Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut NOC2L 26155 broad.mit.edu 37 1 892498 892498 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:892498G>A uc001abz.3 - 3 394 c.335C>T c.(334-336)TCC>TTC p.S112F NOC2L_uc001aby.3_5'UTR|NOC2L_uc009vjq.2_Missense_Mutation_p.S112F NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 112 nucleolus protein binding ovary(1)|skin(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) ATCTGGCAGGGAGTGGAACGG 0.582 NA 66 389 0 0 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3394440 3394440 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:3394440C>G uc001akg.3 + 11 1723 c.1475C>G c.(1474-1476)TCC>TGC p.S492C ARHGEF16_uc001aki.2_Missense_Mutation_p.S204C|ARHGEF16_uc001akj.2_Missense_Mutation_p.S204C|ARHGEF16_uc010nzh.1_Missense_Mutation_p.S196C NM_014448 NP_055263 Q5VV41 ARHGG_HUMAN Rho guanine exchange factor 16 492 activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity ovary(1) 1 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) TCCCCCCAGTCCCTCCCACTG 0.637 NA 15 79 0 0 0 0 AJAP1 55966 broad.mit.edu 37 1 4772109 4772109 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:4772109C>T uc001alm.1 + 2 560 c.179C>T c.(178-180)CCG>CTG p.P60L AJAP1_uc001aln.2_Missense_Mutation_p.P60L NM_001042478 NP_001035943 Q9UKB5 AJAP1_HUMAN adherens junction associated protein 1 60 Extracellular (Potential). cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane lung(1) 1 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) ccgccccggccgccccggcTG 0.592 NA 25 75 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16458218 16458218 + Missense_Mutation SNP C C T rs2291806 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:16458218C>T uc001aya.1 - 14 2610 c.2473G>A c.(2473-2475)GAG>AAG p.E825K NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 825 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GCACCCACCTCGTGGTTGGAC 0.587 NA 11 87 0 0 0 0 HSPG2 3339 broad.mit.edu 37 1 22158995 22158995 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:22158995C>T uc001bfj.2 - 81 11240 c.11200G>A c.(11200-11202)GAG>AAG p.E3734K HSPG2_uc001bfi.2_5'Flank|HSPG2_uc009vqd.2_Missense_Mutation_p.E3735K NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 3734 Laminin G-like 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CACCGGAACTCGGGCCTTCCC 0.632 NA 16 103 0 0 0 0 MYOM3 127294 broad.mit.edu 37 1 24432564 24432564 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:24432564C>G uc001bin.3 - 5 569 c.406G>C c.(406-408)GAG>CAG p.E136Q MYOM3_uc001bio.2_Missense_Mutation_p.E136Q|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 136 Potential. 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) ACCTTCTCCTCTGTCTGGAGG 0.617 NA 7 36 0 0 0 0 UBXN11 91544 broad.mit.edu 37 1 26620764 26620764 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:26620764G>A uc001blw.2 - 9 764 c.491C>T c.(490-492)TCA>TTA p.S164L UBXN11_uc001blz.1_Missense_Mutation_p.S131L|UBXN11_uc001blv.2_Missense_Mutation_p.S126L|UBXN11_uc001bly.2_Intron|UBXN11_uc001blx.2_Intron|UBXN11_uc001bma.2_Missense_Mutation_p.S131L|UBXN11_uc001bmb.1_Missense_Mutation_p.S164L|UBXN11_uc010ofb.1_Missense_Mutation_p.S89L|UBXN11_uc010ofc.1_Missense_Mutation_p.S6L NM_183008 NP_892120 Q5T124 UBX11_HUMAN socius isoform 2 164 cytoplasm|cytoskeleton ovary(1) 1 CTTGCTCTCTGAGTCCTCCTG 0.617 NA 55 96 0 0 0 0 AIM1L 55057 broad.mit.edu 37 1 26648788 26648788 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:26648788C>G uc001bmd.3 - 18 2059 c.1629G>C c.(1627-1629)GTG>GTC p.V543V NM_001039775 NP_001034864 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 543 Ricin B-type lectin. sugar binding pancreas(1) 1 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GGGGTCCAATCACCTGTAGGC 0.632 NA 7 98 0 0 0 0 ARID1A 8289 broad.mit.edu 37 1 27106087 27106087 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:27106087G>C uc001bmv.1 + 20 6071 c.5698G>C c.(5698-5700)GAT>CAT p.D1900H ARID1A_uc001bmu.1_Missense_Mutation_p.D1683H|ARID1A_uc001bmx.1_Missense_Mutation_p.D746H|ARID1A_uc009vsm.1_Missense_Mutation_p.D228H|ARID1A_uc009vsn.1_Missense_Mutation_p.D142H NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1900 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCCCCACCTGATGGACCTCC 0.587 NA Mis|N|F|S|D clear cell ovarian carcinoma|RCC 6 88 0 0 0 0 SFN 2810 broad.mit.edu 37 1 27189782 27189782 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:27189782A>G uc001bnc.1 + 1 150 c.79A>G c.(79-81)AAA>GAA p.K27E NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 27 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) AGCCTTCATGAAAGGCGCCGT 0.617 NA 31 68 0 0 0 0 SFN 2810 broad.mit.edu 37 1 27190331 27190331 + Nonsense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:27190331G>T uc001bnc.1 + 1 699 c.628G>T c.(628-630)GAG>TAG p.E210* uc010ofi.1_RNA NM_006142 NP_006133 P31947 1433S_HUMAN stratifin 210 DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria cytoplasm|extracellular space|nucleus protein domain specific binding|protein kinase C inhibitor activity 0 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215) CACCCTCAGCGAGGACTCCTA 0.617 NA 50 114 3.86e-30 4.31e-30 1 0 COL16A1 1307 broad.mit.edu 37 1 32160810 32160810 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:32160810C>A uc001btk.1 - 11 1323 c.958G>T c.(958-960)GTC>TTC p.V320F COL16A1_uc001btj.1_Missense_Mutation_p.V149F|COL16A1_uc001btl.3_Missense_Mutation_p.V320F NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 320 Nonhelical region 10 (NC10). cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GCACCATGGACACAGGGCGGA 0.627 NA 12 46 3.07e-06 3.24e-06 1 0 EIF2C1 26523 broad.mit.edu 37 1 36384759 36384759 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:36384759G>T uc001bzl.2 + 18 2582 c.2369G>T c.(2368-2370)CGA>CTA p.R790L EIF2C1_uc001bzk.2_Missense_Mutation_p.R715L|EIF2C1_uc009vuy.2_RNA NM_012199 NP_036331 Q9UL18 AGO1_HUMAN eukaryotic translation initiation factor 2C, 1 790 Piwi. negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome protein binding|RNA binding ovary(2)|skin(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACTTACGTACGATGCACACGC 0.552 NA 17 35 4.76e-15 5.2e-15 1 0 MFSD2A 84879 broad.mit.edu 37 1 40422867 40422867 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:40422867C>T uc001cev.2 + 2 383 c.202C>T c.(202-204)CAG>TAG p.Q68* MFSD2A_uc010ojb.1_Intron|MFSD2A_uc001ceu.2_Nonsense_Mutation_p.Q68*|MFSD2A_uc010ojc.1_Intron|MFSD2A_uc009vvy.2_RNA NM_001136493 NP_001129965 Q8NA29 MFS2A_HUMAN major facilitator superfamily domain containing 68 transmembrane transport endoplasmic reticulum membrane|integral to membrane ovary(1)|pancreas(1) 2 TTTCTTCCTTCAGATCTACCT 0.527 NA 150 284 0 0 0 0 CCDC30 728621 broad.mit.edu 37 1 43021987 43021987 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:43021987G>T uc009vwk.1 + 5 696 c.586G>T c.(586-588)GTG>TTG p.V196L CCDC30_uc001chm.2_5'UTR|CCDC30_uc001chn.2_Intron|CCDC30_uc010oju.1_RNA|CCDC30_uc001chp.2_Intron NM_001080850 NP_001074319 Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 196 Potential. 0 TGAGGAAATTGTGAGGCTTAG 0.463 NA 15 37 1.5e-05 1.58e-05 1 0 ERI3 79033 broad.mit.edu 37 1 44820585 44820585 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:44820585C>G uc001clt.2 - 1 355 c.114G>C c.(112-114)CCG>CCC p.P38P ERI3_uc010okv.1_5'Flank|ERI3_uc009vxg.2_Silent_p.P38P|ERI3_uc010okw.1_5'UTR|ERI3_uc001clu.2_5'UTR NM_024066 NP_076971 O43414 ERI3_HUMAN prion protein interacting protein 38 intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 GCCCCCAACTCGGGCCCATCC 0.697 NA 4 42 0 0 0 0 PTCH2 8643 broad.mit.edu 37 1 45296710 45296710 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:45296710C>T uc010olf.1 - 6 635 c.623G>A c.(622-624)CGC>CAC p.R208H PTCH2_uc010olg.1_Intron NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 208 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) GATATCCGGGCGGCCGCTGAG 0.612 NA Basal_Cell_Nevus_syndrome 19 28 0 0 0 0 TMEM48 55706 broad.mit.edu 37 1 54233687 54233687 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:54233687C>T uc001cvs.2 - 18 2222 c.1981G>A c.(1981-1983)GAA>AAA p.E661K TMEM48_uc010onu.1_Missense_Mutation_p.E621K|TMEM48_uc001cvt.2_Missense_Mutation_p.E538K|TMEM48_uc009vzk.2_RNA|TMEM48_uc010onv.1_Missense_Mutation_p.E326K NM_018087 NP_060557 Q9BTX1 NDC1_HUMAN transmembrane protein 48 661 Cytoplasmic (Potential). mRNA transport|nuclear pore complex assembly|nuclear pore distribution|protein transport|transmembrane transport nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore ovary(1)|pancreas(1) 2 TTCTGATGTTCTGCAGATGCT 0.338 NA 9 73 0 0 0 0 YIPF1 54432 broad.mit.edu 37 1 54332512 54332512 + Silent SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:54332512T>C uc001cvu.2 - 8 904 c.567A>G c.(565-567)AAA>AAG p.K189K YIPF1_uc001cvv.2_RNA|YIPF1_uc001cvw.2_RNA|YIPF1_uc001cvx.2_RNA|YIPF1_uc001cvy.2_RNA NM_018982 NP_061855 Q9Y548 YIPF1_HUMAN Yip1 domain family, member 1 189 Cytoplasmic (Potential). integral to membrane|transport vesicle large_intestine(1)|ovary(1) 2 TGTTCATAACTTTGCTGTTTC 0.458 NA 8 82 0 0 0 0 SERBP1 26135 broad.mit.edu 37 1 67889986 67889986 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:67889986G>A uc001ddv.2 - 5 855 c.715C>T c.(715-717)CAG>TAG p.Q239* SERBP1_uc001ddx.2_Nonsense_Mutation_p.Q233*|SERBP1_uc001ddy.2_Intron|SERBP1_uc001ddw.2_Intron NM_001018067 NP_001018077 Q8NC51 PAIRB_HUMAN SERPINE1 mRNA binding protein 1 isoform 1 239 regulation of mRNA stability nucleus|perinuclear region of cytoplasm mRNA 3'-UTR binding|protein binding skin(1) 1 ATTTGTTTCTGAATGTATTTG 0.363 NA 10 117 0 0 0 0 RBMXL1 494115 broad.mit.edu 37 1 89448482 89448482 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:89448482C>G uc009wcx.2 - 3 1744 c.1028G>C c.(1027-1029)AGA>ACA p.R343T CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.R343T NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 343 Ser-rich. nucleotide binding|RNA binding 0 TCTTTCTTGTCTGCCAACCCT 0.512 NA 75 245 0 0 0 0 WDR77 79084 broad.mit.edu 37 1 111989744 111989744 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:111989744G>A uc001ebb.2 - 4 505 c.466C>T c.(466-468)CAG>TAG p.Q156* WDR77_uc010owd.1_RNA|WDR77_uc010owe.1_Intron|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.2_5'Flank|ATP5F1_uc001ebd.3_5'Flank NM_024102 NP_077007 Q9BQA1 MEP50_HUMAN WD repeat domain 77 156 WD 2. ncRNA metabolic process|spliceosomal snRNP assembly cytosol|nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding 0 all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135) ACCACCTGCTGAGCAAGGTCC 0.388 NA 31 116 0 0 0 0 CAPZA1 829 broad.mit.edu 37 1 113212164 113212164 + Splice_Site SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:113212164G>T uc001ecj.1 + 9 1050 c.658_splice c.e9-1 p.N220_splice NM_006135 NP_006126 P52907 CAZA1_HUMAN F-actin capping protein alpha-1 subunit actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly cytosol|extracellular region|F-actin capping protein complex|WASH complex actin binding 0 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCTTCATTAGAATGAAGCCC 0.299 NA 15 68 1.52e-12 1.65e-12 1 0 FLG 2312 broad.mit.edu 37 1 152278805 152278805 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:152278805G>T uc001ezu.1 - 3 8593 c.8557C>A c.(8557-8559)CAC>AAC p.H2853N NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2853 Ser-rich.|Filaggrin 17. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCCTGAGTGCCTGGAGCCG 0.572 NA Ichthyosis 160 798 3.39e-80 3.81e-80 1 0 NUP210L 91181 broad.mit.edu 37 1 153984740 153984740 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:153984740C>T uc001fdw.2 - 34 4832 c.4760G>A c.(4759-4761)AGA>AAA p.R1587K NUP210L_uc009woq.2_Missense_Mutation_p.R496K|NUP210L_uc010peh.1_Missense_Mutation_p.R1587K NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1587 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) GACACCATTTCTGCCAGTGGT 0.383 NA 14 172 0 0 0 0 EFNA4 1945 broad.mit.edu 37 1 155039242 155039242 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:155039242C>G uc001fhd.2 + 2 237 c.150C>G c.(148-150)CTC>CTG p.L50L EFNA3_uc010pew.1_Intron|EFNA4_uc001fhc.2_Silent_p.L50L|EFNA4_uc001fhe.2_Silent_p.L50L NM_005227 NP_005218 P52798 EFNA4_HUMAN ephrin A4 isoform a 50 cell-cell signaling anchored to membrane|extracellular region|integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity 0 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) AGCTGGGCCTCAACGATTACC 0.627 NA 25 48 0 0 0 0 FDPS 2224 broad.mit.edu 37 1 155279994 155279994 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:155279994G>A uc001fkc.2 + 3 556 c.337G>A c.(337-339)GAG>AAG p.E113K RAG1AP1_uc010pey.1_Intron|FDPS_uc001fkd.2_Missense_Mutation_p.E47K|FDPS_uc001fke.2_Missense_Mutation_p.E113K|FDPS_uc001fkf.2_Missense_Mutation_p.E47K NM_002004 NP_001995 P14324 FPPS_HUMAN farnesyl diphosphate synthase isoform a 113 cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process cytosol|nucleus dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399) CCGGCTCAAGGAGGTGAGGGA 0.517 NA 9 67 0 0 0 0 SYT11 23208 broad.mit.edu 37 1 155838359 155838359 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:155838359G>A uc001fmg.2 + 2 901 c.638G>A c.(637-639)AGA>AAA p.R213K SYT11_uc010pgq.1_Intron NM_152280 NP_689493 Q9BT88 SYT11_HUMAN synaptotagmin XI 213 Cytoplasmic (Potential).|C2 1. cell junction|synaptic vesicle membrane protein binding|transporter activity ovary(1)|skin(1) 2 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GTGAAGACCAGAGTGCTGCGG 0.572 NA 5 144 0 0 0 0 SELL 6402 broad.mit.edu 37 1 169672451 169672451 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:169672451C>T uc001ggk.2 - 6 1095 c.897G>A c.(895-897)AAG>AAA p.K299K C1orf112_uc001ggj.2_Intron|SELL_uc010pls.1_Silent_p.K252K|SELL_uc001ggl.1_Silent_p.K312K NM_000655 NP_000646 P14151 LYAM1_HUMAN selectin L precursor 299 Extracellular (Potential).|Sushi 2. blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding 0 all_hematologic(923;0.208) AAATGGTTTTCTTCTTCCCAA 0.423 NA 3 51 0 0 0 0 SLC9A11 284525 broad.mit.edu 37 1 173552647 173552647 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:173552647C>G uc001giz.2 - 6 1061 c.638G>C c.(637-639)AGA>ACA p.R213T SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 213 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 GCTCCTACCTCTAAAAATAGA 0.294 NA 8 104 0 0 0 0 SMG7 9887 broad.mit.edu 37 1 183511286 183511286 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:183511286C>T uc001gqg.2 + 14 1613 c.1491C>T c.(1489-1491)CCC>CCT p.P497P SMG7_uc010pob.1_Silent_p.P526P|SMG7_uc001gqf.2_Silent_p.P497P|SMG7_uc001gqh.2_Silent_p.P497P|SMG7_uc001gqi.2_Silent_p.P455P|SMG7_uc010poc.1_Silent_p.P455P NM_173156 NP_775179 Q92540 SMG7_HUMAN SMG-7 homolog isoform 1 497 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TGGAAGACCCCAGTGAAGCCA 0.418 NA 107 200 0 0 0 0 FAM58B 339521 broad.mit.edu 37 1 200183441 200183441 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:200183441G>C uc009wzi.1 + 1 786 c.750G>C c.(748-750)GAG>GAC p.E250D NM_001105517 NP_001098987 P0C7Q3 FA58B_HUMAN family with sequence similarity 58 member B 250 regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent protein kinase binding 0 Prostate(682;0.19) TAGACACAGAGATCCCCTAAG 0.532 NA 17 133 0 0 0 0 USH2A 7399 broad.mit.edu 37 1 215848781 215848781 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:215848781G>A uc001hku.1 - 63 12859 c.12472C>T c.(12472-12474)CAG>TAG p.Q4158* NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4158 Extracellular (Potential).|Fibronectin type-III 27. 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) GGAGCCAGCTGAGAGTCTGGA 0.532 NA HNSCC(13;0.011) 6 70 0 0 0 0 MIA3 375056 broad.mit.edu 37 1 222801826 222801826 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:222801826G>C uc001hnl.2 + 4 1273 c.1264G>C c.(1264-1266)GAT>CAT p.D422H MIA3_uc009xea.1_Missense_Mutation_p.D258H NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 422 Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) ATTAGTCCCAGATAGCAAACA 0.383 NA 16 144 0 0 0 0 GALNT2 2590 broad.mit.edu 37 1 230338990 230338990 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:230338990G>A uc010pwa.1 + 3 400 c.328G>A c.(328-330)GAT>AAT p.D110N GALNT2_uc010pvy.1_Missense_Mutation_p.D72N|GALNT2_uc010pvz.1_RNA NM_004481 NP_004472 Q10471 GALT2_HUMAN polypeptide N-acetylgalactosaminyltransferase 2 110 Lumenal (Potential). 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) GGTGGAGAGTGATAAGCTTCG 0.547 NA 32 152 0 0 0 0 TUBAL3 79861 broad.mit.edu 37 10 5435546 5435546 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:5435546G>C uc001ihy.2 - 4 1315 c.1275C>G c.(1273-1275)TTC>TTG p.F425L TUBAL3_uc001ihz.2_Missense_Mutation_p.F385L NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 425 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 TGGCCTCCAAGAACTCTGCTT 0.532 NA 12 92 0 0 0 0 TUBAL3 79861 broad.mit.edu 37 10 5437411 5437411 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:5437411G>A uc001ihy.2 - 3 315 c.275C>T c.(274-276)TCA>TTA p.S92L TUBAL3_uc001ihz.2_Missense_Mutation_p.S52L NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 92 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 GTGGAAGAGTGAACGGTGCTG 0.592 NA 32 225 0 0 0 0 STAM 8027 broad.mit.edu 37 10 17730107 17730107 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:17730107C>G uc001ipj.1 + 5 595 c.379C>G c.(379-381)CTA>GTA p.L127V STAM_uc010qcf.1_Missense_Mutation_p.L16V NM_003473 NP_003464 Q92783 STAM1_HUMAN signal transducing adaptor molecule 1 127 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway cytosol|early endosome membrane SH3/SH2 adaptor activity large_intestine(1)|ovary(1) 2 ACAGCTTAGTCTAATATCAGC 0.363 NA 11 256 0 0 0 0 PTCHD3 374308 broad.mit.edu 37 10 27700799 27700799 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:27700799C>T uc001itu.2 - 2 1267 c.1149G>A c.(1147-1149)GTG>GTA p.V383V NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 383 SSD.|Helical; (Potential). spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 ACACAGGGATCACAGTCACAG 0.358 NA 10 58 0 0 0 0 KIAA1279 26128 broad.mit.edu 37 10 70748834 70748834 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:70748834G>C uc001joy.2 + 1 342 c.246G>C c.(244-246)GAG>GAC p.E82D NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 82 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 AGGTGGTGGAGCCCGAGGGGC 0.731 NA 3 46 0 0 0 0 KIAA1279 26128 broad.mit.edu 37 10 70775627 70775627 + Nonsense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:70775627G>T uc001joy.2 + 7 1417 c.1321G>T c.(1321-1323)GAG>TAG p.E441* NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 441 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 AACTGACATGGAGAGACGGTG 0.433 NA 64 127 6.56e-45 7.35e-45 1 0 SEC24C 9632 broad.mit.edu 37 10 75529650 75529650 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:75529650G>T uc001juw.2 + 21 2918 c.2739G>T c.(2737-2739)AAG>AAT p.K913N SEC24C_uc001jux.2_Missense_Mutation_p.K913N|SEC24C_uc010qko.1_Missense_Mutation_p.K794N|SEC24C_uc010qkp.1_Missense_Mutation_p.K161N|SEC24C_uc010qkq.1_Missense_Mutation_p.K161N|FUT11_uc001juy.1_5'Flank|FUT11_uc001juz.1_5'Flank|FUT11_uc001jva.2_5'Flank NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 913 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) GTGTGTTGAAGAGTGATGTCC 0.463 NA 46 266 1.57e-16 1.72e-16 1 0 POLR3A 11128 broad.mit.edu 37 10 79753020 79753020 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:79753020C>G uc001jzn.2 - 20 2816 c.2722G>C c.(2722-2724)GAT>CAT p.D908H NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 908 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) GCTGCAGGATCTAAGCCATCT 0.413 NA 19 228 0 0 0 0 LRIT2 340745 broad.mit.edu 37 10 85982250 85982250 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:85982250G>C uc001kcy.2 - 3 1087 c.1079C>G c.(1078-1080)TCG>TGG p.S360W LRIT2_uc010qmc.1_Missense_Mutation_p.S370W NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 360 integral to membrane ovary(2) 2 ATTGCCCTCCGAGGGGATGGA 0.552 NA 3 61 0 0 0 0 WAPAL 23063 broad.mit.edu 37 10 88260338 88260338 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:88260338G>A uc001kdo.2 - 3 1104 c.662C>T c.(661-663)TCA>TTA p.S221L WAPAL_uc001kdn.2_Missense_Mutation_p.S264L|WAPAL_uc009xsw.2_Missense_Mutation_p.S221L NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 221 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 TTCTGATGGTGATTCTGGCCT 0.373 NA 39 335 0 0 0 0 RPP30 10556 broad.mit.edu 37 10 92655643 92655643 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:92655643G>C uc009xtx.2 + 9 621 c.586G>C c.(586-588)GAA>CAA p.E196Q RPP30_uc001khd.2_Missense_Mutation_p.E196Q NM_006413 NP_006404 P78346 RPP30_HUMAN ribonuclease P/MRP 30kDa subunit isoform b 196 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity 0 TCAGCCTTTAGAAATAAGAGG 0.274 NA 15 127 0 0 0 0 LOC729020 729020 broad.mit.edu 37 10 105006203 105006203 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr10:105006203G>A uc009xxi.2 + 1 560 c.450G>A c.(448-450)CAG>CAA p.Q150Q uc001kwr.2_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN rcRPE protein 150 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity 0 TTGGAGAGCAGAAATTCATGG 0.473 NA 15 123 0 0 0 0 PHRF1 57661 broad.mit.edu 37 11 607897 607897 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:607897C>T uc001lqe.2 + 14 2572 c.2441C>T c.