 0 Ovarian(111;0.112) TCGGCCTTTTCGACAGCTTCA 0.662 NaN 0 0 0 0.003271 0 32 87 TSKU 25987 broad.mit.edu 37 11 76507100 76507100 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:76507100C>T uc001oxt.2 + 2 612 c.440C>T c.(439-441)TCA>TTA p.S147L NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 147 LRR 4. extracellular region 0 Ovarian(111;0.112) CGGGAGGTCTCAGTGTCTGCC 0.652 NaN 0 0 0 0.007291 0 27 117 ODZ4 26011 broad.mit.edu 37 11 78381538 78381538 + Missense_Mutation SNP T T C rs76161186 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:78381538T>C uc001ozl.3 - 32 6315 c.5852A>G c.(5851-5853)GAC>GGC p.D1951G ODZ4_uc001ozk.3_Missense_Mutation_p.D176G|ODZ4_uc009yvb.1_Missense_Mutation_p.D535G NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1951 YD 7.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 AGAGAGGCGGTCATTCTTGTC 0.547 NaN 0 0 0 0.001984 0 6 122 FOLH1B 219595 broad.mit.edu 37 11 89424091 89424091 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:89424091C>A uc001pda.2 + 11 1267 c.741C>A c.(739-741)GTC>GTA p.V247V NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 247 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 ATCACAGTGTCTATGAAACAT 0.373 NaN 1 0 0.00307968 0.00308 0.00312232 5 44 USP28 57646 broad.mit.edu 37 11 113694393 113694393 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:113694393C>T uc001poh.2 - 12 1250 c.1217G>A c.(1216-1218)CGA>CAA p.R406Q USP28_uc001pog.2_Missense_Mutation_p.R114Q|USP28_uc010rwy.1_Missense_Mutation_p.R281Q|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.R406Q NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 406 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCTCTTATTTCGAATAAGCTC 0.284 NaN 0 0 0 0.00245 0 11 4 SIAE 54414 broad.mit.edu 37 11 124518069 124518069 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:124518069G>A uc001qan.2 - 6 838 c.725C>T c.(724-726)TCC>TTC p.S242F NM_170601 NP_733746 Q9HAT2 SIAE_HUMAN sialate O-acetylesterase precursor 242 extracellular region|lysosome carboxylesterase activity|sialate O-acetylesterase activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243) GTATGGAATGGACCTGAAATC 0.443 NaN 0 0 0 0.003954 0 23 25 ARHGAP32 9743 broad.mit.edu 37 11 128936700 128936700 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:128936700G>C uc009zcp.2 - 6 553 c.553C>G c.(553-555)CTG>GTG p.L185V ARHGAP32_uc009zcq.1_Missense_Mutation_p.L145V|ARHGAP32_uc001qfb.2_Translation_Start_Site NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 185 PX; atypical. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 TAAATACACAGATGAAGATGT 0.373 NaN 0 0 0 0.000602 0 5 28 ADAMTS8 11095 broad.mit.edu 37 11 130275534 130275534 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:130275534G>A uc001qgg.3 - 9 2947 c.2589C>T c.(2587-2589)TCC>TCT p.S863S ADAMTS8_uc001qgf.2_Silent_p.S344S NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 863 TSP type-1 2. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) AGGCCTGGCCGGAGGGGTCCC 0.672 NaN 0 0 0 0.009096 0 3 68 SNX19 399979 broad.mit.edu 37 11 130785702 130785702 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:130785702G>C uc001qgk.3 - 1 681 c.133C>G c.(133-135)CTG>GTG p.L45V SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.L45V|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 45 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ACGTTGACCAGAAGGTGTATG 0.587 NaN 0 0 0 0.002299 0 20 71 VPS26B 112936 broad.mit.edu 37 11 134113161 134113161 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr11:134113161G>C uc001qhe.2 + 4 1150 c.694G>C c.(694-696)GAG>CAG p.E232Q NM_052875 NP_443107 Q4G0F5 VP26B_HUMAN vacuolar protein sorting 26 homolog B 232 protein transport|vacuolar transport cytosol|retromer complex 0 all_hematologic(175;0.127) all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216) AGCCAAGTACGAGATCATGGA 0.537 NaN 0 0 0 0.006214 0 9 22 ENO2 2026 broad.mit.edu 37 12 7031509 7031509 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:7031509C>G uc001qru.1 + 11 1401 c.1179C>G c.(1177-1179)ATC>ATG p.I393M ENO2_uc009zfi.1_Missense_Mutation_p.I393M|ENO2_uc010sfq.1_Missense_Mutation_p.I350M|ENO2_uc001qrv.1_Missense_Mutation_p.I393M|ATN1_uc001qrw.1_5'Flank NM_001975 NP_001966 P09104 ENOG_HUMAN enolase 2 393 gluconeogenesis|glycolysis phosphopyruvate hydratase complex|plasma membrane magnesium ion binding|phosphopyruvate hydratase activity 0 TGTTTCAGATCAAGACTGGTG 0.547 NaN 0 0 0 0.013114 0 38 62 DDX47 51202 broad.mit.edu 37 12 12978977 12978977 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:12978977C>G uc001rav.2 + 13 1677 c.1079C>G c.(1078-1080)TCC>TGC p.S360C DDX47_uc001rax.2_Missense_Mutation_p.S360C|DDX47_uc001ray.2_Missense_Mutation_p.S311C NM_016355 NP_057439 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 360 Helicase C-terminal. nucleolus|nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding 0 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) GCTGGGCGCTCCGGAAAGGCT 0.254 NaN 0 0 0 0.000602 0 5 47 DDX47 51202 broad.mit.edu 37 12 12980212 12980212 + Missense_Mutation SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:12980212A>T uc001rav.2 + 14 1737 c.1139A>T c.(1138-1140)CAC>CTC p.H380L DDX47_uc001rax.2_Missense_Mutation_p.H380L|DDX47_uc001ray.2_Missense_Mutation_p.H331L NM_016355 NP_057439 Q9H0S4 DDX47_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 47 380 Helicase C-terminal. nucleolus|nucleolus ATP binding|ATP-dependent helicase activity|protein binding|RNA binding 0 Prostate(47;0.0526) BRCA - Breast invasive adenocarcinoma(232;0.0354) CGCATAGAACACTTAATTGGG 0.473 NaN 0 0 0 0.003755 0 35 111 GSG1 83445 broad.mit.edu 37 12 13243611 13243611 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:13243611C>T uc001rbn.2 - 2 363 c.190G>A c.(190-192)GAG>AAG p.E64K GSG1_uc001rbj.2_Missense_Mutation_p.E51K|GSG1_uc001rbk.2_Missense_Mutation_p.E51K|GSG1_uc001rbl.2_Missense_Mutation_p.E51K|GSG1_uc001rbm.2_Missense_Mutation_p.E51K|GSG1_uc001rbo.2_Missense_Mutation_p.E64K|GSG1_uc001rbp.2_Missense_Mutation_p.E64K|GSG1_uc001rbq.1_Missense_Mutation_p.E64K NM_001080555 NP_001074024 Q2KHT4 GSG1_HUMAN germ cell associated 1 isoform 4 51 endoplasmic reticulum membrane|integral to membrane 0 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) AGACCTTTCTCGCACAGGGGC 0.542 NaN 0 0 0 0.00361 0 56 95 PDE3A 5139 broad.mit.edu 37 12 20803462 20803462 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:20803462C>G uc001reh.1 + 14 2875 c.2853C>G c.(2851-2853)ATC>ATG p.I951M NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 951 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) TGGCTGATATCAATGGTCCAG 0.348 NaN 0 0 0 0.003271 0 32 31 ST8SIA1 6489 broad.mit.edu 37 12 22408294 22408294 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:22408294T>A uc001rfo.3 - 3 893 c.411A>T c.(409-411)AAA>AAT p.K137N ST8SIA1_uc009zix.2_Intron NM_003034 NP_003025 Q92185 SIA8A_HUMAN alpha-2,8-sialyltransferase 1 137 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(3) 3 CCACCGCGCATTTCTTCAATG 0.478 NaN 0 0 0 0.00361 0 108 107 BCAT1 586 broad.mit.edu 37 12 25031487 25031487 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:25031487G>A uc001rgd.3 - 5 929 c.487C>T c.(487-489)CGT>TGT p.R163C BCAT1_uc001rgc.2_Missense_Mutation_p.R162C|BCAT1_uc010six.1_Missense_Mutation_p.R175C|BCAT1_uc010siy.1_Missense_Mutation_p.R126C|BCAT1_uc001rge.3_Missense_Mutation_p.R102C NM_005504 NP_005495 P54687 BCAT1_HUMAN branched chain aminotransferase 1, cytosolic 163 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity lung(1)|breast(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) AATGTAGGACGAATATACAGA 0.373 NaN 0 0 0 0.008361 0 23 26 MLL2 8085 broad.mit.edu 37 12 49447270 49447270 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:49447270G>A uc001rta.3 - 6 828 c.828C>T c.(826-828)TGC>TGT p.C276C NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 276 PHD-type 2.|PHD-type 1.|RING-type 2; degenerate.|Cys-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TGCAGGCTTGGCACACTTTGC 0.557 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.00308 0 6 16 BCDIN3D 144233 broad.mit.edu 37 12 50232675 50232675 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:50232675C>T uc001rvh.2 - 2 400 c.358G>A c.(358-360)GAA>AAA p.E120K LOC100286844_uc010smm.1_Intron|LOC100286844_uc001rvg.2_RNA|LOC100286844_uc010smn.1_RNA NM_181708 NP_859059 Q7Z5W3 BN3D2_HUMAN BCDIN3 domain containing 120 Bin3-type SAM. methyltransferase activity ovary(1) 1 CATTCTTTTTCGGCTCGCTTC 0.488 NaN OREG0021805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010504 0 17 50 DIP2B 57609 broad.mit.edu 37 12 51117053 51117053 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51117053C>G uc001rwv.2 + 27 3391 c.3235C>G c.(3235-3237)CCA>GCA p.P1079A DIP2B_uc009zlt.2_Missense_Mutation_p.P509A NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1079 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 CGTCAGACCTCCACATGCTCA 0.522 NaN 0 0 0 0.013114 0 36 98 DIP2B 57609 broad.mit.edu 37 12 51118560 51118560 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51118560C>T uc001rwv.2 + 28 3447 c.3291C>T c.(3289-3291)GTC>GTT p.V1097V DIP2B_uc009zlt.2_Silent_p.V527V NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1097 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 TTTTCTAGGTCAGCAAAGCAG 0.532 NaN 0 0 0 0.00245 0 8 53 DIP2B 57609 broad.mit.edu 37 12 51121551 51121551 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51121551C>G uc001rwv.2 + 29 3622 c.3466C>G c.(3466-3468)CTT>GTT p.L1156V DIP2B_uc009zlt.2_Missense_Mutation_p.L586V NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 1156 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 GTTGGCATATCTTGATTTTAG 0.433 NaN 0 0 0 0.00361 0 42 114 METTL7A 25840 broad.mit.edu 37 12 51319290 51319290 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51319290C>T uc001rxb.2 + 1 757 c.469C>T c.(469-471)CTC>TTC p.L157F METTL7A_uc010smv.1_Intron NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN methyltransferase like 7A precursor 157 endoplasmic reticulum|lipid particle|membrane methyltransferase activity 0 GGAGCGGATTCTCCGCGAGGT 0.562 NaN 0 0 0 0.007413 0 18 36 POU6F1 5463 broad.mit.edu 37 12 51585471 51585471 + Silent SNP G G A rs150600315 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51585471G>A uc001rxy.2 - 4 660 c.468C>T c.(466-468)ATC>ATT p.I156I POU6F1_uc001rxz.2_Silent_p.I156I|POU6F1_uc001rya.2_Silent_p.I156I NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 156 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 AGAGCCGCCGGATCTTAAAGT 0.572 NaN 0 0 0 0.00361 0 43 93 POU6F1 5463 broad.mit.edu 37 12 51585498 51585498 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51585498G>C uc001rxy.2 - 4 633 c.441C>G c.(439-441)ATC>ATG p.I147M POU6F1_uc001rxz.2_Missense_Mutation_p.I147M|POU6F1_uc001rya.2_Missense_Mutation_p.I147M NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 147 POU-specific. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CAAACTCCCGGATCTCTTCTA 0.557 NaN 0 0 0 0.00361 0 52 118 POU6F1 5463 broad.mit.edu 37 12 51586129 51586129 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51586129G>A uc001rxy.2 - 3 567 c.375C>T c.(373-375)GTC>GTT p.V125V POU6F1_uc001rxz.2_Silent_p.V125V|POU6F1_uc001rya.2_Silent_p.V125V NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 125 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 CCAACTGGCTGACGGTGGGGG 0.582 NaN 0 0 0 0.00361 0 52 176 POU6F1 5463 broad.mit.edu 37 12 51586207 51586207 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:51586207G>A uc001rxy.2 - 3 489 c.297C>T c.(295-297)GTC>GTT p.V99V POU6F1_uc001rxz.2_Silent_p.V99V|POU6F1_uc001rya.2_Silent_p.V99V NM_002702 NP_002693 Q14863 PO6F1_HUMAN POU class 6 homeobox 1 99 Gln/Pro-rich. brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(1) 1 GGCTGGCAATGACCACAGCAG 0.607 NaN 0 0 0 0.00361 0 50 147 KRT18 3875 broad.mit.edu 37 12 53345344 53345344 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:53345344C>A uc001sbe.2 + 5 806 c.737C>A c.(736-738)GCC>GAC p.A246D KRT18_uc009zmn.1_Missense_Mutation_p.A246D|KRT18_uc001sbf.1_Missense_Mutation_p.A73D|KRT18_uc001sbg.2_Missense_Mutation_p.A246D|KRT18_uc009zmo.2_Missense_Mutation_p.A246D|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank NM_199187 NP_954657 P05783 K1C18_HUMAN keratin 18 246 Interaction with DNAJB6.|Linker 12.|Rod.|Necessary for interaction with PNN. A -> S (in Ref. 8; CAA31369). anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis centriolar satellite|keratin filament|perinuclear region of cytoplasm protein binding|structural molecule activity skin(1) 1 CAGGACCTCGCCAAGATCATG 0.562 NaN 1 0 7.93312e-07 0.00245 8.15589e-07 12 30 RARG 5916 broad.mit.edu 37 12 53607440 53607440 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:53607440C>G uc001sce.2 - 8 1343 c.858G>C c.(856-858)ATG>ATC p.M286I RARG_uc001scd.2_Missense_Mutation_p.M275I|RARG_uc010sob.1_Missense_Mutation_p.M264I|RARG_uc001scf.2_Missense_Mutation_p.M286I|RARG_uc001scg.2_Missense_Mutation_p.M214I|RARG_uc010soc.1_Missense_Mutation_p.M165I|RARG_uc010sod.1_Missense_Mutation_p.M323I NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 286 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CGGAGAAGGTCATGGTGTCCT 0.607 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 91 65 RARG 5916 broad.mit.edu 37 12 53607956 53607956 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:53607956C>G uc001sce.2 - 7 1185 c.700G>C c.(700-702)GCT>CCT p.A234P RARG_uc001scd.2_Missense_Mutation_p.A223P|RARG_uc010sob.1_Missense_Mutation_p.A212P|RARG_uc001scf.2_Missense_Mutation_p.A234P|RARG_uc001scg.2_Missense_Mutation_p.A162P|RARG_uc010soc.1_Missense_Mutation_p.A113P|RARG_uc010sod.1_Missense_Mutation_p.A271P NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 234 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) CACTTGGTAGCCAGCTCACTG 0.567 NaN 0 0 0 0.010771 0 41 113 HOXC9 3225 broad.mit.edu 37 12 54394234 54394234 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:54394234G>A uc001sep.2 + 2 360 c.262G>A c.(262-264)GCC>ACC p.A88T HOXC9_uc001seq.2_Missense_Mutation_p.A88T NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 88 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 CCACCTCGGCGCCGACACGCG 0.711 NaN 0 0 0 0.007835 0 33 19 NFE2 4778 broad.mit.edu 37 12 54686942 54686942 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:54686942G>C uc009znk.2 - 2 848 c.338C>G c.(337-339)TCA>TGA p.S113* NFE2_uc001sfq.2_Nonsense_Mutation_p.S113*|NFE2_uc001sfr.3_Nonsense_Mutation_p.S113*|NFE2_uc009znl.2_Nonsense_Mutation_p.S113* NM_006163 NP_006154 Q16621 NFE2_HUMAN nuclear factor, erythroid derived 2 isoform 1 113 Transactivation domain. blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter actin cytoskeleton|cytoplasm|PML body protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding 0 GAGCAGGCCTGAGAGGCTCAG 0.592 NaN 0 0 0 0.00361 0 44 108 SMARCC2 6601 broad.mit.edu 37 12 56572315 56572315 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:56572315C>G uc001skb.2 - 14 1289 c.1183G>C c.(1183-1185)GAG>CAG p.E395Q SMARCC2_uc001skd.2_Missense_Mutation_p.E395Q|SMARCC2_uc001ska.2_Missense_Mutation_p.E395Q|SMARCC2_uc001skc.2_Missense_Mutation_p.E395Q|SMARCC2_uc010sqf.1_Missense_Mutation_p.E284Q NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 395 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TTCTCATCCTCATCCTACGAG 0.527 NaN 0 0 0 0.00361 0 77 45 CAND1 55832 broad.mit.edu 37 12 67700122 67700122 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:67700122C>G uc001stn.2 + 10 3111 c.2674C>G c.(2674-2676)CTG>GTG p.L892V CAND1_uc001sto.2_Missense_Mutation_p.L402V NM_018448 NP_060918 Q86VP6 CAND1_HUMAN TIP120 protein 892 HEAT 21. cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(28;0.0279) TCCTGAATATCTGCCGTTTGT 0.418 NaN 0 0 0 0.007413 0 15 113 STAB2 55576 broad.mit.edu 37 12 104123937 104123937 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:104123937A>C uc001tjw.2 + 49 5312 c.5126A>C c.(5125-5127)GAT>GCT p.D1709A STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1709 Extracellular (Potential).|FAS1 5. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 ATATCCAGTGATATCATCAGT 0.333 NaN 0 0 0 0.012213 0 27 42 COX6A1 1337 broad.mit.edu 37 12 120875952 120875952 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:120875952C>T uc001tyf.1 + 1 49 c.23C>T c.(22-24)TCG>TTG p.S8L NM_004373 NP_004364 P12074 CX6A1_HUMAN cytochrome c oxidase subunit VIa polypeptide 1 8 respiratory electron transport chain mitochondrial respiratory chain complex IV cytochrome-c oxidase activity 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGTGTGTCCTCGGTTTCTCGG 0.637 NaN 0 0 0 0.003954 0 21 6 HIP1R 9026 broad.mit.edu 37 12 123338615 123338615 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:123338615C>T uc001udj.1 + 8 662 c.603C>T c.(601-603)ATC>ATT p.I201I HIP1R_uc001udg.1_Silent_p.I189I|HIP1R_uc001udi.1_Silent_p.I201I NM_003959 NP_003950 O75146 HIP1R_HUMAN huntingtin interacting protein-1-related 201 receptor-mediated endocytosis clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm actin binding|phosphatidylinositol binding ovary(1) 1 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2) ACACGGCCATCGCCGTATCCC 0.602 NaN 0 0 0 0.00361 0 88 246 EP400 57634 broad.mit.edu 37 12 132547196 132547196 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr12:132547196G>A uc001ujn.2 + 46 8319 c.8284G>A c.(8284-8286)GGC>AGC p.G2762S EP400_uc001ujl.2_Missense_Mutation_p.G2761S|EP400_uc001ujm.2_Missense_Mutation_p.G2681S|EP400_uc001ujp.2_5'UTR NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2798 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) ACAGATCCAGGGCCAGGCCCA 0.418 NaN 0 0 0 0.00361 0 51 48 ZDHHC20 253832 broad.mit.edu 37 13 21955650 21955650 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:21955650C>T uc001uob.2 - 11 1093 c.980G>A c.(979-981)AGT>AAT p.S327N ZDHHC20_uc001uod.2_RNA|ZDHHC20_uc001uoc.2_RNA|ZDHHC20_uc001uoe.2_RNA|ZDHHC20_uc010tcs.1_Missense_Mutation_p.S265N NM_153251 NP_694983 Q5W0Z9 ZDH20_HUMAN zinc finger, DHHC-type containing 20 328 integral to membrane acyltransferase activity|zinc ion binding ovary(1) 1 all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367) all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171) TTTTGATTCACTAAGTGGTTT 0.378 NaN 0 0 0 0.009718 0 35 14 ATP12A 479 broad.mit.edu 37 13 25274960 25274960 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:25274960C>T uc001upp.2 + 13 1968 c.1781C>T c.(1780-1782)CCG>CTG p.P594L ATP12A_uc010aaa.2_Missense_Mutation_p.P600L NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 594 Cytoplasmic (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) ATGAACTTTCCGACCTCCAAC 0.488 NaN 0 0 0 0.00361 0 61 28 PABPC3 5042 broad.mit.edu 37 13 25671754 25671754 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:25671754C>T uc001upy.2 + 1 1479 c.1418C>T c.(1417-1419)ACG>ATG p.T473M NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 473 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) GTCATGTCAACGCAGCGTGTT 0.423 NaN 0 0 0 0.00278 0 20 88 RNF6 6049 broad.mit.edu 37 13 26788716 26788716 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:26788716C>T uc001uqo.2 - 5 1594 c.1303G>A c.(1303-1305)GAA>AAA p.E435K RNF6_uc001uqn.1_Intron|RNF6_uc010aak.2_Missense_Mutation_p.E435K|RNF6_uc001uqp.2_Missense_Mutation_p.E435K|RNF6_uc001uqq.2_Missense_Mutation_p.E435K|RNF6_uc010tdk.1_Missense_Mutation_p.E79K NM_183044 NP_898865 Q9Y252 RNF6_HUMAN ring finger protein 6 435 negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process axon|cytoplasm|PML body androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|skin(1) 2 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245) CTATTGCTTTCAATAGTGACT 0.438 NaN 0 0 0 0.00361 0 39 126 BRCA2 675 broad.mit.edu 37 13 32911868 32911868 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32911868G>C uc001uub.1 + 11 3603 c.3376G>C c.(3376-3378)GAA>CAA p.E1126Q NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1126 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AAGTCAGTTTGAATTTACTCA 0.343 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.003163 0 15 28 BRCA2 675 broad.mit.edu 37 13 32912648 32912648 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32912648G>T uc001uub.1 + 11 4383 c.4156G>T c.(4156-4158)GAT>TAT p.D1386Y NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1386 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGATTTGTCAGATTTAACTTT 0.338 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 1 0 0.00136819 0.001368 0.00139357 10 36 BRCA2 675 broad.mit.edu 37 13 32913201 32913201 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32913201G>C uc001uub.1 + 11 4936 c.4709G>C c.(4708-4710)AGA>ACA p.R1570T NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1570 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTAAAGTACAGAGAGGCCTGT 0.383 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.008871 0 16 86 BRCA2 675 broad.mit.edu 37 13 32914175 32914175 + Missense_Mutation SNP G G A rs146351301 by1000genomes TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32914175G>A uc001uub.1 + 11 5910 c.5683G>A c.(5683-5685)GAG>AAG p.E1895K NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1895 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGGTTGTTACGAGGCATTGGA 0.338 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.008291 0 10 48 BRCA2 675 broad.mit.edu 37 13 32914223 32914223 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:32914223G>A uc001uub.1 + 11 5958 c.5731G>A c.(5731-5733)GAT>AAT p.D1911N NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1911 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TCTAGATAATGATGAATGTAG 0.338 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.001368 0 11 38 SCEL 8796 broad.mit.edu 37 13 78163292 78163292 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:78163292C>T uc001vki.2 + 10 729 c.559C>T c.(559-561)CAC>TAC p.H187Y SCEL_uc001vkj.2_Missense_Mutation_p.H187Y|SCEL_uc010thx.1_Missense_Mutation_p.H165Y NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 187 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACCAGGTGTTCACCCTCCAAT 0.393 NaN 0 0 0 0.006122 0 14 70 SCEL 8796 broad.mit.edu 37 13 78163298 78163298 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:78163298C>T uc001vki.2 + 10 735 c.565C>T c.(565-567)CCA>TCA p.P189S SCEL_uc001vkj.2_Missense_Mutation_p.P189S|SCEL_uc010thx.1_Missense_Mutation_p.P167S NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 189 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TGTTCACCCTCCAATACCTCC 0.393 NaN 0 0 0 0.008871 0 15 75 DZIP1 22873 broad.mit.edu 37 13 96238358 96238358 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:96238358C>T uc001vmk.2 - 21 3103 c.2251G>A c.(2251-2253)GAA>AAA p.E751K DZIP1_uc001vmi.2_5'UTR|DZIP1_uc001vmj.2_Missense_Mutation_p.E227K|DZIP1_uc001vml.2_Missense_Mutation_p.E732K|DZIP1_uc001vmm.2_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 751 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AACATCTTTTCAACTTTTTCA 0.308 NaN 0 0 0 0.008291 0 10 26 NALCN 259232 broad.mit.edu 37 13 101735186 101735186 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:101735186C>G uc001vox.1 - 33 3928 c.3739G>C c.(3739-3741)GTT>CTT p.V1247L NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 1247 Helical; Name=S2 of repeat IV; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AAGGTGAAAACAACTGACATT 0.493 NaN 0 0 0 0.00632 0 26 106 TPP2 7174 broad.mit.edu 37 13 103275268 103275268 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:103275268C>T uc001vpi.3 + 6 765 c.662C>T c.(661-663)TCT>TTT p.S221F NM_003291 NP_003282 P29144 TPP2_HUMAN tripeptidyl peptidase II 221 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTGAGTAAATCTACCGTGTTG 0.343 NaN 0 0 0 0.003954 0 23 109 CARS2 79587 broad.mit.edu 37 13 111340160 111340160 + Missense_Mutation SNP G G A rs143602497 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:111340160G>A uc001vrd.2 - 5 519 c.479C>T c.(478-480)ACG>ATG p.T160M CARS2_uc010tjm.1_RNA NM_024537 NP_078813 Q9HA77 SYCM_HUMAN cysteinyl-tRNA synthetase 2, mitochondrial 160 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding 0 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CAGGTACACCGTGGGTGGGAG 0.507 NaN 0 0 0 0.00361 0 47 131 PROZ 8858 broad.mit.edu 37 13 113814360 113814360 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:113814360C>T uc001vta.1 + 2 110 c.103C>T c.(103-105)CTG>TTG p.L35L PROZ_uc010agr.1_Silent_p.L57L NM_003891 NP_003882 P22891 PROZ_HUMAN protein Z, vitamin K-dependent plasma 35 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|serine-type endopeptidase activity 0 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.216) all cancers(43;0.104) Menadione(DB00170) AAACGACGTTCTGGTGAGGTG 0.517 NaN 0 0 0 0.00361 0 72 233 FAM70B 348013 broad.mit.edu 37 13 114503880 114503880 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr13:114503880C>T uc001vuh.2 + 6 531 c.504C>T c.(502-504)TGC>TGT p.C168C NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 168 integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) TCTATGCCTGCGGGAGGTGAG 0.647 NaN 0 0 0 0.004289 0 20 12 PSME1 5720 broad.mit.edu 37 14 24606976 24606976 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:24606976G>A uc001wmg.2 + 6 454 c.360G>A c.(358-360)GAG>GAA p.E120E PSME1_uc001wmh.2_Silent_p.E120E NM_006263 NP_006254 Q06323 PSME1_HUMAN proteasome activator subunit 1 isoform 1 120 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) TGAAGCCTGAGATCAAGGATG 0.512 NaN 0 0 0 0.007835 0 29 48 TGM1 7051 broad.mit.edu 37 14 24727513 24727513 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:24727513G>A uc001wod.2 - 9 1504 c.1380C>T c.(1378-1380)GCC>GCT p.A460A TGM1_uc010tog.1_Silent_p.A18A NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 460 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) CTTGGGGTGTGGCATCCACCA 0.592 NaN 0 0 0 0.003954 0 21 29 NUBPL 80224 broad.mit.edu 37 14 32068580 32068580 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:32068580C>T uc001wrk.3 + 4 432 c.377C>T c.(376-378)TCA>TTA p.S126L NUBPL_uc010amj.2_RNA|NUBPL_uc010tpl.1_Missense_Mutation_p.S30L NM_025152 NP_079428 Q8TB37 NUBPL_HUMAN nucleotide binding protein-like 126 mitochondrial respiratory chain complex I assembly|mitochondrion morphogenesis mitochondrion 4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding 0 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.214) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0677)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0102) CCGGAATTATCACAGAGTAAG 0.234 NaN 0 0 0 0.004007 0 17 26 ARHGAP5 394 broad.mit.edu 37 14 32560834 32560834 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:32560834C>G uc001wrl.2 + 2 1198 c.959C>G c.(958-960)TCA>TGA p.S320* ARHGAP5_uc001wrm.2_Nonsense_Mutation_p.S320*|ARHGAP5_uc001wrn.2_Nonsense_Mutation_p.S320*|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 320 FF 1. 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) AATACATTCTCAAAACATATA 0.299 NaN 0 0 0 0.007413 0 15 19 CFL2 1073 broad.mit.edu 37 14 35182587 35182587 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:35182587C>G uc001wsg.3 - 2 325 c.184G>C c.(184-186)GAT>CAT p.D62H CFL2_uc010tpn.1_Missense_Mutation_p.D45H|CFL2_uc001wsh.3_Missense_Mutation_p.D62H|CFL2_uc001wsi.3_Intron|CFL2_uc001wsj.3_Intron NM_021914 NP_068733 Q9Y281 COF2_HUMAN cofilin 2 62 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(2) 2 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) TCTACAGTATCACCAATGTCA 0.398 NaN 0 0 0 0.003954 0 20 28 C14orf106 55320 broad.mit.edu 37 14 45693269 45693269 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:45693269C>T uc001wwf.2 - 11 2980 c.2521G>A c.