(2440-2442)TCA>TTA p.S814L PHRF1_uc010qwc.1_Missense_Mutation_p.S813L|PHRF1_uc010qwd.1_Missense_Mutation_p.S812L|PHRF1_uc010qwe.1_Missense_Mutation_p.S810L|PHRF1_uc009ybz.1_Missense_Mutation_p.S604L|PHRF1_uc009yca.1_RNA NM_020901 NP_065952 Q9P1Y6 PHRF1_HUMAN PHD and ring finger domains 1 814 RNA polymerase binding|zinc ion binding 0 GAGAACCCCTCACCCCTCTTC 0.617 NA 8 145 0 0 0 0 DEAF1 10522 broad.mit.edu 37 11 687928 687928 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:687928T>A uc001lqq.1 - 4 1340 c.647A>T c.(646-648)AAG>ATG p.K216M DEAF1_uc009ycf.1_RNA NM_021008 NP_066288 O75398 DEAF1_HUMAN deformed epidermal autoregulatory factor 1 216 SAND. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|cytoplasm|extracellular region|nucleus protein binding|zinc ion binding 0 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GAGCCTGTTCTTGTACAGAGT 0.522 NA 17 84 0 0 0 0 TRPM5 29850 broad.mit.edu 37 11 2434782 2434782 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:2434782C>T uc001lwm.3 - 13 1936 c.1927G>A c.(1927-1929)GCA>ACA p.A643T TRPM5_uc010qxl.1_Missense_Mutation_p.A643T|TRPM5_uc009ydn.2_Missense_Mutation_p.A645T NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 643 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) GGCGTGCCTGCGGCCATGTCC 0.647 NA 6 31 0 0 0 0 OR51T1 401665 broad.mit.edu 37 11 4904108 4904108 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:4904108G>A uc010qyp.1 + 1 1060 c.1060G>A c.(1060-1062)GAT>AAT p.D354N NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 327 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) GGGAAGATGGGATTGAAGGTA 0.468 NA 13 84 0 0 0 0 OR51L1 119682 broad.mit.edu 37 11 5020494 5020494 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:5020494C>T uc010qyu.1 + 1 282 c.282C>T c.(280-282)ATC>ATT p.I94I NM_001004755 NP_001004755 Q8NGJ5 O51L1_HUMAN olfactory receptor, family 51, subfamily L, 94 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086) Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) CTCCAGAGATCCAGGCAAGTG 0.478 NA 98 192 0 0 0 0 SWAP70 23075 broad.mit.edu 37 11 9735026 9735026 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:9735026T>C uc001mhw.2 + 3 353 c.254T>C c.(253-255)TTT>TCT p.F85S SWAP70_uc001mhv.2_Missense_Mutation_p.F85S|SWAP70_uc001mhx.2_Intron NM_015055 NP_055870 Q9UH65 SWP70_HUMAN SWAP-70 protein 85 cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding ovary(2)|central_nervous_system(1) 3 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) CAAGACAACTTTGACAAGATT 0.358 NA 47 86 0 0 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077743 19077743 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:19077743G>T uc001mph.2 - 2 295 c.207C>A c.(205-207)CTC>CTA p.L69L NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 69 Helical; Name=2; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 CGGCCAGGCTGAGGACGTAGA 0.537 NA 13 123 6.32e-08 6.74e-08 1 0 CCDC73 493860 broad.mit.edu 37 11 32675537 32675537 + Missense_Mutation SNP T T G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:32675537T>G uc001mtv.2 - 11 865 c.821A>C c.(820-822)CAA>CCA p.Q274P CCDC73_uc001mtw.1_Missense_Mutation_p.Q274P NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 274 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TTTTTCTTCTTGAATATGGGT 0.219 NA 12 25 0 0 0 0 TTC17 55761 broad.mit.edu 37 11 43419614 43419614 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:43419614G>A uc001mxi.2 + 8 1023 c.1009G>A c.(1009-1011)GCT>ACT p.A337T TTC17_uc001mxh.2_Missense_Mutation_p.A337T|TTC17_uc010rfj.1_Missense_Mutation_p.A280T|TTC17_uc001mxj.2_Missense_Mutation_p.A107T NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 337 binding ovary(5) 5 GAGGAAGCATGCTGTCCTATG 0.453 NA 31 74 0 0 0 0 AHNAK 79026 broad.mit.edu 37 11 62286923 62286923 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:62286923G>C uc001ntl.2 - 5 15266 c.14966C>G c.(14965-14967)GCT>GGT p.A4989G AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4989 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CTTGATGTCAGCTTTGGGGCT 0.453 NA 12 203 0 0 0 0 SLC3A2 6520 broad.mit.edu 37 11 62656097 62656097 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:62656097C>G uc001nwd.2 + 12 2049 c.1825C>G c.(1825-1827)CTT>GTT p.L609V SLC3A2_uc001nwb.2_Missense_Mutation_p.L640V|SLC3A2_uc001nwc.2_Missense_Mutation_p.L610V|SLC3A2_uc001nwe.2_Missense_Mutation_p.L578V|SLC3A2_uc001nwf.2_Missense_Mutation_p.L547V|SLC3A2_uc001nwg.2_Missense_Mutation_p.L508V NM_002394 NP_002385 P08195 4F2_HUMAN solute carrier family 3, member 2 isoform c 609 Extracellular (Potential). L -> P (in Ref. 4; AAA35536). blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding 0 GGGCTCCCCTCTTGAGCTGGA 0.667 NA 63 119 0 0 0 0 PPFIA1 8500 broad.mit.edu 37 11 70170534 70170534 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:70170534C>T uc001opo.2 + 3 489 c.291C>T c.(289-291)CTC>CTT p.L97L PPFIA1_uc001opn.1_Silent_p.L97L|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_5'Flank NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 97 Potential. cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) CTAAAGAACTCAATGTATGCA 0.403 NA 20 341 0 0 0 0 EED 8726 broad.mit.edu 37 11 85979511 85979511 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:85979511C>T uc001pbp.2 + 9 1331 c.874C>T c.(874-876)CAG>TAG p.Q292* EED_uc010rtm.1_Nonsense_Mutation_p.Q292*|EED_uc001pbq.2_Nonsense_Mutation_p.Q292*|EED_uc001pbr.2_Nonsense_Mutation_p.Q292*|EED_uc001pbs.2_Intron|EED_uc010rtn.1_Intron NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 292 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) ATTTATTTCTCAGAAAATCCA 0.299 NA 71 71 0 0 0 0 GRM5 2915 broad.mit.edu 37 11 88300894 88300894 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:88300894G>C uc001pcq.2 - 7 2157 c.1957C>G c.(1957-1959)CTC>GTC p.L653V GRM5_uc009yvm.2_Missense_Mutation_p.L653V NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 653 Helical; Name=3; (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GCTGGGGAGAGACCAATGCCA 0.493 NA 16 12 0 0 0 0 CBL 867 broad.mit.edu 37 11 119103214 119103214 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:119103214C>T uc001pwe.2 + 2 390 c.252C>T c.(250-252)ATC>ATT p.I84I NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 84 Cbl-PTB.|4H. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CACCTTATATCTTAGACCTGC 0.428 NA CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 7 67 0 0 0 0 TECTA 7007 broad.mit.edu 37 11 120998984 120998984 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:120998984G>A uc010rzo.1 + 8 2298 c.2298G>A c.(2296-2298)CTG>CTA p.L766L NM_005422 NP_005413 O75443 TECTA_HUMAN tectorin alpha precursor 766 VWFD 2. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix breast(6)|ovary(2)|skin(2) 10 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CTGCTTGGCTGCGGGGACTTC 0.587 NA 21 63 0 0 0 0 SLC6A13 6540 broad.mit.edu 37 12 351877 351877 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:351877G>C uc001qic.1 - 4 434 c.381C>G c.(379-381)GTC>GTG p.V127V SLC6A13_uc009zdj.1_Silent_p.V127V|SLC6A13_uc010sdl.1_Intron|SLC6A13_uc010sdm.1_Silent_p.V8V NM_016615 NP_057699 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter 127 Helical; Name=3; (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) TGATGTAGTAGACGTTGAGGA 0.512 NA 4 11 0 0 0 0 CD163L1 283316 broad.mit.edu 37 12 7556331 7556331 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:7556331G>A uc001qsy.2 - 6 1234 c.1208C>T c.(1207-1209)GCC>GTC p.A403V CD163L1_uc010sge.1_Missense_Mutation_p.A413V NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 403 SRCR 4.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AACCACAAGGGCTTGTTCATT 0.443 NA 86 137 0 0 0 0 FOXJ2 55810 broad.mit.edu 37 12 8196363 8196363 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:8196363G>A uc001qtu.2 + 4 1560 c.475G>A c.(475-477)GAT>AAT p.D159N FOXJ2_uc001qtt.1_Missense_Mutation_p.D159N NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 159 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA 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 factor binding upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) TCCAGATGATGATGTAAGTTC 0.493 NA 19 268 0 0 0 0 KLRG1 10219 broad.mit.edu 37 12 9161668 9161668 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:9161668C>T uc001qvh.2 + 4 466 c.455C>T c.(454-456)TCA>TTA p.S152L KLRG1_uc001qvg.2_Missense_Mutation_p.S152L NM_005810 NP_005801 Q96E93 KLRG1_HUMAN killer cell lectin-like receptor subfamily G, 152 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response integral to membrane receptor activity|sugar binding central_nervous_system(1) 1 CTAAACTTCTCAAGGTAAGGG 0.289 NA 18 24 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12312019 12312019 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:12312019G>C uc001rah.3 - 12 2677 c.2535C>G c.(2533-2535)ATC>ATG p.I845M BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.I845M NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 845 Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CCGTCCAGTAGATATAATCTT 0.483 NA 16 41 0 0 0 0 ATF7IP 55729 broad.mit.edu 37 12 14649234 14649234 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:14649234G>A uc001rbw.2 + 14 3508 c.3350G>A c.(3349-3351)GGA>GAA p.G1117E ATF7IP_uc001rbx.2_Missense_Mutation_p.G1116E|ATF7IP_uc001rby.3_Missense_Mutation_p.G1117E|ATF7IP_uc001rca.2_Missense_Mutation_p.G1117E NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 1117 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 GGATCAACAGGACCTCAGCTC 0.388 NA 16 33 0 0 0 0 PDE3A 5139 broad.mit.edu 37 12 20806970 20806970 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:20806970C>G uc001reh.1 + 15 3037 c.3015C>G c.(3013-3015)ATC>ATG p.I1005M NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 1005 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) AATCCTTCATCTCTCACATTG 0.498 NA 11 75 0 0 0 0 C12orf41 54934 broad.mit.edu 37 12 49075374 49075374 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:49075374C>A uc001rrx.2 - 2 117 c.42G>T c.(40-42)GGG>GGT p.G14G C12orf41_uc001rrw.2_5'Flank|C12orf41_uc001rrz.2_Silent_p.G197G|C12orf41_uc001rry.2_RNA NM_017822 NP_060292 Q9H9L4 CL041_HUMAN hypothetical protein LOC54934 14 ovary(2) 2 GAGTGATCCTCCCCCGATTGG 0.517 NA 12 86 7.93e-07 8.41e-07 1 0 CACNB3 784 broad.mit.edu 37 12 49219528 49219528 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:49219528C>T uc001rsl.1 + 9 919 c.718C>T c.(718-720)CGC>TGC p.R240C CACNB3_uc010sly.1_Missense_Mutation_p.R227C|CACNB3_uc010slz.1_Missense_Mutation_p.R239C|CACNB3_uc001rsk.1_Missense_Mutation_p.R87C NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 240 axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) CATCATTGAGCGCTCCTCTGC 0.567 NA 20 77 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49443980 49443980 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:49443980G>C uc001rta.3 - 11 3391 c.3391C>G c.(3391-3393)CCG>GCG p.P1131A NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1131 Pro-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 TGTGAACCCGGAGCATCAATC 0.637 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 22 30 0 0 0 0 ESPL1 9700 broad.mit.edu 37 12 53687204 53687204 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:53687204G>C uc001sck.2 + 31 6400 c.6309G>C c.(6307-6309)AAG>AAC p.K2103N ESPL1_uc001scj.2_Missense_Mutation_p.K1778N|PFDN5_uc001scl.2_5'Flank|PFDN5_uc001scm.2_5'Flank|PFDN5_uc001scn.2_5'Flank|PFDN5_uc001sco.2_5'Flank NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 2103 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 CCCGACTCAAGTATCTTATTG 0.557 NA 21 89 0 0 0 0 OBFC2B 79035 broad.mit.edu 37 12 56620162 56620162 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:56620162C>T uc001ski.2 + 6 519 c.395C>T c.(394-396)TCA>TTA p.S132L OBFC2B_uc001skk.2_Missense_Mutation_p.S157L|OBFC2B_uc001skj.2_Missense_Mutation_p.S148L NM_024068 NP_076973 Q9BQ15 SOSB1_HUMAN oligonucleotide/oligosaccharide-binding fold 132 double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation SOSS complex protein binding|single-stranded DNA binding ovary(1) 1 AGCAACCCTTCAGCTTCCCAG 0.537 NA Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function 25 143 0 0 0 0 GLS2 27165 broad.mit.edu 37 12 56865620 56865620 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:56865620C>T uc001slj.2 - 17 1868 c.1589G>A c.(1588-1590)GGA>GAA p.G530E GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Missense_Mutation_p.G265E|GLS2_uc009zot.2_Missense_Mutation_p.G191E NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 530 ANK 1. cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TTCGATGTGTCCTAGGAATAT 0.483 NA 69 150 0 0 0 0 NAB2 4665 broad.mit.edu 37 12 57485044 57485044 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:57485044G>C uc001smz.2 + 2 598 c.220G>C c.(220-222)GAG>CAG p.E74Q NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 74 NCD1. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 GCAGCTGTGTGAGGCGGGTGA 0.632 NA 25 219 0 0 0 0 DPY19L2 283417 broad.mit.edu 37 12 63974572 63974572 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:63974572G>C uc001srp.1 - 19 1951 c.1770C>G c.(1768-1770)ATC>ATG p.I590M DPY19L2_uc010sso.1_Missense_Mutation_p.I37M NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 590 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) AAATGCCAAAGATAACCTTCT 0.373 NA 29 86 0 0 0 0 LRRC10 376132 broad.mit.edu 37 12 70004349 70004349 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:70004349C>A uc001svc.2 - 1 594 c.270G>T c.(268-270)CTG>CTT p.L90L NM_201550 NP_963844 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 90 LRR 2. nucleus 0 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CCACCTGGGGCAGAGCCTTGA 0.562 NA 23 56 3.62e-10 3.9e-10 1 0 NUP37 79023 broad.mit.edu 37 12 102492898 102492898 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:102492898G>A uc001tjc.2 - 4 500 c.435C>T c.(433-435)GAC>GAT p.D145D NUP37_uc009zub.1_Silent_p.D145D NM_024057 NP_076962 Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 145 WD 2. carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding ovary(1) 1 AGGTGTGATCGTCACTCACAC 0.343 NA 34 62 0 0 0 0 CRY1 1407 broad.mit.edu 37 12 107393468 107393468 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:107393468C>T uc001tmi.3 - 7 1857 c.998G>A c.(997-999)GGC>GAC p.G333D NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 333 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 GCCTGTCCGGCCTTCCGCCCA 0.473 NA 27 45 0 0 0 0 TCTN1 79600 broad.mit.edu 37 12 111078307 111078307 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:111078307G>C uc009zvs.2 + 8 1071 c.963G>C c.(961-963)GTG>GTC p.V321V TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Silent_p.V261V|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Silent_p.V307V|TCTN1_uc001trn.3_Silent_p.V321V|TCTN1_uc001trj.1_Silent_p.V265V|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron NM_001082537 NP_001076006 Q2MV58 TECT1_HUMAN tectonic family member 1 isoform 2 321 multicellular organismal development extracellular region 0 GCCTTTGCGTGAATGTTGTTC 0.542 NA 16 101 0 0 0 0 CCDC63 160762 broad.mit.edu 37 12 111336787 111336787 + Silent SNP C C T rs141258896 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:111336787C>T uc001trv.1 + 10 1395 c.1200C>T c.(1198-1200)TAC>TAT p.Y400Y CCDC63_uc010sye.1_Silent_p.Y360Y|CCDC63_uc001trw.1_Silent_p.Y315Y NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 400 Potential. skin(6)|ovary(1)|pancreas(1) 8 AGAGCAAGTACGGGGAGGTCA 0.512 NA 16 74 0 0 0 0 CCDC63 160762 broad.mit.edu 37 12 111345227 111345227 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:111345227A>G uc001trv.1 + 12 1834 c.1639A>G c.(1639-1641)AGC>GGC p.S547G CCDC63_uc010sye.1_Missense_Mutation_p.S507G|CCDC63_uc001trw.1_Missense_Mutation_p.S462G NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 547 skin(6)|ovary(1)|pancreas(1) 8 GCGCGGAGACAGCCTGCCTGA 0.517 NA 7 50 0 0 0 0 CCDC64 92558 broad.mit.edu 37 12 120530923 120530923 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:120530923C>T uc001txl.1 + 9 1705 c.1680C>T c.(1678-1680)ATC>ATT p.I560I CCDC64_uc009zwv.1_RNA|CCDC64_uc010sze.1_Silent_p.I231I|CCDC64_uc010szf.1_Silent_p.I257I NM_207311 NP_997194 Q6ZP65 BICR1_HUMAN coiled-coil domain containing 64 560 Golgi to secretory granule transport|neuron projection development centrosome dynactin binding|Rab GTPase binding ovary(2) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) AGCCCAGCATCGCTGAAGGCA 0.602 NA 5 35 0 0 0 0 SNRNP35 11066 broad.mit.edu 37 12 123950297 123950297 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:123950297C>G uc001ufb.1 + 2 326 c.210C>G c.(208-210)GTC>GTG p.V70V SNRNP35_uc010tar.1_Silent_p.V75V|SNRNP35_uc009zxz.2_Silent_p.V75V|SNRNP35_uc001ufc.1_Intron NM_022717 NP_073208 Q16560 U1SBP_HUMAN small nuclear ribonucleoprotein 35kDa (U11/U12) 70 RRM. mRNA processing U12-type spliceosomal complex nucleotide binding|RNA binding 0 TAAAGGAAGTCTTTTCCCGCT 0.517 NA 27 46 0 0 0 0 TMEM132B 114795 broad.mit.edu 37 12 126135268 126135268 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:126135268G>C uc001uhe.1 + 7 1676 c.1668G>C c.(1666-1668)AAG>AAC p.K556N TMEM132B_uc001uhf.1_Missense_Mutation_p.K68N NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 556 Extracellular (Potential). integral to membrane skin(11)|ovary(5)|large_intestine(1)|pancreas(1)|breast(1) 19 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) ATGAGGAGAAGAAGGGACGAG 0.552 NA 4 103 0 0 0 0 TMEM132D 121256 broad.mit.edu 37 12 129566558 129566558 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:129566558C>G uc009zyl.1 - 7 1997 c.1669G>C c.(1669-1671)GAG>CAG p.E557Q TMEM132D_uc001uia.2_Missense_Mutation_p.E95Q NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 557 Extracellular (Potential). integral to membrane p.E557E(1) ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCCTCCTCCTCTTCACTGTCC 0.642 NA 18 96 0 0 0 0 ANKLE2 23141 broad.mit.edu 37 12 133306305 133306305 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:133306305C>G uc001ukx.2 - 11 2510 c.2443G>C c.(2443-2445)GAG>CAG p.E815Q ANKLE2_uc009zyw.1_Missense_Mutation_p.E170Q NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 815 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) CTGGTGACCTCGAGCTGATCC 0.448 NA 10 154 0 0 0 0 FRY 10129 broad.mit.edu 37 13 32818298 32818298 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr13:32818298G>C uc001utx.2 + 47 7303 c.6807G>C c.(6805-6807)AAG>AAC p.K2269N FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2269 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) AAGTTCTGAAGACAATTGAAA 0.438 NA 23 115 0 0 0 0 UGGT2 55757 broad.mit.edu 37 13 96592328 96592328 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr13:96592328C>G uc001vmt.2 - 16 1865 c.1695G>C c.(1693-1695)AAG>AAC p.K565N NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN UDP-glucose ceramide glucosyltransferase-like 2 565 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity ovary(2)|central_nervous_system(1) 3 TTTGATCCTTCTTCACTTTTT 0.279 NA 5 126 0 0 0 0 NALCN 259232 broad.mit.edu 37 13 101756771 101756771 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr13:101756771C>T uc001vox.1 - 25 2953 c.2764G>A c.(2764-2766)GAG>AAG p.E922K NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 922 Extracellular (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) AACACATACTCAGCAATCTGA 0.423 NA 6 101 0 0 0 0 OR4N2 390429 broad.mit.edu 37 14 20295739 20295739 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:20295739C>T uc010tkv.1 + 1 132 c.132C>T c.(130-132)CTC>CTT p.L44L NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 44 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAAATTTTCTCATTATTTTCA 0.448 NA 118 271 0 0 0 0 OR4K15 81127 broad.mit.edu 37 14 20444245 20444245 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:20444245C>G uc010tkx.1 + 1 568 c.568C>G c.(568-570)CTG>GTG p.L190V NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 190 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CACTGTTAATCTGCCATTTTG 0.438 NA 78 219 0 0 0 0 TOX4 9878 broad.mit.edu 37 14 21963395 21963395 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:21963395C>G uc001waz.2 + 8 1752 c.1649C>G c.(1648-1650)TCT>TGT p.S550C TOX4_uc001way.2_Missense_Mutation_p.S420C|TOX4_uc001wba.2_RNA|TOX4_uc010tlu.1_Missense_Mutation_p.S527C|TOX4_uc010tlv.1_Missense_Mutation_p.S420C NM_014828 NP_055643 O94842 TOX4_HUMAN epidermal Langerhans cell protein LCP1 550 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding ovary(1) 1 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) CAGGTTGAGTCTCCTTCTCAG 0.483 NA 63 168 0 0 0 0 DLGAP5 9787 broad.mit.edu 37 14 55625360 55625360 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:55625360C>G uc001xbs.2 - 14 1970 c.1753G>C c.(1753-1755)GAG>CAG p.E585Q DLGAP5_uc001xbt.2_Missense_Mutation_p.E585Q NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 585 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 CTAATTCTCTCTCTCATTGCA 0.393 NA 40 87 0 0 0 0 DLGAP5 9787 broad.mit.edu 37 14 55643828 55643828 + Missense_Mutation SNP T T C rs139172891 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:55643828T>C uc001xbs.2 - 8 1218 c.1001A>G c.(1000-1002)AAT>AGT p.N334S DLGAP5_uc001xbt.2_Missense_Mutation_p.N334S NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 334 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 CAAAAAAGCATTGGCACTTCT 0.378 NA 30 64 0 0 0 0 SPTB 6710 broad.mit.edu 37 14 65233386 65233386 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:65233386G>C uc001xht.2 - 31 6457 c.6403C>G c.