(2521-2523)GAA>AAA p.E841K NM_018353 NP_060823 Q6P0N0 M18BP_HUMAN chromosome 14 open reading frame 106 841 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm DNA binding 0 TGAAGAGTTTCTTTGACGGAA 0.358 NaN 0 0 0 0.001168 0 5 12 L2HGDH 79944 broad.mit.edu 37 14 50735964 50735964 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:50735964C>G uc001wxu.2 - 7 902 c.823G>C c.(823-825)GAT>CAT p.D275H L2HGDH_uc010tqn.1_Missense_Mutation_p.D275H|L2HGDH_uc010tqo.1_Missense_Mutation_p.D275H NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN L-2-hydroxyglutarate dehydrogenase precursor 275 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity ovary(2) 2 all_epithelial(31;0.000599)|Breast(41;0.0102) ATTCGAGGATCAGGAGTGCAG 0.408 NaN 0 0 0 0.00361 0 52 72 NID2 22795 broad.mit.edu 37 14 52477650 52477650 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:52477650G>A uc001wzo.2 - 18 3900 c.3666C>T c.(3664-3666)GTC>GTT p.V1222V NID2_uc010tqs.1_Silent_p.V1174V|NID2_uc010tqt.1_Silent_p.V1222V NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 1222 LDL-receptor class B 2. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) TGTAGAAGAGGACCTTGCGCT 0.532 NaN 0 0 0 0.002836 0 32 53 C14orf135 64430 broad.mit.edu 37 14 60585115 60585115 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:60585115G>C uc001xer.3 + 6 1467 c.945G>C c.(943-945)TTG>TTC p.L315F C14orf135_uc001xeq.2_Missense_Mutation_p.L315F|C14orf135_uc010apm.2_RNA NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 549 Helical; (Potential). integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) CTGTGCTTTTGACATCATGGA 0.338 NaN 0 0 0 0.000602 0 5 9 SYNE2 23224 broad.mit.edu 37 14 64545285 64545285 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:64545285G>C uc001xgm.2 + 55 11354 c.11124G>C c.(11122-11124)CAG>CAC p.Q3708H SYNE2_uc001xgl.2_Missense_Mutation_p.Q3708H|SYNE2_uc010apy.2_Missense_Mutation_p.Q70H|SYNE2_uc010apw.1_Missense_Mutation_p.Q414H|SYNE2_uc010apx.1_Missense_Mutation_p.Q100H NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3708 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) TGTTGCAGCAGAAAAGCAAAA 0.358 NaN 0 0 0 0.00308 0 8 12 SYNE2 23224 broad.mit.edu 37 14 64680977 64680977 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:64680977G>C uc001xgm.2 + 106 19352 c.19122G>C c.(19120-19122)CAG>CAC p.Q6374H SYNE2_uc001xgl.2_Missense_Mutation_p.Q6374H|SYNE2_uc010apy.2_Missense_Mutation_p.Q2759H|SYNE2_uc001xgn.2_Missense_Mutation_p.Q1336H|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Q344H|SYNE2_uc001xgq.2_Missense_Mutation_p.Q739H|SYNE2_uc001xgr.2_Missense_Mutation_p.Q157H|SYNE2_uc010tsi.1_Missense_Mutation_p.Q8H|SYNE2_uc001xgs.2_Missense_Mutation_p.Q8H|SYNE2_uc001xgt.2_5'Flank NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6374 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) GAGAAATCCAGACTGATTCTT 0.512 NaN 0 0 0 0.00361 0 43 56 C14orf4 64207 broad.mit.edu 37 14 77492329 77492329 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:77492329G>A uc001xsy.2 - 1 2706 c.1807C>T c.(1807-1809)CTG>TTG p.L603L NM_024496 NP_078772 Q9H1B7 I2BPL_HUMAN chromosome 14 open reading frame 4 603 Pro-rich. nucleus 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.00347)|KIRC - Kidney renal clear cell carcinoma(182;0.0878) TGGGGTCCCAGAGGTgggggc 0.507 NaN 0 0 0 0.009096 0 3 4 KIAA1737 85457 broad.mit.edu 37 14 77580381 77580381 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:77580381C>T uc001xtd.2 + 4 1099 c.920C>T c.(919-921)TCA>TTA p.S307L KIAA1737_uc001xtc.1_Missense_Mutation_p.S209L NM_033426 NP_219494 Q9C0C6 K1737_HUMAN KIAA1737 protein 307 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0284) GATATCTTTTCAGAGCAGCGG 0.478 NaN 0 0 0 0.010504 0 19 36 ADCK1 57143 broad.mit.edu 37 14 78397944 78397944 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:78397944C>G uc001xui.2 + 10 1389 c.1290C>G c.(1288-1290)CTC>CTG p.L430L ADCK1_uc001xuj.2_Silent_p.L362L|ADCK1_uc001xul.2_Silent_p.L137L NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 isoform a 437 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity stomach(2)|ovary(1) 3 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) AGATGCTGCTCATCTTGAAGA 0.602 NaN 0 0 0 0.003954 0 25 43 AKT1 207 broad.mit.edu 37 14 105242100 105242100 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:105242100G>A uc001ypk.2 - 5 878 c.324C>T c.(322-324)GAC>GAT p.D108D INF2_uc010tyi.1_Intron|AKT1_uc001ypl.2_Silent_p.D108D|AKT1_uc010axa.2_Silent_p.D108D|AKT1_uc001ypm.2_Silent_p.D108D|AKT1_uc001ypn.2_Silent_p.D108D|AKT1_uc010tyk.1_Silent_p.D46D NM_005163 NP_005154 P31749 AKT1_HUMAN AKT1 kinase 108 PH. activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity breast(86)|urinary_tract(12)|thyroid(10)|lung(7)|endometrium(5)|large_intestine(4)|skin(4)|prostate(3)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|NS(1) 134 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TCTTGAGGCCGTCAGCCACAG 0.617 1 Mis breast|colorectal|ovarian|NSCLC 0 0 0 0.007291 0 21 7 AHNAK2 113146 broad.mit.edu 37 14 105419487 105419487 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr14:105419487C>T uc010axc.1 - 7 2421 c.2301G>A c.(2299-2301)AAG>AAA p.K767K AHNAK2_uc001ypx.2_Silent_p.K667K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 767 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTTGGGCATCTTCAAACTGG 0.617 NaN 0 0 0 0.00361 0 46 25 UBE3A 7337 broad.mit.edu 37 15 25615955 25615955 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:25615955C>G uc001zaq.2 - 4 1375 c.1375G>C c.(1375-1377)GAA>CAA p.E459Q uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.E436Q|UBE3A_uc001zas.2_Missense_Mutation_p.E456Q|UBE3A_uc001zat.2_Missense_Mutation_p.E436Q NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 459 Interaction with HCV core protein. brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) TTATCCATTTCTAGAACCTCA 0.353 NaN 0 0 0 0.000602 0 5 17 KLF13 51621 broad.mit.edu 37 15 31619856 31619856 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:31619856C>G uc001zfo.2 + 1 774 c.441C>G c.(439-441)CTC>CTG p.L147L NM_015995 NP_057079 Q9Y2Y9 KLF13_HUMAN Kruppel-like factor 13 147 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|zinc ion binding 0 all_lung(180;3.71e-11) all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171) AGCCCGGCCTCAGACAAAGGG 0.642 NaN 0 0 0 0.000602 0 4 6 RYR3 6263 broad.mit.edu 37 15 34130198 34130198 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:34130198C>A uc001zhi.2 + 89 12087 c.12017C>A c.(12016-12018)CCA>CAA p.P4006Q RYR3_uc010bar.2_Missense_Mutation_p.P4001Q NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 4006 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GAACACATGCCAAACGATTCC 0.463 NaN 1 0 2.46799e-47 0.00361 2.70616e-47 78 114 INO80 54617 broad.mit.edu 37 15 41339643 41339643 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:41339643C>G uc001zni.2 - 23 2911 c.2698G>C c.(2698-2700)GAA>CAA p.E900Q INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 900 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TTTGCCATTTCTGCTGGAGAT 0.373 NaN 0 0 0 0.003755 0 26 21 RPAP1 26015 broad.mit.edu 37 15 41816160 41816160 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:41816160C>T uc001zod.2 - 17 2369 c.2245G>A c.(2245-2247)GAG>AAG p.E749K RPAP1_uc001zoc.2_5'UTR NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 749 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) AGGCTGGCCTCAGCAGAATCA 0.587 NaN 0 0 0 0.00308 0 8 14 JMJD7-PLA2G4B 8681 broad.mit.edu 37 15 42132996 42132996 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:42132996G>C uc010bco.2 + 4 345 c.244G>C c.(244-246)GAC>CAC p.D82H JMJD7-PLA2G4B_uc001zoo.3_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_uc010bcn.2_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_uc001zoq.3_5'UTR|JMJD7-PLA2G4B_uc001zor.1_5'Flank NM_001114633 NP_001108105 P0C869 PA24B_HUMAN phospholipase A2, group IVB 82 C2. arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition cytosol|early endosome membrane|extracellular region|mitochondrial membrane calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity large_intestine(1) 1 GAAAGTCTTTGACCAGGACCT 0.597 NaN 0 0 0 0.005443 0 26 93 USP8 9101 broad.mit.edu 37 15 50757369 50757369 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:50757369G>A uc001zym.3 + 8 1167 c.667G>A c.(667-669)GAA>AAA p.E223K USP8_uc001zyk.1_5'UTR|USP8_uc001zyl.3_Missense_Mutation_p.E223K|USP8_uc001zyn.3_Missense_Mutation_p.E223K|USP8_uc010ufh.1_Missense_Mutation_p.E146K|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 223 Rhodanese. cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CAGTGTTCCTGAAGAAGCCAT 0.378 NaN 0 0 0 0.00632 0 21 63 LIPC 3990 broad.mit.edu 37 15 58838000 58838000 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:58838000G>C uc010bga.1 + 7 1242 c.634G>C c.(634-636)GAT>CAT p.D212H LIPC_uc010bfz.1_Missense_Mutation_p.D212H|LIPC_uc002afa.1_Missense_Mutation_p.D212H|LIPC_uc010bgb.1_Missense_Mutation_p.D110H|LIPC_uc010ugy.1_Missense_Mutation_p.D151H NM_000236 NP_000227 P11150 LIPC_HUMAN lipase C precursor 212 cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling high-density lipoprotein particle apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity ovary(1) 1 Colorectal(260;0.215) GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548) TCTTTCTCCAGATGATGCCAA 0.537 NaN 0 0 0 0.00361 0 189 128 VPS13C 54832 broad.mit.edu 37 15 62212771 62212771 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:62212771G>A uc002agz.2 - 56 7212 c.7138C>T c.(7138-7140)CAT>TAT p.H2380Y VPS13C_uc002aha.2_Missense_Mutation_p.H2337Y|VPS13C_uc002ahb.1_Missense_Mutation_p.H2380Y|VPS13C_uc002ahc.1_Missense_Mutation_p.H2337Y|VPS13C_uc002ahd.1_5'Flank NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 2380 protein localization ovary(2) 2 GAAGAAATATGAATTGCCATT 0.313 NaN 0 0 0 0.012319 0 14 9 VPS13C 54832 broad.mit.edu 37 15 62254674 62254674 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:62254674C>A uc002agz.2 - 34 3573 c.3499G>T c.(3499-3501)GAG>TAG p.E1167* VPS13C_uc002aha.2_Nonsense_Mutation_p.E1124*|VPS13C_uc002ahb.1_Nonsense_Mutation_p.E1167*|VPS13C_uc002ahc.1_Nonsense_Mutation_p.E1124* NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1167 protein localization ovary(2) 2 AAATCCCCCTCAGTAGCATCT 0.388 NaN 1 0 1.18608e-55 0.00361 1.30706e-55 121 92 FBXL22 283807 broad.mit.edu 37 15 63893794 63893794 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:63893794G>A uc002amn.2 + 2 649 c.635G>A c.(634-636)AGA>AAA p.R212K uc002amj.2_5'Flank|uc002amk.2_5'Flank|uc002aml.2_5'Flank NM_203373 NP_976307 Q6P050 FXL22_HUMAN F-box and leucine-rich repeat protein 22 212 0 CGCACGGGCAGAAGGAGCCAC 0.716 NaN 0 0 0 0.006214 0 8 3 SMAD3 4088 broad.mit.edu 37 15 67477081 67477081 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:67477081C>G uc002aqj.2 + 7 1186 c.888C>G c.(886-888)CTC>CTG p.L296L SMAD3_uc010ujr.1_Silent_p.L191L|SMAD3_uc010ujs.1_Silent_p.L252L|SMAD3_uc010ujt.1_Silent_p.L101L NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 296 Sufficient for interaction with XPO4.|MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GCGTGCGGCTCTACTACATCG 0.587 NaN 0 0 0 0.008361 0 24 87 C15orf59 388135 broad.mit.edu 37 15 74032703 74032703 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:74032703G>A uc002avy.2 - 2 782 c.437C>T c.(436-438)ACG>ATG p.T146M NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 146 pancreas(1) 1 GGGGATGGGCGTGCCACCATT 0.667 NaN 0 0 0 0.004656 0 19 64 CSK 1445 broad.mit.edu 37 15 75092810 75092810 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:75092810G>C uc010bkb.1 + 7 703 c.520G>C c.(520-522)GAG>CAG p.E174Q CSK_uc002ays.2_Missense_Mutation_p.E174Q|CSK_uc010bkc.1_5'UTR NM_001127190 NP_001120662 P41240 CSK_HUMAN c-src tyrosine kinase 174 blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway centrosome|cytosol|Golgi apparatus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding lung(2)|central_nervous_system(1) 3 AAAGGTCATGGAGGGCACAGT 0.622 NaN OREG0023291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007413 0 14 35 GOLGA6D 653643 broad.mit.edu 37 15 75580671 75580671 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:75580671G>C uc010uma.1 + 7 565 c.530G>C c.(529-531)TGT>TCT p.C177S uc010umb.1_5'Flank NM_001145224 NP_001138696 P0CG33 GOG6D_HUMAN golgi autoantigen, golgin subfamily a, 6D 177 Potential. 0 CGGGCTCTCTGTGCTGTGTCT 0.557 NaN 0 0 0 0.010729 0 6 110 IMP3 55272 broad.mit.edu 37 15 75932413 75932413 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:75932413C>T uc002bat.2 - 2 1041 c.97G>A c.(97-99)GTG>ATG p.V33M IMP3_uc010bkl.1_Missense_Mutation_p.V33M NM_018285 NP_060755 Q9NV31 IMP3_HUMAN IMP3, U3 small nucleolar ribonucleoprotein 33 Arg-rich. rRNA processing nucleolus|ribonucleoprotein complex protein binding|rRNA binding 0 CGCCGCAGCACGCGCAGCTCG 0.657 NaN 0 0 0 0.010729 0 8 21 MESDC2 23184 broad.mit.edu 37 15 81282044 81282044 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:81282044C>A uc002bfy.1 - 1 162 c.89G>T c.(88-90)GGG>GTG p.G30V MESDC2_uc002bfx.2_RNA|MESDC2_uc010uno.1_RNA NM_015154 NP_055969 Q14696 MESD_HUMAN mesoderm development candidate 2 30 Chaperone domain (By similarity). mesoderm development|protein folding|Wnt receptor signaling pathway endoplasmic reticulum 0 CGCGCAGGACCCAGGCGGTGG 0.567 NaN 1 0 3.5997e-14 0.002299 3.80161e-14 21 44 SEMA4B 10509 broad.mit.edu 37 15 90764303 90764303 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:90764303C>G uc002boy.2 + 6 856 c.573C>G c.(571-573)TTC>TTG p.F191L SEMA4B_uc002boz.2_Missense_Mutation_p.F191L|SEMA4B_uc010uqd.1_Missense_Mutation_p.F29L|SEMA4B_uc002bpa.2_Missense_Mutation_p.F29L|SEMA4B_uc010bnv.1_5'Flank NM_020210 NP_064595 semaphorin 4B precursor ovary(1)|breast(1)|kidney(1) 3 Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272) BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217) ACCCGAATTTCAAGTCCACTG 0.572 NaN OREG0023469 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00245 0 11 5 FURIN 5045 broad.mit.edu 37 15 91423349 91423349 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:91423349C>T uc002bpu.1 + 13 1618 c.1402C>T c.(1402-1404)CGG>TGG p.R468W NM_002569 NP_002560 P09958 FURIN_HUMAN furin preproprotein 468 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity central_nervous_system(4)|lung(2)|breast(1) 7 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCTCGAGGTGCGGAAGACCGT 0.667 NaN 0 0 0 0.001855 0 10 40 OR4F15 390649 broad.mit.edu 37 15 102358647 102358647 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:102358647C>G uc010uts.1 + 1 258 c.258C>G c.(256-258)TTC>TTG p.F86L NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) GTGATATTTTCAAGAAGCACA 0.463 NaN 0 0 0 0.010504 0 22 84 RAB40C 57799 broad.mit.edu 37 16 677451 677451 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:677451C>T uc002chr.2 + 6 791 c.675C>T c.(673-675)TTC>TTT p.F225F RAB40C_uc002chq.2_Silent_p.F206F|WFIKKN1_uc002chs.1_5'Flank NM_021168 NP_066991 Q96S21 RB40C_HUMAN RAB40C, member RAS oncogene family 225 SOCS box. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding 0 Hepatocellular(780;0.0218) TCAAGTCCTTCTCGATGGCCA 0.652 NaN 0 0 0 0.00361 0 54 172 CASKIN1 57524 broad.mit.edu 37 16 2237255 2237255 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:2237255C>A uc010bsg.1 - 8 779 c.747G>T c.(745-747)GTG>GTT p.V249V NM_020764 NP_065815 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 249 ANK 6. signal transduction cytoplasm skin(2) 2 AGGTGTTCCTCACGTGGGCAT 0.632 NaN 1 0 6.00712e-18 0.012213 6.46845e-18 27 73 THOC6 79228 broad.mit.edu 37 16 3076366 3076366 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:3076366G>C uc002ctb.2 + 6 659 c.363G>C c.(361-363)AGG>AGC p.R121S HCFC1R1_uc002csx.1_5'Flank|HCFC1R1_uc002csy.1_5'Flank|HCFC1R1_uc002csz.1_5'Flank|THOC6_uc002ctd.2_Missense_Mutation_p.R121S|THOC6_uc002ctc.2_Missense_Mutation_p.R97S|THOC6_uc002cta.2_Missense_Mutation_p.R97S NM_024339 NP_077315 Q86W42 THOC6_HUMAN WD repeat domain 58 isoform 1 121 R -> S (in Ref. 1; BAG36782). intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex RNA binding ovary(1)|central_nervous_system(1) 2 CCTTCCCCAGGACCAGCCTGG 0.572 NaN 0 0 0 0.007413 0 15 40 DNAH3 55567 broad.mit.edu 37 16 21128567 21128567 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:21128567G>C uc010vbe.1 - 12 1771 c.1771C>G c.(1771-1773)CAA>GAA p.Q591E DNAH3_uc002die.2_Missense_Mutation_p.Q531E NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 591 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) TTGAAAGTTTGAATCAAAAAA 0.363 NaN 0 0 0 0.000602 0 4 58 ERN2 10595 broad.mit.edu 37 16 23724503 23724503 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:23724503C>T uc002dma.3 - 1 319 c.150G>A c.(148-150)GCG>GCA p.A50A ERN2_uc010bxp.2_Silent_p.A50A|ERN2_uc010bxq.1_5'UTR NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 2 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) TGACCGCACTCGCCATAGCGC 0.736 NaN 0 0 0 0.004482 0 7 5 XPO6 23214 broad.mit.edu 37 16 28145186 28145186 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:28145186C>T uc002dpa.1 - 11 2013 c.1512G>A c.(1510-1512)CTG>CTA p.L504L XPO6_uc002dpb.1_Silent_p.L490L|XPO6_uc010vcp.1_Silent_p.L504L NM_015171 NP_055986 Q96QU8 XPO6_HUMAN exportin 6 504 protein export from nucleus protein binding|protein transporter activity ovary(1)|skin(1) 2 CGTGCGTGGGCAGGAGCTCCA 0.587 NaN 0 0 0 0.00361 0 72 48 RNF40 9810 broad.mit.edu 37 16 30775620 30775620 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:30775620C>G uc002dzq.2 + 5 686 c.563C>G c.(562-564)TCC>TGC p.S188C C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Missense_Mutation_p.S188C|RNF40_uc010cab.2_Missense_Mutation_p.S188C|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Missense_Mutation_p.S188C|RNF40_uc010vfb.1_Intron NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 188 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) ATGGAGTTCTCCAAGGCAGCT 0.627 NaN 0 0 0 0.007413 0 14 57 RNF40 9810 broad.mit.edu 37 16 30776275 30776275 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:30776275C>G uc002dzq.2 + 6 789 c.666C>G c.(664-666)CTC>CTG p.L222L C16orf93_uc002dzm.2_5'Flank|C16orf93_uc002dzn.2_5'Flank|C16orf93_uc002dzo.2_5'Flank|C16orf93_uc002dzp.2_5'Flank|RNF40_uc010caa.2_Silent_p.L222L|RNF40_uc010cab.2_Silent_p.L222L|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Silent_p.L222L|RNF40_uc010vfb.1_Intron NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 222 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) GTGAGCCCCTCAGTGAGGCGG 0.602 NaN 0 0 0 0.010504 0 16 81 LONP2 83752 broad.mit.edu 37 16 48286132 48286132 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:48286132C>G uc002efi.1 + 2 413 c.324C>G c.(322-324)TTC>TTG p.F108L LONP2_uc010vgm.1_RNA|LONP2_uc002efj.1_Missense_Mutation_p.F108L NM_031490 NP_113678 Q86WA8 LONP2_HUMAN peroxisomal LON protease-like 108 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity 0 TATGCCGTTTCCAGATTGTAC 0.502 NaN 0 0 0 0.008871 0 17 16 IRX6 79190 broad.mit.edu 37 16 55363210 55363210 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:55363210G>C uc002ehy.2 + 5 1853 c.1320G>C c.(1318-1320)CCG>CCC p.P440P IRX6_uc002ehx.2_Silent_p.P440P NM_024335 NP_077311 P78412 IRX6_HUMAN iroquois homeobox protein 6 440 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(5)|ovary(1) 6 GCCAGTACCCGTCTGGAGCAG 0.627 NaN 0 0 0 0.009096 0 3 51 CCDC135 84229 broad.mit.edu 37 16 57731954 57731954 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:57731954G>A uc002emi.2 + 2 182 c.93G>A c.(91-93)ATG>ATA p.M31I CCDC135_uc002emj.2_Missense_Mutation_p.M31I|CCDC135_uc002emk.2_Missense_Mutation_p.M31I NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 31 Potential. cytoplasm central_nervous_system(1) 1 TGGAGAAAATGATGAGGCCAG 0.438 NaN 0 0 0 0.008291 0 10 13 CDH5 1003 broad.mit.edu 37 16 66423281 66423281 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:66423281A>C uc002eom.3 + 5 793 c.637A>C c.(637-639)AAA>CAA p.K213Q CDH5_uc002eon.1_Missense_Mutation_p.K213Q NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 213 Cadherin 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CACAATAACGAAAAGCTTGGA 0.443 NaN 0 0 0 0.006122 0 14 32 CDH5 1003 broad.mit.edu 37 16 66431938 66431938 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:66431938G>A uc002eom.3 + 9 1570 c.1414G>A c.(1414-1416)GAG>AAG p.E472K NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 472 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) AGTTTTGGATGAGAATGACAA 0.542 NaN 0 0 0 0.00361 0 72 96 SLC7A6 9057 broad.mit.edu 37 16 68325477 68325477 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:68325477C>T uc002evt.1 + 8 1244 c.935C>T c.(934-936)ACG>ATG p.T312M SLC7A6_uc010cfb.1_RNA|SLC7A6_uc002evu.1_Missense_Mutation_p.T312M|SLC7A6_uc002evv.1_RNA|SLC7A6_uc010cfc.1_RNA NM_001076785 NP_001070253 Q92536 YLAT2_HUMAN solute carrier family 7 (cationic amino acid 312 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|antiporter activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948) GCTGACCAGACGTTTGGCATG 0.502 NaN 0 0 0 0.00361 0 67 79 PRMT7 54496 broad.mit.edu 37 16 68389659 68389659 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:68389659G>C uc002evy.1 + 17 1960 c.1684G>C c.(1684-1686)GAG>CAG p.E562Q PRMT7_uc010vlg.1_Missense_Mutation_p.E512Q|PRMT7_uc002evz.1_Missense_Mutation_p.E334Q|PRMT7_uc010cfd.1_Missense_Mutation_p.E54Q NM_019023 NP_061896 Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 562 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding 0 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CAGGGAAGCTGAGCCCCACCC 0.677 NaN 0 0 0 0.006214 0 10 8 COG8 84342 broad.mit.edu 37 16 69368866 69368866 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:69368866G>C uc002ewy.2 - 3 1042 c.971C>G c.(970-972)TCA>TGA p.S324* COG8_uc002ewz.3_Nonsense_Mutation_p.S324* NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 324 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 CAGGAATTGTGAGACCTTCTG 0.592 NaN 0 0 0 0.005443 0 25 59 COG8 84342 broad.mit.edu 37 16 69370435 69370435 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:69370435C>T uc002ewy.2 - 2 629 c.558G>A c.(556-558)AGG>AGA p.R186R COG8_uc002ewz.3_Silent_p.R186R NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 186 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 AAGAGTATTTCCTCTCCAGTC 0.488 NaN 0 0 0 0.001368 0 9 36 COG8 84342 broad.mit.edu 37 16 69373450 69373450 + Silent SNP C C T rs142062440 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:69373450C>T uc002ewy.2 - 1 77 c.6G>A c.(4-6)GCG>GCA p.A2A COG8_uc002ewz.3_Silent_p.A2A|NIP7_uc002exa.2_5'Flank|NIP7_uc002exb.2_5'Flank NM_032382 NP_115758 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 2 protein transport Golgi membrane|Golgi transport complex ovary(1) 1 TCGCCGCGGTCGCCATCTTCC 0.622 NaN OREG0023907 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.008871 0 17 25 BANP 54971 broad.mit.edu 37 16 88017774 88017774 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:88017774C>G uc002fkr.2 + 4 468 c.244C>G c.(244-246)CTG>GTG p.L82V BANP_uc002fkp.2_Missense_Mutation_p.L91V|BANP_uc002fkq.2_Missense_Mutation_p.L91V|BANP_uc010vow.1_Missense_Mutation_p.L90V|BANP_uc002fks.3_Missense_Mutation_p.L90V|BANP_uc002fko.1_Translation_Start_Site|BANP_uc010vov.1_Missense_Mutation_p.L96V NM_079837 NP_524576 Q8N9N5 BANP_HUMAN BTG3 associated nuclear protein isoform b 83 Potential. cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 BRCA - Breast invasive adenocarcinoma(80;0.00551) AAAGCTGGATCTGGTCACGAA 0.527 NaN 0 0 0 0.000602 0 4 5 ANKRD11 29123 broad.mit.edu 37 16 89352493 89352493 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:89352493G>A uc002fmx.1 - 8 1307 c.846C>T c.(844-846)CTC>CTT p.L282L ANKRD11_uc002fmy.1_Silent_p.L282L|ANKRD11_uc002fnc.1_Silent_p.L282L|ANKRD11_uc002fnb.1_Silent_p.L239L NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 282 ANK 4. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGCCTAACAGGAGGTTCACCA 0.587 NaN 0 0 0 0.00361 0 68 74 SMYD4 114826 broad.mit.edu 37 17 1690794 1690794 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:1690794C>G uc002ftm.3 - 6 1810 c.1642G>C c.(1642-1644)GTG>CTG p.V548L SMYD4_uc002ftn.1_Missense_Mutation_p.V403L NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 548 SET. zinc ion binding skin(3)|kidney(2) 5 ATGAAGGACACGCTGGTGTTG 0.577 NaN 0 0 0 0.004672 0 3 18 CAMTA2 23125 broad.mit.edu 37 17 4876991 4876991 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:4876991C>T uc002gah.1 - 13 2198 c.2090G>A c.(2089-2091)TGG>TAG p.W697* CAMTA2_uc010cku.1_Nonsense_Mutation_p.W720*|CAMTA2_uc002gag.1_Nonsense_Mutation_p.W696*|CAMTA2_uc002gai.1_Nonsense_Mutation_p.W699*|CAMTA2_uc010ckv.1_Nonsense_Mutation_p.W344* NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 697 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 AGGACCCTTCCAGGTGGAGCG 0.612 NaN 0 0 0 0.012319 0 17 103 GPR172B 55065 broad.mit.edu 37 17 4937171 4937171 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:4937171C>G uc002gap.3 - 3 1326 c.613G>C c.(613-615)GTC>CTC p.V205L GPR172B_uc002gao.3_Missense_Mutation_p.V205L|GPR172B_uc010ckw.2_Missense_Mutation_p.V83L|GPR172B_uc010ckx.2_Missense_Mutation_p.V205L NM_001104577 NP_001098047 Q9NWF4 RFT_HUMAN G protein-coupled receptor 172B precursor 205 Helical; (Potential). integral to plasma membrane receptor activity|riboflavin transporter activity 0 GCTGAAGTGACCAGAAGGGCA 0.622 NaN 0 0 0 0.004878 0 30 189 C17orf74 201243 broad.mit.edu 37 17 7330189 7330189 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7330189C>T uc002ggw.2 + 3 952 c.879C>T c.(877-879)GTC>GTT p.V293V FGF11_uc010vtw.1_Intron NM_175734 NP_783861 Q0P670 CQ074_HUMAN hypothetical protein LOC201243 293 integral to membrane 0 Prostate(122;0.157) CCTCTTGGGTCCCCGTGGGGC 0.677 NaN 0 0 0 0.008871 0 18 102 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7578275G>A uc002gim.2 - 6 768 c.574C>T c.(574-576)CAG>TAG p.Q192* TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 192 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (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.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557 111 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 0.00361 0 87 8 DNAH2 146754 broad.mit.edu 37 17 7696168 7696168 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7696168G>A uc002giu.1 + 46 7353 c.7339G>A c.(7339-7341)GCA>ACA p.A2447T NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2447 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CAACATGTCCGCACAGGTGTG 0.647 NaN 0 0 0 0.000602 0 4 167 PER1 5187 broad.mit.edu 37 17 8045717 8045717 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:8045717C>T uc002gkd.2 - 21 3557 c.3319G>A c.(3319-3321)GAG>AAG p.E1107K PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1107 circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 gccccagcctcagcctcggAA 0.443 NaN T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 0 0 0 0.012213 0 30 1 PER1 5187 broad.mit.edu 37 17 8048196 8048196 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:8048196C>G uc002gkd.2 - 18 2572 c.2334G>C c.(2332-2334)CTG>CTC p.L778L PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Silent_p.L762L NM_002616 NP_002607 O15534 PER1_HUMAN period 1 778 CSNK1E binding domain (By similarity). circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CGGCCTTGGTCAGCCCCACTG 0.433 NaN T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 0 0 0 0.008871 0 19 2 RCVRN 5957 broad.mit.edu 37 17 9808346 9808346 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:9808346C>T uc002gme.1 - 1 339 c.152G>A c.(151-153)AGC>AAC p.S51N NM_002903 NP_002894 P35243 RECO_HUMAN recoverin 51 EF-hand 1. visual perception calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 GGCGTAGATGCTCTGGAACTG 0.602 NaN 0 0 0 0.001984 0 6 12 SUPT6H 6830 broad.mit.edu 37 17 27011877 27011877 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:27011877C>G uc002hby.2 + 19 2475 c.2385C>G c.