(6403-6405)CAC>GAC p.H2135D SPTB_uc001xhr.2_Intron|SPTB_uc001xhs.2_Intron|SPTB_uc001xhu.2_Missense_Mutation_p.H2135D|SPTB_uc010aqi.2_Intron NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 2135 actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) TAGTAGGGGTGAGAGGGCTCT 0.652 NA 41 233 0 0 0 0 ZFP36L1 677 broad.mit.edu 37 14 69256568 69256568 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:69256568G>A uc001xkh.1 - 2 829 c.699C>T c.(697-699)AGC>AGT p.S233S ZFP36L1_uc001xki.1_Silent_p.S233S NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 233 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GGTCATCGGCGCTCAGAATAG 0.522 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 269 0 0 0 0 DCAF5 8816 broad.mit.edu 37 14 69520744 69520744 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:69520744C>T uc001xkp.2 - 9 2878 c.2659G>A c.(2659-2661)GAA>AAA p.E887K DCAF5_uc001xkq.2_Missense_Mutation_p.E886K NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 887 CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 CAGGCCATTTCAGACCCGCAA 0.567 NA 19 193 0 0 0 0 SFRS5 6430 broad.mit.edu 37 14 70235606 70235606 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:70235606G>A uc001xll.2 + 5 1740 c.289G>A c.(289-291)GAT>AAT p.D97N SFRS5_uc001xlm.2_RNA|SFRS5_uc001xln.1_Missense_Mutation_p.D97N|SFRS5_uc001xlo.2_Missense_Mutation_p.D97N|SFRS5_uc001xlp.2_Missense_Mutation_p.D97N|SFRS5_uc001xlq.2_Missense_Mutation_p.D94N NM_006925 NP_008856 Q13243 SRSF5_HUMAN splicing factor, arginine/serine-rich 5 97 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding 0 all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154) ACCTCGAAATGATAGACGGTA 0.453 NA 28 108 0 0 0 0 PCNX 22990 broad.mit.edu 37 14 71485846 71485846 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:71485846C>T uc001xmo.2 + 12 3563 c.3117C>T c.(3115-3117)CTC>CTT p.L1039L PCNX_uc010are.1_Silent_p.L928L|PCNX_uc010arf.1_5'UTR NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 1039 Helical; (Potential). integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AGTTCTGCCTCGTCATAGCCA 0.423 NA 48 323 0 0 0 0 STON2 85439 broad.mit.edu 37 14 81743806 81743806 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:81743806C>T uc010tvu.1 - 4 2050 c.1849G>A c.(1849-1851)GAC>AAC p.D617N STON2_uc001xvk.1_Missense_Mutation_p.D617N|STON2_uc010tvt.1_Missense_Mutation_p.D414N NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 617 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) ACGAGGATGTCATTGAGGCCC 0.532 NA 17 142 0 0 0 0 STON2 85439 broad.mit.edu 37 14 81743896 81743896 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:81743896C>T uc010tvu.1 - 4 1960 c.1759G>A c.(1759-1761)GAC>AAC p.D587N STON2_uc001xvk.1_Missense_Mutation_p.D587N|STON2_uc010tvt.1_Missense_Mutation_p.D384N NM_033104 NP_149095 Q8WXE9 STON2_HUMAN stonin 2 587 MHD. endocytosis|intracellular protein transport|regulation of endocytosis clathrin adaptor complex|nucleolus protein binding skin(3)|pancreas(2) 5 BRCA - Breast invasive adenocarcinoma(234;0.0348) ATCTGGTTGTCTCCTTTGCTC 0.507 NA 14 152 0 0 0 0 KIAA1409 57578 broad.mit.edu 37 14 94103615 94103615 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:94103615G>C uc001ybv.1 + 31 5505 c.5422G>C c.(5422-5424)GAC>CAC p.D1808H KIAA1409_uc001ybs.1_Missense_Mutation_p.D1786H NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1963 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) cctaaaccctgacctggaggg 0 NA 15 56 0 0 0 0 BDKRB1 623 broad.mit.edu 37 14 96730571 96730571 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:96730571G>C uc001yfh.2 + 3 760 c.552G>C c.(550-552)CTG>CTC p.L184L BDKRB1_uc010avn.2_Silent_p.L184L NM_000710 NP_000701 P46663 BKRB1_HUMAN bradykinin receptor B1 184 Extracellular (Potential). elevation of cytosolic calcium ion concentration endoplasmic reticulum|integral to plasma membrane bradykinin receptor activity ovary(3) 3 all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179) COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226) TCCCAGATCTGAACATCACCG 0.592 NA 32 175 0 0 0 0 ATG2B 55102 broad.mit.edu 37 14 96777489 96777489 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr14:96777489C>T uc001yfi.2 - 28 4491 c.4126G>A c.(4126-4128)GAT>AAT p.D1376N NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1376 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GGCTTCATATCTGCCTTGTTA 0.448 NA 35 347 0 0 0 0 RTF1 23168 broad.mit.edu 37 15 41762577 41762577 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:41762577G>T uc001zny.2 + 7 1024 c.1012G>T c.(1012-1014)GAT>TAT p.D338Y NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 338 Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) ATCATCGTCTGATGAAGAAGA 0.443 NA 41 369 9.39e-22 1.04e-21 1 0 TP53BP1 7158 broad.mit.edu 37 15 43749026 43749026 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:43749026C>G uc001zrs.2 - 12 1913 c.1765G>C c.(1765-1767)GAT>CAT p.D589H TP53BP1_uc010udp.1_Missense_Mutation_p.D589H|TP53BP1_uc001zrq.3_Missense_Mutation_p.D594H|TP53BP1_uc001zrr.3_Missense_Mutation_p.D594H|TP53BP1_uc010udq.1_Missense_Mutation_p.D594H NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 589 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) TCTGTATCATCTCCCTTTGTT 0.403 NA Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 70 156 0 0 0 0 FBN1 2200 broad.mit.edu 37 15 48796097 48796097 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:48796097C>G uc001zwx.1 - 17 2328 c.2000G>C c.(1999-2001)AGA>ACA p.R667T NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 667 TB 3. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ACACTGGCCTCTCTTGTATCC 0.488 NA 13 112 0 0 0 0 SHC4 399694 broad.mit.edu 37 15 49176472 49176472 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:49176472G>T uc001zxb.1 - 4 1242 c.813C>A c.(811-813)CTC>CTA p.L271L NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 271 PID. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TCATCAATGTGAGACTGCATG 0.338 NA 18 63 2.94e-08 3.15e-08 1 0 USP3 9960 broad.mit.edu 37 15 63866568 63866568 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:63866568G>T uc002amf.2 + 11 1191 c.1062G>T c.(1060-1062)AAG>AAT p.K354N USP3_uc010uii.1_RNA|USP3_uc002amg.2_Missense_Mutation_p.K269N|USP3_uc002amh.2_Missense_Mutation_p.K332N|USP3_uc010uij.1_Missense_Mutation_p.K310N|USP3_uc010uik.1_Missense_Mutation_p.K105N|USP3_uc010bgs.2_Missense_Mutation_p.K337N|USP3_uc002ami.2_Missense_Mutation_p.K185N NM_006537 NP_006528 Q9Y6I4 UBP3_HUMAN ubiquitin thiolesterase 3 354 DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process nuclear chromatin histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(80;0.0187) AGCGCTCTAAGAATCAAGAAA 0.323 NA 4 77 0.00116845 0.00120958 1 0 HERC1 8925 broad.mit.edu 37 15 63966767 63966767 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:63966767T>A uc002amp.2 - 38 7768 c.7620A>T c.(7618-7620)GAA>GAT p.E2540D NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 2540 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 TGTGGCCATTTTCAGCCAGAA 0.483 NA 9 18 0 0 0 0 IGDCC4 57722 broad.mit.edu 37 15 65702644 65702644 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:65702644G>C uc002aou.1 - 3 645 c.435C>G c.(433-435)TTC>TTG p.F145L NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 145 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GGTGCAGAGAGAAGTCTGCGA 0.557 NA 15 113 0 0 0 0 RPL4 6124 broad.mit.edu 37 15 66791763 66791763 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:66791763C>T uc002apv.2 - 10 1322 c.1266G>A c.(1264-1266)GAG>GAA p.E422E SNAPC5_uc002apu.1_5'Flank|RPL4_uc010bhr.2_Silent_p.E328E|RPL4_uc002apw.2_Silent_p.E328E|RPL4_uc002apx.2_Silent_p.E328E NM_000968 NP_000959 P36578 RL4_HUMAN ribosomal protein L4 422 Lys-rich. endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome 0 CAGGCTTCTTCTCCTCTGTAG 0.413 NA 9 156 0 0 0 0 HCN4 10021 broad.mit.edu 37 15 73659999 73659999 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:73659999C>T uc002avp.2 - 1 1607 c.613G>A c.(613-615)GAG>AAG p.E205K NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 205 Cytoplasmic (Potential). blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) AGGCGCACCTCGGCCTCCGGG 0.682 NA 7 61 0 0 0 0 NPTN 27020 broad.mit.edu 37 15 73862516 73862516 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:73862516C>T uc002avs.2 - 6 1286 c.1089G>A c.(1087-1089)AGG>AGA p.R363R NPTN_uc010bjc.2_Silent_p.R363R|NPTN_uc002avt.2_Silent_p.R247R|NPTN_uc002avr.2_Silent_p.R247R|NPTN_uc010ula.1_Silent_p.R158R NM_012428 NP_036560 Q9Y639 NPTN_HUMAN neuroplastin isoform b precursor 363 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation integral to membrane|plasma membrane|presynaptic membrane cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding 0 CTGGCCTCTTCCTCTTCTCAT 0.512 NA 42 285 0 0 0 0 ETFA 2108 broad.mit.edu 37 15 76584999 76584999 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:76584999G>T uc002bbt.2 - 3 310 c.229C>A c.(229-231)CTG>ATG p.L77M ETFA_uc010bkq.1_Missense_Mutation_p.L28M|ETFA_uc002bbu.1_Missense_Mutation_p.L77M NM_000126 NP_000117 P13804 ETFA_HUMAN electron transfer flavoprotein, alpha 77 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity 0 TGAGCCACCAGAACTTTTGCT 0.358 NA 33 176 1.6e-16 1.76e-16 1 0 LINGO1 84894 broad.mit.edu 37 15 77906720 77906720 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:77906720G>A uc002bct.1 - 2 1581 c.1529C>T c.(1528-1530)GCC>GTC p.A510V LINGO1_uc002bcu.1_Missense_Mutation_p.A504V NM_032808 NP_116197 Q96FE5 LIGO1_HUMAN leucine-rich repeat neuronal 6A 510 Extracellular (Potential).|Ig-like C2-type. negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane ovary(1)|lung(1) 2 ATGCAGGTGGGCGGGCATGGA 0.657 NA 21 71 0 0 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79058055 79058055 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr15:79058055C>T uc002bej.3 - 19 4409 c.4198G>A c.(4198-4200)GAA>AAA p.E1400K ADAMTS7_uc010und.1_3'UTR NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1400 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 GGCCCCGCTTCAGCCAGGCTG 0.692 NA 15 154 0 0 0 0 MSLNL 401827 broad.mit.edu 37 16 823207 823207 + Silent SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:823207G>T uc002cjz.1 - 10 2061 c.2061C>A c.(2059-2061)CTC>CTA p.L687L NM_001025190 NP_001020361 Q96KJ4 MSLNL_HUMAN mesothelin-like 336 Extracellular (Potential). cell adhesion integral to membrane breast(3)|ovary(1) 4 GGTTGGTTCTGAGGATGCAGC 0.627 NA 11 137 1.62e-10 1.75e-10 1 0 C16orf42 115939 broad.mit.edu 37 16 1400230 1400230 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:1400230G>C uc002cll.2 - 4 600 c.532C>G c.(532-534)CCA>GCA p.P178A GNPTG_uc002clm.2_5'Flank NM_001001410 NP_001001410 Q9UJK0 TSR3_HUMAN hypothetical protein LOC115939 178 rRNA processing 0 Hepatocellular(780;0.0893) GCAAGGTCTGGAAAGCCTGAC 0.592 NA 5 47 0 0 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1706343 1706343 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:1706343G>A uc010uvh.1 + 9 1585 c.1585G>A c.(1585-1587)GAA>AAA p.E529K CRAMP1L_uc002cmf.2_Intron NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 529 nucleus DNA binding 0 GACCCCTGCAGAAGGCAGGGA 0.677 NA 10 19 0 0 0 0 CP110 9738 broad.mit.edu 37 16 19543747 19543747 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:19543747G>C uc002dgl.3 + 3 398 c.151G>C c.(151-153)GAG>CAG p.E51Q CP110_uc002dgk.3_Missense_Mutation_p.E51Q O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 51 Potential.|CEP97 binding. centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 GCTTAACATTGAGAAAAGAAA 0.343 NA 16 66 0 0 0 0 SEZ6L2 26470 broad.mit.edu 37 16 29884920 29884920 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:29884920G>A uc002duq.3 - 13 2475 c.2235C>T c.(2233-2235)CTC>CTT p.L745L uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Silent_p.L675L|SEZ6L2_uc002dur.3_Silent_p.L675L|SEZ6L2_uc002dus.3_Silent_p.L631L|SEZ6L2_uc010vec.1_Silent_p.L745L|SEZ6L2_uc010ved.1_Silent_p.L701L NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 745 Sushi 4.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 TGTAGCAGGTGAGCATGGCTG 0.687 NA 11 65 0 0 0 0 MYLPF 29895 broad.mit.edu 37 16 30387201 30387201 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:30387201T>C uc002dxv.1 + 2 120 c.64T>C c.(64-66)TTC>CTC p.F22L NM_013292 NP_037424 Q96A32 MLRS_HUMAN myosin light chain, phosphorylatable, fast 22 skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle 0 Colorectal(24;0.193) CTTCTCCATGTTCGACCAGAC 0.592 NA 11 41 0 0 0 0 PRR14 78994 broad.mit.edu 37 16 30666893 30666894 + Missense_Mutation DNP TG TG AA TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:30666893_30666894TG>AA uc002dyy.2 + 10 1643_1644 c.1385_1386TG>AA c.(1384-1386)ATG>AAA p.M462K PRR14_uc002dyz.2_Missense_Mutation_p.M307K|PRR14_uc002dza.2_Missense_Mutation_p.M462K NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN proline rich 14 462 0 Colorectal(24;0.103) CTTACACCAATGGGACTGCCTC 0.52 NA 7 39 0 0 0 0 PHKG2 5261 broad.mit.edu 37 16 30767526 30767526 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:30767526C>G uc002dzk.1 + 7 673 c.580C>G c.(580-582)CTA>GTA p.L194V PHKG2_uc002dzi.1_Missense_Mutation_p.L194V|PHKG2_uc002dzj.1_Missense_Mutation_p.L92V NM_000294 NP_000285 P15735 PHKG2_HUMAN phosphorylase kinase, gamma 2 (testis) 194 Protein kinase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol ATP binding|calmodulin binding|phosphorylase kinase activity ovary(1) 1 Colorectal(24;0.198) CCCAGGGTATCTAGCGCCAGA 0.597 NA 77 183 0 0 0 0 NLRC5 84166 broad.mit.edu 37 16 57060138 57060138 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:57060138C>T uc002ekk.1 + 6 1508 c.1283C>T c.(1282-1284)TCT>TTT p.S428F NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Missense_Mutation_p.S233F|NLRC5_uc002ekl.2_Missense_Mutation_p.S233F|NLRC5_uc002ekm.2_Missense_Mutation_p.S233F|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 428 NACHT. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CCAGGCCAGTCTGTGGCCCTC 0.637 NA 72 111 0 0 0 0 CHST5 23563 broad.mit.edu 37 16 75563052 75563052 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:75563052C>G uc002fei.2 - 3 2626 c.1231G>C c.(1231-1233)GAC>CAC p.D411H CHST5_uc002fej.1_Missense_Mutation_p.D417H NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 411 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 AGTTCTCAGTCAGGCGATGCC 0.662 NA 14 28 0 0 0 0 CHST5 23563 broad.mit.edu 37 16 75563522 75563522 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr16:75563522C>G uc002fei.2 - 3 2156 c.761G>C c.(760-762)TGG>TCG p.W254S CHST5_uc002fej.1_Missense_Mutation_p.W260S NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 254 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GGCCTCCACCCACTTGCCGTT 0.731 NA 31 68 0 0 0 0 KIAA0664 23277 broad.mit.edu 37 17 2600219 2600219 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:2600219T>A uc002fuy.1 - 11 1951 c.1865A>T c.(1864-1866)AAG>ATG p.K622M KIAA0664_uc002fux.1_Missense_Mutation_p.K554M|KIAA0664_uc010ckc.1_5'Flank NM_015229 NP_056044 O75153 K0664_HUMAN hypothetical protein LOC23277 622 binding breast(2) 2 GGCGGCCAGCTTCATAAAGAG 0.627 NA 6 8 0 0 0 0 P2RX1 5023 broad.mit.edu 37 17 3803019 3803019 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:3803019C>T uc002fww.2 - 8 1225 c.784G>A c.(784-786)GAC>AAC p.D262N NM_002558 NP_002549 P51575 P2RX1_HUMAN purinergic receptor P2X1 262 Extracellular (Potential). platelet activation integral to plasma membrane calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity ovary(1)|skin(1) 2 LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173) CAGTCCAGGTCACAGTGCCAG 0.512 NA 7 109 0 0 0 0 ZZEF1 23140 broad.mit.edu 37 17 4015950 4015950 + Missense_Mutation SNP A A C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4015950A>C uc002fxe.2 - 5 1083 c.1019T>G c.(1018-1020)GTC>GGC p.V340G ZZEF1_uc002fxk.1_Missense_Mutation_p.V340G NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 340 DOC. calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 ATAGCCAGTGACATTGCTGGG 0.512 NA 31 69 0 0 0 0 ALOX15 246 broad.mit.edu 37 17 4542786 4542786 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4542786G>A uc002fyh.2 - 2 290 c.276C>T c.(274-276)GTC>GTT p.V92V ALOX15_uc010vsd.1_Silent_p.V53V|ALOX15_uc010vse.1_Silent_p.V114V NM_001140 NP_001131 P16050 LOX15_HUMAN arachidonate 15-lipoxygenase 92 PLAT. inflammatory response|leukotriene biosynthetic process nucleus arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity skin(3)|ovary(1)|lung(1) 5 READ - Rectum adenocarcinoma(115;0.0327) Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744) AAGGGAACCTGACCTCGTCCC 0.647 NA 19 85 0 0 0 0 SPAG7 9552 broad.mit.edu 37 17 4862900 4862900 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4862900C>T uc002gae.2 - 7 646 c.613G>A c.(613-615)GAG>AAG p.E205K SPAG7_uc002gad.2_Missense_Mutation_p.E154K|SPAG7_uc002gaf.2_3'UTR NM_004890 NP_004881 O75391 SPAG7_HUMAN sperm associated antigen 7 205 nucleus nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 TTCATAGCCTCTTCAATGGAG 0.617 NA 79 129 0 0 0 0 SPAG7 9552 broad.mit.edu 37 17 4862903 4862903 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4862903C>T uc002gae.2 - 7 643 c.610G>A c.(610-612)GAA>AAA p.E204K SPAG7_uc002gad.2_Missense_Mutation_p.E153K|SPAG7_uc002gaf.2_3'UTR NM_004890 NP_004881 O75391 SPAG7_HUMAN sperm associated antigen 7 204 nucleus nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 ATAGCCTCTTCAATGGAGCGT 0.617 NA 75 129 0 0 0 0 SPAG7 9552 broad.mit.edu 37 17 4863614 4863614 + Splice_Site SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:4863614C>A uc002gae.2 - 4 276 c.243_splice c.e4-1 p.L81_splice SPAG7_uc002gad.2_Splice_Site_p.L30_splice|SPAG7_uc002gaf.2_Splice_Site_p.L81_splice NM_004890 NP_004881 O75391 SPAG7_HUMAN sperm associated antigen 7 nucleus nucleic acid binding|protein binding ovary(1)|central_nervous_system(1) 2 CACATCATGTCTGGGATGGGA 0.567 NA 31 46 2.52e-32 2.82e-32 1 0 POLR2A 5430 broad.mit.edu 37 17 7417029 7417029 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:7417029C>G uc002ghf.3 + 29 5680 c.5446C>G c.(5446-5448)CCA>GCA p.P1816A NM_000937 NP_000928 P24928 RPB1_HUMAN DNA-directed RNA polymerase II A 1816 32.|52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN]. mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding pancreas(1) 1 Prostate(122;0.173) ACCACAGTCTCCAACCTATAC 0.443 NA 146 279 0 0 0 0 CHD3 1107 broad.mit.edu 37 17 7812049 7812049 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:7812049G>T uc002gje.2 + 36 5446 c.5296G>T c.(5296-5298)GAT>TAT p.D1766Y CHD3_uc002gjd.2_Missense_Mutation_p.D1825Y|CHD3_uc002gjf.2_Missense_Mutation_p.D1732Y|CHD3_uc002gjh.2_Missense_Mutation_p.D343Y|CHD3_uc002gjj.2_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1766 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) CATCCAGAATGATGCTCAATT 0.443 NA 26 218 4.72e-08 5.04e-08 1 0 DNAH9 1770 broad.mit.edu 37 17 11835359 11835359 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:11835359C>T uc002gne.2 + 64 12202 c.12134C>T c.(12133-12135)ACG>ATG p.T4045M DNAH9_uc010coo.2_Missense_Mutation_p.T3263M|DNAH9_uc002gnf.2_Missense_Mutation_p.T357M NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 4045 AAA 6 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCTCGGGAGACGGAGTTTAAG 0.498 NA 10 475 0 0 0 0 FLOT2 2319 broad.mit.edu 37 17 27209040 27209040 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:27209040C>T uc002hdc.2 - 8 829 c.706G>A c.(706-708)GAG>AAG p.E236K NM_004475 NP_004466 Q14254 FLOT2_HUMAN flotillin 2 236 cell adhesion|epidermis development cell surface|endocytic vesicle|endosome|membrane fraction 0 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) AACTGGGCCTCAGCTGTCTGT 0.572 NA 18 54 0 0 0 0 RFFL 117584 broad.mit.edu 37 17 33348692 33348692 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:33348692G>A uc002hin.1 - 3 462 c.289C>T c.(289-291)CAG>TAG p.Q97* RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Nonsense_Mutation_p.Q97*|RFFL_uc010cti.1_Nonsense_Mutation_p.Q103*|RFFL_uc002hip.1_Nonsense_Mutation_p.Q97*|RFFL_uc002hio.1_Nonsense_Mutation_p.Q97* NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 97 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) TCCTCTCGCTGAAAGGCTGTA 0.512 NA 16 128 0 0 0 0 NLE1 54475 broad.mit.edu 37 17 33469078 33469078 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:33469078G>A uc002hiy.1 - 2 110 c.82C>T c.(82-84)CTG>TTG p.L28L NLE1_uc010ctn.1_5'UTR|NLE1_uc002hiz.1_5'UTR NM_018096 NP_060566 Q9NVX2 NLE1_HUMAN Notchless gene homolog isoform a 28 nucleolus breast(3)|ovary(1) 4 Ovarian(249;0.17) GAACCCAGCAGCTGCCCGCCC 0.687 NA 7 26 0 0 0 0 GPR179 440435 broad.mit.edu 37 17 36486529 36486529 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:36486529C>A uc002hpz.2 - 11 2944 c.2923G>T c.(2923-2925)GCC>TCC p.A975S NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 975 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ggtgccagggcaggggctggg 0.453 NA 22 43 3.1e-05 3.26e-05 1 0 ERBB2 2064 broad.mit.edu 37 17 37880180 37880180 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:37880180G>C uc002hso.2 + 19 2462 c.2224G>C c.(2224-2226)GAT>CAT p.D742H ERBB2_uc002hsm.2_Missense_Mutation_p.D712H|ERBB2_uc010cwa.2_Missense_Mutation_p.D727H|ERBB2_uc002hsp.2_Missense_Mutation_p.D545H|ERBB2_uc010cwb.2_Missense_Mutation_p.D742H|ERBB2_uc010wek.1_Missense_Mutation_p.D466H NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 742 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CTGGATCCCTGATGGGGAGAA 0.502 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 4 67 0 0 0 0 EIF1 10209 broad.mit.edu 37 17 39847033 39847033 + Splice_Site SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:39847033G>A uc002hxj.2 + 4 462 c.298_splice c.e4-1 p.I100_splice JUP_uc010wfs.1_Intron|EIF1_uc002hxk.2_Splice_Site NM_005801 NP_005792 P41567 EIF1_HUMAN eukaryotic translation initiation factor 1 regulation of translational initiation|response to stress cytoplasm translation initiation factor activity 0 Breast(137;0.000307) BRCA - Breast invasive adenocarcinoma(4;0.0677) TGTCTTTTCAGATTGGACTGG 0.443 NA 37 120 0 0 0 0 HAP1 9001 broad.mit.edu 37 17 39881154 39881154 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:39881154C>T uc002hxm.1 - 12 1827 c.1815G>A c.(1813-1815)ATG>ATA p.M605I JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.M553I|HAP1_uc002hxo.1_Missense_Mutation_p.M536I|HAP1_uc002hxp.1_Missense_Mutation_p.M528I NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 605 brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) TCACCACGTTCATCCGCGTTG 0.607 NA 184 319 0 0 0 0 HAP1 9001 broad.mit.edu 37 17 39881246 39881246 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:39881246C>G uc002hxm.1 - 12 1735 c.1723G>C c.(1723-1725)GAG>CAG p.E575Q JUP_uc010wfs.1_Intron|HAP1_uc002hxn.1_Missense_Mutation_p.E523Q|HAP1_uc002hxo.1_Missense_Mutation_p.E506Q|HAP1_uc002hxp.1_Missense_Mutation_p.E498Q NM_177977 NP_817084 P54257 HAP1_HUMAN huntingtin-associated protein 1 isoform 2 575 Glu-rich. brain development|protein localization|synaptic transmission actin cytoskeleton protein binding ovary(2) 2 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.0677) ACCCCTTCCTCAGCCGGCACC 0.627 NA 187 410 0 0 0 0 ETV4 2118 broad.mit.edu 37 17 41622708 41622708 + Nonsense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:41622708C>A uc002idw.2 - 3 216 c.88G>T c.(88-90)GAA>TAA p.E30* ETV4_uc010wih.1_Nonsense_Mutation_p.E30*|ETV4_uc010czh.2_Nonsense_Mutation_p.E30*|ETV4_uc010wii.1_5'UTR|ETV4_uc002idx.2_Nonsense_Mutation_p.E30*|ETV4_uc010wij.1_5'UTR|ETV4_uc002idy.1_5'UTR NM_001986 NP_001977 P43268 ETV4_HUMAN ets variant gene 4 (E1A enhancer binding 30 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6) bone(4)|soft_tissue(2)|ovary(1) 7 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) ATCAGCGCTTCGCGCAAGCTC 0.647 NA T EWSR1|TMPRSS2|DDX5|KLK2|CANT1 Ewing sarcoma|Prostate carcinoma 7 19 0.00198382 0.00204915 1 0 CCDC43 124808 broad.mit.edu 37 17 42757999 42757999 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:42757999C>G uc002ihc.2 - 4 485 c.441G>C c.(439-441)GAG>GAC p.E147D CCDC43_uc010czw.1_Intron NM_144609 NP_653210 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 isoform 1 147 0 Prostate(33;0.0322) AATCATCCTTCTCATCTGCTT 0.408 NA 26 165 0 0 0 0 INTS2 57508 broad.mit.edu 37 17 59968949 59968949 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:59968949C>T uc002izn.2 - 14 1900 c.1824G>A c.(1822-1824)TCG>TCA p.S608S INTS2_uc002izm.2_Silent_p.S600S NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 608 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 GATTAGATTTCGACGCAGGAG 0.373 NA 66 114 0 0 0 0 MED13 9969 broad.mit.edu 37 17 60060429 60060429 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:60060429G>C uc002izo.2 - 16 3012 c.2935C>G c.(2935-2937)CAA>GAA p.Q979E NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 979 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 GTATGAGTTTGAGGTGTATAA 0.418 NA 9 62 0 0 0 0 MRC2 9902 broad.mit.edu 37 17 60758228 60758228 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:60758228G>A uc002jad.2 + 17 2943 c.2541G>A c.(2539-2541)GCG>GCA p.A847A MRC2_uc002jae.2_5'UTR|MRC2_uc002jaf.2_5'Flank NM_006039 NP_006030 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 847 Extracellular (Potential).|C-type lectin 5. endocytosis integral to membrane receptor activity|sugar binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCACGTGGGCGCAGGCGCAGC 0.667 NA 3 46 0 0 0 0 MARCH10 162333 broad.mit.edu 37 17 60814396 60814396 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:60814396G>C uc010ddr.2 - 6 1071 c.833C>G c.(832-834)TCC>TGC p.S278C MARCH10_uc002jag.3_Missense_Mutation_p.S278C|MARCH10_uc010dds.2_Missense_Mutation_p.S316C|MARCH10_uc002jah.2_Missense_Mutation_p.S277C|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 278 ligase activity|zinc ion binding 0 TGACAAAATGGAATAAAAGTC 0.488 NA 101 376 0 0 0 0 RECQL5 9400 broad.mit.edu 37 17 73658604 73658604 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr17:73658604C>T uc010dgl.2 - 4 882 c.726G>A c.(724-726)CTG>CTA p.L242L RECQL5_uc010dgk.2_Silent_p.L215L|RECQL5_uc002jpb.1_Silent_p.L242L|RECQL5_uc002joz.3_Silent_p.L242L|RECQL5_uc002jpa.3_Silent_p.L242L NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 242 Helicase C-terminal. DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) AGAAGTCCTTCAGGTTCCCAT 0.512 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 223 410 0 0 0 0 CIDEA 1149 broad.mit.edu 37 18 12264384 12264384 + Nonsense_Mutation SNP G G T rs139948292 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:12264384G>T uc002kqt.3 + 3 327 c.262G>T c.(262-264)GAG>TAG p.E88* CIDEA_uc002kqu.3_Nonsense_Mutation_p.E122*|CIDEA_uc010dlc.2_RNA NM_001279 NP_001270 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a isoform 88 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity ovary(1)|central_nervous_system(1) 2 GGACACAGAAGAGTTCTTTCA 0.512 NA 33 64 1.62e-16 1.77e-16 1 0 CTAGE1 64693 broad.mit.edu 37 18 19996658 19996658 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:19996658C>T uc002ktv.1 - 1 1221 c.1117G>A c.(1117-1119)GAG>AAG p.E373K NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 373 Potential. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CATTTTTCCTCTACTATTAAT 0.368 NA 17 109 0 0 0 0 C18orf21 83608 broad.mit.edu 37 18 33554876 33554876 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:33554876G>C uc002kzc.2 + 3 222 c.118G>C c.(118-120)GAA>CAA p.E40Q C18orf21_uc002kzd.2_5'UTR NM_031446 NP_113634 Q32NC0 CR021_HUMAN chromosome 18 open reading frame 21 40 0 GAGCACTTTTGAAGAAACGTG 0.353 NA 25 118 0 0 0 0 SERPINB4 6318 broad.mit.edu 37 18 61328411 61328411 + Missense_Mutation SNP C C G rs148776258 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr18:61328411C>G uc002ljg.2 - 1 66 c.40G>C c.(40-42)GAC>CAC p.D14H SERPINB3_uc002lji.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqa.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqb.2_Missense_Mutation_p.D14H|SERPINB3_uc010dqc.2_Missense_Mutation_p.D14H P48594 SPB4_HUMAN SubName: Full=Squamous cell carcinoma antigen 2; 14 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 TGGAACAGGTCGAACATGAAC 0.428 NA 87 226 0 0 0 0 GNA15 2769 broad.mit.edu 37 19 3148635 3148635 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:3148635C>T uc002lxf.2 + 2 450 c.192C>T c.(190-192)ATC>ATT p.I64I GNA15_uc010xhf.1_Silent_p.I64I NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 64 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) AGATGCGGATCATCCACGGCG 0.657 NA 4 8 0 0 0 0 PTPRS 5802 broad.mit.edu 37 19 5274263 5274264 + Missense_Mutation DNP GC GC AA TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:5274263_5274264GC>AA uc002mbv.2 - 3 417_418 c.183_184GC>TT c.(181-186)AAGCCA>AATTCA p.61_62KP>NS PTPRS_uc002mbu.1_Missense_Mutation_p.61_62KP>NS|PTPRS_uc010xin.1_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbw.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbx.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mby.2_Missense_Mutation_p.61_62KP>NS|PTPRS_uc002mbz.1_Missense_Mutation_p.61_62KP>NS NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 61_62 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTCACTCGTGGCTTGGGGTCAC 0.604 NA 20 50 0 0 0 0 CAPS 828 broad.mit.edu 37 19 5914740 5914740 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:5914740C>A uc002mdt.2 + 3 400 c.250C>A c.(250-252)CGG>AGG p.R84R CAPS_uc002mdu.2_Silent_p.R84R NM_004058 NP_004049 Q13938 CAYP1_HUMAN calcyphosine isoform a 84 EF-hand 2. intracellular signal transduction cytoplasm calcium ion binding 0 GGAGTTCCTTCGGGCGCTGCG 0.667 NA 30 109 2.61e-14 2.85e-14 1 0 MYO1F 4542 broad.mit.edu 37 19 8601428 8601428 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:8601428C>G uc002mkg.2 - 18 1967 c.1853G>C c.(1852-1854)AGA>ACA p.R618T NM_012335 NP_036467 O00160 MYO1F_HUMAN myosin IF 618 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(1) 3 GAAGCCGGCTCTGCGCACCCT 0.652 NA 39 81 0 0 0 0 ZNF559 84527 broad.mit.edu 37 19 9452472 9452472 + Silent SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:9452472A>G uc002mlg.2 + 7 992 c.345A>G c.(343-345)AGA>AGG p.R115R ZNF559_uc002mlf.2_5'UTR|ZNF559_uc010dwl.1_5'UTR|ZNF559_uc010xkn.1_Silent_p.R107R|ZNF559_uc010dwm.1_3'UTR|ZNF559_uc002mle.3_Silent_p.R179R|ZNF559_uc010dwk.1_5'UTR|ZNF559_uc002mld.2_3'UTR|ZNF559_uc010dwo.1_Intron|ZNF177_uc002mli.2_Intron|ZNF177_uc002mlj.2_Intron NM_032497 NP_115886 Q9BR84 ZN559_HUMAN zinc finger protein 559 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTTACTTTAGAAAGAAAACCT 0.373 NA 10 82 0 0 0 0 ICAM1 3383 broad.mit.edu 37 19 10395132 10395132 + Nonsense_Mutation SNP G G T rs143008699 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:10395132G>T uc002mnq.2 + 5 1298 c.979G>T c.(979-981)GAG>TAG p.E327* ICAM1_uc010xle.1_Nonsense_Mutation_p.E105*|ICAM4_uc002mnr.1_5'Flank|ICAM4_uc002mns.1_5'Flank|ICAM4_uc002mnt.1_5'Flank NM_000201 NP_000192 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 precursor 327 Ig-like C2-type 4.|Extracellular (Potential). adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) AGAAGGGACCGAGGTGACAGT 0.642 NA 44 91 1.42e-22 1.57e-22 1 0 LDLR 3949 broad.mit.edu 37 19 11231182 11231182 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:11231182G>A uc002mqk.3 + 14 2292 c.2124G>A c.(2122-2124)ATG>ATA p.M708I LDLR_uc010xlk.1_Missense_Mutation_p.M708I|LDLR_uc010xll.1_Missense_Mutation_p.M667I|LDLR_uc010xlm.1_Missense_Mutation_p.M561I|LDLR_uc010xln.1_Intron|LDLR_uc010xlo.1_Missense_Mutation_p.M540I NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 708 EGF-like 3.|Extracellular (Potential). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CCAGGGACATGAGGAGCTGCC 0.527 NA 12 67 0 0 0 0 USE1 55850 broad.mit.edu 37 19 17330509 17330509 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:17330509G>A uc002nfo.2 + 8 727 c.667G>A c.(667-669)GAG>AAG p.E223K USE1_uc010eal.1_3'UTR NM_018467 NP_060937 Q9NZ43 USE1_HUMAN unconventional SNARE in the ER 1 homolog 223 Cytoplasmic (Potential).|Potential. lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane protein binding 0 AGAGCGTCTGGAGCAGCACAC 0.522 NA 32 74 0 0 0 0 PLVAP 83483 broad.mit.edu 37 19 17476503 17476503 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:17476503G>C uc002ngk.1 - 3 821 c.771C>G c.(769-771)CTC>CTG p.L257L NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 257 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 GGGGATGGTAGAGGTTGTAAC 0.607 NA 5 130 0 0 0 0 CILP2 148113 broad.mit.edu 37 19 19656361 19656361 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:19656361C>A uc002nmv.3 + 8 3092 c.3007C>A c.(3007-3009)CGG>AGG p.R1003R CILP2_uc002nmw.3_Silent_p.R1009R NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 1003 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 GTTCGACCAGCGGCAGGTGGA 0.682 NA 16 15 5.35e-07 5.69e-07 1 0 ZNF486 90649 broad.mit.edu 37 19 20308540 20308540 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:20308540G>C uc002nou.2 + 4 1078 c.1021G>C c.(1021-1023)GAG>CAG p.E341Q NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 341 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAGTAAACATGAGAAGATTCA 0.398 NA 23 53 0 0 0 0 NUDT19 390916 broad.mit.edu 37 19 33183421 33183421 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:33183421C>G uc010edf.2 + 1 555 c.555C>G c.(553-555)CTC>CTG p.L185L NM_001105570 NP_001099040 A8MXV4 NUD19_HUMAN nudix (nucleoside diphosphate linked moiety 185 Nudix hydrolase. mitochondrion|peroxisome hydrolase activity|metal ion binding 0 Esophageal squamous(110;0.137) GCGCCCACCTCGACTGCACAC 0.721 NA 5 8 0 0 0 0 FFAR2 2867 broad.mit.edu 37 19 35941408 35941408 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:35941408C>G uc002nzg.2 + 2 872 c.792C>G c.(790-792)CTC>CTG p.L264L FFAR2_uc010eea.2_Silent_p.L264L NM_005306 NP_005297 O15552 FFAR2_HUMAN free fatty acid receptor 2 264 Helical; Name=7; (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding central_nervous_system(1) 1 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TCAGTTCACTCAACGCCAGTC 0.582 NA 53 196 0 0 0 0 ARHGAP33 115703 broad.mit.edu 37 19 36278704 36278704 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:36278704C>T uc002obs.1 + 21 2839 c.2754C>T c.(2752-2754)CTC>CTT p.L918L ARHGAP33_uc002obt.1_Silent_p.L915L|ARHGAP33_uc010eel.2_Intron|ARHGAP33_uc002obv.1_Silent_p.L667L NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 1079 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 CTGCACCACTCGACAGGGGAG 0.672 NA 39 100 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40357470 40357470 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:40357470G>C uc002omp.3 - 34 15851 c.15843C>G c.(15841-15843)GTC>GTG p.V5281V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 5281 VWFD 13. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGCAGATCTGGACTTCGGCAA 0.572 NA 10 76 0 0 0 0 ZNF780A 284323 broad.mit.edu 37 19 40581109 40581109 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:40581109T>C uc002omy.2 - 6 1465 c.1240A>G c.(1240-1242)ATA>GTA p.I414V ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.I414V|ZNF780A_uc010xvh.1_Missense_Mutation_p.I415V NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 414 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) TATGGTTTTATACCAGCATGA 0.383 NA 6 418 0 0 0 0 IRGQ 126298 broad.mit.edu 37 19 44097009 44097009 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:44097009C>G uc002oww.2 - 2 1159 c.1041G>C c.(1039-1041)GAG>GAC p.E347D IRGQ_uc010eiv.2_Missense_Mutation_p.E347D NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 347 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) CCTTGGGATTCTCCATCTTGC 0.587 NA 8 359 0 0 0 0 ZNF331 55422 broad.mit.edu 37 19 54080952 54080952 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:54080952G>A uc002qbx.1 + 7 2572 c.1138G>A c.(1138-1140)GAA>AAA p.E380K ZNF331_uc002qby.1_Missense_Mutation_p.E380K|ZNF331_uc002qbz.1_Missense_Mutation_p.E380K|ZNF331_uc002qca.1_Missense_Mutation_p.E380K|ZNF331_uc010eqr.1_Missense_Mutation_p.E380K|ZNF331_uc002qcb.1_Missense_Mutation_p.E380K|ZNF331_uc002qcc.1_Missense_Mutation_p.E380K|ZNF331_uc002qcd.1_Missense_Mutation_p.E380K NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN zinc finger protein 331 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|lung(1) 6 GBM - Glioblastoma multiforme(134;0.00555) CCACACAGGCGAAACCCCGTA 0.498 NA T ? follicular thyroid adenoma 31 56 0 0 0 0 LILRB5 10990 broad.mit.edu 37 19 54758747 54758747 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:54758747G>A uc002qex.2 - 6 1217 c.1106C>T c.(1105-1107)TCA>TTA p.S369L LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.S360L|LILRB5_uc002qey.2_Missense_Mutation_p.S369L|LILRB5_uc002qez.2_Missense_Mutation_p.S269L|LILRB5_uc002qfa.1_Missense_Mutation_p.S259L|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 369 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGTACTTTGACTTTAGACA 0.527 NA 7 84 0 0 0 0 ZNF628 89887 broad.mit.edu 37 19 55994342 55994342 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:55994342C>A uc002qld.2 + 3 2335 c.1770C>A c.(1768-1770)TTC>TTA p.F590L NAT14_uc002qle.1_5'Flank NM_033113 NP_149104 Q5EBL2 ZN628_HUMAN zinc finger protein 628 590 C2H2-type 15. nucleus DNA binding|zinc ion binding 0 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) AGCGGCCCTTCCGCTGCCCGC 0.711 NA 4 29 0.00909568 0.00931342 1 0 ZNF835 90485 broad.mit.edu 37 19 57175754 57175754 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:57175754G>A uc010ygo.1 - 2 879 c.879C>T c.(877-879)ATC>ATT p.I293I ZNF835_uc010ygn.1_Silent_p.I271I NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 CCTCCGTGTGGATGCGCTGGT 0.682 NA 6 4 0 0 0 0 ZIK1 284307 broad.mit.edu 37 19 58101557 58101557 + Silent SNP T T G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr19:58101557T>G uc002qpg.2 + 4 475 c.378T>G c.(376-378)GTT>GTG p.V126V ZNF547_uc002qpm.3_Intron|ZIK1_uc002qph.2_Silent_p.V71V|ZIK1_uc002qpi.2_Silent_p.V113V|ZIK1_uc002qpj.2_Silent_p.V23V NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 126 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CATACTTGGTTGGAGAATGTA 0.463 NA 41 84 0 0 0 0 KCNF1 3754 broad.mit.edu 37 2 11053214 11053214 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:11053214C>T uc002rax.2 + 1 1152 c.662C>T c.(661-663)ACG>ATG p.T221M NM_002236 NP_002227 Q9H3M0 KCNF1_HUMAN potassium voltage-gated channel, subfamily F, 221 voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128) GAGCACCCGACGCTGGAGAAC 0.637 NA 16 36 0 0 0 0 CENPO 79172 broad.mit.edu 37 2 25039552 25039552 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:25039552G>C uc002rfo.1 + 6 821 c.632G>C c.(631-633)AGA>ACA p.R211T CENPO_uc002rfp.1_Missense_Mutation_p.R205T|CENPO_uc002rfq.1_Missense_Mutation_p.R211T NM_024322 NP_077298 Q9BU64 CENPO_HUMAN centromere protein O 211 cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm protein binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCCTTGCAGAGAAACCCACTG 0.493 NA 265 571 0 0 0 0 GPR113 165082 broad.mit.edu 37 2 26534512 26534512 + Missense_Mutation SNP C C T rs148160413 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:26534512C>T uc002rhe.3 - 11 2084 c.2084G>A c.(2083-2085)CGG>CAG p.R695Q GPR113_uc010yky.1_Missense_Mutation_p.R626Q|GPR113_uc002rhb.1_Missense_Mutation_p.R298Q|GPR113_uc010eyk.1_Missense_Mutation_p.R496Q|GPR113_uc002rhc.1_Missense_Mutation_p.R298Q|GPR113_uc002rhd.1_RNA NM_001145168 NP_001138640 Q8IZF5 GP113_HUMAN G-protein coupled receptor 113 isoform 1 695 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGAAGGCCCGGTCACCTGC 0.577 NA 13 27 0 0 0 0 C2orf39 92749 broad.mit.edu 37 2 26679336 26679336 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:26679336C>G uc002rhg.2 + 17 2248 c.2174C>G c.(2173-2175)TCT>TGT p.S725C NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 725 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGATCAACTCTGAACTGCAA 0.557 NA 10 68 0 0 0 0 AGBL5 60509 broad.mit.edu 37 2 27278716 27278716 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:27278716G>A uc002rie.2 + 7 1292 c.1075G>A c.(1075-1077)GAT>AAT p.D359N AGBL5_uc002ric.2_Missense_Mutation_p.D359N|AGBL5_uc002rid.2_Missense_Mutation_p.D359N|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 359 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCCCTCCTGATGCTCCTGT 0.527 NA 25 118 0 0 0 0 FOSL2 2355 broad.mit.edu 37 2 28634820 28634820 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:28634820G>C uc002rma.2 + 4 1295 c.486G>C c.(484-486)GAG>GAC p.E162D FOSL2_uc010ymi.1_Missense_Mutation_p.E123D NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 162 Leucine-zipper. cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) TGGAGGAGGAGAAGTCAGGCC 0.557 NA 4 91 0 0 0 0 NRXN1 9378 broad.mit.edu 37 2 50850564 50850564 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:50850564G>T uc010fbq.2 - 6 2598 c.1121C>A c.(1120-1122)TCT>TAT p.S374Y NRXN1_uc002rxb.3_Missense_Mutation_p.S21Y|NRXN1_uc002rxe.3_Missense_Mutation_p.S341Y|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AATGACCAGAGAGACAGCTCC 0.438 NA 30 146 5.83e-16 6.38e-16 1 0 ELMOD3 84173 broad.mit.edu 37 2 85598302 85598302 + Nonsense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:85598302G>T uc002spf.3 + 10 1119 c.454G>T c.(454-456)GAA>TAA p.E152* ELMOD3_uc010fgg.2_RNA|ELMOD3_uc002spg.3_Nonsense_Mutation_p.E152*|ELMOD3_uc002sph.3_Nonsense_Mutation_p.E152*|ELMOD3_uc010ysn.1_Nonsense_Mutation_p.E152*|ELMOD3_uc010yso.1_RNA|ELMOD3_uc010ysp.1_RNA NM_001135021 NP_001128493 Q96FG2 ELMD3_HUMAN ELMO/CED-12 domain containing 3 isoform b 152 phagocytosis cytoskeleton ovary(2) 2 CCTTCGGGAAGAAAGGGACTT 0.587 NA 11 128 0.000978159 0.00101483 1 0 PCDP1 200373 broad.mit.edu 37 2 120369265 120369265 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:120369265C>T uc002tmb.2 + 14 1492 c.400C>T c.(400-402)CAG>TAG p.Q134* PCDP1_uc010yyq.1_Nonsense_Mutation_p.Q264* NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 420 cilium calmodulin binding 0 Colorectal(110;0.196) TGAGGAATTTCAGCGACTTAA 0.333 NA 18 46 0 0 0 0 MYO7B 4648 broad.mit.edu 37 2 128394403 128394403 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:128394403C>G uc002top.2 + 46 6217 c.6164C>G c.(6163-6165)TCC>TGC p.S2055C MYO7B_uc002tos.1_Missense_Mutation_p.S165C|MYO7B_uc002tot.2_Missense_Mutation_p.S165C NM_001080527 NP_001073996 Q6PIF6 MYO7B_HUMAN myosin VIIB 2055 FERM 2. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity ovary(1)|pancreas(1) 2 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ACCAAGATCTCCAGCTGGAGC 0.662 NA 3 105 0 0 0 0 NXPH2 11249 broad.mit.edu 37 2 139429126 139429126 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:139429126C>T uc002tvi.2 - 2 161 c.161G>A c.(160-162)AGT>AAT p.S54N NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 54 II. neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) GCGCAGGGGACTGATGATCCT 0.572 NA 89 179 0 0 0 0 UPP2 151531 broad.mit.edu 37 2 158971685 158971685 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:158971685G>C uc002tzp.2 + 3 447 c.253G>C c.(253-255)GAG>CAG p.E85Q UPP2_uc002tzo.2_Missense_Mutation_p.E142Q NM_173355 NP_775491 O95045 UPP2_HUMAN uridine phosphorylase 2 isoform a 85 nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process cytosol|type III intermediate filament uridine phosphorylase activity 0 GCTCGGGTTTGAGGAAGCTGA 0.463 NA 15 179 0 0 0 0 MARCH7 64844 broad.mit.edu 37 2 160604337 160604337 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:160604337C>T uc002uax.2 + 5 658 c.536C>T c.