(2383-2385)TTC>TTG p.F795L SUPT6H_uc010crt.2_Missense_Mutation_p.F795L NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 795 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) ACCCTGTGTTCTGCGCCCTGG 0.443 NaN 0 0 0 0.00361 0 93 42 ZNF207 7756 broad.mit.edu 37 17 30678846 30678846 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:30678846A>G uc002hhh.3 + 2 231 c.83A>G c.(82-84)CAG>CGG p.Q28R ZNF207_uc002hhj.3_Missense_Mutation_p.Q28R|ZNF207_uc002hhi.3_Missense_Mutation_p.Q28R|ZNF207_uc010csz.2_Missense_Mutation_p.Q31R|ZNF207_uc002hhk.1_Missense_Mutation_p.Q28R NM_003457 NP_003448 O43670 ZN207_HUMAN zinc finger protein 207 isoform a 28 C2H2-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) ATCCTTATTCAGCACCAAAAA 0.343 NaN 0 0 0 0.007835 0 38 47 GGNBP2 79893 broad.mit.edu 37 17 34937963 34937963 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:34937963G>A uc002hnb.2 + 9 1459 c.1210G>A c.(1210-1212)GAG>AAG p.E404K GGNBP2_uc002hna.2_Missense_Mutation_p.E404K|GGNBP2_uc002hnc.1_Missense_Mutation_p.E233K NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 404 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) AGTAAGCCAAGAGAAGGTAAT 0.279 NaN 0 0 0 0.004656 0 22 35 MLLT6 4302 broad.mit.edu 37 17 36875796 36875796 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:36875796C>T uc002hqi.3 + 13 1982 c.1969C>T c.(1969-1971)CGG>TGG p.R657W MLLT6_uc002hqj.2_Missense_Mutation_p.R92W|MLLT6_uc002hqk.3_5'UTR NM_005937 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia 657 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|prostate(1)|lung(1)|skin(1) 6 Breast(7;4.43e-21) CTGCAGCTTCCGGTGTCGGGG 0.657 NaN T MLL AL 0 0 0 0.010504 0 16 35 TCAP 8557 broad.mit.edu 37 17 37822334 37822334 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:37822334C>T uc002hsh.2 + 2 490 c.476C>T c.(475-477)TCC>TTC p.S159F PNMT_uc002hsi.1_5'Flank NM_003673 NP_003664 O15273 TELT_HUMAN telethonin 159 adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly cytosol|Z disc structural constituent of muscle|titin binding|titin Z domain binding 0 all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) CTGTCCCGCTCCATGTCCCAG 0.657 NaN 0 0 0 0.00361 0 129 166 GSDMA 284110 broad.mit.edu 37 17 38130640 38130640 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:38130640T>G uc002htl.1 + 9 984 c.866T>G c.(865-867)CTT>CGT p.L289R GSDMA_uc002htm.1_Missense_Mutation_p.L289R NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN gasdermin 1 289 apoptosis|induction of apoptosis perinuclear region of cytoplasm 0 CTCAGCAAACTTCTAGGGAAG 0.512 NaN 0 0 0 0.004672 0 3 20 KLHL10 317719 broad.mit.edu 37 17 40004197 40004197 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:40004197G>C uc010cxr.2 + 5 1607 c.1465G>C c.(1465-1467)GAT>CAT p.D489H KLHL10_uc010wfw.1_Missense_Mutation_p.D401H NM_152467 NP_689680 Q6JEL2 KLH10_HUMAN kelch-like 10 489 Kelch 5. cytoplasm ovary(1)|lung(1)|breast(1)|central_nervous_system(1) 4 Breast(137;0.000162) AGGTGGCTTTGATGGAGCTAA 0.483 NaN 0 0 0 0.00361 0 86 113 EFCAB3 146779 broad.mit.edu 37 17 60493508 60493508 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:60493508A>G uc002izu.1 + 10 1213 c.1135A>G c.(1135-1137)ACA>GCA p.T379A EFCAB3_uc010wpc.1_Missense_Mutation_p.T431A NM_173503 NP_775774 Q8N7B9 EFCB3_HUMAN EF-hand calcium binding domain 3 isoform b 379 calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(2;2.27e-11) TTCTACTTATACATGGTCCTG 0.408 NaN 0 0 0 0.00361 0 46 54 TACO1 51204 broad.mit.edu 37 17 61678640 61678640 + Silent SNP C C T rs141350830 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:61678640C>T uc002jbd.2 + 1 398 c.198C>T c.(196-198)GTC>GTT p.V66V NM_016360 NP_057444 Q9BSH4 TACO1_HUMAN translational activator of mitochondrially 66 regulation of translation mitochondrion 0 GGTCCAAAGTCAGGCACATCA 0.637 NaN 0 0 0 0.00632 0 25 36 SMURF2 64750 broad.mit.edu 37 17 62543775 62543775 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:62543775G>C uc002jep.1 - 17 2402 c.2014C>G c.(2014-2016)CTT>GTT p.L672V SMURF2_uc002jeq.1_Missense_Mutation_p.L431V|SMURF2_uc002jer.1_Missense_Mutation_p.L431V NM_022739 NP_073576 Q9HAU4 SMUF2_HUMAN SMAD specific E3 ubiquitin protein ligase 2 672 HECT. BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex identical protein binding|SMAD binding|ubiquitin-protein ligase activity skin(3)|lung(1) 4 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;9.88e-12) ACAAACTGAAGCAATCTTGCT 0.517 NaN 0 0 0 0.00361 0 101 106 FAM20A 54757 broad.mit.edu 37 17 66535515 66535515 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:66535515C>T uc002jho.2 - 10 1612 c.1324G>A c.(1324-1326)GAA>AAA p.E442K FAM20A_uc010wqp.1_Missense_Mutation_p.E304K|PRKAR1A_uc002jhm.2_Intron|FAM20A_uc002jhn.2_Missense_Mutation_p.E153K NM_017565 NP_060035 Q96MK3 FA20A_HUMAN family with sequence similarity 20, member A 442 extracellular region 0 Breast(10;1.64e-13) ATGGAGATTTCATCATGGGAG 0.527 NaN 0 0 0 0.00361 0 36 159 SDK2 54549 broad.mit.edu 37 17 71391400 71391400 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:71391400G>A uc010dfm.2 - 25 3486 c.3486C>T c.(3484-3486)ATC>ATT p.I1162I SDK2_uc002jjt.3_Silent_p.I321I|SDK2_uc010dfn.2_Silent_p.I841I NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1162 Extracellular (Potential).|Fibronectin type-III 6. cell adhesion integral to membrane ovary(2) 2 CCAGGTCCTCGATGGTGTAGT 0.652 NaN 0 0 0 0.010729 0 11 59 FDXR 2232 broad.mit.edu 37 17 72860373 72860373 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:72860373G>A uc002jly.2 - 9 986 c.899C>T c.(898-900)TCC>TTC p.S300F FDXR_uc010wri.1_Missense_Mutation_p.S248F|FDXR_uc010wrj.1_Missense_Mutation_p.S298F|FDXR_uc002jlw.2_Missense_Mutation_p.S57F|FDXR_uc002jlx.2_Missense_Mutation_p.S306F|FDXR_uc002jmc.2_Missense_Mutation_p.S272F|FDXR_uc010wrk.1_Missense_Mutation_p.S331F|FDXR_uc010wrl.1_Missense_Mutation_p.S343F|FDXR_uc002jma.2_Missense_Mutation_p.S301F|FDXR_uc010wrm.1_Missense_Mutation_p.S260F|FDXR_uc002jlz.2_Missense_Mutation_p.S292F|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 300 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) CCAGGCACGGGAGGCCGATGC 0.692 NaN 0 0 0 0.00623 0 35 41 CDK3 1018 broad.mit.edu 37 17 73998377 73998377 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:73998377C>T uc010dgt.2 + 5 440 c.364C>T c.(364-366)CGG>TGG p.R122W CDK3_uc002jqg.3_Missense_Mutation_p.R150W NM_001258 NP_001249 Q00526 CDK3_HUMAN cyclin-dependent kinase 3 122 Protein kinase. cell division|cell proliferation|mitosis ATP binding|cyclin-dependent protein kinase activity central_nervous_system(1) 1 CCACTCACATCGGGTCATCCA 0.627 NaN 0 0 0 0.00361 0 77 82 UBE2O 63893 broad.mit.edu 37 17 74396299 74396299 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:74396299C>T uc002jrm.3 - 8 1149 c.1084G>A c.(1084-1086)GAG>AAG p.E362K UBE2O_uc002jrn.3_Missense_Mutation_p.E362K|UBE2O_uc002jrl.3_5'Flank NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 362 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 TTGGCTGGCTCTACCTTGGCT 0.582 NaN 0 0 0 0.00361 0 53 84 NPTX1 4884 broad.mit.edu 37 17 78449360 78449360 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:78449360G>T uc002jyp.1 - 2 761 c.603C>A c.(601-603)ATC>ATA p.I201I NM_002522 NP_002513 Q15818 NPTX1_HUMAN neuronal pentraxin I precursor 201 central nervous system development|synaptic transmission|transport transport vesicle metal ion binding 0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) GGGCGGTCTCGATCTTGACCC 0.667 NaN 1 0 1.90571e-15 0.004289 2.01907e-15 32 53 TMEM105 284186 broad.mit.edu 37 17 79287597 79287597 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:79287597G>A uc002kad.1 - 3 794 c.244C>T c.(244-246)CGA>TGA p.R82* NM_178520 NP_848615 Q8N8V8 TM105_HUMAN transmembrane protein 105 82 integral to membrane ovary(1) 1 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892) TCATGTCTTCGCCTTCTTATC 0.662 NaN 0 0 0 0.00361 0 133 116 CEP192 55125 broad.mit.edu 37 18 13092445 13092445 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:13092445C>T uc010xac.1 + 34 6253 c.6173C>T c.(6172-6174)TCA>TTA p.S2058L CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Missense_Mutation_p.S1583L|CEP192_uc002kru.2_RNA|CEP192_uc002krv.2_Missense_Mutation_p.S480L|CEP192_uc002krw.2_Missense_Mutation_p.S207L|CEP192_uc002krx.2_Missense_Mutation_p.S62L|CEP192_uc002kry.2_RNA NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 2058 ovary(4)|pancreas(1) 5 ATTATACTTTCAGTAATTGGA 0.333 NaN 0 0 0 0.010729 0 12 49 ROCK1 6093 broad.mit.edu 37 18 18625257 18625257 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:18625257G>A uc002kte.2 - 5 1527 c.586C>T c.(586-588)CAC>TAC p.H196Y NM_005406 NP_005397 Q13464 ROCK1_HUMAN Rho-associated, coiled-coil containing protein 196 Protein kinase. actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction centriole|cytosol|Golgi membrane ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity lung(2)|breast(2)|central_nervous_system(1) 5 Melanoma(1;0.165) CTTTACCTGTGAATAAAACCC 0.343 NaN 0 0 0 0.00308 0 6 31 ZNF521 25925 broad.mit.edu 37 18 22806745 22806745 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:22806745C>T uc002kvk.2 - 4 1384 c.1137G>A c.(1135-1137)AAG>AAA p.K379K ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.K379K|ZNF521_uc002kvl.2_Silent_p.K159K NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 379 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCCCTCGACTCTTTGGGATTG 0.532 NaN T PAX5 ALL 0 0 0 0.007291 0 20 77 SS18 6760 broad.mit.edu 37 18 23612474 23612474 + Silent SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:23612474A>T uc002kvm.2 - 10 1197 c.1119T>A c.(1117-1119)GGT>GGA p.G373G SS18_uc002kvn.2_Silent_p.G342G|SS18_uc010xbf.1_Silent_p.G291G|SS18_uc010xbg.1_Silent_p.G290G|SS18_uc010xbh.1_Silent_p.G290G|SS18_uc010xbi.1_Silent_p.G350G NM_001007559 NP_001007560 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 373 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX1(1169)|SS18/SSX2(702)|SS18/SSX4(12) soft_tissue(1883)|ovary(1) 1884 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GATACTGAGGACCTGGACCAC 0.493 NaN T SSX1| SSX2 synovial sarcoma 0 0 0 0.003954 0 22 57 GALNT1 2589 broad.mit.edu 37 18 33243615 33243615 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:33243615C>T uc010dmu.2 + 3 216 c.163C>T c.(163-165)CAT>TAT p.H55Y GALNT1_uc002kyz.3_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.H55Y|GALNT1_uc002kzb.2_Missense_Mutation_p.H55Y NM_020474 NP_065207 Q10472 GALT1_HUMAN polypeptide N-acetylgalactosaminyltransferase 1 55 Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2) 2 ACAAAAGCCTCATGAAGGTCC 0.328 NaN 0 0 0 0.003163 0 12 13 KIAA0427 9811 broad.mit.edu 37 18 46287980 46287980 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:46287980G>A uc002ldc.2 + 9 1576 c.1291G>A c.(1291-1293)GCT>ACT p.A431T KIAA0427_uc002ldd.2_Missense_Mutation_p.A433T|KIAA0427_uc002lde.3_Missense_Mutation_p.A60T NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 431 MIF4G. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 CGCCTTCACCGCTGCCAAGCT 0.617 NaN 0 0 0 0.007835 0 35 100 LIPG 9388 broad.mit.edu 37 18 47101864 47101864 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:47101864C>T uc002ldv.2 + 5 949 c.697C>T c.(697-699)CAG>TAG p.Q233* LIPG_uc002ldu.1_Nonsense_Mutation_p.Q233*|LIPG_uc010xdh.1_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 233 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CATTGGTATTCAGATGCCTGT 0.532 NaN 0 0 0 0.007835 0 37 51 CCDC11 220136 broad.mit.edu 37 18 47777950 47777950 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:47777950C>G uc002lee.2 - 4 769 c.678G>C c.(676-678)CTG>CTC p.L226L NM_145020 NP_659457 Q96M91 CCD11_HUMAN coiled-coil domain containing 11 226 Potential. ovary(1)|pancreas(1)|skin(1) 3 STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164) TGTTCTCCATCAGCTCTTTCT 0.552 NaN 0 0 0 0.00623 0 36 63 SOCS6 9306 broad.mit.edu 37 18 67992252 67992252 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr18:67992252G>A uc002lkr.1 + 2 664 c.348G>A c.(346-348)GTG>GTA p.V116V SOCS6_uc010dqq.2_Silent_p.V116V NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 116 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TTAAAGACGTGAGAGCTCAGA 0.597 NaN 0 0 0 0.010504 0 19 54 SHC2 25759 broad.mit.edu 37 19 418997 418997 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:418997C>G uc002loq.3 - 12 1680 c.1680G>C c.(1678-1680)CAG>CAC p.Q560H SHC2_uc002lop.3_Missense_Mutation_p.Q301H NM_012435 NP_036567 P98077 SHC2_HUMAN SHC (Src homology 2 domain containing) 560 SH2. insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol 0 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) GCTGCCCGTTCTGCAGGTGGT 0.677 NaN 0 0 0 0.001168 0 6 7 POLRMT 5442 broad.mit.edu 37 19 619263 619263 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:619263G>A uc002lpf.1 - 14 3156 c.3100C>T c.(3100-3102)CGC>TGC p.R1034C NM_005035 NP_005026 O00411 RPOM_HUMAN mitochondrial DNA-directed RNA polymerase 1034 Mediates interaction with TEFM. transcription initiation from mitochondrial promoter mitochondrial nucleoid DNA binding|DNA-directed RNA polymerase activity|protein binding ovary(1)|pancreas(1) 2 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) AAGACCTGGCGTACGAGATAG 0.637 NaN 0 0 0 0.000602 0 4 114 CNN2 1265 broad.mit.edu 37 19 1037770 1037770 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:1037770G>C uc002lqu.2 + 7 1164 c.801G>C c.(799-801)CAG>CAC p.Q267H ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Missense_Mutation_p.Q228H|CNN2_uc010xgb.1_Missense_Mutation_p.Q256H|CNN2_uc010xgc.1_Missense_Mutation_p.Q288H|ABCA7_uc010dsa.2_5'Flank NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 267 Calponin-like 3. actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGGCCGGCAGATATATGACC 0.662 NaN 0 0 0 0.00361 0 41 69 MUM1 84939 broad.mit.edu 37 19 1360523 1360523 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:1360523G>C uc010xgm.1 + 4 672 c.603G>C c.(601-603)GAG>GAC p.E201D MUM1_uc010dsi.2_Missense_Mutation_p.E133D|MUM1_uc002lrz.2_Missense_Mutation_p.E202D|MUM1_uc002lsb.2_Missense_Mutation_p.E133D|MUM1_uc002lsc.1_Missense_Mutation_p.E133D Q2TAK8 MUM1_HUMAN SubName: Full=MUM1 protein; 201 chromatin organization|DNA repair nucleus nucleosome binding|protein binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|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) CCCAAGATGAGAGTGGGTCCA 0.537 NaN OREG0025088 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 9 15 LRRC8E 80131 broad.mit.edu 37 19 7964521 7964521 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:7964521C>T uc002mir.2 + 3 1215 c.1114C>T c.(1114-1116)CAG>TAG p.Q372* NM_025061 NP_079337 Q6NSJ5 LRC8E_HUMAN leucine rich repeat containing 8 family, member 372 integral to membrane lung(1)|pancreas(1) 2 CCTCATCGATCAGTACGACTC 0.572 NaN 0 0 0 0.010504 0 17 49 TIMM44 10469 broad.mit.edu 37 19 7992542 7992542 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:7992542C>T uc002miz.2 - 12 1241 c.1239G>A c.(1237-1239)CCG>CCA p.P413P TIMM44_uc002mja.2_Silent_p.P153P|CTXN1_uc002miy.3_5'Flank NM_006351 NP_006342 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 413 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity ovary(1) 1 CCTCACTCACCGGGTCACCCT 0.627 NaN 0 0 0 0.00361 0 106 88 DNM2 1785 broad.mit.edu 37 19 10934516 10934516 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:10934516G>A uc002mps.1 + 17 1998 c.1834G>A c.(1834-1836)GAC>AAC p.D612N DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.D612N|DNM2_uc002mpv.1_Missense_Mutation_p.D608N|DNM2_uc002mpu.1_Missense_Mutation_p.D608N|DNM2_uc010dxl.1_Missense_Mutation_p.D612N|DNM2_uc002mpw.2_Missense_Mutation_p.D341N|DNM2_uc002mpx.1_5'UTR NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 612 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CTCCCAGGAAGACGTGGACAG 0.667 NaN 0 0 0 0.00361 0 39 52 DNM2 1785 broad.mit.edu 37 19 10934530 10934530 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:10934530G>C uc002mps.1 + 17 2012 c.1848G>C c.(1846-1848)TGG>TGC p.W616C DNM2_uc010dxk.2_Intron|DNM2_uc002mpt.1_Missense_Mutation_p.W616C|DNM2_uc002mpv.1_Missense_Mutation_p.W612C|DNM2_uc002mpu.1_Missense_Mutation_p.W612C|DNM2_uc010dxl.1_Missense_Mutation_p.W616C|DNM2_uc002mpw.2_Missense_Mutation_p.W345C|DNM2_uc002mpx.1_5'UTR NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 616 PH. G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) TGGACAGCTGGAAGGCCTCGT 0.657 NaN 0 0 0 0.00361 0 30 49 ZNF442 79973 broad.mit.edu 37 19 12474396 12474396 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:12474396G>C uc002mtr.1 - 3 661 c.50C>G c.(49-51)TCT>TGT p.S17C ZNF442_uc010xmk.1_Intron NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 ATTAGTCTGAGAGTCAGGAAG 0.488 NaN 0 0 0 0.004482 0 8 140 MAN2B1 4125 broad.mit.edu 37 19 12767436 12767436 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:12767436G>A uc002mub.2 - 13 1669 c.1593C>T c.(1591-1593)AGC>AGT p.S531S MAN2B1_uc010dyv.1_Silent_p.S530S NM_000528 NP_000519 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 531 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding ovary(4)|central_nervous_system(2) 6 AAACGCCTTCGCTGACCGGCA 0.602 NaN 0 0 0 0.00361 0 106 68 CASP14 23581 broad.mit.edu 37 19 15164702 15164702 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:15164702G>T uc010dzv.1 + 4 644 c.336G>T c.(334-336)CTG>CTT p.L112L CASP14_uc002naf.2_Silent_p.L112L NM_012114 NP_036246 P31944 CASPE_HUMAN caspase 14 precursor 112 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity skin(2)|ovary(1)|lung(1) 4 TCGAGGCCCTGAACAACAAGA 0.562 NaN 1 0 3.11337e-16 0.002836 3.31456e-16 29 48 CHERP 10523 broad.mit.edu 37 19 16652774 16652774 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:16652774C>G uc002nei.1 - 2 180 c.106G>C c.(106-108)GAG>CAG p.E36Q MED26_uc002nee.2_Intron|CHERP_uc002nej.2_Missense_Mutation_p.E4Q NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 36 SURP motif. cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 TTCTGCTTCTCCATAGTCATC 0.532 NaN 0 0 0 0.00278 0 21 40 CHERP 10523 broad.mit.edu 37 19 16653168 16653168 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:16653168C>G uc002nei.1 - 1 96 c.22G>C c.(22-24)GAT>CAT p.D8H MED26_uc002nee.2_Intron|CHERP_uc002nej.2_5'Flank NM_006387 NP_006378 Q8IWX8 CHERP_HUMAN calcium homeostasis endoplasmic reticulum 8 cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing endoplasmic reticulum|perinuclear region of cytoplasm RNA binding ovary(2) 2 GTCTCACCATCGGGGGGCAGC 0.726 NaN 0 0 0 0.004482 0 3 14 MAP1S 55201 broad.mit.edu 37 19 17831750 17831750 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:17831750C>T uc002nhe.1 + 2 133 c.124C>T c.(124-126)CGG>TGG p.R42W MAP1S_uc010eaz.1_Intron|MAP1S_uc010eba.1_Missense_Mutation_p.R42W|MAP1S_uc002nhf.1_Intron|MAP1S_uc010xpv.1_Missense_Mutation_p.R16W NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 42 Necessary for the microtubule-organizing center localization. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 ACCAGGCATCCGGTCTTGGGA 0.582 NaN 0 0 0 0.010729 0 8 128 ZNF253 56242 broad.mit.edu 37 19 19990934 19990934 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:19990934G>A uc002noj.2 + 3 297 c.205G>A c.(205-207)GAG>AAG p.E69K ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 69 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGAAAGACATGAGATGATTGC 0.373 NaN 0 0 0 0.001984 0 7 33 ZNF253 56242 broad.mit.edu 37 19 19990939 19990939 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:19990939G>A uc002noj.2 + 3 302 c.210G>A c.(208-210)ATG>ATA p.M70I ZNF253_uc002nok.2_Intron|ZNF253_uc002nol.2_Intron NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 70 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GACATGAGATGATTGCCAAAC 0.373 NaN 0 0 0 0.001168 0 6 33 ZNF493 284443 broad.mit.edu 37 19 21606279 21606279 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21606279C>T uc002npx.2 + 2 714 c.434C>T c.(433-435)TCT>TTT p.S145F ZNF493_uc002npw.2_Missense_Mutation_p.S273F|ZNF493_uc002npy.2_Missense_Mutation_p.S145F NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 145 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGTGGCACATCTTTCTACCAA 0.348 NaN 0 0 0 0.00499 0 16 3 ZNF493 284443 broad.mit.edu 37 19 21607244 21607244 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21607244C>T uc002npx.2 + 2 1679 c.1399C>T c.(1399-1401)CAT>TAT p.H467Y ZNF493_uc002npw.2_Missense_Mutation_p.H595Y|ZNF493_uc002npy.2_Missense_Mutation_p.H467Y NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 467 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAAGATAATTCATACTGATAA 0.333 NaN 0 0 0 0.00308 0 7 1 ZNF493 284443 broad.mit.edu 37 19 21607722 21607722 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21607722C>T uc002npx.2 + 2 2157 c.1877C>T c.(1876-1878)TCA>TTA p.S626L ZNF493_uc002npw.2_Missense_Mutation_p.S754L|ZNF493_uc002npy.2_Missense_Mutation_p.S626L NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 626 C2H2-type 22. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 AGGCGGTCTTCACATCTTAGT 0.373 NaN 0 0 0 0.004482 0 9 4 ZNF493 284443 broad.mit.edu 37 19 21607760 21607760 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:21607760C>T uc002npx.2 + 2 2195 c.1915C>T c.(1915-1917)CAT>TAT p.H639Y ZNF493_uc002npw.2_Missense_Mutation_p.H767Y|ZNF493_uc002npy.2_Missense_Mutation_p.H639Y NM_175910 NP_787106 Q6ZR52 ZN493_HUMAN zinc finger protein 493 isoform 1 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TATTGGAATTCATACTGAAGA 0.378 NaN 0 0 0 0.00245 0 12 6 ZNF91 7644 broad.mit.edu 37 19 23544994 23544994 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:23544994C>G uc002nre.2 - 4 900 c.787G>C c.(787-789)GAG>CAG p.E263Q ZNF91_uc010xrj.1_Missense_Mutation_p.E231Q NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 263 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) TAGATTTTCTCTTTAGCACAG 0.378 NaN 0 0 0 0.002836 0 29 42 ZNF536 9745 broad.mit.edu 37 19 30934886 30934886 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:30934886C>T uc002nsu.1 + 2 555 c.417C>T c.(415-417)TTC>TTT p.F139F ZNF536_uc010edd.1_Silent_p.F139F NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 139 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.F139F(1) ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCAAGCGCTTCCGCTTCAACA 0.637 NaN 0 0 0 0.00361 0 207 50 GPI 2821 broad.mit.edu 37 19 34884965 34884965 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:34884965C>T uc002nvg.1 + 12 1159 c.1056C>T c.(1054-1056)TTC>TTT p.F352F GPI_uc002nvf.2_Silent_p.F391F|GPI_uc010xrv.1_Silent_p.F363F|GPI_uc010xrw.1_Silent_p.F324F|GPI_uc010edl.1_Silent_p.F352F|GPI_uc002nvi.1_Silent_p.F15F NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 352 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) CTGCGTACTTCCAGCAGGTAC 0.577 NaN 0 0 0 0.00361 0 42 50 ZNF585B 92285 broad.mit.edu 37 19 37676214 37676214 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:37676214C>G uc002ofq.2 - 5 2479 c.2225G>C c.(2224-2226)GGA>GCA p.G742A uc002ofp.1_5'Flank|ZNF585B_uc002ofr.1_Missense_Mutation_p.G556A NM_152279 NP_689492 Q52M93 Z585B_HUMAN zinc finger protein 585B 742 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GGGTTTGTCTCCAGTGTGTGT 0.478 NaN 0 0 0 0.001368 0 10 203 SIPA1L3 23094 broad.mit.edu 37 19 38633219 38633219 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:38633219C>T uc002ohk.2 + 12 3911 c.3402C>T c.(3400-3402)GTC>GTT p.V1134V NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 1134 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CTAGGCCTGTCAGCTTCCCAG 0.542 NaN OREG0025445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 337 316 RYR1 6261 broad.mit.edu 37 19 39055650 39055650 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:39055650G>A uc002oit.2 + 91 12806 c.12676G>A c.(12676-12678)GAG>AAG p.E4226K RYR1_uc002oiu.2_Missense_Mutation_p.E4221K|RYR1_uc002oiv.1_Missense_Mutation_p.E1135K NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 4226 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) CGAGGGCGGCGAGGCTGAGAA 0.642 NaN 0 0 0 0.003163 0 11 20 ZNF780A 284323 broad.mit.edu 37 19 40580552 40580552 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:40580552T>G uc002omy.2 - 6 2022 c.1797A>C c.(1795-1797)CAA>CAC p.Q599H ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.Q599H|ZNF780A_uc010xvh.1_Missense_Mutation_p.Q600H NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 599 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTCGAATAAGTTGCATATGAA 0.403 NaN 0 0 0 0.00308 0 6 211 ZNF780A 284323 broad.mit.edu 37 19 40580582 40580582 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:40580582C>T uc002omy.2 - 6 1992 c.1767G>A c.(1765-1767)GAG>GAA p.E589E ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Silent_p.E589E|ZNF780A_uc010xvh.1_Silent_p.E590E NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 589 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) CTTTCCCACACTCCTTACATT 0.393 NaN 0 0 0 0.000602 0 4 251 CYP2A6 1548 broad.mit.edu 37 19 41351241 41351241 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:41351241T>C uc002opl.3 - 7 1140 c.1119A>G c.(1117-1119)AGA>AGG p.R373R CYP2A6_uc010ehe.1_Silent_p.R169R NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 373 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) CCTTTTTGACTCTGCGGGCCA 0.572 NaN 0 0 0 0.008291 0 5 270 CIC 23152 broad.mit.edu 37 19 42796294 42796294 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:42796294G>C uc002otf.1 + 12 2983 c.2943G>C c.(2941-2943)CTG>CTC p.L981L NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 981 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) TGCCGCCCCTGAGCCCAGCCA 0.652 NaN T DUX4 soft tissue sarcoma 0 0 0 0.00361 0 80 64 ZNF230 7773 broad.mit.edu 37 19 44514657 44514657 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:44514657G>C uc002oyb.1 + 5 717 c.466G>C c.(466-468)GAT>CAT p.D156H NM_006300 NP_006291 Q9UIE0 ZN230_HUMAN zinc finger protein 230 156 KRNB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TGCCATCTTTGATCCTCCTCA 0.453 NaN 0 0 0 0.00361 0 79 117 ZNF223 7766 broad.mit.edu 37 19 44571265 44571265 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:44571265C>G uc002oyf.1 + 5 1537 c.1284C>G c.(1282-1284)TTC>TTG p.F428L ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 428 C2H2-type 10; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) AAAAACCATTCAAATGTGAGG 0.408 NaN 0 0 0 0.00361 0 60 66 CEACAM19 56971 broad.mit.edu 37 19 45175238 45175238 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:45175238C>T uc002ozo.3 + 1 515 c.35C>T c.(34-36)TCA>TTA p.S12L CEACAM19_uc002ozp.3_Missense_Mutation_p.S12L NM_020219 NP_064604 Q7Z692 CEA19_HUMAN carcinoembryonic antigen-related cell adhesion 12 integral to membrane 0 Lung NSC(12;0.00308)|all_lung(12;0.00806) Prostate(69;0.0376) GGCTGCTTCTCAAAGAGCCTC 0.562 NaN 0 0 0 0.00499 0 12 17 GIPR 2696 broad.mit.edu 37 19 46178078 46178078 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:46178078G>A uc002pcu.1 + 7 726 c.627G>A c.(625-627)TGG>TGA p.W209* GIPR_uc002pct.1_Nonsense_Mutation_p.W209*|GIPR_uc010xxp.1_Nonsense_Mutation_p.W173*|GIPR_uc010xxq.1_RNA|MIR642_hsa-mir-642|MI0003657_5'Flank NM_000164 NP_000155 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 209 Extracellular (Potential). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TTGCGCTGTGGAACCAGGTGG 0.577 NaN 0 0 0 0.004656 0 20 61 TULP2 7288 broad.mit.edu 37 19 49392787 49392787 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:49392787C>T uc002pkz.2 - 7 767 c.616G>A c.(616-618)GAA>AAA p.E206K NM_003323 NP_003314 O00295 TULP2_HUMAN tubby like protein 2 206 visual perception cytoplasm|extracellular region ovary(1)|kidney(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;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234) GCCAAGTTTTCATATACACAG 0.502 NaN 0 0 0 0.00361 0 65 135 ZNF766 90321 broad.mit.edu 37 19 52785369 52785369 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:52785369C>T uc002pyr.1 + 2 67 c.24C>T c.