(535-537)TCA>TTA p.S179L MARCH7_uc010foq.2_Missense_Mutation_p.S179L|MARCH7_uc010zcn.1_Missense_Mutation_p.S123L|MARCH7_uc010for.2_Missense_Mutation_p.S141L|MARCH7_uc002uay.2_RNA NM_022826 NP_073737 Q9H992 MARH7_HUMAN axotrophin 179 Ser-rich. ligase activity|zinc ion binding 0 AGAGTTCCTTCATATTCACAA 0.328 NA 58 67 0 0 0 0 TTN 7273 broad.mit.edu 37 2 179403524 179403524 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:179403524G>A uc010zfg.1 - 303 91552 c.91328C>T c.(91327-91329)TCC>TTC p.S30443F uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S24138F|TTN_uc010zfi.1_Missense_Mutation_p.S24071F|TTN_uc010zfj.1_Missense_Mutation_p.S23946F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31370 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTATCTTTGGATATTGAAAG 0.383 NA 37 249 0 0 0 0 CCDC141 285025 broad.mit.edu 37 2 179733905 179733905 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:179733905C>G uc002unf.1 - 5 665 c.608G>C c.(607-609)AGA>ACA p.R203T NM_173648 NP_775919 Q6ZP82 CC141_HUMAN coiled-coil domain containing 141 203 Potential. protein binding ovary(7)|pancreas(2)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) ATCCTGGATTCTCTCTTTCTG 0.418 NA 6 254 0 0 0 0 CPS1 1373 broad.mit.edu 37 2 211521293 211521293 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:211521293C>A uc002vee.3 + 30 3735 c.3603C>A c.(3601-3603)GTC>GTA p.V1201V CPS1_uc010fur.2_Silent_p.V1207V|CPS1_uc010fus.2_Silent_p.V750V NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1201 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) ATGCAGGTGTCCACTCGGGAG 0.413 NA 103 57 1.18e-47 1.32e-47 1 0 SMARCAL1 50485 broad.mit.edu 37 2 217279529 217279529 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:217279529G>C uc002vgc.3 + 3 432 c.102G>C c.(100-102)CAG>CAC p.Q34H SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.Q34H|SMARCAL1_uc010fvg.2_Missense_Mutation_p.Q34H NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 34 Potential. chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) AACAGCATCAGAGGACTAGCT 0.522 NA Schimke_Immuno-Osseous_Dysplasia 53 105 0 0 0 0 ZNF142 7701 broad.mit.edu 37 2 219510915 219510915 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:219510915C>T uc002vin.2 - 7 1866 c.1430G>A c.(1429-1431)CGA>CAA p.R477Q ZNF142_uc002vil.2_Missense_Mutation_p.R438Q|ZNF142_uc010fvt.2_Missense_Mutation_p.R314Q|ZNF142_uc002vim.2_Missense_Mutation_p.R314Q NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 477 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGCATGTTTTCGCATGTGCAC 0.512 NA 21 93 0 0 0 0 ZNF142 7701 broad.mit.edu 37 2 219510998 219510998 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:219510998C>T uc002vin.2 - 7 1783 c.1347G>A c.(1345-1347)CTG>CTA p.L449L ZNF142_uc002vil.2_Silent_p.L410L|ZNF142_uc010fvt.2_Silent_p.L286L|ZNF142_uc002vim.2_Silent_p.L286L NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 449 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TGGAGTGGGTCAGCATGTGCT 0.527 NA 22 70 0 0 0 0 COL6A3 1293 broad.mit.edu 37 2 238255176 238255176 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:238255176C>T uc002vwl.2 - 32 7347 c.7062G>A c.(7060-7062)CAG>CAA p.Q2354Q COL6A3_uc002vwo.2_Silent_p.Q2148Q|COL6A3_uc010znj.1_Silent_p.Q1747Q|COL6A3_uc002vwp.1_Silent_p.Q175Q NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 2354 Collagen-like 5.|Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGTCTCCCTTCTGTCCAACTA 0.468 NA 39 34 0 0 0 0 OR6B3 150681 broad.mit.edu 37 2 240985469 240985470 + Missense_Mutation DNP GG GG CT TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:240985469_240985470GG>CT uc010zoe.1 - 1 20_21 c.20_21CC>AG c.(19-21)ACC>AAG p.T7K NM_173351 NP_775486 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TGCCGACCCTGGTGACATTCTC 0.599 NA 29 19 0 0 0 0 SNTA1 6640 broad.mit.edu 37 20 32026798 32026798 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:32026798G>A uc002wzd.1 - 2 617 c.345C>T c.(343-345)TCC>TCT p.S115S SNTA1_uc010zuf.1_Silent_p.S115S NM_003098 NP_003089 Q13424 SNTA1_HUMAN acidic alpha 1 syntrophin 115 PH 1.|PDZ. muscle contraction cell junction|cytoplasm|cytoskeleton|sarcolemma actin binding|calmodulin binding skin(1) 1 TGAAGATCTTGGAAATGAGAA 0.517 NA 15 214 0 0 0 0 EDEM2 55741 broad.mit.edu 37 20 33730263 33730263 + Nonsense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:33730263C>A uc002xbo.2 - 4 377 c.277G>T c.(277-279)GAA>TAA p.E93* EDEM2_uc010zuv.1_Nonsense_Mutation_p.E52*|EDEM2_uc010zus.1_5'UTR|EDEM2_uc002xbq.2_Nonsense_Mutation_p.E56*|EDEM2_uc010zut.1_Nonsense_Mutation_p.E52*|EDEM2_uc002xbp.2_5'UTR|EDEM2_uc002xbn.2_5'UTR|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_5'UTR NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 93 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) CTTTGGAATTCTGAGACATTC 0.448 NA 14 65 2.32e-09 2.48e-09 1 0 PHF20 51230 broad.mit.edu 37 20 34526853 34526853 + Silent SNP C C T rs17347322 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:34526853C>T uc002xek.1 + 16 2646 c.2535C>T c.(2533-2535)CGC>CGT p.R845R NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 845 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) AGAAGCCCCGCGCCTATTACC 0.632 NA 4 73 0 0 0 0 NDRG3 57446 broad.mit.edu 37 20 35299789 35299789 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:35299789C>G uc002xfw.2 - 9 625 c.543G>C c.(541-543)CTG>CTC p.L181L NDRG3_uc002xfx.2_Silent_p.L169L|NDRG3_uc010zvq.1_Silent_p.L86L|NDRG3_uc010zvr.1_Silent_p.L69L NM_032013 NP_114402 Q9UGV2 NDRG3_HUMAN N-myc downstream regulated gene 3 isoform a 181 cell differentiation|negative regulation of cell growth|spermatogenesis cytoplasm ovary(1) 1 Myeloproliferative disorder(115;0.00878) CATTGGTTGTCAGGCCAGAGA 0.289 NA 35 56 0 0 0 0 SLC32A1 140679 broad.mit.edu 37 20 37356988 37356988 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:37356988G>A uc002xjc.2 + 2 1547 c.1284G>A c.(1282-1284)CTG>CTA p.L428L NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 428 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) ACGGGCGCCTGAAGTCCTGGG 0.652 NA 13 40 0 0 0 0 PPP1R16B 26051 broad.mit.edu 37 20 37535627 37535627 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:37535627G>T uc002xje.2 + 8 1017 c.828G>T c.(826-828)CAG>CAT p.Q276H PPP1R16B_uc010ggc.2_Missense_Mutation_p.Q234H NM_015568 NP_056383 Q96T49 PP16B_HUMAN protein phosphatase 1 regulatory inhibitor 276 ANK 4. regulation of filopodium assembly|signal transduction nucleus|plasma membrane protein phosphatase binding upper_aerodigestive_tract(1)|kidney(1)|skin(1) 3 Myeloproliferative disorder(115;0.00878) TTCAGATGCAGATGGCAGAGC 0.532 NA 17 163 4.63e-17 5.1e-17 1 0 TOP1 7150 broad.mit.edu 37 20 39742733 39742733 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:39742733G>C uc002xjl.2 + 15 1822 c.1576G>C c.(1576-1578)GAG>CAG p.E526Q uc002xjn.1_Intron NM_003286 NP_003277 P11387 TOP1_HUMAN DNA topoisomerase I 526 DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(3)|ovary(2)|central_nervous_system(1)|kidney(1) 7 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) ATATGTGGTAGAGTTTGACTT 0.468 NA T NUP98 AML* 10 157 0 0 0 0 ADNP 23394 broad.mit.edu 37 20 49510939 49510939 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:49510939C>G uc002xvt.1 - 5 657 c.312G>C c.(310-312)AGG>AGC p.R104S ADNP_uc002xvu.1_Missense_Mutation_p.R104S NM_015339 NP_056154 Q9H2P0 ADNP_HUMAN activity-dependent neuroprotector 104 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TAAGGAGAATCCTATTTTCAA 0.408 NA 32 160 0 0 0 0 PRPF6 24148 broad.mit.edu 37 20 62648154 62648154 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr20:62648154G>C uc002yho.2 + 12 1771 c.1603G>C c.(1603-1605)GAG>CAG p.E535Q PRPF6_uc002yhp.2_Missense_Mutation_p.E535Q NM_012469 NP_036601 O94906 PRP6_HUMAN PRP6 pre-mRNA processing factor 6 homolog 535 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity ovary(2) 2 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GATTGGGATTGAGGAGGAAGA 0.542 NA 7 75 0 0 0 0 TPTE 7179 broad.mit.edu 37 21 10959802 10959802 + Splice_Site SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:10959802T>C uc002yip.1 - 8 542 c.174_splice c.e8-1 p.S58_splice TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.S40_splice|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCTAACACACTTTAGCCACCA 0.318 NA 23 91 0 0 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671931 39671931 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:39671931C>T uc002ywv.2 + 4 1050 c.748C>T c.(748-750)CTG>TTG p.L250L KCNJ15_uc002yww.2_Silent_p.L250L|KCNJ15_uc002ywx.2_Silent_p.L250L NM_002243 NP_002234 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel J15 250 Cytoplasmic (By similarity). synaptic transmission integral to plasma membrane inward rectifier potassium channel activity ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 6 CTTCCTCATTCTGCCCATGAC 0.557 NA 35 66 0 0 0 0 COL6A1 1291 broad.mit.edu 37 21 47422131 47422131 + Splice_Site SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:47422131G>C uc002zhu.1 + 32 2169 c.2067_splice c.e32-1 p.E689_splice COL6A1_uc010gqd.1_Splice_Site_p.E20_splice|COL6A1_uc002zhv.1_Splice_Site_p.E20_splice|COL6A1_uc002zhw.1_5'Flank NM_001848 NP_001839 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 precursor axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding ovary(1) 1 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TTGCTATGCAGAGCCATCAAG 0.711 NA 2 13 0 0 0 0 LSS 4047 broad.mit.edu 37 21 47636350 47636350 + Missense_Mutation SNP C C T rs150614553 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr21:47636350C>T uc002zij.2 - 7 815 c.736G>A c.(736-738)GTT>ATT p.V246I LSS_uc011afv.1_Missense_Mutation_p.V235I|LSS_uc002zil.2_Missense_Mutation_p.V246I|LSS_uc002zik.2_Missense_Mutation_p.V166I NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 246 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) CTCAGCCGAACGGCGTAGCAG 0.652 NA 34 48 0 0 0 0 SMARCB1 6598 broad.mit.edu 37 22 24135750 24135750 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:24135750C>A uc002zyb.2 + 3 444 c.237C>A c.(235-237)CAC>CAA p.H79Q SMARCB1_uc002zyg.2_Missense_Mutation_p.H79Q|SMARCB1_uc011ajb.1_Missense_Mutation_p.H70Q|SMARCB1_uc002zya.2_Missense_Mutation_p.H79Q|SMARCB1_uc002zyc.2_Missense_Mutation_p.H70Q|SMARCB1_uc002zyd.2_Missense_Mutation_p.H70Q|SMARCB1_uc002zye.1_Missense_Mutation_p.H42Q|SMARCB1_uc002zyf.1_RNA|SMARCB1_uc010gue.1_Intron NM_003073 NP_003064 Q12824 SNF5_HUMAN SWI/SNF related, matrix associated, actin 79 cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex p53 binding p.?(2) soft_tissue(193)|central_nervous_system(172)|haematopoietic_and_lymphoid_tissue(23)|meninges(5)|skin(5)|bone(4)|ovary(2)|endometrium(1)|lung(1)|pancreas(1) 407 Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05) TTACAGATCACGGATACACGA 0.537 NA D|N|F|S malignant rhabdoid malignant rhabdoid Rhabdoid_Predisposition_syndrome|Schwannomatosis 95 178 1.3e-36 1.46e-36 1 0 CABIN1 23523 broad.mit.edu 37 22 24439409 24439409 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:24439409T>C uc002zzi.1 + 6 516 c.389T>C c.(388-390)ATT>ACT p.I130T CABIN1_uc002zzj.1_Missense_Mutation_p.I130T|CABIN1_uc002zzl.1_Missense_Mutation_p.I130T|CABIN1_uc010guk.1_Missense_Mutation_p.I85T|CABIN1_uc002zzk.1_Missense_Mutation_p.I85T NM_012295 NP_036427 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 130 TPR 3. cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 TGGTATAAGATTGGACATGTG 0.478 NA 43 111 0 0 0 0 SUSD2 56241 broad.mit.edu 37 22 24580746 24580746 + Nonsense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:24580746C>G uc002zzn.1 + 5 664 c.620C>G c.(619-621)TCA>TGA p.S207* NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 207 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 ATGCCCTACTCACAGGAGTGG 0.607 NA 11 52 0 0 0 0 TBC1D10A 83874 broad.mit.edu 37 22 30689980 30689980 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:30689980G>A uc011akt.1 - 7 849 c.825C>T c.(823-825)TTC>TTT p.F275F GATSL3_uc003ahf.2_RNA|GATSL3_uc003ahg.2_RNA|GATSL3_uc003ahh.2_RNA|GATSL3_uc010gvq.2_RNA|GATSL3_uc003ahi.2_Silent_p.F133F|TBC1D10A_uc003ahj.3_Silent_p.F187F|TBC1D10A_uc010gvu.2_Silent_p.F282F|TBC1D10A_uc003ahk.3_Silent_p.F275F NM_031937 NP_114143 Q9BXI6 TB10A_HUMAN TBC1 domain family, member 10A 275 Rab-GAP TBC. intracellular|microvillus guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity ovary(1) 1 AGGCGCACATGAACCATTCTG 0.592 NA 22 152 0 0 0 0 DEPDC5 9681 broad.mit.edu 37 22 32210996 32210996 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:32210996G>C uc003als.2 + 21 1606 c.1464G>C c.(1462-1464)GAG>GAC p.E488D DEPDC5_uc011als.1_Missense_Mutation_p.E488D|DEPDC5_uc011alu.1_Missense_Mutation_p.E488D|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E488D|DEPDC5_uc003alr.1_Missense_Mutation_p.E488D|DEPDC5_uc011alt.1_Missense_Mutation_p.E460D NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 488 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 GAGAGCGAGAGAGTCACAGTC 0.532 NA 5 169 0 0 0 0 DEPDC5 9681 broad.mit.edu 37 22 32215016 32215016 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:32215016G>A uc003als.2 + 22 1817 c.1675G>A c.(1675-1677)GAG>AAG p.E559K DEPDC5_uc011als.1_Missense_Mutation_p.E559K|DEPDC5_uc011alu.1_Missense_Mutation_p.E559K|DEPDC5_uc011alv.1_RNA|DEPDC5_uc003alt.2_Missense_Mutation_p.E559K|DEPDC5_uc003alu.2_5'UTR|DEPDC5_uc003alv.2_RNA|DEPDC5_uc011alt.1_Missense_Mutation_p.E531K NM_014662 NP_055477 O75140 DEPD5_HUMAN DEP domain containing 5 isoform 1 559 intracellular signal transduction ovary(4)|central_nervous_system(3)|pancreas(1) 8 AGATGTCCTGGAGAACATGAT 0.498 NA 5 151 0 0 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50656807 50656807 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr22:50656807G>A uc003bkb.1 - 23 5491 c.4979C>T c.(4978-4980)TCT>TTT p.S1660F TUBGCP6_uc003bka.1_Intron|TUBGCP6_uc010har.1_Missense_Mutation_p.S1652F|TUBGCP6_uc010has.1_RNA NM_020461 NP_065194 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 1660 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding ovary(2)|central_nervous_system(2) 4 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) GAACTGCACAGAGCCGGCCAT 0.657 NA 14 59 0 0 0 0 HDAC11 79885 broad.mit.edu 37 3 13538259 13538259 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:13538259C>T uc003bxy.2 + 4 409 c.276C>T c.(274-276)ATC>ATT p.I92I HDAC11_uc010heb.2_Silent_p.I64I|HDAC11_uc011aux.1_Intron|HDAC11_uc003bxz.2_Silent_p.I64I|HDAC11_uc011auy.1_Intron NM_024827 NP_079103 Q96DB2 HDA11_HUMAN histone deacetylase 11 isoform 1 92 Histone deacetylase. regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex|plasma membrane histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding ovary(2) 2 TTGCTACCATCACAGAAATCC 0.572 NA OREG0015411 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 87 0 0 0 0 TOP2B 7155 broad.mit.edu 37 3 25670595 25670595 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:25670595G>A uc011awn.1 - 14 1774 c.1731C>T c.(1729-1731)TTC>TTT p.F577F TOP2B_uc003cdj.2_Silent_p.F572F NM_001068 NP_001059 Q02880 TOP2B_HUMAN DNA topoisomerase II, beta isozyme 577 DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 TGTGATGGATGAAATTAATAA 0.274 NA 43 49 0 0 0 0 KIF15 56992 broad.mit.edu 37 3 44844322 44844322 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:44844322G>C uc003cnx.3 + 14 1675 c.1526G>C c.(1525-1527)AGA>ACA p.R509T KIF15_uc010hiq.2_Missense_Mutation_p.R412T|KIF15_uc003cny.1_Missense_Mutation_p.R144T NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 509 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) CACCACCCCAGAGTTGCAAAG 0.383 NA 18 100 0 0 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077096 45077096 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:45077096G>C uc003cok.3 + 3 385 c.289G>C c.(289-291)GAC>CAC p.D97H CLEC3B_uc003col.2_Missense_Mutation_p.D55H NM_003278 NP_003269 P05452 TETN_HUMAN C-type lectin domain family 3, member B 97 C-type lectin. skeletal system development extracellular space protein binding|sugar binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCAGCGAGGACTGCATCTC 0.632 NA 15 29 0 0 0 0 PTPN23 25930 broad.mit.edu 37 3 47451515 47451515 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:47451515G>A uc003crf.1 + 20 2323 c.2227G>A c.(2227-2229)GAG>AAG p.E743K PTPN23_uc011baw.1_Missense_Mutation_p.E708K|PTPN23_uc011bax.1_Intron|PTPN23_uc011bay.1_Missense_Mutation_p.E613K NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 743 Pro-rich. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGACCCCCCTGAGGAGCTGCG 0.682 NA 9 6 0 0 0 0 P4HTM 54681 broad.mit.edu 37 3 49040007 49040007 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:49040007C>G uc003cvg.2 + 4 1051 c.702C>G c.(700-702)ATC>ATG p.I234M P4HTM_uc003cvh.2_Missense_Mutation_p.I234M|P4HTM_uc010hkm.1_Missense_Mutation_p.I120M NM_177939 NP_808808 Q9NXG6 P4HTM_HUMAN hypoxia-inducible factor prolyl 4-hydroxylase 234 Lumenal (Potential).|EF-hand 2. endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen skin(1)|pancreas(1) 2 Vitamin C(DB00126) ACGCCGCGATCAAGGCTGACC 0.562 NA 53 52 0 0 0 0 APPL1 26060 broad.mit.edu 37 3 57291322 57291322 + Silent SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:57291322A>G uc003dio.2 + 15 1443 c.1296A>G c.(1294-1296)GGA>GGG p.G432G APPL1_uc010hnb.2_Silent_p.G432G|APPL1_uc011bey.1_Silent_p.G415G NM_012096 NP_036228 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH 432 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) GATCCTTAGGATCTGAGTCTA 0.433 NA 70 41 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107491933 107491933 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107491933G>C uc010hpr.2 + 11 1692 c.1365G>C c.(1363-1365)AAG>AAC p.K455N BBX_uc003dwk.3_Missense_Mutation_p.K455N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.K476N|BBX_uc003dwm.3_Missense_Mutation_p.K455N|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 455 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGAAAAAGAAGAAAAGCAAAA 0.388 NA 160 77 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107492069 107492069 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492069G>C uc010hpr.2 + 11 1828 c.1501G>C c.(1501-1503)GAG>CAG p.E501Q BBX_uc003dwk.3_Missense_Mutation_p.E501Q|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.E522Q|BBX_uc003dwm.3_Missense_Mutation_p.E501Q|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 501 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) CTGGGGCATAGAGAAACTTGG 0.473 NA 115 72 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107492081 107492081 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492081G>C uc010hpr.2 + 11 1840 c.1513G>C c.(1513-1515)GAT>CAT p.D505H BBX_uc003dwk.3_Missense_Mutation_p.D505H|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D526H|BBX_uc003dwm.3_Missense_Mutation_p.D505H|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 505 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GAAACTTGGAGATACCCCTCG 0.458 NA 110 69 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107492134 107492134 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492134G>C uc010hpr.2 + 11 1893 c.1566G>C c.(1564-1566)TTG>TTC p.L522F BBX_uc003dwk.3_Missense_Mutation_p.L522F|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.L543F|BBX_uc003dwm.3_Missense_Mutation_p.L522F|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 522 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GAAGCATTTTGGATGCCAAGC 0.468 NA 34 56 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107492169 107492169 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492169G>C uc010hpr.2 + 11 1928 c.1601G>C c.(1600-1602)AGA>ACA p.R534T BBX_uc003dwk.3_Missense_Mutation_p.R534T|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.R555T|BBX_uc003dwm.3_Missense_Mutation_p.R534T|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 534 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GTGAAATCAAGAGAGAAGAAA 0.438 NA 7 51 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107492191 107492191 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492191G>A uc010hpr.2 + 11 1950 c.1623G>A c.(1621-1623)GAG>GAA p.E541E BBX_uc003dwk.3_Silent_p.E541E|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Silent_p.E562E|BBX_uc003dwm.3_Silent_p.E541E|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 541 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) TGTCAAAGGAGAAATCCTCAG 0.433 NA 18 51 0 0 0 0 BBX 56987 broad.mit.edu 37 3 107492201 107492201 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492201G>A uc010hpr.2 + 11 1960 c.1633G>A c.(1633-1635)GAC>AAC p.D545N BBX_uc003dwk.3_Missense_Mutation_p.D545N|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Missense_Mutation_p.D566N|BBX_uc003dwm.3_Missense_Mutation_p.D545N|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 545 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GAAATCCTCAGACACCACCAA 0.428 NA 20 54 0 0 0 0 BOC 91653 broad.mit.edu 37 3 112968688 112968688 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:112968688G>T uc003dzx.2 + 3 660 c.39G>T c.(37-39)AGG>AGT p.R13S BOC_uc010hqi.2_Missense_Mutation_p.R13S|BOC_uc003dzy.2_Missense_Mutation_p.R13S|BOC_uc003dzz.2_Missense_Mutation_p.R13S|BOC_uc003dzw.1_Missense_Mutation_p.R13S|BOC_uc003eaa.1_Missense_Mutation_p.R13S NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 13 cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) GAGGAATGAGGCCTGAGGTCA 0.552 NA 16 126 3.62e-10 3.9e-10 1 0 CCDC52 152185 broad.mit.edu 37 3 113187686 113187686 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:113187686G>C uc003eag.3 - 9 1103 c.812C>G c.(811-813)TCT>TGT p.S271C CCDC52_uc003eaf.3_RNA|CCDC52_uc003eah.1_Missense_Mutation_p.S167C NM_144718 NP_653319 Q8N0Z3 SPICE_HUMAN coiled-coil domain containing 52 271 cell division|mitosis centriole|spindle protein binding 0 AGTCTCAGTAGATTCTTCAGG 0.418 NA 25 162 0 0 0 0 KIAA1407 57577 broad.mit.edu 37 3 113724682 113724682 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:113724682G>A uc003eax.2 - 10 1688 c.1541C>T c.(1540-1542)GCA>GTA p.A514V KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.A492V|KIAA1407_uc011bip.1_Missense_Mutation_p.A501V NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 514 ovary(2) 2 ATTGCCAGGTGCACTCAGAGA 0.542 NA 39 566 0 0 0 0 ZBTB20 26137 broad.mit.edu 37 3 114069347 114069347 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:114069347G>A uc003ebi.2 - 4 1758 c.1578C>T c.(1576-1578)TTC>TTT p.F526F ZBTB20_uc003ebj.2_Silent_p.F453F|ZBTB20_uc010hqp.2_Silent_p.F453F|ZBTB20_uc003ebk.2_Silent_p.F453F|ZBTB20_uc003ebl.2_Silent_p.F453F|ZBTB20_uc003ebm.2_Silent_p.F453F|ZBTB20_uc003ebn.2_Silent_p.F453F|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 526 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GTGGCAGGCTGAAGAGGAAAG 0.642 NA 32 170 0 0 0 0 ZBTB20 26137 broad.mit.edu 37 3 114070078 114070078 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:114070078C>T uc003ebi.2 - 4 1027 c.847G>A c.(847-849)GAA>AAA p.E283K ZBTB20_uc003ebj.2_Missense_Mutation_p.E210K|ZBTB20_uc010hqp.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebk.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebl.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebm.2_Missense_Mutation_p.E210K|ZBTB20_uc003ebn.2_Missense_Mutation_p.E210K|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) CTGGGGTCTTCCATGTGGTGG 0.662 NA 6 208 0 0 0 0 LSAMP 4045 broad.mit.edu 37 3 115561400 115561400 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:115561400C>G uc003ebt.2 - 5 1175 c.675G>C c.(673-675)AAG>AAC p.K225N LSAMP_uc011bis.1_Missense_Mutation_p.K225N NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 225 Ig-like C2-type 3. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CTTCATTGCTCTTGGATTCTG 0.453 NA 19 122 0 0 0 0 GOLGB1 2804 broad.mit.edu 37 3 121395796 121395796 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:121395796C>G uc003eei.3 - 17 9232 c.9106G>C c.(9106-9108)GAC>CAC p.D3036H GOLGB1_uc010hrc.2_Missense_Mutation_p.D3041H|GOLGB1_uc003eej.3_Missense_Mutation_p.D3002H NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 3036 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTTAAGCTGTCATTGAGCTGG 0.423 NA 14 217 0 0 0 0 KALRN 8997 broad.mit.edu 37 3 124376308 124376308 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:124376308G>C uc003ehg.2 + 40 6000 c.5873G>C c.(5872-5874)AGA>ACA p.R1958T KALRN_uc003ehi.2_Missense_Mutation_p.R299T|KALRN_uc003ehk.2_Missense_Mutation_p.R261T|KALRN_uc011bjz.1_Missense_Mutation_p.R50T NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1957 DH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TTCATGAAGAGAATAGAAGAA 0.453 NA 4 129 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130361868 130361868 + Splice_Site SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:130361868G>A uc010htl.2 + 30 5258 c.5227_splice c.e30+1 p.P1743_splice COL6A6_uc003eni.3_Splice_Site_p.V6_splice NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 GACCGCAGTCGTAAGTACCCT 0.393 NA 13 80 0 0 0 0 SOX14 8403 broad.mit.edu 37 3 137484129 137484129 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:137484129C>T uc003erm.1 + 1 551 c.503C>T c.(502-504)TCC>TTC p.S168F NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 168 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 CCCTACGCGTCCACCCTGGGC 0.687 NA 9 11 0 0 0 0 DBR1 51163 broad.mit.edu 37 3 137885942 137885942 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:137885942G>A uc003erv.2 - 5 831 c.695C>T c.(694-696)GCC>GTC p.A232V DBR1_uc003eru.2_Missense_Mutation_p.A181V|DBR1_uc003ert.2_5'Flank NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 232 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 CATCAAGGCGGCAAACTTCAC 0.289 NA 5 230 0 0 0 0 BCHE 590 broad.mit.edu 37 3 165547864 165547864 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:165547864G>C uc003fem.3 - 2 1118 c.958C>G c.(958-960)CCG>GCG p.P320A BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 320 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TCCACGGTCGGACCAAAGTTT 0.373 NA 22 171 0 0 0 0 PLD1 5337 broad.mit.edu 37 3 171431715 171431715 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:171431715C>G uc003fhs.2 - 9 995 c.879G>C c.(877-879)ACG>ACC p.T293T PLD1_uc003fht.2_Silent_p.T293T NM_002662 NP_002653 Q13393 PLD1_HUMAN phospholipase D1 isoform a 293 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity ovary(2)|lung(1) 3 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) TTCCATATTTCGTTTCTGTCT 0.338 NA 215 145 0 0 0 0 NLGN1 22871 broad.mit.edu 37 3 173322762 173322762 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:173322762G>C uc003fio.1 + 3 797 c.374G>C c.(373-375)AGA>ACA p.R125T NLGN1_uc010hww.1_Missense_Mutation_p.R125T|NLGN1_uc003fip.1_Missense_Mutation_p.R125T NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 125 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATTGATGGCAGATTGCCAGAA 0.433 NA 26 542 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 102 64 0 0 0 0 BCL6 604 broad.mit.edu 37 3 187447044 187447044 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:187447044G>A uc003frp.3 - 5 1606 c.1149C>T c.(1147-1149)CTC>CTT p.L383L BCL6_uc011bsf.1_Silent_p.L383L|BCL6_uc010hza.2_Silent_p.L281L|BCL6_uc003frq.1_Silent_p.L383L NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 383 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) TGAGGCTGTTGAGCACGATGA 0.607 NA T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 22 857 0 0 0 0 TFRC 7037 broad.mit.edu 37 3 195782122 195782122 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:195782122C>G uc003fvz.3 - 17 2011 c.1728G>C c.(1726-1728)CTG>CTC p.L576L TFRC_uc003fwa.3_Silent_p.L576L|TFRC_uc010hzy.2_Silent_p.L495L|TFRC_uc011btr.1_Silent_p.L294L NM_003234 NP_003225 P02786 TFR1_HUMAN transferrin receptor 576 Extracellular (Potential).|Ligand-binding. 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) TCCTCTCAATCAGTTCCTTAT 0.468 NA T BCL6 NHL 40 312 0 0 0 0 LMLN 89782 broad.mit.edu 37 3 197712706 197712706 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:197712706G>C uc011buo.1 + 8 896 c.874G>C c.(874-876)GAT>CAT p.D292H LMLN_uc003fyt.2_Missense_Mutation_p.D240H|LMLN_uc010iar.2_Missense_Mutation_p.D292H|LMLN_uc010ias.2_Missense_Mutation_p.D240H|LMLN_uc003fyu.2_Missense_Mutation_p.D52H NM_033029 NP_149018 Q96KR4 LMLN_HUMAN leishmanolysin-like isoform 2 292 cell adhesion|cell division|mitosis|proteolysis cytoplasm|membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.111) CCATGATAAAGATGGAAATCC 0.403 NA 26 278 0 0 0 0 RGS12 6002 broad.mit.edu 37 4 3441262 3441262 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:3441262C>T uc003ggw.2 + 18 5099 c.4195C>T c.(4195-4197)CGG>TGG p.R1399W RGS12_uc003ggz.2_Missense_Mutation_p.R751W|RGS12_uc003gha.2_Missense_Mutation_p.R741W|RGS12_uc010icv.2_Missense_Mutation_p.R598W|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1399 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCGCCCGGGCGGGATGGTGG 0.647 NA 21 32 0 0 0 0 SDAD1 55153 broad.mit.edu 37 4 76886972 76886972 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:76886972A>G uc003hje.3 - 13 1168 c.1049T>C c.(1048-1050)GTA>GCA p.V350A SDAD1_uc003hjf.3_Missense_Mutation_p.V253A|SDAD1_uc011cbr.1_Missense_Mutation_p.V313A NM_018115 NP_060585 Q9NVU7 SDA1_HUMAN SDA1 domain containing 1 350 protein transport|ribosomal large subunit biogenesis nucleolus protein binding ovary(1) 1 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GATCTTGGTTACTTCTGAAAA 0.403 NA 37 108 0 0 0 0 PTPN13 5783 broad.mit.edu 37 4 87705639 87705639 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:87705639G>A uc003hpz.2 + 38 6526 c.6046G>A c.(6046-6048)GAA>AAA p.E2016K PTPN13_uc003hpy.2_Missense_Mutation_p.E2021K|PTPN13_uc003hqa.2_Missense_Mutation_p.E1997K|PTPN13_uc003hqb.2_Missense_Mutation_p.E1825K|PTPN13_uc003hqc.1_Missense_Mutation_p.E382K NM_080683 NP_542414 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 2016 cytoplasm|cytoskeleton|plasma membrane protein binding|protein binding|protein tyrosine phosphatase activity ovary(4)|breast(1)|kidney(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGAAATAAATGAAATATCGTA 0.378 NA 4 37 0 0 0 0 SPATA5 166378 broad.mit.edu 37 4 123855341 123855341 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:123855341G>A uc003iez.3 + 5 668 c.595G>A c.(595-597)GAT>AAT p.D199N SPATA5_uc003iey.2_Missense_Mutation_p.D198N NM_145207 NP_660208 Q8NB90 SPAT5_HUMAN spermatogenesis associated 5 199 cell differentiation|multicellular organismal development|spermatogenesis mitochondrion ATP binding|nucleoside-triphosphatase activity 0 GAAAGGGGCAGATGGCATGAT 0.468 NA 6 124 0 0 0 0 SLC10A7 84068 broad.mit.edu 37 4 147431156 147431156 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:147431156G>T uc010ioz.2 - 3 483 c.229C>A c.(229-231)CAG>AAG p.Q77K SLC10A7_uc003ikr.2_Missense_Mutation_p.Q77K|SLC10A7_uc010ipa.2_Missense_Mutation_p.Q77K|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.Q77K NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 77 Helical; (Potential). integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) GTAAAGATCTGAATAAAAAGA 0.353 NA 29 50 1.31e-18 1.45e-18 1 0 ARFIP1 27236 broad.mit.edu 37 4 153784795 153784795 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:153784795C>T uc003imz.2 + 3 407 c.131C>T c.(130-132)TCA>TTA p.S44L ARFIP1_uc003inb.2_Missense_Mutation_p.S44L|ARFIP1_uc003ina.2_Missense_Mutation_p.S44L|ARFIP1_uc003inc.2_Missense_Mutation_p.S44L|ARFIP1_uc011cij.1_Intron NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 44 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) CTTGGTCTCTCAGAAACCCAA 0.358 NA 12 106 0 0 0 0 DCHS2 54798 broad.mit.edu 37 4 155252756 155252756 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:155252756G>C uc003inw.2 - 10 2344 c.2344C>G c.(2344-2346)CTG>GTG p.L782V DCHS2_uc003inx.2_Intron NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 782 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) tcacagaaCAGAGACTTGAGA 0.239 NA 12 27 0 0 0 0 NPY5R 4889 broad.mit.edu 37 4 164271639 164271639 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:164271639C>T uc003iqn.2 + 4 396 c.214C>T c.(214-216)CAG>TAG p.Q72* NM_006174 NP_006165 Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 72 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane lung(6)|skin(1) 7 all_hematologic(180;0.166) Prostate(90;0.109) AAAGCGTAATCAGAAGACTAC 0.398 NA 84 335 0 0 0 0 SORBS2 8470 broad.mit.edu 37 4 186545444 186545444 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:186545444G>A uc003iyl.2 - 13 1985 c.1127C>T c.(1126-1128)TCT>TTT p.S376F SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.S476F|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.S280F|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.S490F|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 376 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GATTTTGGGAGAGACGGTTTC 0.537 NA 42 77 0 0 0 0 SDHA 6389 broad.mit.edu 37 5 226112 226112 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:226112T>C uc003jao.3 + 5 686 c.571T>C c.(571-573)TGT>CGT p.C191R SDHA_uc003jan.2_Missense_Mutation_p.C191R|SDHA_uc011clv.1_Missense_Mutation_p.C191R|SDHA_uc011clw.1_Missense_Mutation_p.C143R|SDHA_uc003jap.3_Missense_Mutation_p.C191R|SDHA_uc003jaq.3_5'Flank NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 191 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) TCGGTGCTGCTGTGTGGCTGA 0.562 NA Familial_Paragangliomas 23 171 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13864529 13864529 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:13864529G>A uc003jfd.2 - 28 4615 c.4573C>T c.(4573-4575)CTG>TTG p.L1525L NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1525 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TTATATTTCAGAAGAGGTGCC 0.408 NA Kartagener_syndrome 13 176 0 0 0 0 GPBP1 65056 broad.mit.edu 37 5 56531816 56531816 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:56531816G>A uc003jrh.3 + 6 1709 c.435G>A c.(433-435)GAG>GAA p.E145E GPBP1_uc010iwg.2_Silent_p.E145E|GPBP1_uc003jri.3_5'UTR|GPBP1_uc003jrj.3_Silent_p.E152E|GPBP1_uc003jrk.3_Silent_p.E152E|GPBP1_uc003jrl.3_RNA NM_022913 NP_075064 Q86WP2 GPBP1_HUMAN GC-rich promoter binding protein 1 isoform 1 145 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding large_intestine(1)|central_nervous_system(1) 2 Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222) OV - Ovarian serous cystadenocarcinoma(10;7.64e-39) CTGAGTATGAGAGAGAACCAA 0.318 NA 9 136 0 0 0 0 PLK2 10769 broad.mit.edu 37 5 57755707 57755707 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:57755707C>T uc003jrn.2 - 1 207 c.80G>A c.(79-81)GGA>GAA p.G27E PLK2_uc011cql.1_5'Flank NM_006622 NP_006613 Q9NYY3 PLK2_HUMAN polo-like kinase 2 27 positive regulation of I-kappaB kinase/NF-kappaB cascade ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|lung(1)|skin(1) 4 all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;7.03e-37) CGAGTCCGCTCCGCAACCCTT 0.682 NA 4 35 0 0 0 0 ERCC8 1161 broad.mit.edu 37 5 60183269 60183269 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:60183269C>G uc003jsm.3 - 11 1190 c.1120G>C c.(1120-1122)GAG>CAG p.E374Q ERCC8_uc003jsk.2_RNA|ERCC8_uc003jsl.3_Missense_Mutation_p.E316Q|ERCC8_uc011cqp.1_Missense_Mutation_p.E221Q NM_000082 NP_000073 Q13216 ERCC8_HUMAN excision repair cross-complementing rodent 374 positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|response to UV|transcription-coupled nucleotide-excision repair Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction protein binding|protein complex binding 0 Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077) ATATTTACCTCATCATCATCA 0.343 NA Direct_reversal_of_damage|NER 33 96 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256428 63256428 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:63256428G>A uc011cqt.1 - 1 1119 c.1119C>T c.(1117-1119)AGC>AGT p.S373S NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 373 Extracellular (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TGTGGCAGCTGCTCTCGCAGA 0.542 NA 94 167 0 0 0 0 SGTB 54557 broad.mit.edu 37 5 65008794 65008794 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:65008794G>A uc003jud.2 - 3 418 c.198C>T c.(196-198)TTC>TTT p.F66F NM_019072 NP_061945 Q96EQ0 SGTB_HUMAN small glutamine-rich tetratricopeptide repeat 66 binding 0 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487) ATACCTTACAGAAGGAACTGG 0.353 NA 3 116 0 0 0 0 SPZ1 84654 broad.mit.edu 37 5 79616896 79616896 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:79616896G>A uc003kgn.2 + 1 1107 c.862G>A c.(862-864)GGT>AGT p.G288S uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) TAATGGAGTCGGTTTCCAAAC 0.413 NA 51 70 0 0 0 0 SPZ1 84654 broad.mit.edu 37 5 79617264 79617264 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:79617264C>G uc003kgn.2 + 1 1475 c.1230C>G c.(1228-1230)TTC>TTG p.F410L uc011ctk.1_RNA NM_032567 NP_115956 Q9BXG8 SPZ1_HUMAN spermatogenic leucine zipper 1 410 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(1) 1 Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36) ATACCCAGTTCAATATTCATG 0.378 NA 24 86 0 0 0 0 RASGRF2 5924 broad.mit.edu 37 5 80390809 80390809 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:80390809C>G uc003kha.1 + 12 1753 c.1753C>G c.(1753-1755)CAG>GAG p.Q585E RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 585 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TGACATCAGTCAGGTAAGAAA 0.383 NA 14 75 0 0 0 0 DCP2 167227 broad.mit.edu 37 5 112337070 112337070 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:112337070C>G uc003kqh.2 + 6 800 c.602C>G c.(601-603)TCT>TGT p.S201C DCP2_uc011cwa.1_5'UTR|DCP2_uc010jcc.2_Missense_Mutation_p.S107C NM_152624 NP_689837 Q8IU60 DCP2_HUMAN DCP2 decapping enzyme 201 Nudix hydrolase. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|protein binding|RNA binding 0 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) GAGTGGTTCTCTATTGAGAAA 0.333 NA 40 167 0 0 0 0 PCDHA9 9752 broad.mit.edu 37 5 140230180 140230180 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140230180G>A uc003lhu.2 + 1 2824 c.2100G>A c.(2098-2100)CTG>CTA p.L700L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.L700L NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 700 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGTGTACCTGATCATCGCCA 0.662 NA 7 103 0 0 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502348 140502348 + Silent SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140502348A>G uc003lip.1 + 1 768 c.768A>G c.(766-768)CTA>CTG p.L256L NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 256 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) ACAGCCCCCTAGACTCTCCAA 0.448 NA 57 161 0 0 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140868963 140868963 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140868963G>C uc003lla.1 + 1 156 c.156G>C c.(154-156)CTG>CTC p.L52L 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_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc003lkt.1_Intron|PCDHGC3_uc003lkv.1_Intron|PCDHGC3_uc003lkw.1_Intron|PCDHGC4_uc003lky.1_Intron|PCDHGC5_uc011dbc.1_Silent_p.L52L NM_018929 NP_061752 Q9Y5F6 PCDGM_HUMAN protocadherin gamma subfamily C, 5 isoform 1 52 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGGATCTGGGCTTAAAGA 0.582 NA 13 98 0 0 0 0 DIAPH1 1729 broad.mit.edu 37 5 140955833 140955833 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:140955833C>G uc003llb.3 - 14 1566 c.1425G>C c.(1423-1425)GAG>GAC p.E475D DIAPH1_uc003llc.3_Missense_Mutation_p.E466D|DIAPH1_uc010jgc.1_5'Flank NM_005219 NP_005210 O60610 DIAP1_HUMAN diaphanous 1 isoform 1 475 Potential. 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) CTTCAGATTTCTCCACCTTTG 0.363 NA 36 145 0 0 0 0 RGS14 10636 broad.mit.edu 37 5 176795809 176795809 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr5:176795809C>T uc003mgf.2 + 9 1123 c.941C>T c.(940-942)TCC>TTC p.S314F RGS14_uc003mgg.1_Missense_Mutation_p.S161F|RGS14_uc003mgh.2_Missense_Mutation_p.S161F|RGS14_uc003mgi.2_Missense_Mutation_p.S84F|RGS14_uc003mgj.2_5'Flank NM_006480 NP_006471 O43566 RGS14_HUMAN regulator of G-protein signalling 14 314 Necessary for interaction with RABGEF1 (By similarity).|RBD 1. chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity lung(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGCACAGCCTCCTTGGCCCTG 0.592 NA OREG0017086 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 41 0 0 0 0 HIST1H1B 3009 broad.mit.edu 37 6 27834627 27834627 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:27834627C>T uc003njx.2 - 1 733 c.681G>A c.(679-681)TAG>TAA p.*227* NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 227 nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CGCCAGCTTCCTACTTCTTTT 0.517 NA 15 23 0 0 0 0 BAT2 7916 broad.mit.edu 37 6 31597336 31597336 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:31597336G>A uc003nvb.3 + 14 2217 c.1968G>A c.(1966-1968)CTG>CTA p.L656L BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Silent_p.L656L NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 656 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 AGCAGCTCCTGAagcagcagc 0.443 NA 145 239 0 0 0 0 RXRB 6257 broad.mit.edu 37 6 33165572 33165572 + Nonsense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:33165572G>A uc003odb.2 - 4 966 c.787C>T c.(787-789)CAG>TAG p.Q263* RXRB_uc003odc.2_Nonsense_Mutation_p.Q263*|RXRB_uc003odd.2_Nonsense_Mutation_p.Q167*|RXRB_uc011dqr.1_Nonsense_Mutation_p.Q73*|RXRB_uc011dqs.1_Nonsense_Mutation_p.Q146*|RXRB_uc003ode.1_Nonsense_Mutation_p.Q127*|RXRB_uc011dqt.1_Nonsense_Mutation_p.Q263*|RXRB_uc011dqu.1_Nonsense_Mutation_p.Q167* NM_021976 NP_068811 P28702 RXRB_HUMAN retinoid X receptor, beta 263 NR C4-type.|Nuclear receptor. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) AGGCACTTCTGATAGCGGCAG 0.577 NA 6 69 0 0 0 0 SLC26A8 116369 broad.mit.edu 37 6 35980010 35980010 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:35980010C>G uc003olm.2 - 3 439 c.328G>C c.(328-330)GGC>CGC p.G110R SLC26A8_uc003oln.2_Missense_Mutation_p.G110R|SLC26A8_uc003oll.2_Missense_Mutation_p.G110R NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 110 Helical; (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 TCTTCCTTACCTTGGGGAACT 0.418 NA 28 454 0 0 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113511 55113511 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:55113511G>T uc003pcl.2 + 2 613 c.298G>T c.(298-300)GAT>TAT p.D100Y HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzw.1_Missense_Mutation_p.D35Y NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 100 Helical; Name=2; (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTCTCTGGCTGATGTGCTCGT 0.453 NA 32 235 6.01e-18 6.63e-18 1 0 DST 667 broad.mit.edu 37 6 56458614 56458614 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:56458614C>T uc003pdf.2 - 42 6244 c.6216G>A c.(6214-6216)TTG>TTA p.L2072L DST_uc003pcz.3_Silent_p.L1894L|DST_uc011dxj.1_Silent_p.L1923L|DST_uc011dxk.1_Silent_p.L1934L|DST_uc003pcy.3_Silent_p.L1568L|DST_uc010kaa.1_RNA NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 3980 Spectrin 2. 