(22-24)CAC>CAT p.H8H ZNF766_uc002pys.1_Silent_p.H8H|ZNF766_uc002pyt.1_Silent_p.H23H NM_001010851 NP_001010851 Q5HY98 ZN766_HUMAN zinc finger protein 766 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) TTTAGGGACACTTGACATTCA 0.438 NaN 0 0 0 0.00361 0 147 163 ZNF480 147657 broad.mit.edu 37 19 52824897 52824897 + Missense_Mutation SNP T T A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:52824897T>A uc010ydl.1 + 5 464 c.394T>A c.(394-396)TTT>ATT p.F132I ZNF480_uc002pyv.2_Missense_Mutation_p.F55I|ZNF480_uc010ydm.1_Missense_Mutation_p.F89I|ZNF480_uc010epn.2_5'UTR|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) TGGAGTATCCTTTCACTTACA 0.378 NaN 0 0 0 0.006122 0 14 78 ZNF761 388561 broad.mit.edu 37 19 53959484 53959484 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:53959484G>C uc010eqp.2 + 7 2181 c.1723G>C c.(1723-1725)GAG>CAG p.E575Q ZNF761_uc010ydy.1_Missense_Mutation_p.E521Q|ZNF761_uc002qbt.1_Missense_Mutation_p.E521Q NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) TCATAGTGGAGAGAACCCTTA 0.383 NaN 0 0 0 0.010729 0 11 91 USP29 57663 broad.mit.edu 37 19 57642777 57642777 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:57642777G>A uc002qny.2 + 4 3090 c.2734G>A c.(2734-2736)GAA>AAA p.E912K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 912 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCTCAGGGGGAATACGAAGG 0.468 NaN 0 0 0 0.00361 0 76 92 ZNF544 27300 broad.mit.edu 37 19 58772798 58772799 + Missense_Mutation DNP GG GG AT TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:58772798_58772799GG>AT uc010euo.2 + 7 1300_1301 c.826_827GG>AT c.(826-828)GGA>ATA p.G276I ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.G248I|ZNF544_uc010yhy.1_Missense_Mutation_p.G248I|ZNF544_uc002qrt.3_Missense_Mutation_p.G134I|ZNF544_uc002qru.3_Missense_Mutation_p.G134I|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 276 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) TAAGGATTATGGAAACCTCTTC 0.411 NaN 0 0 0 0.004672 0 13 82 LAPTM4A 9741 broad.mit.edu 37 2 20251207 20251207 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:20251207G>C uc002rdm.2 - 1 583 c.75C>G c.(73-75)GTC>GTG p.V25V LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Silent_p.V25V NM_014713 NP_055528 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 25 transport endomembrane system|Golgi apparatus|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCGGTGCGGACATGGCAAC 0.667 NaN 0 0 0 0.002299 0 17 16 LAPTM4A 9741 broad.mit.edu 37 2 20251240 20251240 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:20251240G>A uc002rdm.2 - 1 550 c.42C>T c.(40-42)TTC>TTT p.F14F LAPTM4A_uc002rdn.2_5'UTR|LAPTM4A_uc010yjx.1_Silent_p.F14F NM_014713 NP_055528 Q15012 LAP4A_HUMAN lysosomal protein transmembrane 4 alpha 14 transport endomembrane system|Golgi apparatus|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGTGCTGTAGAACCGGTCAC 0.642 NaN 0 0 0 0.00499 0 13 15 SDC1 6382 broad.mit.edu 37 2 20405149 20405149 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:20405149C>T uc002rdo.1 - 2 402 c.103G>A c.(103-105)GAT>AAT p.D35N SDC1_uc002rdp.1_Missense_Mutation_p.D35N|SDC1_uc010exv.2_Missense_Mutation_p.D35N|SDC1_uc010exw.1_RNA NM_002997 NP_002988 P18827 SDC1_HUMAN syndecan 1 precursor 35 Extracellular (Potential). lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development cytoplasm|extracellular region|focal adhesion|integral to plasma membrane cytoskeletal protein binding|protein C-terminus binding ovary(4)|skin(1) 5 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) OV - Ovarian serous cystadenocarcinoma(76;0.221) CCAGAGCCATCTTGATCTTCA 0.557 NaN 0 0 0 0.00361 0 50 114 ASXL2 55252 broad.mit.edu 37 2 25990551 25990551 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:25990551G>A uc002rgs.2 - 7 897 c.676C>T c.(676-678)CAA>TAA p.Q226* ASXL2_uc002rgt.1_5'UTR NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 226 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTGAGTTTTGAGGGCTGCCT 0.418 NaN 0 0 0 0.00361 0 77 12 TMEM214 54867 broad.mit.edu 37 2 27260564 27260564 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:27260564G>A uc002ria.3 + 9 1256 c.1146G>A c.(1144-1146)AAG>AAA p.K382K TMEM214_uc010yle.1_RNA|TMEM214_uc002rib.3_Silent_p.K337K NM_017727 NP_060197 Q6NUQ4 TM214_HUMAN transmembrane protein 214 isoform 1 382 integral to membrane protein binding 0 CTGAGATGAAGAAAGAGGTGA 0.547 NaN 0 0 0 0.004656 0 23 98 EIF2AK2 5610 broad.mit.edu 37 2 37366873 37366873 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:37366873C>T uc010ynh.1 - 6 974 c.417G>A c.(415-417)CAG>CAA p.Q139Q EIF2AK2_uc010fab.1_Silent_p.Q139Q|EIF2AK2_uc010yng.1_Silent_p.Q139Q|EIF2AK2_uc010fac.2_Silent_p.Q139Q|EIF2AK2_uc010fad.2_Silent_p.Q139Q NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 139 DRBM 2. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) TATATTCTTTCTGTCCCATTT 0.323 NaN 0 0 0 0.006214 0 8 41 SOCS5 9655 broad.mit.edu 37 2 46986049 46986049 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:46986049C>T uc002rvf.2 + 2 544 c.380C>T c.(379-381)TCC>TTC p.S127F SOCS5_uc010yoe.1_Missense_Mutation_p.S96F|SOCS5_uc002rvg.2_Missense_Mutation_p.S127F NM_014011 NP_054730 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 127 cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth ovary(1)|lung(1)|central_nervous_system(1) 3 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) AAAAAACATTCCTGTTCTACA 0.443 NaN 0 0 0 0.007413 0 18 37 FOXN2 3344 broad.mit.edu 37 2 48573386 48573386 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:48573386G>A uc002rwh.1 + 3 348 c.33G>A c.(31-33)AAG>AAA p.K11K NM_002158 NP_002149 P32314 FOXN2_HUMAN T-cell leukemia virus enhancer factor 11 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) CTCCAGATAAGAGAGCTGAAA 0.423 NaN 0 0 0 0.00361 0 76 15 SPTBN1 6711 broad.mit.edu 37 2 54858547 54858547 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:54858547G>A uc002rxu.2 + 16 3612 c.3363G>A c.(3361-3363)ATG>ATA p.M1121I SPTBN1_uc002rxx.2_Missense_Mutation_p.M1108I NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1121 Spectrin 8. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) ACCAGAAGATGAGGGACATGG 0.587 NaN 0 0 0 0.00361 0 75 130 CCDC88A 55704 broad.mit.edu 37 2 55523009 55523009 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:55523009G>A uc002ryv.2 - 31 6114 c.5272C>T c.(5272-5274)CGA>TGA p.R1758* CCDC88A_uc010yoz.1_Nonsense_Mutation_p.R1731*|CCDC88A_uc010ypa.1_Intron|CCDC88A_uc002ryt.2_Nonsense_Mutation_p.R49*|CCDC88A_uc010fbw.2_Nonsense_Mutation_p.R260*|CCDC88A_uc002ryu.2_Nonsense_Mutation_p.R1013*|CCDC88A_uc002rys.2_Nonsense_Mutation_p.R716*|CCDC88A_uc002ryw.2_Nonsense_Mutation_p.R1042*|CCDC88A_uc010fby.1_Nonsense_Mutation_p.R610* NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 1759 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 TCAGTTTTTCGAGGACCAGGT 0.438 NaN 0 0 0 0.00874 0 36 43 SLC1A4 6509 broad.mit.edu 37 2 65217170 65217170 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:65217170C>T uc010yqa.1 + 1 715 c.393C>T c.(391-393)CTC>CTT p.L131L SLC1A4_uc010ypy.1_Intron|SLC1A4_uc010ypz.1_Intron|SLC1A4_uc010fcv.2_Silent_p.L131L NM_003038 NP_003029 P43007 SATT_HUMAN solute carrier family 1, member 4 isoform 1 131 Helical; (Potential). cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic intermediate filament|melanosome chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(1) 1 L-Alanine(DB00160) CCTCGGCGCTCGCCGTGGCCT 0.687 NaN 0 0 0 0.004656 0 21 3 DYSF 8291 broad.mit.edu 37 2 71730410 71730410 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:71730410C>T uc002sie.2 + 4 679 c.303C>T c.(301-303)TTC>TTT p.F101F DYSF_uc010feg.2_Silent_p.F101F|DYSF_uc010feh.2_Silent_p.F101F|DYSF_uc002sig.3_Silent_p.F101F|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.F101F|DYSF_uc010fef.2_Silent_p.F101F|DYSF_uc010fei.2_Silent_p.F101F|DYSF_uc010fek.2_Silent_p.F102F|DYSF_uc010fej.2_Silent_p.F102F|DYSF_uc010fel.2_Silent_p.F102F|DYSF_uc010feo.2_Silent_p.F102F|DYSF_uc010fem.2_Silent_p.F102F|DYSF_uc010fen.2_Silent_p.F102F|DYSF_uc002sif.2_Silent_p.F102F NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 101 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CCGCCAGCTTCAATGCCCCCC 0.577 NaN 0 0 0 0.00361 0 219 31 DYSF 8291 broad.mit.edu 37 2 71776507 71776507 + Missense_Mutation SNP C C T rs144931729 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:71776507C>T uc002sie.2 + 17 1884 c.1508C>T c.(1507-1509)TCG>TTG p.S503L DYSF_uc010feg.2_Missense_Mutation_p.S534L|DYSF_uc010feh.2_Intron|DYSF_uc002sig.3_Intron|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.S503L|DYSF_uc010fef.2_Intron|DYSF_uc010fei.2_Intron|DYSF_uc010fek.2_Intron|DYSF_uc010fej.2_Intron|DYSF_uc010fel.2_Intron|DYSF_uc010feo.2_Missense_Mutation_p.S535L|DYSF_uc010fem.2_Missense_Mutation_p.S504L|DYSF_uc010fen.2_Intron|DYSF_uc002sif.2_Missense_Mutation_p.S504L NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 503 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GTCAAGCCTTCGAAAGCCTCA 0.577 NaN 0 0 0 0.010771 0 36 6 TET3 200424 broad.mit.edu 37 2 74326619 74326619 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74326619C>T uc002skb.3 + 8 3079 c.3079C>T c.(3079-3081)CGG>TGG p.R1027W NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 1027 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CTGCCGCCAGCGGCAGCTGGA 0.637 NaN 0 0 0 0.003954 0 19 15 BOLA3 388962 broad.mit.edu 37 2 74369455 74369455 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74369455C>G uc002skc.1 - 3 240 c.202G>C c.(202-204)GAA>CAA p.E68Q BOLA3_uc002skd.1_Intron NM_212552 NP_997717 Q53S33 BOLA3_HUMAN bolA-like 3 isoform 1 68 extracellular region 0 TCTTCTGATTCAATTTTAATT 0.423 NaN 0 0 0 0.010771 0 34 65 MOGS 7841 broad.mit.edu 37 2 74689799 74689799 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74689799C>G uc010ffj.2 - 4 1280 c.1117G>C c.(1117-1119)GAG>CAG p.E373Q MOGS_uc010ffh.2_Missense_Mutation_p.E98Q|MOGS_uc010yrt.1_Missense_Mutation_p.E254Q|MOGS_uc010ffi.2_Missense_Mutation_p.E267Q NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 373 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 AAGGTCTTCTCAAAGCGCTCT 0.587 NaN 0 0 0 0.010818 0 33 108 MOGS 7841 broad.mit.edu 37 2 74689864 74689864 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:74689864C>G uc010ffj.2 - 4 1215 c.1052G>C c.(1051-1053)AGA>ACA p.R351T MOGS_uc010ffh.2_Missense_Mutation_p.R76T|MOGS_uc010yrt.1_Missense_Mutation_p.R232T|MOGS_uc010ffi.2_Missense_Mutation_p.R245T NM_006302 NP_006293 Q13724 MOGS_HUMAN mannosyl-oligosaccharide glucosidase isoform 1 351 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|membrane fraction mannosyl-oligosaccharide glucosidase activity 0 GCCTGCCAGTCTTGGCAGGGC 0.532 NaN 0 0 0 0.00361 0 69 93 TGOLN2 10618 broad.mit.edu 37 2 85554607 85554607 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:85554607T>C uc010fgd.1 - 2 537 c.248A>G c.(247-249)AAG>AGG p.K83R TGOLN2_uc002soz.2_Missense_Mutation_p.K83R|TGOLN2_uc002spa.2_Intron|TGOLN2_uc002spb.2_Missense_Mutation_p.K83R|TGOLN2_uc002spc.1_Missense_Mutation_p.K83R NM_006464 NP_006455 O43493 TGON2_HUMAN trans-golgi network protein 2 83 Extracellular (Potential).|14 X 14 AA tandem repeats.|3. integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle protein binding 0 CGCACCCGACTTGTTGGGGGT 0.602 NaN 0 0 0 0.004482 0 7 533 REV1 51455 broad.mit.edu 37 2 100052376 100052376 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:100052376C>G uc002tad.2 - 7 1453 c.1241G>C c.(1240-1242)AGA>ACA p.R414T REV1_uc002tac.2_Missense_Mutation_p.R414T NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 414 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 GCTCTGATGTCTGGGAGAATT 0.348 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.00361 0 39 119 NPAS2 4862 broad.mit.edu 37 2 101591943 101591943 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:101591943G>A uc002tap.1 + 14 1592 c.1306G>A c.(1306-1308)GAG>AAG p.E436K NPAS2_uc010yvt.1_Missense_Mutation_p.E501K|NPAS2_uc010fit.1_Missense_Mutation_p.E14K NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 436 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 GCTGATGGCAGAGGCCAGCAC 0.577 NaN 0 0 0 0.00361 0 156 253 C2orf29 55571 broad.mit.edu 37 2 101885518 101885518 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:101885518G>C uc002taw.3 + 6 1337 c.1255G>C c.(1255-1257)GAT>CAT p.D419H NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 419 cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TACAGCTGTTGATCTACCTCC 0.279 NaN 0 0 0 0.001168 0 5 24 IMP4 92856 broad.mit.edu 37 2 131103254 131103254 + Missense_Mutation SNP G G A rs146322628 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:131103254G>A uc002tra.1 + 5 438 c.421G>A c.(421-423)GAG>AAG p.E141K NM_033416 NP_219484 Q96G21 IMP4_HUMAN IMP4, U3 small nucleolar ribonucleoprotein, 141 Brix. rRNA processing|translation nucleolus|ribonucleoprotein complex aminoacyl-tRNA ligase activity|ATP binding|protein binding central_nervous_system(2) 2 Colorectal(110;0.1) GGTCGTTCACGAGCATCGGGG 0.667 NaN 0 0 0 0.00361 0 48 36 FAM123C 205147 broad.mit.edu 37 2 131520411 131520411 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:131520411G>A uc002trw.2 + 2 956 c.766G>A c.(766-768)GAT>AAT p.D256N FAM123C_uc010fmv.2_Missense_Mutation_p.D256N|FAM123C_uc010fms.1_Missense_Mutation_p.D256N|FAM123C_uc010fmt.1_Missense_Mutation_p.D256N|FAM123C_uc010fmu.1_Missense_Mutation_p.D256N NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 256 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GGTGTTCGCAGATGAGAGCTC 0.647 NaN 0 0 0 0.00361 0 58 54 LRP1B 53353 broad.mit.edu 37 2 141625324 141625324 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:141625324G>C uc002tvj.1 - 27 5386 c.4414C>G c.(4414-4416)CCC>GCC p.P1472A LRP1B_uc010fnl.1_Missense_Mutation_p.P654A NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1472 Extracellular (Potential).|LDL-receptor class B 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACAGCAAAGGGATGGGAAAGG 0.428 NaN TSP Lung(27;0.18) 0 0 0 0.009096 0 4 78 NEB 4703 broad.mit.edu 37 2 152468805 152468805 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:152468805C>G uc010fnx.2 - 74 11162 c.10971G>C c.(10969-10971)CTG>CTC p.L3657L NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3657 Nebulin 100. 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) TCCTGTCACTCAGGATTTCTC 0.473 NaN 0 0 0 0.00361 0 49 6 HOXD13 3239 broad.mit.edu 37 2 176958267 176958267 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:176958267G>A uc002ukf.1 + 1 736 c.649G>A c.(649-651)GAG>AAG p.E217K NM_000523 NP_000514 P35453 HXD13_HUMAN homeobox D13 217 skeletal system development|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding lung(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678) CGGCTCCGGGGAGCCTCGGCA 0.617 NaN T NUP98 AML* 0 0 0 0.00361 0 67 12 COL5A2 1290 broad.mit.edu 37 2 189931201 189931201 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:189931201G>A uc002uqk.2 - 23 1753 c.1478C>T c.(1477-1479)CCG>CTG p.P493L COL5A2_uc010frx.2_Intron NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 493 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TGGGCCTATCGGACCCTGAAT 0.478 NaN 0 0 0 0.00361 0 51 136 AOX1 316 broad.mit.edu 37 2 201469496 201469496 + Silent SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:201469496G>T uc002uvx.2 + 9 848 c.747G>T c.(745-747)CTG>CTT p.L249L NM_001159 NP_001150 Q06278 ADO_HUMAN aldehyde oxidase 1 249 FAD-binding PCMH-type. 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) CCGTGACCCTGAAGGAACTGC 0.448 NaN 1 0 3.27315e-48 0.00361 3.59501e-48 85 41 ICOS 29851 broad.mit.edu 37 2 204820542 204820542 + Missense_Mutation SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:204820542A>T uc002vam.2 + 2 309 c.242A>T c.(241-243)AAA>ATA p.K81I ICOS_uc010zip.1_Missense_Mutation_p.K81I|ICOS_uc010fua.2_Missense_Mutation_p.K81I NM_012092 NP_036224 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator precursor 81 Ig-like V-type.|Extracellular (Potential). immune response|T cell costimulation extracellular region 0 AAGAGTCTGAAATTCTGCCAT 0.388 NaN 0 0 0 0.010818 0 29 63 ICOS 29851 broad.mit.edu 37 2 204820544 204820544 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:204820544T>C uc002vam.2 + 2 311 c.244T>C c.(244-246)TTC>CTC p.F82L ICOS_uc010zip.1_Missense_Mutation_p.F82L|ICOS_uc010fua.2_Missense_Mutation_p.F82L NM_012092 NP_036224 Q9Y6W8 ICOS_HUMAN inducible T-cell co-stimulator precursor 82 Ig-like V-type.|Extracellular (Potential). immune response|T cell costimulation extracellular region 0 GAGTCTGAAATTCTGCCATTC 0.388 NaN 0 0 0 0.010818 0 28 61 BARD1 580 broad.mit.edu 37 2 215645993 215645993 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:215645993G>C uc002veu.2 - 4 740 c.605C>G c.(604-606)TCT>TGT p.S202C BARD1_uc010zjm.1_Missense_Mutation_p.S58C NM_000465 NP_000456 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 202 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding lung(2) 2 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTTTTTCCAGATCTTGCAGA 0.368 NaN Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 0 0 0 0.001984 0 7 15 OBSL1 23363 broad.mit.edu 37 2 220432452 220432452 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:220432452G>A uc010fwk.2 - 3 1579 c.1522C>T c.(1522-1524)CTC>TTC p.L508F OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.L508F|OBSL1_uc002vmj.2_Missense_Mutation_p.L95F NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 508 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) TTTACTCTGAGAAGCGTAGTG 0.597 NaN 0 0 0 0.005443 0 22 66 MFF 56947 broad.mit.edu 37 2 228205033 228205033 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:228205033G>C uc002vos.2 + 6 873 c.455G>C c.(454-456)AGA>ACA p.R152T MFF_uc002vot.2_Missense_Mutation_p.R126T|MFF_uc002vou.2_Missense_Mutation_p.R152T|MFF_uc002vov.2_Missense_Mutation_p.R126T|MFF_uc002vow.2_Missense_Mutation_p.R126T|MFF_uc002vox.2_Missense_Mutation_p.R126T|MFF_uc002voy.2_Missense_Mutation_p.R152T|MFF_uc002voz.2_Missense_Mutation_p.R126T NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 152 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 AGACTAAAAAGAGAGCGGTCT 0.413 NaN 0 0 0 0.00874 0 28 18 USP40 55230 broad.mit.edu 37 2 234386116 234386116 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:234386116G>A uc010zmr.1 - 31 3666 c.3666C>T c.(3664-3666)ATC>ATT p.I1222I USP40_uc002vul.2_Silent_p.I206I NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN ubiquitin thioesterase 40 1210 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(1)|lung(1)|breast(1) 3 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CACTGGAGAGGATGTAGCTGC 0.602 NaN 0 0 0 0.006122 0 15 45 IDH3B 3420 broad.mit.edu 37 20 2639436 2639436 + Missense_Mutation SNP G G C rs140692628 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:2639436G>C uc002wgp.2 - 12 1128 c.1119C>G c.(1117-1119)ATC>ATG p.I373M IDH3B_uc002wgq.2_Intron|IDH3B_uc002wgr.2_Missense_Mutation_p.I221M NM_006899 NP_008830 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3, beta subunit isoform 373 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 NADH(DB00157) TGACAGACTTGATGAAGTCGG 0.552 NaN 0 0 0 0.00874 0 31 45 IDH3B 3420 broad.mit.edu 37 20 2640753 2640753 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:2640753G>C uc002wgp.2 - 9 847 c.838C>G c.(838-840)CTG>GTG p.L280V IDH3B_uc002wgq.2_Missense_Mutation_p.L280V|IDH3B_uc002wgr.2_Missense_Mutation_p.L128V NM_006899 NP_008830 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3, beta subunit isoform 280 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 NADH(DB00157) CCAGCAGCCAGATTGTCAATA 0.517 NaN 0 0 0 0.009718 0 38 55 SEC23B 10483 broad.mit.edu 37 20 18535017 18535017 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:18535017G>A uc002wqz.1 + 18 2574 c.2131G>A c.(2131-2133)GAG>AAG p.E711K SEC23B_uc002wra.1_Missense_Mutation_p.E711K|SEC23B_uc002wrb.1_Missense_Mutation_p.E711K|SEC23B_uc010zsb.1_Missense_Mutation_p.E693K|SEC23B_uc002wrc.1_Missense_Mutation_p.E711K NM_006363 NP_006354 Q15437 SC23B_HUMAN Sec23 homolog B 711 ER to Golgi vesicle-mediated transport|intracellular protein transport COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane zinc ion binding ovary(1) 1 CATCAACACGGAGCATGGAGG 0.458 NaN 0 0 0 0.00361 0 78 63 C20orf26 26074 broad.mit.edu 37 20 20177385 20177385 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:20177385T>G uc002wru.2 + 16 1838 c.1762T>G c.(1762-1764)TAC>GAC p.Y588D C20orf26_uc010zse.1_Missense_Mutation_p.Y568D NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 588 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) ATCCTGTCTCTACTACCGTGT 0.473 NaN 0 0 0 0.010504 0 18 56 C20orf26 26074 broad.mit.edu 37 20 20257987 20257987 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:20257987G>C uc002wru.2 + 22 2757 c.2681G>C c.(2680-2682)GGA>GCA p.G894A C20orf26_uc010zse.1_Missense_Mutation_p.G874A|C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 894 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GGAGCCGCCGGAGTCACTATG 0.652 NaN 0 0 0 0.007291 0 28 58 ENTPD6 955 broad.mit.edu 37 20 25203528 25203528 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:25203528G>C uc002wuj.2 + 12 1280 c.1100G>C c.(1099-1101)AGA>ACA p.R367T ENTPD6_uc010zsz.1_Missense_Mutation_p.R149T|ENTPD6_uc002wum.2_Missense_Mutation_p.R350T|ENTPD6_uc010zta.1_Missense_Mutation_p.R367T|ENTPD6_uc002wun.2_Missense_Mutation_p.R333T|ENTPD6_uc002wuk.2_Missense_Mutation_p.R366T|ENTPD6_uc002wul.2_Missense_Mutation_p.R366T|ENTPD6_uc010ztb.1_Missense_Mutation_p.R339T|ENTPD6_uc010ztc.1_Missense_Mutation_p.R339T|ENTPD6_uc002wuo.2_Missense_Mutation_p.R119T|ENTPD6_uc010ztd.1_Missense_Mutation_p.R115T|ENTPD6_uc010gdk.1_RNA|ENTPD6_uc010gdl.1_RNA NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 367 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 CTTCAAAACAGAGTGCACAGG 0.582 NaN 0 0 0 0.00361 0 116 65 NINL 22981 broad.mit.edu 37 20 25459797 25459797 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:25459797C>T uc002wux.1 - 16 2037 c.1963G>A c.(1963-1965)GAG>AAG p.E655K NINL_uc010gdn.1_Missense_Mutation_p.E655K|NINL_uc010gdo.1_Missense_Mutation_p.E438K NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 655 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CTCTCCTTCTCAAAGTTCCTT 0.537 NaN 0 0 0 0.00333 0 19 71 CBFA2T2 9139 broad.mit.edu 37 20 32210977 32210977 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:32210977G>C uc002wzg.1 + 6 1131 c.594G>C c.(592-594)CAG>CAC p.Q198H CBFA2T2_uc010zug.1_5'UTR|CBFA2T2_uc002wze.1_Missense_Mutation_p.Q189H|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Missense_Mutation_p.Q169H|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 198 TAFH. nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 CGGCCAAGCAGACCCCATCCC 0.582 NaN 0 0 0 0.004289 0 32 129 NCOA6 23054 broad.mit.edu 37 20 33364229 33364229 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:33364229C>T uc002xav.2 - 5 2829 c.258G>A c.(256-258)CAG>CAA p.Q86Q NCOA6_uc002xaw.2_Silent_p.Q86Q|NCOA6_uc010gew.1_Silent_p.Q86Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 86 TBP/GTF2A-binding region.|NCOA1-binding region.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 GCTCCACCTTCTGTACTTTTA 0.453 NaN 0 0 0 0.00278 0 19 51 UQCC 55245 broad.mit.edu 37 20 33891825 33891825 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:33891825C>T uc002xcd.2 - 10 880 c.813G>A c.(811-813)GGG>GGA p.G271G UQCC_uc010zuy.1_Silent_p.G172G|UQCC_uc010zuz.1_Silent_p.G116G|UQCC_uc010zva.1_Silent_p.G134G|UQCC_uc002xce.2_Silent_p.G244G|UQCC_uc002xcg.2_Silent_p.G137G|UQCC_uc010gfb.2_Silent_p.G245G|UQCC_uc010zvb.1_Silent_p.G203G|UQCC_uc002xcf.2_Silent_p.G159G|UQCC_uc002xch.2_RNA|UQCC_uc002xcc.2_Silent_p.G84G NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 271 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) AGCTCACCTCCCCTGTCAGAA 0.592 NaN OREG0025888 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 71 53 CHD6 84181 broad.mit.edu 37 20 40127937 40127937 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:40127937C>T uc002xka.1 - 6 1091 c.913G>A c.(913-915)GAG>AAG p.E305K CHD6_uc002xkd.2_Missense_Mutation_p.E283K|CHD6_uc002xkc.2_Missense_Mutation_p.E340K NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 305 Chromo 1. chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CCACCAACCTCCTGGACAGTC 0.403 NaN 0 0 0 0.006122 0 13 5 TOX2 84969 broad.mit.edu 37 20 42694696 42694696 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:42694696C>A uc002xlf.3 + 6 1268 c.1251C>A c.(1249-1251)CCC>CCA p.P417P TOX2_uc010ggo.2_Silent_p.P435P|TOX2_uc002xle.3_Silent_p.P393P|TOX2_uc010ggp.2_Silent_p.P393P|TOX2_uc002xlg.2_Intron|TOX2_uc010zwk.1_Silent_p.P313P NM_001098798 NP_001092268 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 417 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) TGCCCACCCCCATGGCACTCC 0.677 NaN 1 0 2.47907e-22 0.00361 2.6826e-22 48 25 ZMYND8 23613 broad.mit.edu 37 20 45875047 45875047 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:45875047C>G uc002xta.1 - 14 2183 c.1929G>C c.(1927-1929)GAG>GAC p.E643D ZMYND8_uc010ghq.1_Missense_Mutation_p.E320D|ZMYND8_uc010ghr.1_Missense_Mutation_p.E618D|ZMYND8_uc002xst.1_Missense_Mutation_p.E571D|ZMYND8_uc002xsu.1_Missense_Mutation_p.E643D|ZMYND8_uc002xsv.1_Missense_Mutation_p.E571D|ZMYND8_uc002xsw.1_Missense_Mutation_p.E395D|ZMYND8_uc002xsx.1_Missense_Mutation_p.E395D|ZMYND8_uc002xsy.1_Missense_Mutation_p.E618D|ZMYND8_uc002xsz.1_Missense_Mutation_p.E580D|ZMYND8_uc010zxy.1_Missense_Mutation_p.E670D|ZMYND8_uc002xtb.1_Missense_Mutation_p.E663D|ZMYND8_uc002xss.2_Missense_Mutation_p.E643D|ZMYND8_uc010zxz.1_Missense_Mutation_p.E638D|ZMYND8_uc002xtc.1_Missense_Mutation_p.E663D|ZMYND8_uc002xtd.1_Missense_Mutation_p.E638D|ZMYND8_uc002xte.1_Missense_Mutation_p.E643D|ZMYND8_uc010zya.1_Missense_Mutation_p.E643D|ZMYND8_uc002xtf.1_Missense_Mutation_p.E663D|ZMYND8_uc002xtg.2_Missense_Mutation_p.E637D|ZMYND8_uc010ghs.1_Missense_Mutation_p.E637D NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 643 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) CCTCTTTAATCTCCACTGGGT 0.512 NaN 0 0 0 0.00361 0 42 158 PARD6B 84612 broad.mit.edu 37 20 49354553 49354553 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:49354553G>A uc002xvo.2 + 2 469 c.226G>A c.(226-228)GAT>AAT p.D76N NM_032521 NP_115910 Q9BYG5 PAR6B_HUMAN PAR-6 beta 76 OPR. axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly cytosol|tight junction protein binding kidney(1) 1 AAATAATGATGATAATTATCA 0.338 NaN 0 0 0 0.00361 0 41 22 ZNF831 128611 broad.mit.edu 37 20 57768706 57768706 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:57768706G>A uc002yan.2 + 1 2632 c.2632G>A c.(2632-2634)GAG>AAG p.E878K NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 878 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GCAGGTGGGCGAGCCTCTGGA 0.657 NaN 0 0 0 0.007413 0 14 86 CDH4 1002 broad.mit.edu 37 20 60509192 60509192 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:60509192G>C uc002ybn.1 + 15 2472 c.2458G>C c.(2458-2460)GAT>CAT p.D820H CDH4_uc002ybp.1_Missense_Mutation_p.D746H NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 820 Cytoplasmic (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCGTCGCGTGGATGAGCGGCC 0.677 NaN 0 0 0 0.004007 0 11 74 LAMA5 3911 broad.mit.edu 37 20 60921967 60921967 + Splice_Site SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:60921967A>C uc002ycq.2 - 7 1139 c.1072_splice c.e7+1 p.S358_splice NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGGCACTCACACTGGCACT 0.687 NaN 0 0 0 0.007835 0 33 52 CABLES2 81928 broad.mit.edu 37 20 60968519 60968519 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr20:60968519G>A uc002ycv.2 - 6 864 c.857C>T c.