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) TGATGTATCTCAAGTCACCTT 0.438 NA 37 364 0 0 0 0 EEF1A1 1915 broad.mit.edu 37 6 74229717 74229717 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:74229717G>A uc003phi.2 - 1 70 c.33C>T c.(31-33)GTC>GTT p.V11V EEF1A1_uc003phd.2_5'Flank|EEF1A1_uc003phe.2_Silent_p.V11V|EEF1A1_uc003phf.2_Silent_p.V11V|EEF1A1_uc003phg.2_Silent_p.V11V|EEF1A1_uc003phh.2_5'UTR|EEF1A1_uc003phj.2_Silent_p.V11V|EEF1A1_uc003phk.2_Silent_p.V11V|EEF1A1_uc003phl.2_Silent_p.V11V|EEF1A1_uc003phm.1_RNA NM_001402 NP_001393 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 11 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 GTCCAATGACGACAATGTTGA 0.418 NA 15 127 0 0 0 0 GABRR2 2570 broad.mit.edu 37 6 89974233 89974233 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:89974233G>C uc003pnb.2 - 8 1067 c.1059C>G c.(1057-1059)CTC>CTG p.L353L GABRR2_uc011dzx.1_Silent_p.L229L NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 353 Helical; (Potential). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) AGCTGACCCAGAGGTAGATGT 0.592 NA 22 95 0 0 0 0 MDN1 23195 broad.mit.edu 37 6 90494802 90494802 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:90494802G>C uc003pnn.1 - 9 1494 c.1378C>G c.(1378-1380)CAT>GAT p.H460D MDN1_uc003pno.1_5'UTR|MDN1_uc003pnp.1_Missense_Mutation_p.H460D NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 460 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) AAAGTAGCATGACTGTTTAGC 0.378 NA 6 344 0 0 0 0 MAP3K5 4217 broad.mit.edu 37 6 136888996 136888996 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:136888996G>A uc003qhc.2 - 26 3895 c.3534C>T c.(3532-3534)TTC>TTT p.F1178F MAP3K5_uc011edj.1_Silent_p.F425F|MAP3K5_uc011edk.1_Silent_p.F1024F NM_005923 NP_005914 Q99683 M3K5_HUMAN mitogen-activated protein kinase kinase kinase 1178 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) ATGCAAGGCTGAAATGTGGCC 0.373 NA 48 106 0 0 0 0 FNDC1 84624 broad.mit.edu 37 6 159659662 159659662 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:159659662G>A uc010kjv.2 + 13 4345 c.4145G>A c.(4144-4146)CGG>CAG p.R1382Q FNDC1_uc010kjw.1_Missense_Mutation_p.R1267Q NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1382 extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) AATCCTCTTCGGATTAAACTA 0.388 NA 8 20 0 0 0 0 WTAP 9589 broad.mit.edu 37 6 160176375 160176375 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:160176375G>A uc003qsl.2 + 8 1145 c.923G>A c.(922-924)GGG>GAG p.G308E WTAP_uc003qso.2_Missense_Mutation_p.G189E NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 308 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TCTTCTCCAGGGAATGGTAAT 0.507 NA 30 71 0 0 0 0 TCP1 6950 broad.mit.edu 37 6 160200096 160200096 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:160200096G>A uc003qsr.2 - 12 1887 c.1652C>T c.(1651-1653)TCT>TTT p.S551F TCP1_uc003qss.2_Missense_Mutation_p.S396F|TCP1_uc010kjz.2_3'UTR|TCP1_uc003qst.2_Missense_Mutation_p.S327F NM_030752 NP_110379 P17987 TCPA_HUMAN T-complex protein 1 isoform a 551 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AAGGGCTCCAGAGTGAACAGC 0.318 NA 22 90 0 0 0 0 PLG 5340 broad.mit.edu 37 6 161134091 161134092 + Missense_Mutation DNP GG GG AA TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:161134091_161134092GG>AA uc003qtm.3 + 5 544_545 c.481_482GG>AA c.(481-483)GGG>AAG p.G161K NM_000301 NP_000292 P00747 PLMN_HUMAN plasminogen 161 Kringle 1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CGATCCGCAGGGGCCCTGGTGC 0.48 NA 74 154 0 0 0 0 MLLT4 4301 broad.mit.edu 37 6 168276155 168276155 + Nonsense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:168276155C>G uc003qwd.2 + 5 858 c.716C>G c.(715-717)TCA>TGA p.S239* MLLT4_uc003qwb.1_Nonsense_Mutation_p.S239*|MLLT4_uc003qwc.1_Nonsense_Mutation_p.S240* NM_001040001 NP_001035090 P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia 240 adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding ovary(2)|lung(1)|kidney(1)|central_nervous_system(1) 5 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) TTTCGGAGCTCAGATGGGCGG 0.438 NA T MLL AL 53 341 0 0 0 0 SMOC2 64094 broad.mit.edu 37 6 169053734 169053734 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr6:169053734G>A uc003qws.1 + 11 1131 c.1111G>A c.(1111-1113)GAA>AAA p.E371K SMOC2_uc003qwr.1_Missense_Mutation_p.E382K|SMOC2_uc011egu.1_Missense_Mutation_p.E48K NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 371 EF-hand 1.|1 (Potential). signal transduction basement membrane calcium ion binding ovary(1) 1 Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231) OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109) CGGCAAAAAGGAAATCAAACC 0.443 NA 34 103 0 0 0 0 USP42 84132 broad.mit.edu 37 7 6193669 6193669 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:6193669G>C uc011jwo.1 + 15 2607 c.2484G>C c.(2482-2484)GCG>GCC p.A828A USP42_uc011jwp.1_Silent_p.A828A|USP42_uc011jwq.1_Silent_p.A635A|USP42_uc011jwr.1_Silent_p.A673A NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 828 Pro-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAGGCGATGCGAGCCCGTTGT 0.716 NA 9 66 0 0 0 0 HIBADH 11112 broad.mit.edu 37 7 27689115 27689115 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:27689115C>T uc003szf.2 - 2 424 c.229G>A c.(229-231)GAG>AAG p.E77K HIBADH_uc003szg.2_Missense_Mutation_p.E28K|HIBADH_uc003szh.2_Intron|HIBADH_uc003szi.2_Missense_Mutation_p.E28K NM_152740 NP_689953 P31937 3HIDH_HUMAN 3-hydroxyisobutyrate dehydrogenase precursor 77 branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process mitochondrial matrix 3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity ovary(2) 2 GBM - Glioblastoma multiforme(3;0.0368) NADH(DB00157) TCTTGAAACTCTTTGCAGGCA 0.353 NA 26 49 0 0 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378495 31378495 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:31378495G>C uc003tch.2 - 2 741 c.388C>G c.(388-390)CTG>GTG p.L130V NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 130 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 ATTTTGGACAGTTTCTGGGTT 0.483 NA 41 77 0 0 0 0 CAMK2B 816 broad.mit.edu 37 7 44281890 44281890 + Missense_Mutation SNP A A G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:44281890A>G uc003tkq.2 - 10 956 c.746T>C c.(745-747)ATC>ACC p.I249T CAMK2B_uc003tkp.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkx.2_Missense_Mutation_p.I249T|CAMK2B_uc010kyd.2_RNA|CAMK2B_uc003tkr.2_Missense_Mutation_p.I249T|CAMK2B_uc003tks.2_Missense_Mutation_p.I249T|CAMK2B_uc003tku.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkv.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkt.2_Missense_Mutation_p.I249T|CAMK2B_uc003tkw.2_Missense_Mutation_p.I249T|CAMK2B_uc010kyc.2_Missense_Mutation_p.I249T NM_001220 NP_001211 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II 249 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity large_intestine(1)|ovary(1) 2 CATCTGGTTGATGAGGTTTTT 0.627 NA 45 95 0 0 0 0 ZNF273 10793 broad.mit.edu 37 7 64363754 64363754 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:64363754G>A uc003tto.2 + 1 135 c.59G>A c.(58-60)AGA>AAA p.R20K ZNF273_uc003ttl.2_Intron|ZNF273_uc003ttm.1_RNA|ZNF273_uc003ttn.2_5'UTR|ZNF273_uc003ttp.1_Intron NM_021148 NP_066971 Q14593 ZN273_HUMAN zinc finger protein 273 20 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(55;0.0295)|all_lung(88;0.0691) GGTATTGGGAGATCCACAGCT 0.597 NA 49 90 0 0 0 0 ZNF273 10793 broad.mit.edu 37 7 64388515 64388515 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:64388515C>T uc003tto.2 + 4 885 c.809C>T c.(808-810)GCC>GTC p.A270V ZNF273_uc003ttl.2_Missense_Mutation_p.A205V|ZNF273_uc003ttn.2_Missense_Mutation_p.A205V NM_021148 NP_066971 Q14593 ZN273_HUMAN zinc finger protein 273 270 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(55;0.0295)|all_lung(88;0.0691) TGTGGCAAAGCCTTTAACCAG 0.328 NA 35 76 0 0 0 0 GNAI1 2770 broad.mit.edu 37 7 79764544 79764544 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:79764544T>C uc003uhb.1 + 1 405 c.68T>C c.(67-69)CTC>CCC p.L23P GNAI1_uc011kgt.1_5'Flank NM_002069 NP_002060 P63096 GNAI1_HUMAN guanine nucleotide binding protein (G protein), 23 cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody|nucleus G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GACCGCAACCTCCGTGAGGAC 0.522 NA 9 12 0 0 0 0 GNAT3 346562 broad.mit.edu 37 7 80091924 80091924 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:80091924C>G uc011kgu.1 - 6 614 c.614G>C c.(613-615)AGA>ACA p.R205T CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 205 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 TCTCTCAGATCTCTGTCCACC 0.373 NA 5 101 0 0 0 0 ABCB1 5243 broad.mit.edu 37 7 87214929 87214929 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:87214929C>T uc003uiz.1 - 5 603 c.185G>A c.(184-186)GGG>GAG p.G62E ABCB1_uc011khc.1_Missense_Mutation_p.G62E NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 62 ABC transmembrane type-1 1.|Helical; (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) AAGTCCAGCCCCATGGATGAT 0.393 NA 26 58 0 0 0 0 STAG3 10734 broad.mit.edu 37 7 99778218 99778218 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:99778218G>C uc003utx.1 + 2 194 c.39G>C c.(37-39)AAG>AAC p.K13N STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.K13N NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 13 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGATACCAAGAGGGCCTTGT 0.522 NA 135 276 0 0 0 0 MUC17 140453 broad.mit.edu 37 7 100678729 100678729 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:100678729C>G uc003uxp.1 + 3 4085 c.4032C>G c.(4030-4032)GTC>GTG p.V1344V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1344 Extracellular (Potential).|20.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) GTATACCTGTCAACACCACAC 0.458 NA 134 293 0 0 0 0 FBXL13 222235 broad.mit.edu 37 7 102665558 102665558 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:102665558C>G uc003vaq.2 - 6 874 c.447G>C c.(445-447)GAG>GAC p.E149D FBXL13_uc010liq.1_5'UTR|FBXL13_uc010lir.1_Missense_Mutation_p.E149D|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.E149D|FBXL13_uc003vav.2_RNA NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 149 0 ATTTTAGAGTCTCATCTACAA 0.289 NA 6 36 0 0 0 0 MLL5 55904 broad.mit.edu 37 7 104702697 104702697 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:104702697C>T uc003vcm.2 + 4 692 c.158C>T c.(157-159)TCA>TTA p.S53L MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.S53L|MLL5_uc003vcl.2_Missense_Mutation_p.S53L|MLL5_uc010ljc.2_Missense_Mutation_p.S53L NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 53 cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 TCACATCATTCACACAGTTAC 0.398 NA 59 221 0 0 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509918 106509918 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:106509918G>C uc003vdv.3 + 2 1997 c.1912G>C c.(1912-1914)GAA>CAA p.E638Q PIK3CG_uc003vdu.2_Missense_Mutation_p.E638Q|PIK3CG_uc003vdw.2_Missense_Mutation_p.E638Q NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 638 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 CTTCTCAGATGAAAATGTAAG 0.348 NA 3 110 0 0 0 0 ASZ1 136991 broad.mit.edu 37 7 117060270 117060270 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:117060270C>T uc003vjb.2 - 4 450 c.387G>A c.(385-387)TTG>TTA p.L129L ASZ1_uc011kno.1_Silent_p.L129L|ASZ1_uc011knp.1_5'UTR NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 129 ANK 3. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) CTACACACTTCAAGATCTGTT 0.338 NA 18 120 0 0 0 0 CFTR 1080 broad.mit.edu 37 7 117232003 117232003 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:117232003G>A uc003vjd.2 + 14 1914 c.1782G>A c.(1780-1782)CTG>CTA p.L594L CFTR_uc011knq.1_5'UTR NM_000492 NP_000483 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance 594 Cytoplasmic (Potential).|ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding central_nervous_system(2)|skin(2)|ovary(1) 5 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TCTGTAAACTGATGGCTAACA 0.259 NA Cystic_Fibrosis 12 108 0 0 0 0 UBN2 254048 broad.mit.edu 37 7 138969091 138969091 + Nonsense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:138969091C>G uc011kqr.1 + 15 3440 c.3440C>G c.(3439-3441)TCA>TGA p.S1147* NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 1147 Ser-rich. ovary(1)|skin(1) 2 CAGGCCCCCTCAAAGCTAACA 0.473 NA 3 93 0 0 0 0 CUL1 8454 broad.mit.edu 37 7 148485666 148485666 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:148485666G>C uc010lpg.2 + 14 2023 c.1497G>C c.(1495-1497)GAG>GAC p.E499D CUL1_uc003wey.2_Missense_Mutation_p.E499D|CUL1_uc003wez.2_Missense_Mutation_p.E389D|CUL1_uc003wfa.2_Missense_Mutation_p.E160D NM_003592 NP_003583 Q13616 CUL1_HUMAN cullin 1 499 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding lung(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GCGGGTTCGAGTACACCTCTA 0.398 NA 60 120 0 0 0 0 GALNTL5 168391 broad.mit.edu 37 7 151684344 151684344 + Silent SNP G G C rs140077291 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr7:151684344G>C uc003wkp.2 + 5 859 c.636G>C c.(634-636)CTG>CTC p.L212L GALNTL5_uc003wkq.2_Intron|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Silent_p.L101L NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 212 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) GAGCAAGGCTGATTGGAGCTT 0.468 NA 22 69 0 0 0 0 NEIL2 252969 broad.mit.edu 37 8 11643525 11643525 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:11643525C>G uc003wug.2 + 5 1417 c.742C>G c.(742-744)CTC>GTC p.L248V NEIL2_uc003wue.2_Missense_Mutation_p.L248V|NEIL2_uc003wuf.2_Missense_Mutation_p.L187V|NEIL2_uc011kxd.1_Missense_Mutation_p.L132V NM_145043 NP_659480 Q969S2 NEIL2_HUMAN nei like 2 isoform a 248 base-excision repair|nucleotide-excision repair nucleus damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding 0 all_epithelial(15;0.103) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.166) TCCCCTTTCTCTCGGTTCAGT 0.552 NA BER_DNA_glycosylases 9 456 0 0 0 0 C8orf79 57604 broad.mit.edu 37 8 12878578 12878578 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:12878578C>T uc010lsq.2 + 5 882 c.390C>T c.(388-390)GTC>GTT p.V130V C8orf79_uc011kxw.1_Intron|C8orf79_uc003wwj.3_Silent_p.V43V|C8orf79_uc010lsr.2_Silent_p.V4V NM_020844 NP_065895 Q9P272 K1456_HUMAN hypothetical protein LOC57604 isoform 1 130 methyltransferase activity 0 TGGCCAGGGTCTTAGTTCCCG 0.418 NA 3 20 0 0 0 0 PCM1 5108 broad.mit.edu 37 8 17817912 17817912 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:17817912G>C uc003wyi.3 + 15 2703 c.2281G>C c.(2281-2283)GAG>CAG p.E761Q PCM1_uc011kyh.1_Missense_Mutation_p.E761Q|PCM1_uc003wyj.3_Missense_Mutation_p.E762Q NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 761 Potential. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) TGACATTCAGGAGAAAATTCA 0.333 NA T RET|JAK2 papillary thyroid|CML|MPD 27 63 0 0 0 0 INTS10 55174 broad.mit.edu 37 8 19709251 19709251 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:19709251C>G uc003wzj.2 + 17 2199 c.2068C>G c.(2068-2070)CTG>GTG p.L690V NM_018142 NP_060612 Q9NVR2 INT10_HUMAN integrator complex subunit 10 690 snRNA processing integrator complex protein binding ovary(1) 1 Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215) TGGAGAGAATCTGATGGTGGT 0.557 NA 18 120 0 0 0 0 FGF17 8822 broad.mit.edu 37 8 21900473 21900473 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:21900473C>G uc003xag.2 + 1 46 c.34C>G c.(34-36)CTG>GTG p.L12V FGF17_uc003xah.2_Missense_Mutation_p.L12V|FGF17_uc003xai.2_5'Flank NM_003867 NP_003858 O60258 FGF17_HUMAN fibroblast growth factor 17 precursor 12 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|nervous system development extracellular space growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding 0 Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618) CAACCTCACTCTGTAAGTGTG 0.657 NA 11 16 0 0 0 0 UNC5D 137970 broad.mit.edu 37 8 35631911 35631911 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:35631911G>T uc003xjr.1 + 16 2901 c.2573G>T c.(2572-2574)AGA>ATA p.R858I UNC5D_uc003xjs.1_Missense_Mutation_p.R853I|UNC5D_uc003xju.1_Missense_Mutation_p.R434I NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 858 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TACTCCATCAGACAGCGGATT 0.473 NA 32 83 1.31e-18 1.45e-18 1 0 CPA6 57094 broad.mit.edu 37 8 68419035 68419035 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:68419035C>T uc003xxq.3 - 6 879 c.623G>A c.(622-624)TGG>TAG p.W208* CPA6_uc003xxr.3_Nonsense_Mutation_p.W60*|CPA6_uc003xxs.2_Nonsense_Mutation_p.W208* NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 208 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TTTTACAAACCACTGACAAAA 0.403 NA 51 69 0 0 0 0 PAG1 55824 broad.mit.edu 37 8 81905367 81905367 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:81905367G>A uc003ybz.2 - 4 807 c.96C>T c.(94-96)TTC>TTT p.F32F NM_018440 NP_060910 Q9NWQ8 PAG1_HUMAN phosphoprotein associated with glycosphingolipid 32 Helical; Signal-anchor for type III membrane protein; (Potential). epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway integral to membrane|intracellular|membrane raft|plasma membrane SH2 domain binding|SH3/SH2 adaptor activity 0 Lung NSC(7;5.76e-06)|all_lung(9;2e-05) BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197) GGAAGATGAGGAAGGTGATGA 0.542 NA 3 56 0 0 0 0 KIAA1429 25962 broad.mit.edu 37 8 95507153 95507153 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:95507153C>T uc003ygo.1 - 20 4589 c.4576G>A c.(4576-4578)GAT>AAT p.D1526N KIAA1429_uc010maz.1_RNA NM_015496 NP_056311 Q69YN4 VIR_HUMAN hypothetical protein LOC25962 isoform 1 1526 mRNA processing|RNA splicing nucleus ovary(1)|skin(1) 2 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCAACTGATCATCCATGACA 0.308 NA 32 359 0 0 0 0 CSMD3 114788 broad.mit.edu 37 8 113358362 113358362 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:113358362C>G uc003ynu.2 - 41 6565 c.6406G>C c.(6406-6408)GAT>CAT p.D2136H CSMD3_uc003yns.2_Missense_Mutation_p.D1338H|CSMD3_uc003ynt.2_Missense_Mutation_p.D2096H|CSMD3_uc011lhx.1_Missense_Mutation_p.D2032H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2136 Extracellular (Potential).|CUB 12. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATGTGCAATCTAAACTGCTG 0.378 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 4 234 0 0 0 0 NAPRT1 93100 broad.mit.edu 37 8 144659478 144659478 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:144659478C>T uc003yym.3 - 4 554 c.529G>A c.(529-531)GAT>AAT p.D177N NAPRT1_uc003yyn.3_Missense_Mutation_p.D177N|NAPRT1_uc011lkh.1_Missense_Mutation_p.D177N|NAPRT1_uc003yyo.3_Missense_Mutation_p.D177N NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 177 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGGCCCCCATCGGGGCCCTGA 0.692 NA 16 4 0 0 0 0 JAK2 3717 broad.mit.edu 37 9 5029862 5029862 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:5029862C>T uc010mhm.2 + 3 419 c.306C>T c.(304-306)TTC>TTT p.F102F JAK2_uc003ziw.2_Silent_p.F102F NM_004972 NP_004963 O60674 JAK2_HUMAN Janus kinase 2 102 Interaction with cytokine/interferon/growth hormone receptors (By similarity).|FERM. actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding PCM1/JAK2(30)|PAX5/JAK2(18)|ETV6/JAK2(11)|BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4) haematopoietic_and_lymphoid_tissue(28629)|lung(5)|breast(5)|ovary(1)|liver(1) 28641 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) ACCATGTCTTCCATATAGATG 0.363 1 T|Mis|O ETV6|PCM1|BCR ALL|AML|MPD| CML Polycythemia_Vera_Familial 24 252 0 0 0 0 C9orf131 138724 broad.mit.edu 37 9 35044713 35044713 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:35044713C>T uc003zvw.2 + 2 2116 c.2087C>T c.(2086-2088)CCA>CTA p.P696L C9orf131_uc003zvu.2_Missense_Mutation_p.P648L|C9orf131_uc003zvv.2_Missense_Mutation_p.P623L|C9orf131_uc003zvx.2_Missense_Mutation_p.P661L NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 696 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) ACTCCTCTACCAGAGCCACAC 0.552 NA 14 84 0 0 0 0 TLN1 7094 broad.mit.edu 37 9 35720452 35720452 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:35720452C>G uc003zxt.2 - 12 1615 c.1261G>C c.(1261-1263)GAG>CAG p.E421Q NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 421 Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) ACTGAGTCCTCCAGCATAGTA 0.488 NA 44 461 0 0 0 0 POLR1E 64425 broad.mit.edu 37 9 37503070 37503070 + Silent SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:37503070G>A uc003zzz.1 + 11 1605 c.1317G>A c.(1315-1317)CTG>CTA p.L439L POLR1E_uc003zzy.1_Silent_p.L377L|POLR1E_uc011lqk.1_Silent_p.L306L|uc004aaa.2_5'Flank NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN RNA polymerase I associated factor 53 439 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding 0 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CCATGAGGCTGAAGATCTCCA 0.542 NA 41 201 0 0 0 0 FLJ46321 389763 broad.mit.edu 37 9 84606906 84606906 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:84606906C>G uc004amn.2 + 4 1568 c.1521C>G c.(1519-1521)CTC>CTG p.L507L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 507 integral to membrane 0 TCTGGGGTCTCCCATCTTTGC 0.438 NA 30 83 0 0 0 0 S1PR3 1903 broad.mit.edu 37 9 91617111 91617111 + Silent SNP C C T rs138808274 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:91617111C>T uc004aqe.2 + 2 1392 c.996C>T c.(994-996)CTC>CTT p.L332L NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 332 Cytoplasmic (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 AGCCTGCGCTCGACCCAAGCA 0.632 NA 6 79 0 0 0 0 HABP4 22927 broad.mit.edu 37 9 99227683 99227683 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:99227683C>T uc010msg.2 + 3 725 c.577C>T c.