(856-858)TCG>TTG p.S286L NM_031215 NP_112492 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 286 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity pancreas(1) 1 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGCTGGTGCCGACTTGGTGGG 0.637 NaN 0 0 0 0.00361 0 45 151 RNF160 26046 broad.mit.edu 37 21 30339132 30339132 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:30339132C>G uc002ymr.2 - 10 1832 c.1819G>C c.(1819-1821)GAG>CAG p.E607Q RNF160_uc010gll.1_RNA NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 561 ligase activity|zinc ion binding 0 TCAATCTTCTCTCCTTCTGAA 0.348 NaN 0 0 0 0.001855 0 13 7 GRIK1 2897 broad.mit.edu 37 21 30934029 30934029 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:30934029C>G uc002yno.1 - 15 2736 c.2272G>C c.(2272-2274)GAG>CAG p.E758Q GRIK1_uc002ynn.2_Missense_Mutation_p.E743Q|GRIK1_uc011acs.1_Missense_Mutation_p.E758Q|GRIK1_uc011act.1_Missense_Mutation_p.E619Q NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 758 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) GTCACATACTCAATGCTGGTG 0.547 NaN 0 0 0 0.00361 0 48 31 GRIK1 2897 broad.mit.edu 37 21 31066295 31066295 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:31066295C>T uc002yno.1 - 2 670 c.206G>A c.(205-207)CGA>CAA p.R69Q GRIK1_uc002ynn.2_Missense_Mutation_p.R69Q|GRIK1_uc011acs.1_Missense_Mutation_p.R69Q|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.2_Missense_Mutation_p.R69Q NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 69 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) CATCAGGGTTCGGTTTCTGTT 0.398 NaN 0 0 0 0.012213 0 26 71 SON 6651 broad.mit.edu 37 21 34926321 34926321 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:34926321C>T uc002yse.1 + 3 4833 c.4784C>T c.(4783-4785)TCT>TTT p.S1595F SON_uc002ysb.1_Missense_Mutation_p.S1595F|SON_uc002ysc.2_Missense_Mutation_p.S1595F|SON_uc002ysd.2_Missense_Mutation_p.S586F|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.S586F NM_138927 NP_620305 P18583 SON_HUMAN SON DNA-binding protein isoform F 1595 anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding ovary(4)|skin(2) 6 ACTCTATCTTCTACTGGTCCT 0.413 NaN 0 0 0 0.007291 0 25 51 SLC5A3 6526 broad.mit.edu 37 21 35468011 35468011 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:35468011C>T uc002yto.2 + 2 1026 c.514C>T c.(514-516)CTG>TTG p.L172L MRPS6_uc002ytp.2_Intron NM_006933 NP_008864 P53794 SC5A3_HUMAN solute carrier family 5 (inositol transporters), 172 Helical; (Potential). integral to plasma membrane myo-inositol:sodium symporter activity ovary(2) 2 GACTGCTTTGCTGACTGTCAC 0.473 NaN 0 0 0 0.004878 0 29 84 COL18A1 80781 broad.mit.edu 37 21 46876059 46876059 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:46876059C>G uc011afs.1 + 1 636 c.615C>G c.(613-615)CTC>CTG p.L205L COL18A1_uc002zhg.2_Intron|COL18A1_uc002zhi.2_Silent_p.L205L NM_130444 NP_569711 P39060 COIA1_HUMAN alpha 1 type XVIII collagen isoform 3 precursor 205 cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception collagen|extracellular space extracellular matrix structural constituent|metal ion binding|protein binding central_nervous_system(1) 1 Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929) GGGCACCACTCACGGGGCCCT 0.687 NaN 0 0 0 0.010504 0 18 52 IL17RA 23765 broad.mit.edu 37 22 17579721 17579721 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:17579721G>A uc002zly.2 + 4 500 c.367G>A c.(367-369)GAA>AAA p.E123K IL17RA_uc010gqt.2_Missense_Mutation_p.E123K NM_014339 NP_055154 Q96F46 I17RA_HUMAN interleukin 17A receptor precursor 123 Extracellular (Potential). fibroblast activation|positive regulation of interleukin-23 production integral to plasma membrane interleukin-17 receptor activity skin(2) 2 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.241) GAACACCAATGAACGTTTGTG 0.512 NaN 0 0 0 0.008361 0 26 102 CLTCL1 8218 broad.mit.edu 37 22 19196576 19196576 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:19196576C>G uc002zpb.2 - 21 3373 c.3298G>C c.(3298-3300)GAG>CAG p.E1100Q CLTCL1_uc011agv.1_Missense_Mutation_p.E1100Q|CLTCL1_uc011agw.1_Missense_Mutation_p.E1100Q|CLTCL1_uc011agt.1_5'Flank|CLTCL1_uc011agu.1_5'Flank|CLTCL1_uc010grm.1_5'UTR|CLTCL1_uc002zpe.2_Missense_Mutation_p.E60Q|CLTCL1_uc002zpd.1_Missense_Mutation_p.E60Q NM_007098 NP_009029 P53675 CLH2_HUMAN clathrin, heavy polypeptide-like 1 isoform 1 1100 Proximal segment.|Heavy chain arm. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity ovary(4)|central_nervous_system(1) 5 Colorectal(54;0.0993) TTGCATCTCTCCGCAAACTCA 0.517 NaN T NaN ALCL 0 0 0 0.00308 0 7 16 RTN4R 65078 broad.mit.edu 37 22 20230351 20230351 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:20230351G>C uc002zrv.2 - 2 506 c.305C>G c.(304-306)ACT>AGT p.T102S RTN4R_uc002zru.2_5'UTR NM_023004 NP_075380 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor precursor 102 LRR 2. axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity 0 Colorectal(54;0.0993) GGCCAGGCCAGTGAAGGCAGC 0.637 NaN 0 0 0 0.00361 0 48 25 SNAP29 9342 broad.mit.edu 37 22 21213633 21213633 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:21213633G>A uc011ahw.1 + 1 342 c.235G>A c.(235-237)GAG>AAG p.E79K PI4KA_uc002zsz.3_5'Flank|PI4KA_uc010gsq.1_5'Flank NM_004782 NP_004773 O95721 SNP29_HUMAN synaptosomal-associated protein 29 79 Potential. cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity 0 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) CGCCTCTTCCGAGGTGAGCCT 0.612 NaN 0 0 0 0.003755 0 27 44 AP1B1 162 broad.mit.edu 37 22 29738343 29738343 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:29738343C>T uc003afj.2 - 12 1651 c.1467G>A c.(1465-1467)GTG>GTA p.V489V AP1B1_uc003afi.2_Silent_p.V489V|AP1B1_uc003afk.2_Silent_p.V489V|AP1B1_uc003afl.2_Silent_p.V489V|AP1B1_uc011ako.1_Silent_p.V42V NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 489 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 GAAAGAGTTTCACAATGGCTG 0.582 NaN 0 0 0 0.00361 0 61 19 ASCC2 84164 broad.mit.edu 37 22 30185085 30185085 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:30185085C>A uc003agr.2 - 20 2296 c.2191G>T c.(2191-2193)GAA>TAA p.E731* ASCC2_uc003ags.2_RNA|ASCC2_uc003agt.2_Nonsense_Mutation_p.E731*|ASCC2_uc011akr.1_Nonsense_Mutation_p.E655* NM_032204 NP_115580 Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 731 regulation of transcription, DNA-dependent|transcription, DNA-dependent 0 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) TTGTTGGCTTCCTTCTTCCTG 0.622 NaN 1 0 2.43435e-39 0.00361 2.65603e-39 119 403 SLC5A4 6527 broad.mit.edu 37 22 32616910 32616910 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:32616910C>T uc003ami.2 - 14 1767 c.1765G>A c.(1765-1767)GAA>AAA p.E589K NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 589 Cytoplasmic (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 ATATTACCTTCTTCAACACCA 0.408 NaN 0 0 0 0.00361 0 47 65 RASD2 23551 broad.mit.edu 37 22 35947637 35947637 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:35947637A>G uc003anx.2 + 3 564 c.359A>G c.(358-360)AAG>AGG p.K120R RASD2_uc003any.2_Missense_Mutation_p.K120R NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 120 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 CTGGAGGTCAAGTCCTGCCTG 0.597 NaN 0 0 0 0.003755 0 28 98 MYH9 4627 broad.mit.edu 37 22 36681357 36681357 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:36681357C>T uc003apg.2 - 38 5524 c.5293G>A c.(5293-5295)GAC>AAC p.D1765N NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1765 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 AGGTTCAGGTCGGTGTTGATC 0.617 NaN T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 0 0 0 0.007835 0 36 118 TXN2 25828 broad.mit.edu 37 22 36876824 36876824 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:36876824G>C uc003apk.1 - 2 138 c.61C>G c.(61-63)CAG>GAG p.Q21E TXN2_uc003apl.1_RNA NM_012473 NP_036605 Q99757 THIOM_HUMAN thioredoxin 2 precursor 21 cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport mitochondrion|nucleolus electron carrier activity 0 CACTGACCCTGAGAGGGCTTC 0.577 NaN 0 0 0 0.00333 0 23 78 FOXRED2 80020 broad.mit.edu 37 22 36900716 36900716 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:36900716C>T uc003apn.3 - 2 733 c.625G>A c.(625-627)GAG>AAG p.E209K FOXRED2_uc003apo.3_Missense_Mutation_p.E209K|FOXRED2_uc003app.3_Missense_Mutation_p.E209K NM_024955 NP_079231 Q8IWF2 FXRD2_HUMAN FAD-dependent oxidoreductase domain containing 2 209 ER-associated protein catabolic process endoplasmic reticulum lumen flavin adenine dinucleotide binding|oxidoreductase activity|protein binding lung(1)|kidney(1) 2 ACAAAGTCCTCAGGGTCCACG 0.527 NaN 0 0 0 0.00361 0 63 44 RPL3 6122 broad.mit.edu 37 22 39712783 39712783 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:39712783C>G uc003axi.2 - 4 497 c.429G>C c.(427-429)AAG>AAC p.K143N RPL3_uc003axh.2_Intron|RPL3_uc003axj.2_5'UTR|RPL3_uc010gxx.2_Missense_Mutation_p.K91N|RPL3_uc003axg.2_Missense_Mutation_p.K91N|RPL3_uc003axk.1_5'UTR NM_000967 NP_000958 P39023 RL3_HUMAN ribosomal protein L3 isoform a 143 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(1) 2 Melanoma(58;0.04) CCAGCTGCTTCTTGCCATCCT 0.547 NaN OREG0026575 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.007291 0 29 106 FAM83F 113828 broad.mit.edu 37 22 40417887 40417887 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:40417887G>A uc003ayk.1 + 4 1467 c.1373G>A c.(1372-1374)AGC>AAC p.S458N NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 458 breast(1) 1 GGCATGGCCAGCTCTGTCTCC 0.657 NaN 0 0 0 0.010504 0 14 80 EP300 2033 broad.mit.edu 37 22 41537064 41537064 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:41537064C>G uc003azl.3 + 10 2286 c.1891C>G c.(1891-1893)CAC>GAC p.H631D NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 631 KIX. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 GGAATACTACCACCTTCTAGC 0.373 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.006122 0 16 15 TCF20 6942 broad.mit.edu 37 22 42607575 42607575 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:42607575G>C uc003bcj.1 - 1 3871 c.3737C>G c.(3736-3738)TCT>TGT p.S1246C TCF20_uc003bck.1_Missense_Mutation_p.S1246C|TCF20_uc003bnt.2_Missense_Mutation_p.S1246C NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 1246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GTTTTGAGAAGAATGATCCTC 0.483 NaN 0 0 0 0.00333 0 21 60 CYB5R3 1727 broad.mit.edu 37 22 43032768 43032768 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:43032768G>A uc003bcz.2 - 2 190 c.106C>T c.(106-108)CTC>TTC p.L36F CYB5R3_uc010gzc.1_5'UTR|CYB5R3_uc003bcw.2_Missense_Mutation_p.L26F|CYB5R3_uc011aps.1_Missense_Mutation_p.L69F|CYB5R3_uc003bcy.2_Missense_Mutation_p.L13F|CYB5R3_uc003bcx.2_Missense_Mutation_p.L13F NM_000398 NP_000389 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 isoform m 36 blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity skin(1) 1 NADH(DB00157) GGGCTCTCGAGGGTGATGGCT 0.627 NaN 0 0 0 0.003271 0 33 28 TMEM40 55287 broad.mit.edu 37 3 12783978 12783978 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:12783978C>G uc003bxg.1 - 5 457 c.330G>C c.(328-330)TTG>TTC p.L110F TMEM40_uc003bxh.1_Missense_Mutation_p.L80F|TMEM40_uc003bxi.1_Missense_Mutation_p.L34F|TMEM40_uc011auv.1_Missense_Mutation_p.L126F NM_018306 NP_060776 Q8WWA1 TMM40_HUMAN transmembrane protein 40 110 integral to membrane 0 GCTCATCCTTCAAAACGTCAG 0.517 NaN 0 0 0 0.00361 0 74 98 GRIP2 80852 broad.mit.edu 37 3 14583429 14583429 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:14583429G>T uc011avi.1 - 1 160 c.160C>A c.(160-162)CAT>AAT p.H54N GRIP2_uc011avh.1_5'Flank|GRIP2_uc003byv.1_5'Flank NM_001080423 NP_001073892 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 Error:Variant_position_missing_in_Q9C0E4_after_alignment synaptic transmission cytosol|plasma membrane protein binding pancreas(1) 1 GGCTCGCCATGAAGACCCTGG 0.572 NaN 1 0 1.33987e-11 0.008291 1.40155e-11 8 12 MRPS25 64432 broad.mit.edu 37 3 15094937 15094937 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:15094937C>G uc003bzl.2 - 3 394 c.279G>C c.(277-279)AAG>AAC p.K93N MRPS25_uc011avl.1_Intron|MRPS25_uc011avm.1_Missense_Mutation_p.K93N NM_022497 NP_071942 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 93 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 CCTTATTGCTCTTGGTCTCCA 0.488 NaN 0 0 0 0.00278 0 18 58 MRPS25 64432 broad.mit.edu 37 3 15094945 15094945 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:15094945C>G uc003bzl.2 - 3 386 c.271G>C c.(271-273)GAG>CAG p.E91Q MRPS25_uc011avl.1_Intron|MRPS25_uc011avm.1_Missense_Mutation_p.E91Q NM_022497 NP_071942 P82663 RT25_HUMAN mitochondrial ribosomal protein S25 91 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome 0 CTCTTGGTCTCCACATCCACC 0.473 NaN 0 0 0 0.00278 0 17 58 EFHB 151651 broad.mit.edu 37 3 19975088 19975088 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:19975088C>A uc003cbl.3 - 1 619 c.423G>T c.(421-423)GGG>GGT p.G141G EFHB_uc003cbm.2_Intron NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 141 signal transduction proteinaceous extracellular matrix calcium ion binding 0 CTCTCCTGCTCCCTGCAGCCT 0.493 NaN 1 0 4.26978e-12 0.00333 4.48055e-12 21 82 SCN5A 6331 broad.mit.edu 37 3 38622656 38622656 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:38622656C>G uc003cio.2 - 17 3188 c.2994G>C c.(2992-2994)CAG>CAC p.Q998H SCN5A_uc003cin.2_Missense_Mutation_p.Q998H|SCN5A_uc003cil.3_Missense_Mutation_p.Q998H|SCN5A_uc010hhi.2_Missense_Mutation_p.Q998H|SCN5A_uc010hhk.2_Missense_Mutation_p.Q998H|SCN5A_uc011ayr.1_Missense_Mutation_p.Q998H|SCN5A_uc010hhj.1_Missense_Mutation_p.Q609H NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 998 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GCAGCTGGCCCTGGGCGGCAA 0.672 NaN 0 0 0 0.003163 0 14 15 HHATL 57467 broad.mit.edu 37 3 42734575 42734575 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:42734575G>A uc003clw.2 - 12 1531 c.1384C>T c.(1384-1386)CTC>TTC p.L462F HHATL_uc003clx.2_Missense_Mutation_p.L462F NM_020707 NP_065758 Q9HCP6 HHATL_HUMAN hedgehog acyltransferase-like 462 Helical; (Potential). negative regulation of N-terminal protein palmitoylation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.215) TCACCTGTGAGTAGCAGGCGC 0.567 NaN 0 0 0 0.009096 0 4 264 BSN 8927 broad.mit.edu 37 3 49698105 49698105 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:49698105G>A uc003cxe.3 + 6 8941 c.8827G>A c.(8827-8829)GAG>AAG p.E2943K NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2943 Potential. synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCTGCTCCGGGAGCTGGACCG 0.657 NaN 0 0 0 0.008291 0 7 22 C3orf54 389119 broad.mit.edu 37 3 49842359 49842359 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:49842359C>A uc003cxq.1 + 2 936 c.803C>A c.(802-804)GCA>GAA p.A268E NM_203370 NP_976248 Q96EL1 CC054_HUMAN hypothetical protein LOC389119 266 0 BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) TCACGCTTTGCAGCTCTCATG 0.597 NaN 1 0 1.23719e-20 0.00361 1.33658e-20 70 216 SEMA3B 7869 broad.mit.edu 37 3 50314055 50314055 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:50314055C>T uc003cyu.2 + 19 2410 c.2168C>T c.(2167-2169)TCG>TTG p.S723L SEMA3B_uc003cyt.2_Missense_Mutation_p.S722L|SEMA3B_uc003cyv.2_Missense_Mutation_p.S610L|SEMA3B_uc003cyw.2_Missense_Mutation_p.S446L|SEMA3B_uc010hli.2_Missense_Mutation_p.S615L|SEMA3B_uc003cyx.2_Missense_Mutation_p.S609L|SEMA3B_uc003cyy.2_Missense_Mutation_p.S380L|SEMA3B_uc011bdo.1_Missense_Mutation_p.S380L|C3orf45_uc003cyz.2_5'Flank NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 723 axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) CCCCTGGAGTCGCGGAGAAAG 0.721 NaN 0 0 0 0.00499 0 14 8 ACY1 95 broad.mit.edu 37 3 52019910 52019910 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:52019910G>C uc003dcp.2 + 5 368 c.307G>C c.(307-309)GAG>CAG p.E103Q ABHD14B_uc003dcn.2_5'Flank|ACY1_uc011bea.1_Missense_Mutation_p.E193Q|ACY1_uc011beb.1_Missense_Mutation_p.E103Q|ACY1_uc003dcq.2_Missense_Mutation_p.E103Q NM_000666 NP_000657 Q03154 ACY1_HUMAN aminoacylase 1 103 cellular amino acid metabolic process|proteolysis cytosol aminoacylase activity|metal ion binding|metallopeptidase activity breast(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) L-Aspartic Acid(DB00128) CAAGGATTCTGAGGGCTACAT 0.552 NaN 0 0 0 0.010729 0 9 19 ACTR8 93973 broad.mit.edu 37 3 53905383 53905383 + Silent SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:53905383C>A uc003dhd.2 - 11 1502 c.1443G>T c.(1441-1443)CTG>CTT p.L481L ACTR8_uc003dhb.2_Silent_p.L186L|ACTR8_uc003dhc.2_Silent_p.L370L NM_022899 NP_075050 Q9H981 ARP8_HUMAN actin-related protein 8 481 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TGCCGGCCATCAGGCCATCTC 0.547 NaN 1 0 2.65435e-51 0.00361 2.92023e-51 87 78 FAM3D 131177 broad.mit.edu 37 3 58631354 58631354 + Splice_Site SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:58631354C>G uc003dkq.2 - 5 443 c.146_splice c.e5-1 p.Q49_splice NM_138805 NP_620160 Q96BQ1 FAM3D_HUMAN family with sequence similarity 3, member D negative regulation of insulin secretion extracellular region cytokine activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169) TTTTTAACCTCTGGGGAGGAA 0.587 NaN 0 0 0 0.00361 0 57 34 SHQ1 55164 broad.mit.edu 37 3 72890342 72890342 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:72890342C>G uc003dpf.2 - 4 447 c.340G>C c.(340-342)GAG>CAG p.E114Q SHQ1_uc010hod.2_Missense_Mutation_p.E25Q NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 114 ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) TCAGGAATCTCAGAAGCACCT 0.338 NaN 0 0 0 0.001368 0 13 21 CNTN3 5067 broad.mit.edu 37 3 74344388 74344388 + Splice_Site SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:74344388C>G uc003dpm.1 - 18 2482 c.2402_splice c.e18-1 p.E801_splice NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 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) ACTGTAGGCTCTGTTCGGAAA 0.353 NaN 0 0 0 0.006999 0 37 23 ST3GAL6 10402 broad.mit.edu 37 3 98510824 98510824 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:98510824C>T uc003dsz.2 + 9 1132 c.896C>T c.(895-897)TCT>TTT p.S299F ST3GAL6_uc003dsy.2_Missense_Mutation_p.S213F|ST3GAL6_uc003dta.2_Missense_Mutation_p.S181F|ST3GAL6_uc003dtb.2_Missense_Mutation_p.S155F|ST3GAL6_uc003dtc.2_Missense_Mutation_p.S299F|ST3GAL6_uc010hpd.2_Missense_Mutation_p.S352F NM_006100 NP_006091 Q9Y274 SIA10_HUMAN alpha2,3-sialyltransferase VI 299 Lumenal (Potential). amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation integral to Golgi membrane sialyltransferase activity ovary(1) 1 GCCACCATGTCTTTGATGAAT 0.373 NaN 0 0 0 0.009535 0 23 53 IMPG2 50939 broad.mit.edu 37 3 101038512 101038512 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:101038512G>A uc003duq.1 - 2 453 c.250C>T c.(250-252)CTG>TTG p.L84L IMPG2_uc011bhe.1_5'UTR NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 84 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TTAGGAAACAGAATAGATCTC 0.428 NaN 0 0 0 0.00632 0 27 85 CBLB 868 broad.mit.edu 37 3 105421029 105421029 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:105421029G>C uc003dwc.2 - 12 2190 c.1868C>G c.(1867-1869)TCA>TGA p.S623* CBLB_uc011bhi.1_Nonsense_Mutation_p.S645*|CBLB_uc003dwd.1_Nonsense_Mutation_p.S623*|CBLB_uc003dwe.1_Nonsense_Mutation_p.S623* NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 623 Pro-rich. cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 ATTGACATTTGAACTCGCTGT 0.502 NaN Mis S AML 0 0 0 0.010504 0 21 51 CCDC80 151887 broad.mit.edu 37 3 112358139 112358139 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:112358139C>T uc003dzf.2 - 2 832 c.614G>A c.(613-615)AGC>AAC p.S205N CCDC80_uc011bhv.1_Missense_Mutation_p.S205N|CCDC80_uc003dzg.2_Missense_Mutation_p.S205N|CCDC80_uc003dzh.1_Missense_Mutation_p.S205N NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 205 ovary(2) 2 CTGGCCCTCGCTGGTGATCCT 0.577 NaN 0 0 0 0.00361 0 59 61 IQCB1 9657 broad.mit.edu 37 3 121509013 121509013 + Nonsense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:121509013C>A uc010hre.1 - 11 1251 c.1036G>T c.(1036-1038)GAG>TAG p.E346* IQCB1_uc003eek.2_Nonsense_Mutation_p.E213*|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 346 Potential. cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) TTGAGGTCCTCTTCTTCCTTC 0.373 NaN 1 0 6.02501e-08 0.00623 6.21359e-08 34 104 SLC15A2 6565 broad.mit.edu 37 3 121642098 121642098 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:121642098G>A uc003eep.2 + 11 1140 c.987G>A c.(985-987)AGG>AGA p.R329R SLC15A2_uc011bjn.1_Silent_p.R298R NM_021082 NP_066568 Q16348 S15A2_HUMAN peptide transporter 2 isoform a 329 protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) AAGCCATCAGGATGAATAGGA 0.403 NaN 0 0 0 0.008871 0 18 63 ZNF148 7707 broad.mit.edu 37 3 124952313 124952313 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:124952313C>A uc003ehx.3 - 9 1743 c.1257G>T c.(1255-1257)GAG>GAT p.E419D SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.E419D|ZNF148_uc010hsa.2_Missense_Mutation_p.E419D|ZNF148_uc003eia.3_Missense_Mutation_p.E419D|ZNF148_uc003ehy.2_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 419 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 AAACTTTGCTCTCTTCATATG 0.373 NaN 1 0 4.36969e-10 0.001855 4.53484e-10 13 49 COL6A6 131873 broad.mit.edu 37 3 130292929 130292929 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:130292929G>A uc010htl.2 + 7 3138 c.3107G>A c.(3106-3108)AGA>AAA p.R1036K NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1036 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 AGCCTCAACAGAGTGCGAATA 0.418 NaN 0 0 0 0.004672 0 3 12 SLCO2A1 6578 broad.mit.edu 37 3 133670119 133670119 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:133670119G>A uc003eqa.3 - 6 1068 c.794C>T c.(793-795)TCA>TTA p.S265L SLCO2A1_uc003eqb.3_Missense_Mutation_p.S189L|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Missense_Mutation_p.S97L NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 265 Helical; Name=6; (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 CAATAAAGCTGAAGAAATGAG 0.493 NaN 0 0 0 0.012213 0 33 33 PPP2R3A 5523 broad.mit.edu 37 3 135820922 135820922 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:135820922T>C uc003eqv.1 + 11 3566 c.3001T>C c.(3001-3003)TAT>CAT p.Y1001H PPP2R3A_uc011blz.1_Missense_Mutation_p.Y265H|PPP2R3A_uc003eqw.1_Missense_Mutation_p.Y380H NM_002718 NP_002709 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', 1001 EF-hand 2. protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity ovary(3)|pancreas(1)|lung(1)|breast(1)|skin(1) 7 GGAGTACTTCTATGAGGAGCA 0.468 NaN 0 0 0 0.00333 0 22 29 PAQR9 344838 broad.mit.edu 37 3 142682017 142682017 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:142682017G>A uc003evg.2 - 1 162 c.162C>T c.(160-162)TTC>TTT p.F54F PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 54 Cytoplasmic (Potential). integral to membrane receptor activity 0 AGCACTCCACGAAGTCGTCGG 0.687 NaN 0 0 0 0.00308 0 7 5 TM4SF4 7104 broad.mit.edu 37 3 149220466 149220466 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:149220466G>C uc003exd.1 + 5 826 c.595G>C c.(595-597)GAT>CAT p.D199H NM_004617 NP_004608 P48230 T4S4_HUMAN transmembrane 4 superfamily member 4 199 Cytoplasmic (Potential). integral to membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) CTTCTAGGGAGATGGACCCGT 0.403 NaN 0 0 0 0.00361 0 63 42 SI 6476 broad.mit.edu 37 3 164733762 164733762 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:164733762C>T uc003fei.2 - 32 3928 c.3866G>A c.(3865-3867)GGA>GAA p.G1289E NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1289 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTATCTCATTCCTTCTCCTCT 0.403 NaN HNSCC(35;0.089) 0 0 0 0.010504 0 17 69 MECOM 2122 broad.mit.edu 37 3 168834306 168834306 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:168834306C>A uc003ffi.3 - 7 1059 c.790G>T c.(790-792)GAT>TAT p.D264Y MECOM_uc010hwk.1_Missense_Mutation_p.D287Y|MECOM_uc003ffj.3_Missense_Mutation_p.D329Y|MECOM_uc011bpi.1_Missense_Mutation_p.D265Y|MECOM_uc003ffn.3_Missense_Mutation_p.D264Y|MECOM_uc003ffk.2_Missense_Mutation_p.D264Y|MECOM_uc003ffl.2_Missense_Mutation_p.D424Y|MECOM_uc011bpj.1_Missense_Mutation_p.D452Y|MECOM_uc011bpk.1_Missense_Mutation_p.D254Y|MECOM_uc010hwn.2_Missense_Mutation_p.D452Y NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 264 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 GACGTTTTATCCATAGCTGGG 0.478 NaN 1 0 5.8336e-16 0.003271 6.19057e-16 35 31 LRRIQ4 344657 broad.mit.edu 37 3 169539844 169539844 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:169539844C>T uc003fgb.2 + 1 135 c.135C>T c.(133-135)TTC>TTT p.F45F NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 45 LRR 1. 0 TGGAGATCTTCACATTCACAG 0.398 NaN 0 0 0 0.012319 0 15 60 TBL1XR1 79718 broad.mit.edu 37 3 176755921 176755921 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:176755921G>C uc003fiw.3 - 12 1347 c.1087C>G c.(1087-1089)CTC>GTC p.L363V TBL1XR1_uc003fix.3_Missense_Mutation_p.L363V|TBL1XR1_uc011bpz.1_Missense_Mutation_p.L35V NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 363 WD 5. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) GAGGCCAAGAGATTGCCAGTT 0.383 NaN 0 0 0 0.008361 0 21 23 USP13 8975 broad.mit.edu 37 3 179371085 179371085 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:179371085C>T uc003fkh.2 + 1 153 c.72C>T c.(70-72)ATC>ATT p.I24I USP13_uc003fkf.2_Silent_p.I24I NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 24 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) CAGGAGACATCGGCGAGCTGC 0.692 NaN 0 0 0 0.000602 0 4 3 CHRD 8646 broad.mit.edu 37 3 184099750 184099750 + Nonsense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:184099750C>G uc003fov.2 + 6 887 c.641C>G c.(640-642)TCA>TGA p.S214* CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Nonsense_Mutation_p.S214*|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN chordin precursor 214 CHRD 1. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding skin(2)|ovary(1) 3 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATCCGCTTCTCAGACTCCAAT 0.527 NaN 0 0 0 0.004656 0 22 50 ACAP2 23527 broad.mit.edu 37 3 195063325 195063325 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:195063325C>G uc003fun.3 - 6 644 c.403G>C c.(403-405)GAA>CAA p.E135Q ACAP2_uc003fuo.2_Missense_Mutation_p.E135Q NM_012287 NP_036419 Q15057 ACAP2_HUMAN centaurin, beta 2 135 BAR. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding large_intestine(1)|ovary(1) 2 AACGCATTTTCTTTTTCTTCA 0.328 NaN 0 0 0 0.001855 0 14 5 TFRC 7037 broad.mit.edu 37 3 195780393 195780393 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:195780393G>A uc003fvz.3 - 18 2219 c.1936C>T c.(1936-1938)CGT>TGT p.R646C TFRC_uc003fwa.3_Missense_Mutation_p.R646C|TFRC_uc010hzy.2_Missense_Mutation_p.R565C|TFRC_uc011btr.1_Missense_Mutation_p.R364C NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 646 Cell attachment site; required for binding to transferrin.|Extracellular (Potential).|Ligand-binding. R->A,H: No binding to transferrin.|R->K: 5% binding to transferrin. cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport coated pit|endosome|integral to plasma membrane|melanosome peptidase activity|transferrin receptor activity ovary(3) 3 all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00233) AAGTCTCCACGAGCAGAATAC 0.403 NaN T BCL6 NHL 0 0 0 0.00361 0 68 59 GAK 2580 broad.mit.edu 37 4 844837 844837 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:844837C>G uc003gbm.3 - 26 3743 c.3544G>C c.(3544-3546)GAT>CAT p.D1182H GAK_uc003gbn.3_Missense_Mutation_p.D1103H|GAK_uc003gbk.3_Intron|GAK_uc010ibi.2_Missense_Mutation_p.D407H|GAK_uc010ibj.2_RNA|GAK_uc003gbl.3_Missense_Mutation_p.D1035H NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 1182 cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GACAACAGATCTTCAAAGTCG 0.363 NaN 0 0 0 0.012319 0 19 49 POLN 353497 broad.mit.edu 37 4 2172884 2172884 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:2172884C>G uc003ger.2 - 10 1399 c.1399G>C c.(1399-1401)GAA>CAA p.E467Q POLN_uc010ich.1_Missense_Mutation_p.E58Q|POLN_uc011bvi.1_Missense_Mutation_p.E467Q NM_181808 NP_861524 Q7Z5Q5 DPOLN_HUMAN DNA-directed DNA polymerase nu 467 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(23;0.0955) AAATGAGCTTCTTGCTCCAAT 0.323 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.00874 0 34 18 OTOP1 133060 broad.mit.edu 37 4 4199382 4199382 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:4199382G>A uc003ghp.1 - 5 1209 c.1179C>T c.(1177-1179)CTC>CTT p.L393L NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 393 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGCCCACCAAGAGGTCCGAGT 0.597 NaN 0 0 0 0.00361 0 55 62 TBC1D1 23216 broad.mit.edu 37 4 38138896 38138896 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:38138896G>A uc003gtb.2 + 20 3790 c.3447G>A c.(3445-3447)CGG>CGA p.R1149R TBC1D1_uc011byd.1_Silent_p.R1140R|TBC1D1_uc010ifd.2_Silent_p.R936R|TBC1D1_uc003gtd.2_Silent_p.R161R NM_015173 NP_055988 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, 1149 nucleus Rab GTPase activator activity ovary(1) 1 TGCGGCGGCGGAGCGCAGAGC 0.647 NaN 0 0 0 0.004007 0 16 193 N4BP2 55728 broad.mit.edu 37 4 40104488 40104488 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:40104488G>A uc003guy.3 + 4 1361 c.1023G>A c.(1021-1023)GTG>GTA p.V341V N4BP2_uc010ifq.2_Silent_p.V261V|N4BP2_uc010ifr.2_Silent_p.V261V NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 341 Pro-rich. cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 GGAAGGATGTGAGTTACTGCC 0.502 NaN 0 0 0 0.00333 0 21 37 LPHN3 23284 broad.mit.edu 37 4 62849139 62849139 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:62849139C>T uc010ihh.2 + 16 3023 c.2850C>T c.(2848-2850)TTC>TTT p.F950F LPHN3_uc003hcq.3_Silent_p.F950F|LPHN3_uc003hct.2_Silent_p.F343F NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 937 Helical; Name=3; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TACATTTCTTCTTCTTGGCTG 0.438 NaN 0 0 0 0.001855 0 10 18 FRAS1 80144 broad.mit.edu 37 4 79437102 79437102 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:79437102G>A uc003hlb.2 + 66 10764 c.10324G>A c.(10324-10326)GAT>AAT p.D3442N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3437 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GTGGACCTTTGATGCTTATTA 0.557 NaN 0 0 0 0.008291 0 11 27 WDFY3 23001 broad.mit.edu 37 4 85741262 85741262 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:85741262G>A uc003hpd.2 - 12 2077 c.1669C>T c.(1669-1671)CTT>TTT p.L557F WDFY3_uc003hpf.2_Missense_Mutation_p.L557F NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 557 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) GATCCTTGAAGAAGCACTGTC 0.378 NaN 0 0 0 0.011902 0 35 145 MMRN1 22915 broad.mit.edu 37 4 90857267 90857267 + Silent SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:90857267T>C uc003hst.2 + 6 2507 c.2436T>C c.(2434-2436)GAT>GAC p.D812D MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.D554D NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 812 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) TTCCCAGAGATGAGAAACTAA 0.383 NaN 0 0 0 0.010729 0 9 30 RAP1GDS1 5910 broad.mit.edu 37 4 99325699 99325699 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:99325699G>C uc003htx.3 + 7 899 c.709G>C c.(709-711)GAA>CAA p.E237Q RAP1GDS1_uc003htw.3_Missense_Mutation_p.E238Q|RAP1GDS1_uc003htv.3_Missense_Mutation_p.E238Q|RAP1GDS1_uc003htz.3_Missense_Mutation_p.E188Q|RAP1GDS1_uc003hty.3_Missense_Mutation_p.E189Q|RAP1GDS1_uc003hua.3_Missense_Mutation_p.E146Q NM_001100427 NP_001093897 P52306 GDS1_HUMAN RAP1, GTP-GDP dissociation stimulator 1 isoform 237 binding|GTPase activator activity ovary(1)|lung(1)|breast(1) 3 OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576) GAAACAAATAGAACATGATAA 0.318 NaN T NUP98 T-ALL 0 0 0 0.004482 0 9 25 ANK2 287 broad.mit.edu 37 4 114278820 114278820 + Missense_Mutation SNP G G A rs149963885 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:114278820G>A uc003ibe.3 + 38 9146 c.9046G>A c.(9046-9048)GAG>AAG p.E3016K ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.E318K|ANK2_uc011cgb.1_Missense_Mutation_p.E3031K NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2983 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TTCATCTTTCGAGCCTACTAT 0.398 NaN 0 0 0 0.00361 0 42 76 SYNPO2 171024 broad.mit.edu 37 4 119951529 119951529 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:119951529G>A uc003icm.3 + 4 1795 c.1599G>A c.(1597-1599)ACG>ACA p.T533T SYNPO2_uc010ina.2_Silent_p.T533T|SYNPO2_uc010inb.2_Silent_p.T533T|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Silent_p.T461T NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 533 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 TGAGAACCACGACTTCTTACC 0.507 NaN 0 0 0 0.003954 0 23 20 OTUD4 54726 broad.mit.edu 37 4 146059006 146059006 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:146059006G>A uc003ika.3 - 21 2864 c.2726C>T c.(2725-2727)ACT>ATT p.T909I OTUD4_uc003ijz.3_Missense_Mutation_p.T908I NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 973 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) AACAGGCACAGTTTCTCTCTC 0.463 NaN 0 0 0 0.009096 0 4 133 MORF4 10934 broad.mit.edu 37 4 174537213 174537213 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:174537213C>G uc011cke.1 - 1 582 c.582G>C c.(580-582)AAG>AAC p.K194N NM_006792 NP_006783 mortality factor 4 0 Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107) all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AAGCAAGGCTCTTCTCATTCA 0.438 NaN 0 0 0 0.007291 0 25 46 ADAMTS16 170690 broad.mit.edu 37 5 5239991 5239991 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:5239991G>A uc003jdl.2 + 16 2614 c.2476G>A c.(2476-2478)GAG>AAG p.E826K ADAMTS16_uc003jdk.1_Missense_Mutation_p.E826K NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 826 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TAATGAGCCCGAGAACTTAAT 0.517 NaN 0 0 0 0.009535 0 27 118 KIAA0947 23379 broad.mit.edu 37 5 5460802 5460802 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:5460802C>T uc003jdm.3 + 13 1577 c.1355C>T c.(1354-1356)TCT>TTT p.S452F NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 452 ovary(1)|central_nervous_system(1) 2 CTGAGAGAATCTTCTGCCACA 0.408 NaN 0 0 0 0.006214 0 7 27 RICTOR 253260 broad.mit.edu 37 5 38947495 38947495 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:38947495C>T uc003jlp.2 - 32 4209 c.4185G>A c.(4183-4185)TTG>TTA p.L1395L RICTOR_uc003jlo.2_Silent_p.L1419L|RICTOR_uc010ivf.2_Silent_p.L1110L NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1395 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding p.L1395L(1) ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TAATAGGACTCAATAAATCTT 0.373 NaN 0 0 0 0.010818 0 34 30 MAP1B 4131 broad.mit.edu 37 5 71494799 71494799 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:71494799C>T uc003kbw.3 + 5 5858 c.5617C>T c.(5617-5619)CAA>TAA p.Q1873* MAP1B_uc010iyw.1_Nonsense_Mutation_p.Q1890*|MAP1B_uc010iyx.1_Nonsense_Mutation_p.Q1747*|MAP1B_uc010iyy.1_Nonsense_Mutation_p.Q1747* NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1873 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTATGCCTATCAAAAGCCTGA 0.473 NaN 0 0 0 0.010818 0 29 7 CHD1 1105 broad.mit.edu 37 5 98236691 98236691 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:98236691T>C uc003knf.2 - 6 831 c.683A>G c.(682-684)GAT>GGT p.D228G NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 228 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) ACTTCTTTTATCATTATCATA 0.363 NaN 0 0 0 0.00499 0 15 20 PPP2CA 5515 broad.mit.edu 37 5 133536147 133536147 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:133536147C>T uc003kze.2 - 5 1015 c.617G>A c.(616-618)CGT>CAT p.R206H NM_002715 NP_002706 P67775 PP2AA_HUMAN protein phosphatase 2, catalytic subunit, alpha 206 ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|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|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole metal ion binding|phosphoprotein phosphatase activity ovary(2)|lung(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Vitamin E(DB00163) CCAACCACCACGGTCATCTGG 0.413 NaN 0 0 0 0.00874 0 36 12 PURA 5813 broad.mit.edu 37 5 139494256 139494256 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:139494256C>T uc003lfa.2 + 1 549 c.490C>T c.(490-492)CGC>TGC p.R164C NM_005859 NP_005850 Q00577 PURA_HUMAN purine-rich element binding protein A 164 DNA unwinding involved in replication|DNA-dependent DNA replication initiation DNA replication factor A complex double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGAACCAGCGCGGCCGCTT 0.692 NaN 0 0 0 0.001855 0 11 30 WDR55 54853 broad.mit.edu 37 5 140048746 140048746 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140048746G>A uc003lgr.3 + 6 857 c.743G>A c.(742-744)CGC>CAC p.R248H WDR55_uc011czl.1_Missense_Mutation_p.R87H NM_017706 NP_060176 Q9H6Y2 WDR55_HUMAN WD repeat domain 55 248 rRNA processing cytoplasm|nucleolus ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGTGACCGCTTTGCCCTG 0.532 NaN 0 0 0 0.00308 0 8 72 PCDHA2 56146 broad.mit.edu 37 5 140175513 140175513 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140175513G>A uc003lhd.2 + 1 1070 c.964G>A c.(964-966)GCA>ACA p.A322T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Missense_Mutation_p.A322T|PCDHA2_uc011czy.1_Missense_Mutation_p.A322T NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 322 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGGTCACTGCAACTGACAA 0.378 NaN 0 0 0 0.010729 0 12 35 PCDHB16 57717 broad.mit.edu 37 5 140563916 140563916 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140563916C>T uc003liv.2 + 1 2937 c.1782C>T c.(1780-1782)GGC>GGT p.G594G PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 594 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)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGGTGGACGGCGACTCGGGCC 0.706 NaN 0 0 0 0.001168 0 4 52 PCDHB9 56127 broad.mit.edu 37 5 140569002 140569002 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140569002C>T uc003liw.1 + 3 2111 c.2111C>T c.(2110-2112)TCG>TTG p.S704L PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 704 Helical; (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCCTCCTCTCGGTGCTCCTG 0.701 NaN 0 0 0 0.00361 0 99 204 PCDHGB5 56101 broad.mit.edu 37 5 140779598 140779598 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140779598G>A uc003lkf.1 + 1 1904 c.1904G>A c.(1903-1905)CGC>CAC p.R635H PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.R635H|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 635 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACGCGGCCCGCCAGCGCCTG 0.687 NaN 0 0 0 0.00245 0 15 29 DIAPH1 1729 broad.mit.edu 37 5 140953172 140953172 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140953172G>A uc003llb.3 - 16 2386 c.2245C>T c.(2245-2247)CCA>TCA p.P749S DIAPH1_uc003llc.3_Missense_Mutation_p.P740S|DIAPH1_uc010jgc.1_Missense_Mutation_p.P188S NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 749 FH1. regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane actin binding|receptor binding|Rho GTPase binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGGAGGTGGAGGCATACCC 0.587 NaN 0 0 0 0.003163 0 14 34 ARHGAP26 23092 broad.mit.edu 37 5 142435652 142435652 + Splice_Site SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:142435652G>T uc011dbj.1 + 16 1467 c.1432_splice c.e16+1 p.K478_splice ARHGAP26_uc003lmt.2_Splice_Site_p.K478_splice|ARHGAP26_uc003lmw.2_Splice_Site_p.K478_splice NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAAGCAGCAAGTAAGTCTTTT 0.353 NaN 1 0 2.05212e-20 0.005524 2.21333e-20 33 55 ARSI 340075 broad.mit.edu 37 5 149676860 149676860 + Missense_Mutation SNP G G A rs142267983 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:149676860G>A uc003lrv.2 - 2 2216 c.1627C>T c.(1627-1629)CGT>TGT p.R543C NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 543 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TTCTTGCGACGACCCCGGGAG 0.547 NaN 0 0 0 0.00361 0 42 96 ODZ2 57451 broad.mit.edu 37 5 167642220 167642220 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:167642220G>A uc010jjd.2 + 21 3994 c.3994G>A c.(3994-3996)GAA>AAA p.E1332K ODZ2_uc003lzr.3_Missense_Mutation_p.E1102K|ODZ2_uc003lzt.3_Missense_Mutation_p.E705K|ODZ2_uc010jje.2_Missense_Mutation_p.E596K NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) ACCCTTTGATGAAGCCCGCTG 0.557 NaN 0 0 0 0.00361 0 105 23 RANBP17 64901 broad.mit.edu 37 5 170319554 170319554 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:170319554C>G uc003mba.2 + 4 436 c.420C>G c.(418-420)CTC>CTG p.L140L RANBP17_uc003max.1_RNA|RANBP17_uc003may.1_RNA|RANBP17_uc003maz.1_RNA|RANBP17_uc010jjr.1_RNA|RANBP17_uc003maw.2_Silent_p.L140L|RANBP17_uc011dew.1_Silent_p.L140L NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 140 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AGAAGTTTCTCCAGGTAAGAA 0.348 NaN T TRD@ ALL 0 0 0 0.009535 0 25 69 RANBP17 64901 broad.mit.edu 37 5 170610195 170610195 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:170610195G>A uc003mba.2 + 17 1906 c.1890G>A c.(1888-1890)GTG>GTA p.V630V RANBP17_uc003mbb.2_Intron|RANBP17_uc003mbd.2_5'UTR|RANBP17_uc010jjs.2_RNA|RANBP17_uc003mbc.2_5'UTR NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 630 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) AAAAACTTGTGAAGATAGATG 0.264 NaN T TRD@ ALL 0 0 0 0.002299 0 18 1 BMP6 654 broad.mit.edu 37 6 7727603 7727603 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:7727603C>T uc003mxu.3 + 1 593 c.415C>T c.(415-417)CTG>TTG p.L139L NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 139 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) CATGCTGGATCTGTACAACGC 0.597 NaN 0 0 0 0.012319 0 19 55 BMP6 654 broad.mit.edu 37 6 7727750 7727750 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:7727750C>T uc003mxu.3 + 1 740 c.562C>T c.(562-564)CTG>TTG p.L188L NM_001718 NP_001709 P22004 BMP6_HUMAN bone morphogenetic protein 6 preproprotein 188 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity large_intestine(2)|ovary(1) 3 Ovarian(93;0.0721) CAAGAGCCTTCTGGCCCCCGG 0.711 NaN 0 0 0 0.004007 0 13 23 TXNDC5 81567 broad.mit.edu 37 6 7891866 7891866 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:7891866G>A uc003mxv.2 - 5 752 c.720C>T c.(718-720)GTC>GTT p.V240V TXNDC5_uc003mxw.2_Silent_p.V197V|TXNDC5_uc010jnz.2_Silent_p.V132V|TXNDC5_uc010joa.1_Silent_p.V132V NM_030810 NP_110437 Q8NBS9 TXND5_HUMAN thioredoxin domain containing 5 isoform 1 240 Thioredoxin 2. anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport endoplasmic reticulum lumen|lysosomal lumen electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity 0 Ovarian(93;0.0398) TGCCAATCTTGACAGTTTCGG 0.493 NaN 0 0 0 0.00623 0 35 128 RANBP9 10048 broad.mit.edu 37 6 13711709 13711709 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:13711709G>T uc003nbb.2 - 1 88 c.29C>A c.(28-30)CCG>CAG p.P10Q NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 10 Poly-Pro. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) ctgctgctgcggcggcggcgg 0.517 NaN 1 0 0.00448238 0.004482 0.00453746 8 69 SOX4 6659 broad.mit.edu 37 6 21595158 21595158 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:21595158G>T uc003ndi.2 + 1 1187 c.393G>T c.(391-393)AGG>AGT p.R131S NM_003107 NP_003098 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 131 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity 0 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) ACCGGCCCAGGAAGAAGGTGA 0.557 NaN 1 0 2.0095e-06 0.001984 2.06271e-06 5 215 NRSN1 140767 broad.mit.edu 37 6 24145869 24145869 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:24145869G>A uc010jpq.1 + 4 520 c.283G>A c.(283-285)GAA>AAA p.E95K NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 95 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 AGCATTTGGCGAAGCCGATTT 0.507 NaN 0 0 0 0.00361 0 47 208 HIST1H2BE 8344 broad.mit.edu 37 6 26184245 26184245 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:26184245C>T uc003ngt.2 + 1 222 c.222C>T c.(220-222)ATC>ATT p.I74I NM_003523 NP_003514 P62807 H2B1C_HUMAN histone cluster 1, H2be 74 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 TCGAGCGCATCGCCGGCGAGG 0.607 NaN 0 0 0 0.00361 0 292 26 BTN3A1 11119 broad.mit.edu 37 6 26408131 26408131 + Missense_Mutation SNP C C G rs140260146 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:26408131C>G uc003nhv.2 + 4 1034 c.666C>G c.(664-666)ATC>ATG p.I222M BTN3A1_uc011dkj.1_Missense_Mutation_p.I222M|BTN3A1_uc011dkk.1_Missense_Mutation_p.I170M|BTN3A1_uc010jqj.2_Missense_Mutation_p.I222M NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a 222 Ig-like V-type 2.|Extracellular (Potential). lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 CCTGTACCATCAGAAGTTCCC 0.557 NaN 0 0 0 0.00361 0 221 16 BTN1A1 696 broad.mit.edu 37 6 26505305 26505305 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:26505305C>G uc003nif.3 + 3 600 c.580C>G c.(580-582)CCT>GCT p.P194A NM_001732 NP_001723 Q13410 BT1A1_HUMAN butyrophilin, subfamily 1, member A1 precursor 194 Extracellular (Potential).|Ig-like V-type 2. extracellular region|integral to plasma membrane receptor activity ovary(1)|skin(1) 2 GTCCAGGAATCCTGATGAAGA 0.502 NaN 0 0 0 0.00361 0 88 6 HIST1H4I 8294 broad.mit.edu 37 6 27107240 27107240 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:27107240C>G uc003niy.1 + 1 153 c.153C>G c.(151-153)ATC>ATG p.I51M HIST1H2BK_uc003nix.1_Intron NM_003495 NP_003486 P62805 H4_HUMAN histone cluster 1, H4i 51 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 CTGGCCTCATCTATGAGGAGA 0.637 NaN T BCL6 NHL 0 0 0 0.00361 0 185 141 BAT2 7916 broad.mit.edu 37 6 31591626 31591626 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:31591626C>T uc003nvb.3 + 3 479 c.230C>T c.(229-231)TCA>TTA p.S77L BAT2_uc011dnv.1_RNA|BAT2_uc003nvc.3_Missense_Mutation_p.S77L|BAT2_uc003nve.2_5'Flank NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 77 4 X 57 AA type A repeats.|1-1. cytoplasm|nucleus protein binding 0 CCCAATGTCTCACTAGTGCCA 0.547 NaN 0 0 0 0.004656 0 19 89 PHF1 5252 broad.mit.edu 37 6 33380128 33380128 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:33380128C>T uc003oeh.2 + 2 324 c.88C>T c.(88-90)CGG>TGG p.R30W PHF1_uc011drh.1_RNA|PHF1_uc003oei.2_Missense_Mutation_p.R30W|PHF1_uc010jux.2_5'UTR NM_024165 NP_077084 O43189 PHF1_HUMAN PHD finger protein 1 isoform b 30 chromatin modification nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Ovarian(999;0.0443) CCCCAGGCCTCGGCTTTGGGA 0.607 NaN 0 0 0 0.002836 0 28 7 FGD2 221472 broad.mit.edu 37 6 36982667 36982667 + Splice_Site SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:36982667G>A uc010jwp.1 + 8 1054 c.883_splice c.e8-1 p.E295_splice FGD2_uc003ong.2_Splice_Site_p.E17_splice|FGD2_uc011dtv.1_Splice_Site|FGD2_uc003oni.1_Splice_Site_p.E101_splice NM_173558 NP_775829 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding upper_aerodigestive_tract(1)|lung(1)|pancreas(1) 3 CAACCCCCTAGGAGCGGCTGC 0.652 NaN 0 0 0 0.007291 0 24 292 CYP39A1 51302 broad.mit.edu 37 6 46593206 46593206 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:46593206C>T uc003oyf.1 - 7 1084 c.880G>A c.(880-882)GAT>AAT p.D294N CYP39A1_uc011dwa.1_Missense_Mutation_p.D274N|CYP39A1_uc010jzd.1_Missense_Mutation_p.D122N NM_016593 NP_057677 Q9NYL5 CP39A_HUMAN cytochrome P450, family 39, subfamily A, 294 bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(1) 1 TTGTGGATATCAGGATGAGAA 0.343 NaN 0 0 0 0.00361 0 142 112 PLA2G7 7941 broad.mit.edu 37 6 46682224 46682224 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:46682224A>G uc010jzf.2 - 5 712 c.443T>C c.(442-444)GTT>GCT p.V148A PLA2G7_uc010jzg.1_Missense_Mutation_p.V148A|PLA2G7_uc011dwd.1_Missense_Mutation_p.V103A|PLA2G7_uc011dwe.1_Missense_Mutation_p.V21A NM_005084 NP_005075 Q13093 PAFA_HUMAN phospholipase A2, group VII 148 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding 0 Lung(136;0.192) ATGAGAAAAAACAACAAGTGG 0.368 NaN 0 0 0 0.00361 0 58 477 KLHL31 401265 broad.mit.edu 37 6 53516582 53516582 + Nonsense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:53516582C>T uc003pcb.3 - 3 1860 c.1719G>A c.(1717-1719)TGG>TGA p.W573* uc003pcc.1_5'UTR NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 573 Kelch 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) CGCCCTCGTTCCAGCCCCCCA 0.687 NaN 0 0 0 0.004007 0 15 41 KLHL31 401265 broad.mit.edu 37 6 53516760 53516760 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:53516760C>G uc003pcb.3 - 3 1682 c.1541G>C c.(1540-1542)AGA>ACA p.R514T uc003pcc.1_Missense_Mutation_p.S51C NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) CACGTACACTCTGTCGCTCAG 0.716 NaN 0 0 0 0.000602 0 3 10 DST 667 broad.mit.edu 37 6 56505039 56505039 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:56505039G>T uc003pdf.2 - 17 2321 c.2293C>A c.(2293-2295)CCC>ACC p.P765T DST_uc003pcz.3_Missense_Mutation_p.P587T|DST_uc011dxj.1_Missense_Mutation_p.P616T|DST_uc011dxk.1_Missense_Mutation_p.P627T|DST_uc011dxl.1_Missense_Mutation_p.P616T|DST_uc003pcy.3_Missense_Mutation_p.P261T|DST_uc003pdb.2_Missense_Mutation_p.P261T|DST_uc003pdc.3_Missense_Mutation_p.P261T|DST_uc003pdd.3_Missense_Mutation_p.P261T|DST_uc003pde.2_Missense_Mutation_p.P703T NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 587 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TTTAGAAGGGGTTTTCGGATC 0.368 NaN 1 0 8.12818e-05 0.001984 8.31751e-05 7 35 DST 667 broad.mit.edu 37 6 56716381 56716381 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:56716381G>C uc003pdf.2 - 4 467 c.439C>G c.(439-441)CGC>GGC p.R147G DST_uc011dxj.1_Translation_Start_Site|DST_uc011dxk.1_Missense_Mutation_p.R9G|DST_uc011dxl.1_Translation_Start_Site NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:Variant_position_missing_in_Q03001_after_alignment cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATAGAGCAGCGATAGGACGCG 0.478 NaN OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004482 0 6 13 PHF3 23469 broad.mit.edu 37 6 64416024 64416024 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:64416024C>T uc003pep.1 + 11 3499 c.3473C>T c.(3472-3474)GCA>GTA p.A1158V PHF3_uc010kah.1_Missense_Mutation_p.A972V|PHF3_uc003pen.2_Missense_Mutation_p.A1070V|PHF3_uc011dxs.1_Missense_Mutation_p.A427V NM_015153 NP_055968 Q92576 PHF3_HUMAN PHD finger protein 3 1158 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding ovary(3)|lung(1)|skin(1) 5 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) ATAGCAGATGCATTATCTTCA 0.398 NaN 0 0 0 0.001368 0 12 27 BAI3 577 broad.mit.edu 37 6 70034888 70034888 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:70034888G>A uc003pev.3 + 21 3387 c.2939G>A c.(2938-2940)AGA>AAA p.R980K BAI3_uc010kak.2_Missense_Mutation_p.R980K|BAI3_uc011dxx.1_Missense_Mutation_p.R186K|BAI3_uc003pex.1_Missense_Mutation_p.R110K NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 980 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CGGCTTATAAGAAAACGCTTT 0.398 NaN 0 0 0 0.008871 0 17 50 KCNQ5 56479 broad.mit.edu 37 6 73904395 73904395 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:73904395G>A uc003pgk.2 + 14 2404 c.2057G>A c.(2056-2058)AGA>AAA p.R686K KCNQ5_uc011dyh.1_Missense_Mutation_p.R705K|KCNQ5_uc011dyi.1_Missense_Mutation_p.R696K|KCNQ5_uc010kat.2_Missense_Mutation_p.R677K|KCNQ5_uc011dyj.1_Missense_Mutation_p.R576K|KCNQ5_uc011dyk.1_Missense_Mutation_p.R436K NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 686 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AACATCTCGAGAGGCCTGCAG 0.488 NaN 0 0 0 0.00361 0 71 70 DDX43 55510 broad.mit.edu 37 6 74119057 74119057 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:74119057G>A uc003pgw.2 + 10 1610 c.1266G>A c.(1264-1266)CAG>CAA p.Q422Q NM_018665 NP_061135 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 422 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 CAGATAGGCAGACAGTTATGA 0.383 NaN 0 0 0 0.00361 0 47 138 LCA5 167691 broad.mit.edu 37 6 80223183 80223183 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:80223183C>T uc003pix.2 - 3 901 c.466G>A c.(466-468)GAA>AAA p.E156K LCA5_uc003piy.2_Missense_Mutation_p.E156K|LCA5_uc011dyq.1_RNA|LCA5_uc011dyr.1_Missense_Mutation_p.E156K NM_001122769 NP_001116241 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 156 Potential. protein transport cilium axoneme|microtubule basal body protein binding 0 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) TGTGAGATTTCATTTTCGGCA 0.378 NaN 0 0 0 0.012319 0 18 16 SLC35A1 10559 broad.mit.edu 37 6 88210332 88210332 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:88210332C>G uc011dzj.1 + 3 380 c.301C>G c.(301-303)CAG>GAG p.Q101E SLC35A1_uc003plx.2_RNA|SLC35A1_uc010kbw.2_5'UTR|SLC35A1_uc003plz.2_Intron|SLC35A1_uc011dzi.1_Intron|SLC35A1_uc003ply.2_RNA|SLC35A1_uc010kbx.2_Missense_Mutation_p.Q101E|SLC35A1_uc010kby.2_RNA NM_006416 NP_006407 P78382 S35A1_HUMAN solute carrier family 35 (CMP-sialic acid 101 Helical; (Potential). carbohydrate metabolic process|protein modification process Golgi membrane|integral to plasma membrane CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity 0 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0429) GTATGCTGTTCAGAACAACAT 0.413 NaN 0 0 0 0.004289 0 30 23 RARS2 57038 broad.mit.edu 37 6 88299660 88299660 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:88299660G>A uc003pme.2 - 1 76 c.16C>T c.(16-18)CGC>TGC p.R6C ORC3L_uc011dzl.1_5'Flank|ORC3L_uc011dzm.1_5'Flank|ORC3L_uc011dzn.1_5'Flank|ORC3L_uc003pmg.2_5'Flank|ORC3L_uc003pmh.2_5'Flank|ORC3L_uc003pmi.2_5'Flank|ORC3L_uc011dzo.1_5'Flank|ORC3L_uc011dzp.1_5'Flank|RARS2_uc003pmb.2_5'UTR|RARS2_uc003pmc.2_5'UTR|RARS2_uc003pmd.2_5'UTR|RARS2_uc003pmf.2_RNA NM_020320 NP_064716 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial 6 arginyl-tRNA aminoacylation mitochondrial matrix arginine-tRNA ligase activity|ATP binding|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0456) ATAGCGCGGCGAAAGCCGCAC 0.672 NaN OREG0031911 type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET) 0 0 0 0.00361 0 45 25 GJA10 84694 broad.mit.edu 37 6 90605283 90605283 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:90605283C>G uc011eaa.1 + 1 1096 c.1096C>G c.(1096-1098)CAG>GAG p.Q366E NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 366 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TACAATGTCTCAGTCCTGGCT 0.552 NaN 0 0 0 0.00361 0 95 65 BACH2 60468 broad.mit.edu 37 6 90661329 90661329 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:90661329C>T uc011eab.1 - 7 1305 c.496G>A c.(496-498)GAA>AAA p.E166K BACH2_uc003pnw.2_Missense_Mutation_p.E166K|BACH2_uc010kch.2_Missense_Mutation_p.E166K NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 166 Poly-Glu. 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) TCCTCCTCTTCATCCTCCTCC 0.612 NaN 0 0 0 0.00361 0 57 41 ZBTB24 9841 broad.mit.edu 37 6 109802504 109802504 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:109802504C>G uc003ptl.1 - 2 894 c.726G>C c.(724-726)AAG>AAC p.K242N ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.K242N|ZBTB24_uc010kdt.1_RNA|ZBTB24_uc003ptm.2_Missense_Mutation_p.K242N NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) CATCCTCGGTCTTGGGATCAT 0.463 NaN 0 0 0 0.00361 0 55 104 TUBE1 51175 broad.mit.edu 37 6 112400898 112400898 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:112400898C>T uc003pvq.2 - 6 500 c.386G>A c.(385-387)AGA>AAA p.R129K TUBE1_uc003pvr.2_Missense_Mutation_p.R54K NM_016262 NP_057346 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 129 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton ovary(1) 1 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TGCCGACTTTCTGAATTTCTC 0.368 NaN 0 0 0 0.012319 0 20 28 TUBE1 51175 broad.mit.edu 37 6 112400906 112400906 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:112400906C>A uc003pvq.2 - 6 492 c.378G>T c.