(577-579)CGC>TGC p.R193C HABP4_uc010msh.2_Intron NM_014282 NP_055097 Q5JVS0 HABP4_HUMAN hyaluronan binding protein 4 193 platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|extracellular region|nucleus protein binding ovary(1) 1 Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214) AGGGGGTATGCGCGGCAGAGG 0.483 NA 6 290 0 0 0 0 TRIM14 9830 broad.mit.edu 37 9 100862396 100862396 + Silent SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:100862396G>C uc004ayd.2 - 3 372 c.354C>G c.(352-354)CTC>CTG p.L118L TRIM14_uc004ayf.1_Silent_p.L25L|TRIM14_uc004ayg.1_Silent_p.L118L|TRIM14_uc004ayh.1_Silent_p.L118L|TRIM14_uc004ayi.1_Silent_p.L118L|TRIM14_uc004ayj.1_Silent_p.L25L NM_033220 NP_150089 Q14142 TRI14_HUMAN tripartite motif protein TRIM14 isoform alpha 118 cytoplasm|intracellular zinc ion binding central_nervous_system(1) 1 Acute lymphoblastic leukemia(62;0.0559) GTAGTAATCTGAGTTCAGTGA 0.373 NA 48 238 0 0 0 0 ANKS6 203286 broad.mit.edu 37 9 101540657 101540657 + Missense_Mutation SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:101540657T>C uc004ayu.2 - 7 1439 c.1418A>G c.(1417-1419)CAG>CGG p.Q473R ANKS6_uc004ayt.2_Missense_Mutation_p.Q172R|ANKS6_uc004ayv.1_5'Flank|ANKS6_uc004ayw.1_Missense_Mutation_p.Q55R|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 473 ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) GGGCAGCGTCTGCATCAGTTT 0.587 NA 31 38 0 0 0 0 SVEP1 79987 broad.mit.edu 37 9 113243615 113243615 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:113243615C>T uc010mtz.2 - 12 2609 c.2272G>A c.(2272-2274)GAT>AAT p.D758N SVEP1_uc010mua.1_Missense_Mutation_p.D758N|SVEP1_uc004beu.2_Missense_Mutation_p.D758N NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 758 Sushi 4. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TCTGTGAAATCATAGCCCTCC 0.413 NA 6 45 0 0 0 0 UGCG 7357 broad.mit.edu 37 9 114695273 114695273 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:114695273T>A uc004bft.2 + 9 1471 c.1181T>A c.(1180-1182)GTA>GAA p.V394E NM_003358 NP_003349 Q16739 CEGT_HUMAN ceramide glucosyltransferase 394 Cytoplasmic (Potential). epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) ATCCTAGATGTATAACTACAG 0.333 NA 33 94 0 0 0 0 TLR4 7099 broad.mit.edu 37 9 120476116 120476116 + Silent SNP T T C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:120476116T>C uc004bjz.2 + 3 2001 c.1710T>C c.(1708-1710)AGT>AGC p.S570S TLR4_uc004bka.2_Silent_p.S530S|TLR4_uc004bkb.2_Silent_p.S370S NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 570 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTCCAAGTAGTCTAGCTTTCT 0.413 NA 73 60 0 0 0 0 LHX6 26468 broad.mit.edu 37 9 124979413 124979413 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:124979413C>G uc010mvw.2 - 4 638 c.529G>C c.(529-531)GAG>CAG p.E177Q LHX6_uc004blx.3_Missense_Mutation_p.E206Q|LHX6_uc004bly.3_Missense_Mutation_p.E206Q NM_014368 NP_055183 Q9UPM6 LHX6_HUMAN LIM homeobox protein 6 isoform 1 177 LIM zinc-binding 2.|Required for interaction with LBD1 (By similarity). cell maturation|cerebral cortex GABAergic interneuron migration|cerebral cortex radially oriented cell migration|cerebral cortex tangential migration nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGCACCTTCTCCTCGACCAGG 0.647 NA 19 108 0 0 0 0 RABGAP1 23637 broad.mit.edu 37 9 125772653 125772653 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:125772653G>C uc011lzh.1 + 11 1529 c.1395G>C c.(1393-1395)AAG>AAC p.K465N RABGAP1_uc004bnl.3_RNA NM_012197 NP_036329 Q9Y3P9 RBGP1_HUMAN RAB GTPase activating protein 1 465 cell cycle centrosome|cytosol|microtubule associated complex Rab GTPase activator activity|tubulin binding ovary(3)|kidney(2) 5 GGGAGAGAAAGAATAATACTG 0.318 NA 33 128 0 0 0 0 ANGPTL2 23452 broad.mit.edu 37 9 129856193 129856193 + Missense_Mutation SNP T T A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:129856193T>A uc004bqr.1 - 3 1330 c.830A>T c.(829-831)GAC>GTC p.D277V RALGPS1_uc004bqo.1_Intron|RALGPS1_uc011mab.1_Intron|RALGPS1_uc011mac.1_Intron|RALGPS1_uc004bqq.3_Intron|ANGPTL2_uc010mxg.1_5'UTR NM_012098 NP_036230 Q9UKU9 ANGL2_HUMAN angiopoietin-like 2 precursor 277 Fibrinogen C-terminal. multicellular organismal development|signal transduction extracellular space receptor binding 0 CTGCAGGCAGTCTCTCCATGG 0.617 NA 38 103 0 0 0 0 LRSAM1 90678 broad.mit.edu 37 9 130253536 130253536 + Missense_Mutation SNP G G C TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:130253536G>C uc004brb.1 + 20 1810 c.1465G>C c.(1465-1467)GAG>CAG p.E489Q LRSAM1_uc010mxk.1_Intron|LRSAM1_uc004brc.1_Missense_Mutation_p.E489Q|LRSAM1_uc004brd.1_Missense_Mutation_p.E489Q|LRSAM1_uc004bre.1_Missense_Mutation_p.E69Q NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 489 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 GACACAGCTGGAGTTAAAGAG 0.483 NA 11 95 0 0 0 0 ZER1 10444 broad.mit.edu 37 9 131515013 131515013 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:131515013C>T uc004bwa.1 - 5 1295 c.862G>A c.(862-864)GGC>AGC p.G288S NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 288 LRR 3. ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 ATCATGTGGCCAGAGATGTCC 0.572 NA 3 78 0 0 0 0 MXRA5 25878 broad.mit.edu 37 X 3228112 3228112 + Missense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:3228112C>A uc004crg.3 - 7 8289 c.8132G>T c.(8131-8133)TGC>TTC p.C2711F NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2711 Ig-like C2-type 11. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTCCATCCTGCATACATAGGT 0.607 NA 36 112 3.11e-16 3.41e-16 1 0 ARHGAP6 395 broad.mit.edu 37 X 11187736 11187736 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:11187736C>G uc004cup.1 - 9 2571 c.1698G>C c.(1696-1698)CAG>CAC p.Q566H ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.Q566H|ARHGAP6_uc004cum.1_Missense_Mutation_p.Q363H|ARHGAP6_uc004cun.1_Missense_Mutation_p.Q386H|ARHGAP6_uc010neb.1_Missense_Mutation_p.Q388H|ARHGAP6_uc011mif.1_Missense_Mutation_p.Q363H NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 566 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CTGATGACTTCTGCTTGTGCA 0.438 NA 29 214 0 0 0 0 GRPR 2925 broad.mit.edu 37 X 16142343 16142343 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:16142343C>T uc004cxj.2 + 1 920 c.267C>T c.(265-267)CTC>CTT p.L89L NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 89 Helical; Name=2; (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) ACCTGCTCCTCCTAATAACGT 0.483 NA OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 349 0 0 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269381 30269381 + Nonsense_Mutation SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:30269381C>A uc004dcc.2 + 4 1091 c.771C>A c.(769-771)TAC>TAA p.Y257* MAGEB1_uc004dcd.2_Nonsense_Mutation_p.Y257*|MAGEB1_uc004dce.2_Nonsense_Mutation_p.Y257* NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 257 MAGE. 0 ATCTGAAGTACGAGCAGGTGC 0.493 NA 35 85 2.42e-17 2.67e-17 1 0 FAM47A 158724 broad.mit.edu 37 X 34148687 34148687 + Missense_Mutation SNP G G A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:34148687G>A uc004ddg.2 - 1 1742 c.1709C>T c.(1708-1710)TCG>TTG p.S570L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 570 ovary(4)|central_nervous_system(1) 5 GGGAGGCTCCGAGAATTGATG 0.522 NA 10 125 0 0 0 0 SLC9A7 84679 broad.mit.edu 37 X 46466624 46466624 + Silent SNP C C A TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:46466624C>A uc004dgu.1 - 17 1949 c.1941G>T c.(1939-1941)CTG>CTT p.L647L NM_032591 NP_115980 Q96T83 SL9A7_HUMAN solute carrier family 9, member 7 647 regulation of pH Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity ovary(2) 2 CTTCCTCTCTCAGTGGCTCTT 0.498 NA 9 78 0.00829132 0.00852692 1 0 GPKOW 27238 broad.mit.edu 37 X 48972603 48972603 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:48972603C>G uc004dmr.2 - 7 995 c.988G>C c.(988-990)GAG>CAG p.E330Q NM_015698 NP_056513 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 330 nucleus nucleic acid binding ovary(2) 2 CGCTTCCTCTCTGAGTTGTCC 0.572 NA 11 126 0 0 0 0 CCNB3 85417 broad.mit.edu 37 X 50089689 50089689 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:50089689C>T uc004dox.3 + 10 3991 c.3693C>T c.(3691-3693)ATC>ATT p.I1231I CCNB3_uc004doy.2_Silent_p.I1231I|CCNB3_uc004doz.2_Silent_p.I127I|CCNB3_uc010njq.2_Silent_p.I123I|CCNB3_uc004dpa.2_Silent_p.I70I NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 1231 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) TTGTGTACATCTGTGATGATA 0.463 NA 21 189 0 0 0 0 BMP15 9210 broad.mit.edu 37 X 50659550 50659551 + Missense_Mutation DNP GA GA TT TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:50659550_50659551GA>TT uc011mnw.1 + 2 1122_1123 c.1122_1123GA>TT c.(1120-1125)GGGAGT>GGTTGT p.S375C NM_005448 NP_005439 O95972 BMP15_HUMAN bone morphogenetic protein 15 precursor 375 female gamete generation|granulosa cell development|ovarian follicle development extracellular space cytokine activity|growth factor activity ovary(2) 2 Ovarian(276;0.236) AGGCAAATGGGAGTATTTTGTA 0.465 NA 61 208 0 0 0 0 FAM120C 54954 broad.mit.edu 37 X 54112314 54112314 + Silent SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54112314C>T uc004dsz.3 - 13 2756 c.2673G>A c.(2671-2673)CAG>CAA p.Q891Q FAM120C_uc011moh.1_Intron NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 891 ovary(1)|central_nervous_system(1) 2 CAAGGATGCTCTGTCTCATCT 0.478 NA 54 74 0 0 0 0 WNK3 65267 broad.mit.edu 37 X 54319739 54319739 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54319739C>G uc004dtd.1 - 9 2154 c.1715G>C c.(1714-1716)GGA>GCA p.G572A WNK3_uc004dtc.1_Missense_Mutation_p.G572A NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 572 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TGATGCAGCTCCTGCCTCAGA 0.393 NA 15 118 0 0 0 0 FGD1 2245 broad.mit.edu 37 X 54476730 54476730 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54476730C>G uc004dtg.2 - 13 2754 c.2020G>C c.(2020-2022)GAG>CAG p.E674Q FGD1_uc011moi.1_Missense_Mutation_p.E432Q NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 674 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 TTCTCCTCCTCAGTCCTTGGG 0.393 NA 15 235 0 0 0 0 PFKFB1 5207 broad.mit.edu 37 X 54971904 54971904 + Missense_Mutation SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:54971904C>G uc004dty.1 - 10 1137 c.1066G>C c.(1066-1068)GAT>CAT p.D356H PFKFB1_uc010nkd.1_Missense_Mutation_p.D164H|PFKFB1_uc011mol.1_Missense_Mutation_p.D291H NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 356 Fructose-2,6-bisphosphatase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 CGATATTTATCTTGGTCTCGC 0.478 NA 5 70 0 0 0 0 BTK 695 broad.mit.edu 37 X 100615599 100615599 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:100615599C>T uc004ehg.2 - 8 926 c.733G>A c.(733-735)GAG>AAG p.E245K BTK_uc004ehf.2_5'Flank|BTK_uc010nnh.2_5'Flank|BTK_uc010nni.2_5'Flank|BTK_uc004ehe.2_5'Flank|BTK_uc010nnj.2_5'Flank|BTK_uc010nnk.2_5'Flank|BTK_uc010nnl.2_5'Flank|BTK_uc010nnm.2_5'Flank|BTK_uc010nnn.2_Missense_Mutation_p.E245K|BTK_uc010nno.2_Missense_Mutation_p.E279K|BTK_uc004ehh.1_5'Flank|BTK_uc004ehi.2_Missense_Mutation_p.E245K NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 245 SH3. calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 TTGCTTTCCTCCAAGATAAAA 0.478 NA Agammaglobulinemia_X-linked 6 180 0 0 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911992 101911992 + Nonsense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:101911992C>T uc004ejj.3 + 5 3952 c.3151C>T c.(3151-3153)CAG>TAG p.Q1051* GPRASP1_uc004eji.3_Nonsense_Mutation_p.Q1051*|GPRASP1_uc010nod.2_Nonsense_Mutation_p.Q1051* NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1051 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 GGTCACTGTTCAGTTCAAGCC 0.532 NA 147 243 0 0 0 0 NRK 203447 broad.mit.edu 37 X 105149322 105149322 + Silent SNP C C G TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:105149322C>G uc004emd.2 + 10 1134 c.831C>G c.(829-831)GTC>GTG p.V277V NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 277 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CTCCCACAGTCAAATCCAGCG 0.373 NA HNSCC(51;0.14) 6 35 0 0 0 0 ACSL4 2182 broad.mit.edu 37 X 108904860 108904860 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:108904860G>T uc004eoi.2 - 15 2225 c.1720C>A c.(1720-1722)CTA>ATA p.L574I ACSL4_uc004eoj.2_Missense_Mutation_p.L533I|ACSL4_uc004eok.2_Missense_Mutation_p.L533I NM_022977 NP_075266 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 574 Cytoplasmic (Potential). fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity large_intestine(1)|lung(1)|ovary(1) 3 Icosapent(DB00159)|Troglitazone(DB00197) AACTTCACTAGATCTTTCTTA 0.358 NA 21 143 1.38e-19 1.53e-19 1 0 ARHGAP4 393 broad.mit.edu 37 X 153178174 153178174 + Missense_Mutation SNP C C T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:153178174C>T uc004fjk.1 - 12 1564 c.1522G>A c.(1522-1524)GAC>AAC p.D508N ARHGAP4_uc004fjj.1_5'Flank|ARHGAP4_uc011mzf.1_Missense_Mutation_p.D485N|ARHGAP4_uc004fjl.1_Missense_Mutation_p.D548N|ARHGAP4_uc010nup.1_RNA NM_001666 NP_001657 P98171 RHG04_HUMAN Rho GTPase activating protein 4 isoform 2 508 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTCTCCATGTCTCCCCCAAAG 0.557 NA 44 360 0 0 0 0 OPN1MW 2652 broad.mit.edu 37 X 153496185 153496185 + Missense_Mutation SNP G G T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:153496185G>T uc004fkd.2 + 5 995 c.913G>T c.(913-915)GCC>TCC p.A305S NM_000513 NP_000504 P04001 OPSG_HUMAN opsin 1 (cone pigments), medium-wave-sensitive 305 Helical; Name=7; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TTTGATGGCTGCCCTGCCGGC 0.552 NA 86 365 1.85e-53 2.07e-53 1 0 PLXNA3 55558 broad.mit.edu 37 X 153689684 153689684 + Silent SNP C C T rs149751983 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chrX:153689684C>T uc004flm.2 + 3 1013 c.840C>T c.(838-840)ATC>ATT p.I280I NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 280 Sema.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AATTCCCCATCGGCTGCTCCT 0.637 NA 27 198 0 0 0 0 FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:59812016_59812017insG uc001czi.3 + 4 623_624 c.411_412insG c.(409-414)GTCGGGfs p.V137fs FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Frame_Shift_Ins_p.V137fs|FGGY_uc001czj.3_Frame_Shift_Ins_p.V137fs|FGGY_uc001czk.3_Frame_Shift_Ins_p.V25fs|FGGY_uc001czl.3_Intron NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137_138 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.5 NA 11 68 --- --- --- --- NA NA NA NA FNDC7 163479 broad.mit.edu 37 1 109275982 109275990 + In_Frame_Del DEL TTACAGCAC TTACAGCAC - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:109275982_109275990delTTACAGCAC uc001dvx.2 + 10 1968_1976 c.1968_1976delTTACAGCAC c.(1966-1977)AATTACAGCACT>AAT p.YST657del FNDC7_uc010ova.1_In_Frame_Del_p.YST424del NM_001144937 NP_001138409 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 658_660 Fibronectin type-III 8. extracellular region ovary(1)|skin(1) 2 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) GCTCTGCCAATTACAGCACTGACCTCTAT 0.531 NA 45 165 --- --- --- --- NA NA NA NA DENND1B 163486 broad.mit.edu 37 1 197480010 197480011 + Frame_Shift_Ins INS - - T TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:197480010_197480011insT uc010ppe.1 - 22 2185_2186 c.1847_1848insA c.(1846-1848)AGTfs p.S616fs DENND1B_uc010ppf.1_RNA NM_001142795 NP_001136267 Q6P3S1 DEN1B_HUMAN DENN/MADD domain containing 1B isoform 1 Error:Variant_position_missing_in_Q6P3S1_after_alignment clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity 0 CATGGAGGGCACTATCGTCTTG 0.455 NA 25 81 --- --- --- --- NA NA NA NA KDM5B 10765 broad.mit.edu 37 1 202742383 202742383 + Frame_Shift_Del DEL A A - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr1:202742383delA uc001gyf.2 - 4 555 c.439delT c.(439-441)TGCfs p.C147fs KDM5B_uc009xag.2_Frame_Shift_Del_p.C147fs|KDM5B_uc001gyg.1_5'UTR NM_006618 NP_006609 Q9UGL1 KDM5B_HUMAN jumonji, AT rich interactive domain 1B 147 ARID. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(2)|breast(2)|urinary_tract(1) 5 CTATCCTTGCAAACAACTGCA 0.388 NA 41 87 --- --- --- --- NA NA NA NA NRIP3 56675 broad.mit.edu 37 11 9009738 9009744 + Frame_Shift_Del DEL TTCGTCT TTCGTCT - rs150007282 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr11:9009738_9009744delTTCGTCT uc001mhg.2 - 2 374_380 c.260_266delAGACGAA c.(259-267)AAGACGAACfs p.K87fs NRIP3_uc010rbu.1_Frame_Shift_Del_p.K87fs NM_020645 NP_065696 Q9NQ35 NRIP3_HUMAN nuclear receptor interacting protein 3 87_89 proteolysis aspartic-type endopeptidase activity 0 Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241) ATTGAGTTTGTTCGTCTTAGAGGCCCA 0.483 NA 57 208 --- --- --- --- NA NA NA NA TFCP2 7024 broad.mit.edu 37 12 51504737 51504739 + In_Frame_Del DEL GAT GAT - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr12:51504737_51504739delGAT uc001rxw.2 - 5 944_946 c.485_487delATC c.(484-489)GATCCT>GCT p.162_163DP>A TFCP2_uc001rxv.1_In_Frame_Del_p.162_163DP>A|TFCP2_uc009zlx.1_In_Frame_Del_p.162_163DP>A|TFCP2_uc001rxx.2_In_Frame_Del_p.162_163DP>A|TFCP2_uc009zly.1_In_Frame_Del_p.64_65DP>A NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 162_163 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTAGCCCTAGGATCGATTATACC 0.409 NA 84 234 --- --- --- --- NA NA NA NA LRPPRC 10128 broad.mit.edu 37 2 44174430 44174430 + Frame_Shift_Del DEL A A - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:44174430delA uc002rtr.2 - 20 2103 c.2045delT c.(2044-2046)CTAfs p.L682fs LRPPRC_uc010yob.1_Frame_Shift_Del_p.L582fs NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 682 PPR 9. mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GAGTTGCTTTAGGACATCTCT 0.299 NA 26 54 --- --- --- --- NA NA NA NA ARHGAP15 55843 broad.mit.edu 37 2 144381721 144381727 + Frame_Shift_Del DEL CGACAGC CGACAGC - rs138120208 TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:144381721_144381727delCGACAGC uc002tvm.3 + 12 1174_1180 c.1023_1029delCGACAGC c.(1021-1029)GACGACAGCfs p.D341fs ARHGAP15_uc002tvn.2_Frame_Shift_Del_p.D107fs NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 341_343 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TGAATTTGGACGACAGCCAGTGGGAGG 0.449 NA 27 47 --- --- --- --- NA NA NA NA HSPD1 3329 broad.mit.edu 37 2 198353732 198353732 + Frame_Shift_Del DEL C C - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr2:198353732delC uc002uui.2 - 9 1346 c.1209delG c.(1207-1209)GTGfs p.V403fs HSPD1_uc002uuj.2_Frame_Shift_Del_p.V401fs|HSPD1_uc010zgx.1_Frame_Shift_Del_p.V394fs|HSPD1_uc010fsm.2_Frame_Shift_Del_p.V214fs|HSPD1_uc002uuk.2_Frame_Shift_Del_p.V403fs NM_002156 NP_002147 P10809 CH60_HUMAN chaperonin 403 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding 0 Epithelial(96;0.225) TTACCTTCAGCACAGCCACTC 0.363 NA 51 133 --- --- --- --- NA NA NA NA BBX 56987 broad.mit.edu 37 3 107492152 107492152 + Frame_Shift_Del DEL G G - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:107492152delG uc010hpr.2 + 11 1911 c.1584delG c.(1582-1584)AAGfs p.K528fs BBX_uc003dwk.3_Frame_Shift_Del_p.K528fs|BBX_uc003dwl.3_Intron|BBX_uc010hps.1_Frame_Shift_Del_p.K549fs|BBX_uc003dwm.3_Frame_Shift_Del_p.K528fs|BBX_uc003dwo.3_5'Flank NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 528 Lys-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) AGCCACCAAAGAAAAAAGTGA 0.448 NA 41 93 --- --- --- --- NA NA NA NA DBR1 51163 broad.mit.edu 37 3 137880741 137880743 + In_Frame_Del DEL TCG TCG - rs150114751 byFrequency TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr3:137880741_137880743delTCG uc003erv.2 - 8 1759_1761 c.1623_1625delCGA c.(1621-1626)GATGAT>GAT p.541_542DD>D DBR1_uc003eru.2_In_Frame_Del_p.490_491DD>D|DBR1_uc003ert.2_In_Frame_Del_p.309_310DD>D NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 541_542 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 TTAAGCTGCATCGTCATCATCAT 0.251 NA 8 440 --- --- --- --- NA NA NA NA CCNG2 901 broad.mit.edu 37 4 78081937 78081939 + In_Frame_Del DEL GAA GAA - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr4:78081937_78081939delGAA uc003hkq.3 + 4 643_645 c.340_342delGAA c.(340-342)GAAdel p.E115del CCNG2_uc003hkn.3_In_Frame_Del_p.E115del|CCNG2_uc011ccc.1_In_Frame_Del_p.E115del|CCNG2_uc003hkp.3_In_Frame_Del_p.E115del NM_004354 NP_004345 Q16589 CCNG2_HUMAN cyclin G2 115 cell cycle checkpoint|cell division|mitosis cytoplasm ovary(2)|lung(1) 3 TAGAATAGTTGAAGAAGACTGCA 0.365 NA 71 183 --- --- --- --- NA NA NA NA CSMD3 114788 broad.mit.edu 37 8 113697953 113697953 + Frame_Shift_Del DEL G G - TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr8:113697953delG uc003ynu.2 - 15 2323 c.2164delC c.(2164-2166)CTGfs p.L722fs CSMD3_uc003yns.2_5'UTR|CSMD3_uc003ynt.2_Frame_Shift_Del_p.L682fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.L618fs NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 722 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 AAGTTAGACAGGCAGGGAACT 0.318 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 108 99 --- --- --- --- NA NA NA NA PRUNE2 158471 broad.mit.edu 37 9 79320938 79320939 + Frame_Shift_Ins INS - - CCAT TCGA-BA-4077-01B-01D-1434-08 TCGA-BA-4077-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9b37211a-2150-4d33-bc6a-9d6a0a429708 cdf04127-a808-4733-919c-377f25f12306 g.chr9:79320938_79320939insCCAT uc010mpk.2 - 8 6375_6376 c.6251_6252insATGG c.(6250-6252)GGTfs p.G2084fs PRUNE2_uc004akj.3_5'Flank|PRUNE2_uc010mpl.1_5'Flank NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2084 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CAGGATTCTCACCATCTGCTTT 0.49 NA 43 269 --- --- --- --- NA NA NA NA