(376-378)GAG>GAT p.E126D TUBE1_uc003pvr.2_Missense_Mutation_p.E51D NM_016262 NP_057346 Q9UJT0 TBE_HUMAN tubulin, epsilon 1 126 centrosome cycle|microtubule-based movement|protein polymerization microtubule|pericentriolar material GTP binding|GTPase activity|structural constituent of cytoskeleton ovary(1) 1 all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1) all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246) TTCTGAATTTCTCTAAAATCT 0.358 NaN 1 0 1.01871e-10 0.008871 1.06056e-10 20 25 LAMA4 3910 broad.mit.edu 37 6 112452258 112452258 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:112452258C>T uc003pvu.2 - 29 4189 c.3880G>A c.(3880-3882)GAT>AAT p.D1294N LAMA4_uc003pvv.2_Missense_Mutation_p.D1287N|LAMA4_uc003pvt.2_Missense_Mutation_p.D1287N NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 1294 Laminin G-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CCCTTTACATCCATGATGACA 0.458 NaN 0 0 0 0.005443 0 23 42 DSE 29940 broad.mit.edu 37 6 116757927 116757927 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:116757927A>C uc003pws.2 + 6 2490 c.2296A>C c.(2296-2298)AAC>CAC p.N766H DSE_uc011ebg.1_Missense_Mutation_p.N785H|DSE_uc003pwt.2_Missense_Mutation_p.N766H|DSE_uc003pwu.2_Missense_Mutation_p.N433H NM_001080976 NP_001074445 Q9UL01 DSE_HUMAN dermatan sulfate epimerase precursor 766 dermatan sulfate biosynthetic process endoplasmic reticulum|Golgi apparatus|integral to membrane chondroitin-glucuronate 5-epimerase activity ovary(1) 1 all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234) Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262) CCGAGTCCGGAACACAGCTAG 0.478 NaN 0 0 0 0.00632 0 24 43 LAMA2 3908 broad.mit.edu 37 6 129634083 129634083 + Missense_Mutation SNP A A T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:129634083A>T uc003qbn.2 + 23 3357 c.3252A>T c.(3250-3252)AAA>AAT p.K1084N LAMA2_uc003qbo.2_Missense_Mutation_p.K1084N NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 1084 Laminin EGF-like 12. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTCATCCAAAATTCTCTGGTG 0.473 NaN 0 0 0 0.010729 0 12 18 HBS1L 10767 broad.mit.edu 37 6 135318567 135318567 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:135318567C>T uc003qez.2 - 6 974 c.767G>A c.(766-768)GGA>GAA p.G256E HBS1L_uc003qey.2_Missense_Mutation_p.G92E|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.G92E|HBS1L_uc011eda.1_Missense_Mutation_p.G214E NM_006620 NP_006611 Q9Y450 HBS1L_HUMAN Hsp70 subfamily B suppressor 1-like protein 256 signal transduction GTP binding|GTPase activity|translation elongation factor activity skin(2) 2 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702) CTGCTTCCCTCCTTGCCGCTT 0.542 NaN 0 0 0 0.004878 0 29 57 MAP3K5 4217 broad.mit.edu 37 6 136882784 136882784 + Splice_Site SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:136882784C>T uc003qhc.2 - 28 4236 c.3875_splice c.e28-1 p.E1292_splice MAP3K5_uc011edj.1_Splice_Site_p.E539_splice NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 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) TCAGGAATTTCTAGAACAGAA 0.358 NaN 0 0 0 0.004482 0 9 15 LRP11 84918 broad.mit.edu 37 6 150174190 150174190 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:150174190G>A uc003qng.2 - 2 1044 c.720C>T c.(718-720)ATC>ATT p.I240I LRP11_uc003qnh.1_Silent_p.I240I NM_032832 NP_116221 Q86VZ4 LRP11_HUMAN low density lipoprotein receptor-related protein 240 PKD.|Extracellular (Potential). integral to membrane receptor activity 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225) CATACTGGACGATGGCGTGGT 0.562 NaN 0 0 0 0.00361 0 37 32 SYNE1 23345 broad.mit.edu 37 6 152737832 152737832 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:152737832G>A uc010kiw.2 - 41 6342 c.5740C>T c.(5740-5742)CAA>TAA p.Q1914* SYNE1_uc003qot.3_Nonsense_Mutation_p.Q1921*|SYNE1_uc003qou.3_Nonsense_Mutation_p.Q1914*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q1897* NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1914 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTAGCATTTTGAAGAGCATCA 0.458 NaN HNSCC(10;0.0054) 0 0 0 0.006214 0 9 21 SYNE1 23345 broad.mit.edu 37 6 152765587 152765587 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:152765587C>T uc010kiw.2 - 30 4398 c.3796G>A c.(3796-3798)GAA>AAA p.E1266K SYNE1_uc003qot.3_Missense_Mutation_p.E1273K|SYNE1_uc003qou.3_Missense_Mutation_p.E1266K|SYNE1_uc010kjb.1_Missense_Mutation_p.E1249K|SYNE1_uc003qow.2_Missense_Mutation_p.E561K|SYNE1_uc003qox.1_Missense_Mutation_p.E782K NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1266 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AACAGATTTTCAGTATCCAAG 0.368 NaN HNSCC(10;0.0054) 0 0 0 0.012213 0 25 38 SYNE1 23345 broad.mit.edu 37 6 152768689 152768689 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr6:152768689C>G uc010kiw.2 - 29 4175 c.3573G>C c.(3571-3573)TTG>TTC p.L1191F SYNE1_uc003qot.3_Missense_Mutation_p.L1198F|SYNE1_uc003qou.3_Missense_Mutation_p.L1191F|SYNE1_uc010kjb.1_Missense_Mutation_p.L1174F|SYNE1_uc003qow.2_Missense_Mutation_p.L486F|SYNE1_uc003qox.1_Missense_Mutation_p.L707F NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1191 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) AAACTTCTGTCAAAACTTTCA 0.458 NaN HNSCC(10;0.0054) 0 0 0 0.009535 0 26 41 PAPOLB 56903 broad.mit.edu 37 7 4899851 4899851 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:4899851C>G uc003snk.2 - 1 1775 c.1591G>C c.(1591-1593)GAA>CAA p.E531Q RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 530 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) ATGCTGTTTTCACAGCCTGCA 0.468 NaN 0 0 0 0.00361 0 54 44 DNAH11 8701 broad.mit.edu 37 7 21840770 21840770 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:21840770C>T uc003svc.2 + 63 10094 c.10063C>T c.(10063-10065)CTG>TTG p.L3355L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3355 Potential.|Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGATCGAAATCTGAGCAGACT 0.373 NaN Kartagener_syndrome 0 0 0 0.004672 0 3 10 MPP6 51678 broad.mit.edu 37 7 24681456 24681456 + Missense_Mutation SNP T T G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:24681456T>G uc003swx.2 + 4 538 c.239T>G c.(238-240)TTG>TGG p.L80W MPP6_uc003swy.2_Missense_Mutation_p.L80W NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 80 L27 2. protein complex assembly protein binding 0 GTGGCAGAATTGGTTGGTATA 0.378 NaN 0 0 0 0.00245 0 11 113 TAX1BP1 8887 broad.mit.edu 37 7 27825064 27825064 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:27825064G>C uc003szl.2 + 7 966 c.808G>C c.(808-810)GAA>CAA p.E270Q TAX1BP1_uc011jzo.1_Missense_Mutation_p.E270Q|TAX1BP1_uc003szk.2_Missense_Mutation_p.E270Q|TAX1BP1_uc011jzp.1_Missense_Mutation_p.E113Q NM_006024 NP_006015 Q86VP1 TAXB1_HUMAN Tax1 (human T-cell leukemia virus type I) 270 Potential. anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production cytosol identical protein binding|kinase binding|zinc ion binding breast(1) 1 GBM - Glioblastoma multiforme(3;0.0823) AGAACAACTTGAATGTCAGTT 0.214 NaN 0 0 0 0.00361 0 45 62 NT5C3 51251 broad.mit.edu 37 7 33066465 33066465 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:33066465G>A uc003tdk.2 - 2 293 c.216C>T c.(214-216)ATC>ATT p.I72I AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Silent_p.I33I|NT5C3_uc003tdj.2_Silent_p.I33I NM_001002010 NP_001002010 Q9H0P0 5NT3_HUMAN 5'-nucleotidase, cytosolic III isoform 1 72 nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol|endoplasmic reticulum 2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 GBM - Glioblastoma multiforme(11;0.0894) TAAGACCACAGATAATTTCTT 0.264 NaN 0 0 0 0.003163 0 13 63 BBS9 27241 broad.mit.edu 37 7 33644572 33644572 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:33644572G>A uc003tdn.1 + 22 3130 c.2617G>A c.(2617-2619)GAG>AAG p.E873K BBS9_uc003tdo.1_Missense_Mutation_p.E838K|BBS9_uc003tdp.1_Missense_Mutation_p.E868K|BBS9_uc003tdq.1_Missense_Mutation_p.E833K|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Missense_Mutation_p.E397K|BBS9_uc003tds.1_Missense_Mutation_p.E296K|BBS9_uc003tdt.2_Intron NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 873 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TCTCACTGCAGAGACACCCAG 0.453 NaN Bardet-Biedl_syndrome 0 0 0 0.004007 0 15 18 POU6F2 11281 broad.mit.edu 37 7 39500145 39500145 + Splice_Site SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:39500145G>A uc003thb.1 + 9 1445 c.1403_splice c.e9-1 p.N468_splice NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 CATCTCCACAGATCCTCAAAC 0.453 NaN 0 0 0 0.005443 0 21 27 BLVRA 644 broad.mit.edu 37 7 43830958 43830958 + Missense_Mutation SNP A A G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:43830958A>G uc003tir.2 + 4 328 c.245A>G c.(244-246)GAC>GGC p.D82G BLVRA_uc010kxv.2_Missense_Mutation_p.D82G NM_000712 NP_000703 P53004 BIEA_HUMAN biliverdin reductase A precursor 82 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding ovary(1) 1 NADH(DB00157) AGCCATGAGGACTACATCAGG 0.323 NaN 0 0 0 0.00361 0 103 55 H2AFV 94239 broad.mit.edu 37 7 44880509 44880509 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:44880509G>A uc003tma.2 - 3 339 c.184C>T c.(184-186)CTC>TTC p.L62F H2AFV_uc003tlz.2_Missense_Mutation_p.L62F|H2AFV_uc003tmb.2_Intron|H2AFV_uc003tmc.2_Missense_Mutation_p.L62F|H2AFV_uc003tmd.2_Missense_Mutation_p.L36F NM_012412 NP_036544 Q71UI9 H2AV_HUMAN H2A histone family, member V isoform 1 62 nucleosome assembly nucleosome|nucleus DNA binding 0 TCTGCAGTGAGGTACTCCAGA 0.502 NaN 0 0 0 0.00361 0 86 40 TBRG4 9238 broad.mit.edu 37 7 45142089 45142089 + Missense_Mutation SNP A A C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:45142089A>C uc003tmv.2 - 7 1304 c.1178T>G c.(1177-1179)GTA>GGA p.V393G TBRG4_uc003tmu.2_Missense_Mutation_p.V218G|TBRG4_uc003tmw.2_Missense_Mutation_p.V283G|TBRG4_uc003tmx.2_Missense_Mutation_p.V283G|TBRG4_uc011kcd.1_Missense_Mutation_p.V404G NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 393 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 CTTCTCATGTACCTGGGCAAG 0.597 NaN 0 0 0 0.003954 0 24 168 DDC 1644 broad.mit.edu 37 7 50537777 50537777 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:50537777G>C uc003tpf.3 - 12 1220 c.1134C>G c.(1132-1134)ATC>ATG p.I378M DDC_uc010kza.2_Missense_Mutation_p.I293M|DDC_uc003tpg.3_Missense_Mutation_p.I378M NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 378 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) TCACCTTGCGGATATAAGCCT 0.338 NaN 0 0 0 0.009535 0 27 139 GRB10 2887 broad.mit.edu 37 7 50737442 50737442 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:50737442G>C uc003tpi.2 - 4 512 c.481C>G c.(481-483)CCG>GCG p.P161A GRB10_uc003tph.3_Missense_Mutation_p.P103A|GRB10_uc003tpj.2_Missense_Mutation_p.P161A|GRB10_uc003tpk.2_Missense_Mutation_p.P161A|GRB10_uc010kzb.2_Missense_Mutation_p.P103A|GRB10_uc003tpl.2_Missense_Mutation_p.P155A|GRB10_uc003tpm.2_Missense_Mutation_p.P103A|GRB10_uc003tpn.2_Missense_Mutation_p.P103A NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 161 insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) GCCTGGCTCGGAGGTAAAGAA 0.592 NaN Russell-Silver_syndrome 0 0 0 0.00623 0 34 31 ELN 2006 broad.mit.edu 37 7 73474260 73474260 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:73474260C>T uc003tzw.2 + 23 1568 c.1477C>T c.(1477-1479)CCT>TCT p.P493S RFC2_uc011kfa.1_Intron|ELN_uc003tzn.2_Missense_Mutation_p.P487S|ELN_uc003tzz.2_Missense_Mutation_p.P406S|ELN_uc003tzo.2_Missense_Mutation_p.P454S|ELN_uc003tzp.2_Missense_Mutation_p.P398S|ELN_uc003tzq.2_Missense_Mutation_p.P351S|ELN_uc003tzr.2_Intron|ELN_uc003tzs.2_Missense_Mutation_p.P468S|ELN_uc003tzt.2_Missense_Mutation_p.P492S|ELN_uc003tzu.2_Missense_Mutation_p.P473S|ELN_uc003tzv.2_Missense_Mutation_p.P458S|ELN_uc003tzx.2_Missense_Mutation_p.P477S|ELN_uc011kff.1_Missense_Mutation_p.P487S|ELN_uc003tzy.2_Missense_Mutation_p.P463S NM_000501 NP_001075224 P15502 ELN_HUMAN elastin isoform a precursor 516 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding ovary(3)|pancreas(2) 5 Lung NSC(55;0.159) Rofecoxib(DB00533) TGGCGTGGCTCCTGGTGTCGG 0.547 NaN T PAX5 B-ALL Supravalvular Aortic Stenosis|Cutis laxa |Williams-Beuren Syndrome 0 0 0 0.00361 0 130 179 FGL2 10875 broad.mit.edu 37 7 76828885 76828885 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:76828885C>G uc003ugb.2 - 1 266 c.226G>C c.(226-228)GAG>CAG p.E76Q CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN fibrinogen-like 2 precursor 76 Potential. signal transduction fibrinogen complex receptor binding skin(2) 2 AACACCTCCTCGATCCTGCTG 0.507 NaN 0 0 0 0.009535 0 27 85 SEMA3E 9723 broad.mit.edu 37 7 82997265 82997265 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:82997265C>T uc003uhy.1 - 17 2431 c.1965G>A c.(1963-1965)CAG>CAA p.Q655Q NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 655 Ig-like C2-type. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) GCTCTACTGTCTGGCAAAAAT 0.443 NaN 0 0 0 0.009718 0 38 62 ADAM22 53616 broad.mit.edu 37 7 87757967 87757967 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:87757967G>C uc003ujn.2 + 9 808 c.729G>C c.(727-729)CTG>CTC p.L243L ADAM22_uc003uji.1_Silent_p.L242L|ADAM22_uc003ujj.1_Silent_p.L243L|ADAM22_uc003ujk.1_Silent_p.L243L|ADAM22_uc003ujl.1_Silent_p.L243L|ADAM22_uc003ujm.2_Silent_p.L243L|ADAM22_uc003ujo.2_Silent_p.L243L|ADAM22_uc003ujp.1_Silent_p.L295L NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 243 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) ACATTGAACTGATGATTGTGA 0.383 NaN 0 0 0 0.007835 0 31 51 C7orf64 84060 broad.mit.edu 37 7 92158136 92158136 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:92158136G>A uc003ulz.2 + 1 50 c.9G>A c.(7-9)TCG>TCA p.S3S PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Silent_p.S3S|C7orf64_uc003uma.2_Silent_p.S3S NM_032120 NP_115496 Q5RL73 CG064_HUMAN hypothetical protein LOC84060 3 nucleotide binding ovary(2) 2 AGATGGCGTCGAGCGGCGGGG 0.567 NaN 0 0 0 0.003271 0 28 35 TRRAP 8295 broad.mit.edu 37 7 98522777 98522777 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:98522777G>A uc003upp.2 + 22 3075 c.2866G>A c.(2866-2868)GAG>AAG p.E956K TRRAP_uc011kis.1_Missense_Mutation_p.E956K|TRRAP_uc003upr.2_Missense_Mutation_p.E648K NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 956 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) CGCCAACACTGAGCCCTACTA 0.507 NaN 0 0 0 0.00361 0 44 68 TRRAP 8295 broad.mit.edu 37 7 98534849 98534849 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:98534849G>A uc003upp.2 + 29 4391 c.4182G>A c.(4180-4182)CTG>CTA p.L1394L TRRAP_uc011kis.1_Silent_p.L1394L|TRRAP_uc003upr.2_Silent_p.L1086L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1394 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TCAAAGCCCTGAATTCCACCA 0.363 NaN 0 0 0 0.00361 0 49 203 PILRA 29992 broad.mit.edu 37 7 99995535 99995535 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:99995535G>T uc003uuo.1 + 4 919 c.707G>T c.(706-708)AGG>ATG p.R236M PILRA_uc011kjo.1_Missense_Mutation_p.R163M|PILRA_uc003uup.1_Missense_Mutation_p.R163M|PILRA_uc003uuq.1_Intron NM_013439 NP_038467 Q9UKJ1 PILRA_HUMAN paired immunoglobulin-like type 2 receptor alpha 236 Cytoplasmic (Potential). interspecies interaction between organisms extracellular region|integral to membrane|plasma membrane protein binding|receptor activity skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ACCCCAGCCAGGTGAGTGCTG 0.612 NaN 1 0 4.65686e-17 0.003755 4.98194e-17 32 126 TFR2 7036 broad.mit.edu 37 7 100231073 100231073 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:100231073C>T uc003uvv.1 - 4 621 c.580G>A c.(580-582)GAC>AAC p.D194N TFR2_uc010lhc.1_5'Flank|TFR2_uc003uvu.1_Missense_Mutation_p.D23N NM_003227 NP_003218 Q9UP52 TFR2_HUMAN transferrin receptor 2 194 Extracellular (Potential). cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity ovary(1)|pancreas(1) 2 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TAGTGCGTGTCGGTCCACACG 0.512 NaN 0 0 0 0.00333 0 20 29 ZAN 7455 broad.mit.edu 37 7 100363105 100363105 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:100363105C>T uc003uwj.2 + 23 4563 c.4398C>T c.(4396-4398)TTC>TTT p.F1466F ZAN_uc003uwk.2_Silent_p.F1466F|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.F43F NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1466 TIL 2.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) ATCCGGGCTTCGTCCTCAGTG 0.627 NaN 0 0 0 0.004007 0 16 25 FEZF1 389549 broad.mit.edu 37 7 121942239 121942239 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:121942239C>T uc003vkd.2 - 4 1314 c.1240G>A c.(1240-1242)GAC>AAC p.D414N FEZF1_uc003vkc.2_Missense_Mutation_p.D364N|uc010lko.1_5'Flank NM_001024613 NP_001019784 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 isoform 1 414 C2H2-type 6. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1) 3 TTCTTGAGGTCAAAGTTCCTG 0.527 NaN 0 0 0 0.010771 0 42 141 IQUB 154865 broad.mit.edu 37 7 123092843 123092843 + Nonsense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:123092843G>C uc003vkn.2 - 13 2907 c.2330C>G c.(2329-2331)TCA>TGA p.S777* IQUB_uc011kny.1_Nonsense_Mutation_p.S110*|IQUB_uc003vko.2_Nonsense_Mutation_p.S777*|IQUB_uc010lkt.2_RNA NM_178827 NP_849149 Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 777 ovary(3)|large_intestine(1) 4 TGTTGTGTCTGAGTGATACTT 0.398 NaN 0 0 0 0.008871 0 18 19 RBM28 55131 broad.mit.edu 37 7 127978389 127978389 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:127978389C>T uc003vmp.2 - 5 571 c.456G>A c.(454-456)AAG>AAA p.K152K RBM28_uc003vmo.2_5'Flank|RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Silent_p.K99K NM_018077 NP_060547 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 152 RRM 2. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding ovary(2) 2 AACCGCGCATCTTCCCATCTG 0.418 NaN 0 0 0 0.00499 0 14 51 KIAA1147 57189 broad.mit.edu 37 7 141364706 141364706 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:141364706C>A uc003vwk.2 - 7 1101 c.1101G>T c.(1099-1101)CAG>CAT p.Q367H NM_001080392 NP_001073861 A4D1U4 LCHN_HUMAN hypothetical protein LOC57189 367 ovary(1) 1 Melanoma(164;0.0171) GCCACTACCTCTGCTCGTTGA 0.597 NaN 1 0 9.16793e-09 0.00499 9.48456e-09 11 19 NOBOX 135935 broad.mit.edu 37 7 144097329 144097329 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:144097329C>T uc011kue.1 - 5 921 c.921G>A c.(919-921)CAG>CAA p.Q307Q NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 307 Homeobox. cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) CCCCCACCGTCTGGGCAATCT 0.552 NaN 0 0 0 0.002836 0 30 60 NOS3 4846 broad.mit.edu 37 7 150696118 150696118 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:150696118G>A uc003wif.2 + 8 1197 c.901G>A c.(901-903)GAA>AAA p.E301K NOS3_uc011kuy.1_Missense_Mutation_p.E95K|NOS3_uc011kuz.1_Missense_Mutation_p.E301K|NOS3_uc011kva.1_Missense_Mutation_p.E301K|NOS3_uc011kvb.1_Missense_Mutation_p.E301K NM_000603 NP_000594 P29474 NOS3_HUMAN nitric oxide synthase 3 isoform 1 301 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding central_nervous_system(5)|large_intestine(2)|skin(1) 8 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) TGATCCCCCAGAACTCTTCCT 0.657 NaN 0 0 0 0.00361 0 44 227 ATG9B 285973 broad.mit.edu 37 7 150714325 150714325 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:150714325G>C uc011kvc.1 - 9 2163 c.2087C>G c.(2086-2088)TCT>TGT p.S696C ATG9B_uc003wig.3_RNA NM_173681 NP_775952 Q674R7 ATG9B_HUMAN ATG9 autophagy related 9 homolog B 696 Cytoplasmic (By similarity). autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane ovary(1) 1 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CGCACGCTGAGACAGCGAGGC 0.592 NaN 0 0 0 0.00632 0 23 31 ATG9B 285973 broad.mit.edu 37 7 150714331 150714331 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:150714331G>A uc011kvc.1 - 9 2157 c.2081C>T c.(2080-2082)TCG>TTG p.S694L ATG9B_uc003wig.3_RNA NM_173681 NP_775952 Q674R7 ATG9B_HUMAN ATG9 autophagy related 9 homolog B 694 Cytoplasmic (By similarity). autophagic vacuole assembly autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane ovary(1) 1 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTGAGACAGCGAGGCCTCAGT 0.582 NaN 0 0 0 0.00632 0 24 35 WDR60 55112 broad.mit.edu 37 7 158672547 158672547 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:158672547C>T uc003woe.3 + 5 904 c.746C>T c.(745-747)TCT>TTT p.S249F WDR60_uc010lqv.2_RNA NM_018051 NP_060521 Q8WVS4 WDR60_HUMAN WD repeat domain 60 249 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) AATTCATTCTCTGACAAAGGG 0.398 NaN 0 0 0 0.001368 0 12 11 NEFM 4741 broad.mit.edu 37 8 24771416 24771416 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:24771416C>T uc003xed.3 + 1 143 c.110C>T c.(109-111)TCG>TTG p.S37L NEFM_uc011lac.1_Missense_Mutation_p.S37L|NEFM_uc010lue.2_5'Flank|uc010luc.1_3'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 37 Head. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGCTTCCGCTCGCAGTCGTGG 0.697 NaN 0 0 0 0.012319 0 17 13 CHRNA6 8973 broad.mit.edu 37 8 42611280 42611280 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:42611280C>T uc003xpj.2 - 5 1108 c.1062G>A c.(1060-1062)CTG>CTA p.L354L CHRNA6_uc011lcw.1_Silent_p.L339L NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 354 Cytoplasmic. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCCACCTCATCAGCAGGACCT 0.587 NaN 0 0 0 0.00361 0 53 38 ST18 9705 broad.mit.edu 37 8 53062480 53062480 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:53062480G>C uc003xqz.2 - 11 2020 c.1864C>G c.(1864-1866)CGA>GGA p.R622G ST18_uc011ldq.1_Missense_Mutation_p.R269G|ST18_uc011ldr.1_Missense_Mutation_p.R587G|ST18_uc011lds.1_Missense_Mutation_p.R527G|ST18_uc003xra.2_Missense_Mutation_p.R622G|ST18_uc003xrb.2_Missense_Mutation_p.R622G NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 622 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TCCAGGATTCGATTTTTTTTC 0.413 NaN 0 0 0 0.00499 0 16 77 ST18 9705 broad.mit.edu 37 8 53084386 53084386 + Silent SNP G G A rs144551525 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:53084386G>A uc003xqz.2 - 5 1191 c.1035C>T c.(1033-1035)ATC>ATT p.I345I ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Silent_p.I310I|ST18_uc011lds.1_Silent_p.I250I|ST18_uc003xra.2_Silent_p.I345I|ST18_uc003xrb.2_Silent_p.I345I NM_014682 NP_055497 O60284 ST18_HUMAN suppression of tumorigenicity 18 345 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(1) 5 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CACCCATGTCGATAACTTTGG 0.403 NaN 0 0 0 0.00361 0 37 159 RP1 6101 broad.mit.edu 37 8 55537511 55537511 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:55537511G>A uc003xsd.1 + 4 1217 c.1069G>A c.(1069-1071)GGT>AGT p.G357S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 357 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAGTAAAACTGGTCCTTCTAA 0.363 NaN 0 0 0 0.00308 0 7 18 RP1 6101 broad.mit.edu 37 8 55540055 55540055 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:55540055C>T uc003xsd.1 + 4 3761 c.3613C>T c.(3613-3615)CCA>TCA p.P1205S RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1205 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AGACATGGTTCCAATAGATCT 0.423 NaN 0 0 0 0.002299 0 20 77 NCOA2 10499 broad.mit.edu 37 8 71036267 71036267 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:71036267C>T uc003xyn.1 - 21 4307 c.4145G>A c.(4144-4146)AGC>AAC p.S1382N NCOA2_uc011lfb.1_Missense_Mutation_p.S470N NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1382 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) ACTGTACATGCTGGTGTTTGC 0.473 NaN T RUNXBP2 AML 0 0 0 0.00361 0 40 23 FAM92A1 137392 broad.mit.edu 37 8 94740514 94740514 + Missense_Mutation SNP T T C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:94740514T>C uc010maq.2 + 8 962 c.859T>C c.(859-861)TTT>CTT p.F287L FAM92A1_uc003yfv.3_RNA|FAM92A1_uc003yfx.3_RNA|FAM92A1_uc003yfw.3_RNA|FAM92A1_uc010mar.2_Missense_Mutation_p.F94L NM_145269 NP_660312 A1XBS5 F92A1_HUMAN hypothetical protein LOC137392 287 0 Breast(36;2.4e-06) BRCA - Breast invasive adenocarcinoma(8;0.0168) AGAAGAAAATTTTCTTAAGTA 0.328 NaN 0 0 0 0.010818 0 28 9 ODF1 4956 broad.mit.edu 37 8 103572771 103572771 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:103572771C>G uc003ykt.2 + 2 520 c.412C>G c.(412-414)CAA>GAA p.Q138E NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 138 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TGAACCCGATCAAGTCAAAGT 0.448 NaN 0 0 0 0.00361 0 130 55 ODF1 4956 broad.mit.edu 37 8 103572958 103572958 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:103572958C>G uc003ykt.2 + 2 707 c.599C>G c.(598-600)TCT>TGT p.S200C NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 200 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) AAGATCGAGTCTCCTTGCTAC 0.343 NaN 0 0 0 0.00361 0 29 19 ATP6V1C1 528 broad.mit.edu 37 8 104064968 104064968 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:104064968C>G uc003ykz.3 + 6 636 c.391C>G c.(391-393)CAG>GAG p.Q131E ATP6V1C1_uc010mbz.2_Missense_Mutation_p.Q56E|ATP6V1C1_uc003yla.2_Missense_Mutation_p.Q131E|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.Q56E NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 131 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) GGGAGTAACTCAGATTGATAA 0.318 NaN 0 0 0 0.008291 0 9 74 GSDMC 56169 broad.mit.edu 37 8 130789625 130789625 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:130789625G>C uc003ysr.2 - 2 1091 c.209C>G c.(208-210)TCT>TGT p.S70C NM_031415 NP_113603 Q9BYG8 GSDMC_HUMAN melanoma-derived leucine zipper, extra-nuclear 70 mitochondrion ovary(2)|skin(1) 3 TAGGACTGAAGAACTTGGCTC 0.443 NaN 0 0 0 0.010771 0 34 73 OC90 729330 broad.mit.edu 37 8 133044290 133044290 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:133044290C>A uc003ytg.2 - 11 869 c.869G>T c.(868-870)AGA>ATA p.R290I OC90_uc011lix.1_Missense_Mutation_p.R290I NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 306 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GAAGGTGAATCTGTCACAGGC 0.547 NaN 1 0 1.47857e-17 0.00361 1.58694e-17 41 275 TMEM71 137835 broad.mit.edu 37 8 133771110 133771110 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:133771110G>C uc003ytp.2 - 2 245 c.16C>G c.(16-18)CAA>GAA p.Q6E TMEM71_uc003ytn.2_Missense_Mutation_p.Q6E|TMEM71_uc003yto.2_Missense_Mutation_p.Q6E NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 6 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) GACATCAGTTGAGATATTCGG 0.348 NaN 0 0 0 0.00361 0 50 254 EPPK1 83481 broad.mit.edu 37 8 144940345 144940345 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:144940345C>T uc003zaa.1 - 2 15100 c.15087G>A c.(15085-15087)GTG>GTA p.V5029V NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 5029 Plectin 64. 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) AGGCCACGTCCACGGGCACGC 0.692 NaN 0 0 0 0.009718 0 34 663 EPPK1 83481 broad.mit.edu 37 8 144943935 144943935 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:144943935C>G uc003zaa.1 - 1 3500 c.3487G>C c.(3487-3489)GAG>CAG p.E1163Q NM_031308 NP_112598 P58107 EPIPL_HUMAN epiplakin 1 1163 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) TGCACGTCCTCCAGCAGGCCC 0.672 NaN 0 0 0 0.001168 0 5 23 HSF1 3297 broad.mit.edu 37 8 145535411 145535411 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:145535411C>G uc003zbt.3 + 8 919 c.749C>G c.(748-750)TCC>TGC p.S250C HSF1_uc003zbu.3_RNA NM_005526 NP_005517 Q00613 HSF1_HUMAN heat shock transcription factor 1 250 Regulatory domain. cytoplasm protein binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) TACAGCAGCTCCAGCCTCTAC 0.692 NaN 0 0 0 0.00361 0 41 163 KIAA1432 57589 broad.mit.edu 37 9 5772683 5772683 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:5772683G>A uc003zji.2 + 23 3592 c.3499G>A c.(3499-3501)GAG>AAG p.E1167K KIAA1432_uc003zjl.3_Missense_Mutation_p.E1130K|ERMP1_uc011lme.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1246 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) GTCAGAGCTGGAGCACATTTC 0.468 NaN 0 0 0 0.008871 0 19 128 RANBP6 26953 broad.mit.edu 37 9 6015556 6015556 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:6015556C>G uc003zjr.2 - 1 63 c.52G>C c.(52-54)GAG>CAG p.E18Q RANBP6_uc011lmf.1_Missense_Mutation_p.E18Q|RANBP6_uc003zjs.2_5'UTR NM_012416 NP_036548 O60518 RNBP6_HUMAN RAN binding protein 6 18 protein transport cytoplasm|nucleus binding ovary(3) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101) TGGTAAAACTCTTGCTTTTCT 0.552 NaN 0 0 0 0.003755 0 30 304 KIAA1797 54914 broad.mit.edu 37 9 20946772 20946772 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:20946772G>A uc003zog.1 + 32 3991 c.3628G>A c.(3628-3630)GAG>AAG p.E1210K KIAA1797_uc003zoh.1_Missense_Mutation_p.E646K NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1210 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) TACAGAGGCTGAGGATGTTAT 0.448 NaN 0 0 0 0.00361 0 97 3 IFNA4 3441 broad.mit.edu 37 9 21186998 21186998 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:21186998G>A uc003zon.2 - 1 601 c.533C>T c.(532-534)TCA>TTA p.S178L NM_021068 NP_066546 P05014 IFNA4_HUMAN interferon, alpha 4 precursor 178 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAAGTTTGTTGAAAACGAGAG 0.378 NaN 0 0 0 0.00361 0 324 34 TEK 7010 broad.mit.edu 37 9 27203074 27203074 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:27203074C>G uc003zqi.3 + 13 2608 c.2166C>G c.(2164-2166)AAC>AAG p.N722K TEK_uc011lno.1_Missense_Mutation_p.N679K|TEK_uc011lnp.1_Missense_Mutation_p.N575K|TEK_uc003zqj.1_Missense_Mutation_p.N656K NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 722 Extracellular (Potential).|Fibronectin type-III 3. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) GGTCAAGCAACCCAGCCTTTT 0.473 NaN 0 0 0 0.001855 0 10 79 NOL6 65083 broad.mit.edu 37 9 33466615 33466615 + Silent SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:33466615C>T uc003zsz.2 - 16 2144 c.2043G>A c.(2041-2043)CTG>CTA p.L681L SUGT1P1_uc010mjq.1_Intron|NOL6_uc003zsy.2_5'Flank|NOL6_uc003zta.2_Intron|NOL6_uc010mjv.2_Silent_p.L678L|NOL6_uc011lob.1_Silent_p.L629L|NOL6_uc003ztb.1_Silent_p.L681L NM_022917 NP_075068 Q9H6R4 NOL6_HUMAN nucleolar protein family 6 alpha isoform 681 rRNA processing condensed nuclear chromosome|nucleolus RNA binding p.L681L(1) ovary(2) 2 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.152) CAGACACGGTCAGTGGGAGAC 0.622 NaN OREG0019137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 94 71 GNE 10020 broad.mit.edu 37 9 36246323 36246323 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:36246323C>G uc010mlh.2 - 3 536 c.321G>C c.(319-321)ATG>ATC p.M107I CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.M107I|GNE_uc011lpl.1_Missense_Mutation_p.M48I|GNE_uc010mli.2_Missense_Mutation_p.M138I|GNE_uc010mlj.2_Missense_Mutation_p.M102I NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 107 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) CATGAACAATCATGATATCAG 0.522 NaN 0 0 0 0.007413 0 18 108 GNE 10020 broad.mit.edu 37 9 36246416 36246416 + Silent SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:36246416C>G uc010mlh.2 - 3 443 c.228G>C c.(226-228)GTG>GTC p.V76V CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Silent_p.V76V|GNE_uc011lpl.1_Silent_p.V17V|GNE_uc010mli.2_Silent_p.V107V|GNE_uc010mlj.2_Silent_p.V71V NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 76 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) CTTCTCCCCTCACAATTGTGT 0.438 NaN 0 0 0 0.007291 0 24 173 GNE 10020 broad.mit.edu 37 9 36249349 36249349 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:36249349C>T uc010mlh.2 - 2 219 c.4G>A c.(4-6)GAG>AAG p.E2K CLTA_uc003zzf.1_Intron|GNE_uc010mlg.2_Missense_Mutation_p.E2K|GNE_uc011lpl.1_Intron|GNE_uc010mli.2_Missense_Mutation_p.E33K|GNE_uc010mlj.2_Intron NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN UDP-N-acetylglucosamine-2-epimerase/N- 2 UDP-N-acetylglucosamine 2-epimerase. cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity 0 STAD - Stomach adenocarcinoma(86;0.228) CCATTCTTCTCCATGATTTGC 0.353 NaN 0 0 0 0.007413 0 17 134 DAPK1 1612 broad.mit.edu 37 9 90283556 90283556 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:90283556G>C uc004apc.2 + 19 2106 c.1968G>C c.(1966-1968)GAG>GAC p.E656D DAPK1_uc004apd.2_Missense_Mutation_p.E656D|DAPK1_uc011ltg.1_Missense_Mutation_p.E656D|DAPK1_uc011lth.1_Missense_Mutation_p.E393D|DAPK1_uc004apf.1_Missense_Mutation_p.E210D NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 656 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 AACAGCACGAGCACGTAGCAG 0.428 NaN Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 0 0 0 0.00361 0 58 209 SPTLC1 10558 broad.mit.edu 37 9 94843181 94843181 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:94843181G>A uc004arl.1 - 4 363 c.325C>T c.(325-327)CTT>TTT p.L109F SPTLC1_uc011ltv.1_Missense_Mutation_p.L109F|SPTLC1_uc004arm.1_Missense_Mutation_p.L109F|SPTLC1_uc004arn.1_Missense_Mutation_p.L109F NM_006415 NP_006406 O15269 SPTC1_HUMAN serine palmitoyltransferase subunit 1 isoform a 109 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) AACAATCCAAGAAAATTAAAT 0.373 NaN 0 0 0 0.008871 0 18 48 FOXE1 2304 broad.mit.edu 37 9 100616407 100616407 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:100616407G>A uc004axu.2 + 1 871 c.211G>A c.(211-213)GAG>AAG p.E71K NM_004473 NP_004464 O00358 FOXE1_HUMAN forkhead box E1 71 Fork-head. cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation transcription factor complex DNA bending activity|double-stranded DNA binding|promoter 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 Acute lymphoblastic leukemia(62;0.158) GCACGCGCCCGAGCGCCGCCT 0.572 NaN 0 0 0 0.00245 0 12 14 TMEM38B 55151 broad.mit.edu 37 9 108536171 108536171 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:108536171C>T uc004bcu.1 + 6 803 c.686C>T c.(685-687)TCT>TTT p.S229F TMEM38B_uc010mtn.1_3'UTR NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 229 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 ACACAGACTTCTACTATGACA 0.358 NaN 0 0 0 0.009535 0 23 73 IKBKAP 8518 broad.mit.edu 37 9 111659293 111659293 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:111659293G>T uc004bdm.3 - 24 3047 c.2527C>A c.(2527-2529)CAT>AAT p.H843N IKBKAP_uc004bdl.2_Missense_Mutation_p.H494N|IKBKAP_uc011lwc.1_Missense_Mutation_p.H729N|IKBKAP_uc010mtq.2_Missense_Mutation_p.H494N NM_003640 NP_003631 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene 843 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity ovary(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|kidney(1) 7 TTCTTTACATGAGATGTAAGT 0.433 NaN 1 0 3.8784e-16 0.012319 4.12237e-16 17 76 ZFP37 7539 broad.mit.edu 37 9 115805645 115805645 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:115805645G>A uc004bgm.1 - 4 1281 c.1253C>T c.(1252-1254)TCA>TTA p.S418L ZFP37_uc011lwz.1_Missense_Mutation_p.S433L|ZFP37_uc011lxa.1_Missense_Mutation_p.S419L NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 418 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGTAAGAGATGAGTTATACCT 0.388 NaN 0 0 0 0.00361 0 49 36 ZFP37 7539 broad.mit.edu 37 9 115806039 115806039 + Nonsense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:115806039G>A uc004bgm.1 - 4 887 c.859C>T c.(859-861)CAA>TAA p.Q287* ZFP37_uc011lwz.1_Nonsense_Mutation_p.Q302*|ZFP37_uc011lxa.1_Nonsense_Mutation_p.Q288* NM_003408 NP_003399 Q9Y6Q3 ZFP37_HUMAN zinc finger protein 37 homolog 287 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 ACACAAGCTTGAGGTTTTTCA 0.403 NaN 0 0 0 0.00361 0 61 51 TRIM32 22954 broad.mit.edu 37 9 119461344 119461344 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:119461344G>A uc004bjx.2 + 2 1481 c.1323G>A c.(1321-1323)CTG>CTA p.L441L ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Silent_p.L441L NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 441 NHL 2. fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 GCCAGGGGCTGATTGGTGTGA 0.547 NaN Bardet-Biedl_syndrome 0 0 0 0.00361 0 63 211 DAB2IP 153090 broad.mit.edu 37 9 124535708 124535708 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:124535708G>A uc004bln.2 + 12 2886 c.2817G>A c.(2815-2817)CTG>CTA p.L939L DAB2IP_uc004blo.2_Silent_p.L843L|DAB2IP_uc004blp.2_Silent_p.L372L NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 967 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 GTACCCGCCTGAGGCAGCAGT 0.657 NaN 0 0 0 0.012319 0 16 8 LMX1B 4010 broad.mit.edu 37 9 129455807 129455807 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:129455807G>C uc004bqj.2 + 5 727 c.677G>C c.(676-678)CGA>CCA p.R226P LMX1B_uc004bqi.2_Missense_Mutation_p.R226P|LMX1B_uc011maa.1_Missense_Mutation_p.R226P NM_002316 NP_002307 O60663 LMX1B_HUMAN LIM homeobox transcription factor 1, beta 226 Homeobox. R -> P (in NPS). dorsal/ventral pattern formation|in utero embryonic development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCCAGGTCCGAGAGACACTG 0.612 NaN Nail-Patella_Syndrome 0 0 0 0.00361 0 48 39 RALGPS1 9649 broad.mit.edu 37 9 129728131 129728131 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:129728131C>A uc004bqo.1 + 3 333 c.66C>A c.(64-66)AGC>AGA p.S22R RALGPS1_uc011mab.1_Missense_Mutation_p.S22R|RALGPS1_uc011mac.1_Missense_Mutation_p.S22R|RALGPS1_uc004bqq.3_Missense_Mutation_p.S22R NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 22 Poly-Ser. small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 AGGGCAGCAGCAGCTCGGACT 0.542 NaN 1 0 0.000375601 0.00278 0.000383754 19 77 RALGPS1 9649 broad.mit.edu 37 9 129958857 129958857 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:129958857G>A uc004bqo.1 + 13 1409 c.1142G>A c.(1141-1143)CGA>CAA p.R381Q RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 381 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 CGCAGCCCCCGAAGGGGCCTG 0.577 NaN 0 0 0 0.004878 0 31 75 GARNL3 84253 broad.mit.edu 37 9 130152935 130152935 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:130152935G>T uc011mae.1 + 27 3160 c.2759G>T c.(2758-2760)GGT>GTT p.G920V GARNL3_uc011mad.1_Missense_Mutation_p.G898V|GARNL3_uc010mxi.2_Missense_Mutation_p.G150V NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 920 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TCGGATGAAGGTGGACCCAAG 0.537 NaN 1 0 2.70572e-37 0.00361 2.94236e-37 79 71 LRSAM1 90678 broad.mit.edu 37 9 130265177 130265177 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:130265177G>A uc004brb.1 + 26 2516 c.2171G>A c.(2170-2172)TGA>TAA p.*724* LRSAM1_uc010mxk.1_Silent_p.*697*|LRSAM1_uc004brc.1_Silent_p.*724*|LRSAM1_uc004brd.1_Silent_p.*724*|LRSAM1_uc004bre.1_Silent_p.*304*|LRSAM1_uc004brg.1_Silent_p.*155* NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 724 negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 CACAGCAGCTGAGTGCTGCCC 0.697 NaN 0 0 0 0.00308 0 8 6 TTC16 158248 broad.mit.edu 37 9 130489656 130489656 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:130489656C>T uc004brq.1 + 12 1743 c.1676C>T c.(1675-1677)CCT>CTT p.P559L PTRH1_uc011mah.1_5'Flank|TTC16_uc011mai.1_Missense_Mutation_p.P546L|TTC16_uc004brr.1_Missense_Mutation_p.P409L|TTC16_uc010mxn.1_Missense_Mutation_p.P155L NM_144965 NP_659402 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 559 binding 0 AAGGCCACCCCTGAGATTCCG 0.493 NaN 0 0 0 0.007413 0 15 11 SARDH 1757 broad.mit.edu 37 9 136531911 136531911 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:136531911G>A uc004cep.3 - 20 2711 c.2577C>T c.(2575-2577)TTC>TTT p.F859F SARDH_uc004ceo.2_Silent_p.F859F|SARDH_uc011mdn.1_Silent_p.F859F|SARDH_uc011mdo.1_Silent_p.F691F|SARDH_uc004cen.2_Silent_p.F309F NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 859 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGTCGATGGCGAACCCAAAGT 0.597 NaN 0 0 0 0.004672 0 3 11 KCNT1 57582 broad.mit.edu 37 9 138606490 138606490 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:138606490G>A uc011mdq.1 + 2 252 c.178G>A c.(178-180)GAG>AAG p.E60K KCNT1_uc011mdr.1_5'UTR|KCNT1_uc010nbf.2_Intron NM_020822 NP_065873 Q5JUK3 KCNT1_HUMAN potassium channel, subfamily T, member 1 60 membrane binding|calcium-activated potassium channel activity large_intestine(2)|ovary(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCTGGACTCCGAGGTGCTGCC 0.716 NaN 0 0 0 0.004656 0 19 39 C9orf142 286257 broad.mit.edu 37 9 139887394 139887394 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:139887394G>C uc004cki.2 + 3 224 c.198G>C c.(196-198)CTG>CTC p.L66L NM_183241 NP_899064 Q9BUH6 CI142_HUMAN hypothetical protein LOC286257 66 0 all_cancers(76;0.11) Myeloproliferative disorder(178;0.0821) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GTTTTGGCCTGAGTGCGGCTG 0.662 NaN 0 0 0 0.004878 0 30 130 BCOR 54880 broad.mit.edu 37 X 39930340 39930340 + Missense_Mutation SNP C C T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:39930340C>T uc004den.3 - 6 3416 c.3124G>A c.(3124-3126)GAG>AAG p.E1042K BCOR_uc004dep.3_Missense_Mutation_p.E1042K|BCOR_uc004deo.3_Missense_Mutation_p.E1024K|BCOR_uc004dem.3_Missense_Mutation_p.E1042K NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 1042 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TTGCACATCTCGGAGTCTTTG 0.488 NaN 0 0 0 0.009535 0 30 2 CHST7 56548 broad.mit.edu 37 X 46434158 46434158 + Silent SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:46434158G>A uc004dgt.2 + 1 967 c.792G>A c.(790-792)TTG>TTA p.L264L NM_019886 NP_063939 Q9NS84 CHST7_HUMAN chondroitin 6-sulfotransferase 7 264 Lumenal (Potential). chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity breast(3) 3 TGCCCCTGTTGCGTGATCCAG 0.657 NaN 0 0 0 0.004672 0 3 12 ITIH5L 347365 broad.mit.edu 37 X 54783526 54783526 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:54783526G>T uc004dtj.2 - 8 3011 c.2981C>A c.(2980-2982)CCT>CAT p.P994H NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 994 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GATGGCCTCAGGGAGGATGCT 0.547 NaN 1 0 1.00905e-13 0.008871 1.06394e-13 18 22 ITGB1BP2 26548 broad.mit.edu 37 X 70521663 70521663 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:70521663C>G uc004dzr.1 + 1 36 c.7C>G c.(7-9)CTA>GTA p.L3V BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_5'UTR NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 3 muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) TTCCATGTCTCTACTCTGTCG 0.507 NaN 0 0 0 0.00361 0 46 1 SLC16A2 6567 broad.mit.edu 37 X 73745728 73745728 + Missense_Mutation SNP G G T TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:73745728G>T uc004ebt.2 + 4 1558 c.1392G>T c.(1390-1392)CAG>CAT p.Q464H SLC16A2_uc010nlr.1_Missense_Mutation_p.Q139H NM_006517 NP_006508 P36021 MOT8_HUMAN solute carrier family 16, member 2 390 Helical; (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|ovary(1) 3 Pyruvic acid(DB00119) TCTACTTGCAGGTGAGTGTGA 0.488 NaN 1 0 1.50039e-11 0.012319 1.56697e-11 20 23 CSTF2 1478 broad.mit.edu 37 X 100088252 100088252 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:100088252G>A uc004egh.2 + 11 1349 c.1291G>A c.(1291-1293)GAG>AAG p.E431K CSTF2_uc010nnd.2_Missense_Mutation_p.E451K|CSTF2_uc004egi.2_Missense_Mutation_p.E414K NM_001325 NP_001316 P33240 CSTF2_HUMAN cleavage stimulation factor subunit 2 431 5; approximate.|12 X 5 AA tandem repeats of M-E-A-R-[AG]. mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|protein binding|RNA binding skin(1) 1 CAGAGGATTAGAGGCCCGTGC 0.587 NaN 0 0 0 0.00499 0 14 3 ARMCX5 64860 broad.mit.edu 37 X 101857861 101857861 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:101857861G>C uc004ejg.2 + 6 1673 c.792G>C c.(790-792)TTG>TTC p.L264F ARMCX5_uc004ejh.2_Missense_Mutation_p.L264F NM_022838 NP_073749 Q6P1M9 ARMX5_HUMAN armadillo repeat containing, X-linked 5 264 binding ovary(1) 1 TTCGACCTTTGACCAAGATCC 0.483 NaN 0 0 0 0.007835 0 30 52 H2BFWT 158983 broad.mit.edu 37 X 103267744 103267744 + Silent SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:103267744G>C uc004elr.2 - 1 513 c.489C>G c.(487-489)CTC>CTG p.L163L NM_001002916 NP_001002916 Q7Z2G1 H2BWT_HUMAN H2B histone family, member W, testis-specific 163 nucleosome assembly nuclear membrane|nucleosome DNA binding ovary(1) 1 TGGTGTACCTGAGGACAGCCT 0.632 NaN 0 0 0 0.005524 0 34 7 GPR101 83550 broad.mit.edu 37 X 136112978 136112978 + Missense_Mutation SNP C C A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:136112978C>A uc011mwh.1 - 1 856 c.856G>T c.(856-858)GCC>TCC p.A286S NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 286 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) CCTTCCTTGGCCTTCAGGCTG 0.612 NaN 1 0 7.28744e-38 0.00361 7.93789e-38 89 77 PLXNB3 5365 broad.mit.edu 37 X 153044065 153044065 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chrX:153044065C>G uc004fii.2 + 35 5735 c.5561C>G c.(5560-5562)TCT>TGT p.S1854C PLXNB3_uc010nuk.2_Missense_Mutation_p.S1877C|PLXNB3_uc011mzd.1_Missense_Mutation_p.S1493C|SRPK3_uc004fik.2_5'UTR|SRPK3_uc010nul.2_5'Flank|SRPK3_uc004fin.2_5'Flank|SRPK3_uc004fil.2_5'Flank|SRPK3_uc004fim.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1854 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) AACTACACTTCTGCTCCCCAC 0.612 NaN 0 0 0 0.000602 0 4 8 BARHL2 343472 broad.mit.edu 37 1 91182377 91182377 + Frame_Shift_Del DEL G G - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:91182377delG uc001dns.2 - 1 418 c.376delC c.(376-378)CAGfs p.Q126fs NM_020063 NP_064447 Q9NY43 BARH2_HUMAN BarH-like homeobox 2 126 Gln/Pro-rich. nucleus sequence-specific DNA binding ovary(1) 1 all_lung(203;0.0263)|Lung SC(238;0.128) all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211) CCCAGCTGCTGGGGGggcggc 0.423 NaN NaN NaN NaN NaN NaN 2 4 --- --- SLAMF1 6504 broad.mit.edu 37 1 160589601 160589601 + Frame_Shift_Del DEL T T - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr1:160589601delT uc001fwl.3 - 5 1175 c.829delA c.(829-831)AGCfs p.S277fs SLAMF1_uc010pjk.1_Intron|SLAMF1_uc010pjl.1_Intron|SLAMF1_uc010pjm.1_Intron NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 277 Cytoplasmic (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) ATCGTAAGGCTTTTTTTTTCC 0.433 NaN NaN NaN NaN NaN NaN 7 488 --- --- TFAM 7019 broad.mit.edu 37 10 60148570 60148570 + Frame_Shift_Del DEL A A - rs78912196 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:60148570delA uc001jkf.2 + 4 564 c.432delA c.(430-432)ACAfs p.T144fs TFAM_uc001jkg.2_RNA|TFAM_uc001jkh.2_Frame_Shift_Del_p.T144fs NM_003201 NP_003192 Q00059 TFAM_HUMAN transcription factor A, mitochondrial precursor 144 DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter mitochondrial nucleoid mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity 0 AAGCTATGACAAAAAAAAAAG 0.269 NaN NaN NaN NaN NaN NaN 8 26 --- --- ZMIZ1 57178 broad.mit.edu 37 10 81052006 81052026 + In_Frame_Del DEL GCAGCAGCGGCAGTGGCAGCA GCAGCAGCGGCAGTGGCAGCA - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA uc001kaf.2 + 11 1422_1442 c.850_870delGCAGCAGCGGCAGTGGCAGCA c.(850-870)GCAGCAGCGGCAGTGGCAGCAdel p.AAAAVAA284del ZMIZ1_uc001kag.2_In_Frame_Del_p.AAAAVAA160del|ZMIZ1_uc001kah.1_In_Frame_Del_p.AAAAVAA160del NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 284_290 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) ggcagccgctgcagcagcggcagtggcagcagcagcagcCA 0.511 NaN NaN NaN NaN NaN NaN 48 82 --- --- PAK6 56924 broad.mit.edu 37 15 40566413 40566424 + In_Frame_Del DEL CCCCAGTGCAAG CCCCAGTGCAAG - rs74468066 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr15:40566413_40566424delCCCCAGTGCAAG uc010bbl.2 + 10 2254_2265 c.1814_1825delCCCCAGTGCAAG c.(1813-1827)TCCCCAGTGCAAGCC>TCC p.PVQA606del PAK6_uc010bbm.2_In_Frame_Del_p.PVQA606del|PAK6_uc001zky.3_Intron|PAK6_uc010bbn.2_In_Frame_Del_p.PVQA606del|PAK6_uc001zlb.2_In_Frame_Del_p.PVQA606del NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 606_609 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) TTCAGTGACTCCCCAGTGCAAGCCATGAAGAG 0.571 NaN OREG0023057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 40 87 --- --- ANKRD11 29123 broad.mit.edu 37 16 89349651 89349651 + Frame_Shift_Del DEL G G - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr16:89349651delG uc002fmx.1 - 9 3760 c.3299delC c.(3298-3300)TCTfs p.S1100fs ANKRD11_uc002fmy.1_Frame_Shift_Del_p.S1100fs|ANKRD11_uc002fnc.1_Frame_Shift_Del_p.S1100fs|ANKRD11_uc002fnb.1_Frame_Shift_Del_p.S1057fs NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1100 Lys-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TTTTTTTTCAGAGAAGTCTTC 0.463 NaN NaN NaN NaN NaN NaN 22 39 --- --- C17orf85 55421 broad.mit.edu 37 17 3721809 3721811 + In_Frame_Del DEL TCC TCC - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:3721809_3721811delTCC uc010ckl.1 - 10 1079_1081 c.1056_1058delGGA c.(1054-1059)GAGGAA>GAA p.352_353EE>E C17orf85_uc002fwr.2_In_Frame_Del_p.62_63EE>E|C17orf85_uc002fwq.2_In_Frame_Del_p.72_73EE>E NM_001114118 NP_001107590 Q53F19 CQ085_HUMAN ELG protein isoform a 352_353 Glu-rich. nucleotide binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (3;0.0725) ctcttcctcttcctcctcctcct 0.379 NaN NaN NaN NaN NaN NaN 9 169 --- --- WRAP53 55135 broad.mit.edu 37 17 7606722 7606722 + Frame_Shift_Del DEL C C - rs7640 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr17:7606722delC uc010vuh.1 + 11 1720 c.1565delC c.(1564-1566)GCGfs p.A522fs WRAP53_uc010vui.1_Frame_Shift_Del_p.A522fs|WRAP53_uc002gip.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002gir.2_Frame_Shift_Del_p.A522fs|WRAP53_uc002giq.2_RNA|WRAP53_uc010cnl.2_Frame_Shift_Del_p.A489fs|EFNB3_uc002gis.2_5'Flank NM_001143990 NP_001137462 Q9BUR4 WAP53_HUMAN WD repeat domain 79 isoform 2 522 positive regulation of telomerase activity|telomere formation via telomerase Cajal body|cytoplasm|telomerase holoenzyme complex protein binding|RNA binding 0 TGTGGGGGGGCGCCAGACTCC 0.582 NaN NaN NaN NaN NaN NaN 7 179 --- --- ZFP36 7538 broad.mit.edu 37 19 39898948 39898950 + In_Frame_Del DEL CAC CAC - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr19:39898948_39898950delCAC uc002olh.1 + 2 648_650 c.590_592delCAC c.(589-594)TCACCA>TCA p.P201del ZFP36_uc010egn.1_In_Frame_Del_p.H73del NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog 201 P-P-P-P-G. positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CGCCGGACCTCACCACCACCACC 0.685 NaN NaN NaN NaN NaN NaN 8 725 --- --- PTPN18 26469 broad.mit.edu 37 2 131129929 131129934 + In_Frame_Del DEL GACGGG GACGGG - rs112040677 TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr2:131129929_131129934delGACGGG uc002trc.2 + 13 1214_1219 c.1113_1118delGACGGG c.(1111-1119)CAGACGGGG>CAG p.TG378del PTPN18_uc002trd.2_In_Frame_Del_p.TG357del|PTPN18_uc002trb.2_In_Frame_Del_p.TG271del|PTPN18_uc002tre.2_In_Frame_Del_p.TG29del NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 378_379 Missing (in Ref. 1; CAA56105). cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) gtgggacgcagacggggacggggacg 0.568 NaN NaN NaN NaN NaN NaN 2 4 --- --- COL6A2 1292 broad.mit.edu 37 21 47538527 47538527 + Splice_Site DEL G G - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr21:47538527delG uc002zia.1 + 13 1199 c.1117_splice c.e13-1 p.G373_splice COL6A2_uc002zhy.1_Splice_Site_p.G373_splice|COL6A2_uc002zhz.1_Splice_Site_p.G373_splice|COL6A2_uc002zib.1_Intron NM_001849 NP_001840 P12110 CO6A2_HUMAN alpha 2 type VI collagen isoform 2C2 precursor axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging central_nervous_system(7)|ovary(1) 8 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) AACCCTTCCAGGGGGACCCTG 0.687 NaN NaN NaN NaN NaN NaN 21 25 --- --- BIK 638 broad.mit.edu 37 22 43525245 43525247 + In_Frame_Del DEL GCT GCT - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr22:43525245_43525247delGCT uc003bdk.2 + 5 477_479 c.417_419delGCT c.(415-420)GCGCTG>GCG p.L144del NM_001197 NP_001188 Q13323 BIK_HUMAN BCL2-interacting killer 144 Leucine-zipper (Potential).|Helical; (Potential). apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria endomembrane system|integral to membrane 0 Ovarian(80;0.0694) tgctgctggcgctgctgctgctg 0.562 NaN NaN NaN NaN NaN NaN 9 163 --- --- ANO10 55129 broad.mit.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:43647213delT uc003cmv.2 - 2 303 c.132delA c.(130-132)AAAfs p.K44fs ANO10_uc011azs.1_Frame_Shift_Del_p.K44fs|ANO10_uc003cmw.2_Frame_Shift_Del_p.K44fs|ANO10_uc010hil.2_Frame_Shift_Del_p.K44fs|ANO10_uc011azt.1_Frame_Shift_Del_p.K44fs NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 44 Cytoplasmic (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 CACCTCCATCTTTTTTTTTAG 0.408 NaN NaN NaN NaN NaN NaN 8 77 --- --- H1FOO 132243 broad.mit.edu 37 3 129268112 129268113 + Frame_Shift_Ins INS - - G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr3:129268112_129268113insG uc003emu.2 + 3 652_653 c.647_648insG c.(646-648)AAGfs p.K216fs H1FOO_uc003emv.2_Frame_Shift_Ins_p.K77fs NM_153833 NP_722575 Q8IZA3 H1FOO_HUMAN H1 histone family, member O, oocyte-specific 216 meiosis|nucleosome assembly cytoplasm|nucleosome DNA binding skin(1) 1 GAGGCTAGGAAGGTGCCCCCCA 0.649 NaN NaN NaN NaN NaN NaN 3 6 --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:1388441_1388442insCG uc003gdf.2 + 1 3102_3103 c.142_143insCG c.(142-144)ATGfs p.M48fs NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 NaN NaN NaN NaN NaN NaN 9 1049 --- --- ANP32C 23520 broad.mit.edu 37 4 165118286 165118288 + In_Frame_Del DEL TCC TCC - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr4:165118286_165118288delTCC uc011cjk.1 - 1 576_578 c.576_578delGGA c.(574-579)GAGGAA>GAA p.192_193EE>E MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 192_193 Asp/Glu-rich (highly acidic). 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) ctcttcaccttcctcctcctcct 0.192 NaN NaN NaN NaN NaN NaN 5 11 --- --- PCDHB4 56131 broad.mit.edu 37 5 140502486 140502487 + Frame_Shift_Ins INS - - A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr5:140502486_140502487insA uc003lip.1 + 1 906_907 c.906_907insA c.(904-909)TTGAAAfs p.L302fs NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 302_303 Cadherin 3.|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) AAATACTGTTGAAAAAAAAATT 0.366 NaN NaN NaN NaN NaN NaN 8 138 --- --- WBSCR28 135886 broad.mit.edu 37 7 73280067 73280068 + Frame_Shift_Ins INS - - C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr7:73280067_73280068insC uc003tzk.2 + 3 698_699 c.662_663insC c.(661-663)CACfs p.H221fs RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_Frame_Shift_Ins_p.H120fs NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 221 integral to membrane breast(1) 1 Lung NSC(55;0.159) GCCTTTGAGCACACGACCCAGC 0.629 NaN NaN NaN NaN NaN NaN 7 511 --- --- PKHD1L1 93035 broad.mit.edu 37 8 110455173 110455174 + Splice_Site INS - - G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:110455173_110455174insG uc003yne.2 + 36 4498 c.4394_splice c.e36-1 p.G1465_splice NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) ATTTTATGGCAGGTTCATTTTC 0.322 NaN HNSCC(38;0.096) NaN NaN NaN NaN NaN 8 116 --- --- SLC45A4 57210 broad.mit.edu 37 8 142228490 142228492 + In_Frame_Del DEL GCC GCC - TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr8:142228490_142228492delGCC uc003ywd.1 - 4 1402_1404 c.1094_1096delGGC c.(1093-1098)CGGCAC>CAC p.R365del SLC45A4_uc003ywc.1_In_Frame_Del_p.R365del|SLC45A4_uc010meq.1_In_Frame_Del_p.R363del NM_001080431 NP_001073900 Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 416 transport integral to membrane ovary(2) 2 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CGGAACGCGTGCCGCCGCCGCCG 0.675 NaN NaN NaN NaN NaN NaN 7 265 --- --- FOXD4 2298 broad.mit.edu 37 9 117406 117407 + Frame_Shift_Ins INS - - G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 074fc904-0a0e-4114-b569-89d51e7a89db bc976042-8abc-4c49-b0f4-abd1c84ef41b g.chr9:117406_117407insG uc003zfz.2 - 1 1011_1012 c.713_714insC c.(712-714)CCGfs p.P238fs NM_207305 NP_997188 Q12950 FOXD4_HUMAN forkhead box D4 238 Pro-rich. axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system 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 all_lung(41;0.218) all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06) Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157) all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154) CTGGCTGCGGCGGGGCAGGGGC 0.743 NaN NaN NaN NaN NaN NaN 7 213 --- ---