Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample ACAP3 116983 broad.mit.edu 37 1 1233212 1233212 + Missense_Mutation SNP C C G rs146361230 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:1233212C>G uc001aeb.2 - 14 1192 c.1118G>C c.(1117-1119)TGC>TCC p.C373S ACAP3_uc001ady.2_Missense_Mutation_p.C103S|ACAP3_uc001aea.2_Missense_Mutation_p.C331S NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 373 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 CTCGCTATAGCAACTGTCAGG 0.682 NaN 0 0 0 0.013726 0 34 18 SSU72 29101 broad.mit.edu 37 1 1479272 1479272 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:1479272G>A uc001agd.2 - 4 785 c.460C>T c.(460-462)CTC>TTC p.L154F SSU72_uc009vkg.1_Missense_Mutation_p.L154F NM_014188 NP_054907 Q9NP77 SSU72_HUMAN Ssu72 RNA polymerase II CTD phosphatase homolog 154 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity 0 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-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) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) TCACAGATGAGAAACGCCCCC 0.517 NaN 0 0 0 0.003755 0 36 101 MMEL1 79258 broad.mit.edu 37 1 2529730 2529730 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:2529730C>T uc001ajy.2 - 13 1402 c.1188G>A c.(1186-1188)CAG>CAA p.Q396Q MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 396 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CCAGGTAGTTCTGTATGGTCC 0.582 NaN 0 0 0 0.008871 0 20 56 MMEL1 79258 broad.mit.edu 37 1 2530149 2530149 + Silent SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:2530149G>C uc001ajy.2 - 12 1336 c.1122C>G c.(1120-1122)GTC>GTG p.V374V MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 374 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) GGATGCCATAGACCACCACTT 0.517 NaN 0 0 0 0.012319 0 21 72 PINK1 65018 broad.mit.edu 37 1 20972086 20972086 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:20972086G>A uc001bdm.2 + 5 1087 c.993G>A c.(991-993)GTG>GTA p.V331V PINK1_uc001bdn.2_Silent_p.V24V NM_032409 NP_115785 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 precursor 331 Protein kinase.|Cytoplasmic (Potential). cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress cytosol|integral to membrane|mitochondrial outer membrane ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding ovary(2)|central_nervous_system(1) 3 all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) ACCTTTGTGTGAACACACCCA 0.577 NaN 0 0 0 0.003954 0 24 54 ARID1A 8289 broad.mit.edu 37 1 27106421 27106421 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 T G T T Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:27106421T>G uc001bmv.1 + 20 6405 c.6032T>G c.(6031-6033)CTG>CGG p.L2011R ARID1A_uc001bmu.1_Missense_Mutation_p.L1794R|ARID1A_uc001bmx.1_Missense_Mutation_p.L857R|ARID1A_uc009vsm.1_Missense_Mutation_p.L339R|ARID1A_uc009vsn.1_Missense_Mutation_p.L253R NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 2011 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) CTGCTCATCCTGGGCAAGCTG 0.547 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.003755 0 35 77 MAP3K6 9064 broad.mit.edu 37 1 27683085 27683085 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:27683085C>G uc001bny.1 - 25 3769 c.3520G>C c.(3520-3522)GAT>CAT p.D1174H MAP3K6_uc009vsw.1_Missense_Mutation_p.D1166H NM_004672 NP_004663 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 1174 Potential. activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|lung(3)|ovary(1)|central_nervous_system(1) 9 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CTTTACCGATCAGTCTCTGCC 0.647 NaN 0 0 0 0.004482 0 9 53 KIAA1522 57648 broad.mit.edu 37 1 33236326 33236326 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:33236326G>C uc001bvv.2 + 6 1505 c.1369G>C c.(1369-1371)GAT>CAT p.D457H KIAA1522_uc001bvu.1_Missense_Mutation_p.D516H|KIAA1522_uc010ohm.1_Missense_Mutation_p.D468H|KIAA1522_uc010ohn.1_Intron NM_020888 NP_065939 Q9P206 K1522_HUMAN hypothetical protein LOC57648 457 Pro-rich. 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AGCAGTGCCTGATGGGCCATT 0.682 NaN 0 0 0 0.010729 0 12 27 STIL 6491 broad.mit.edu 37 1 47753284 47753284 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:47753284C>T uc001crc.1 - 10 1227 c.1072G>A c.(1072-1074)GAA>AAA p.E358K TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Missense_Mutation_p.E311K|STIL_uc010omo.1_Missense_Mutation_p.E358K|STIL_uc001crd.1_Missense_Mutation_p.E358K|STIL_uc001cre.1_Missense_Mutation_p.E358K|STIL_uc001crg.1_Missense_Mutation_p.E311K NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 358 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTTTGGCTTTCAGCGCTCAGT 0.333 NaN 0 0 0 0.00632 0 25 26 MAGOH 4116 broad.mit.edu 37 1 53699227 53699227 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:53699227C>T uc001cvf.1 - 3 333 c.245G>A c.(244-246)CGA>CAA p.R82Q MAGOH_uc010ont.1_Intron NM_002370 NP_002361 P61326 MGN_HUMAN mago-nashi homolog 82 mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck protein binding|RNA binding 0 CCGGCCCACTCGGTCAGGAGG 0.453 NaN 0 0 0 0.01441 0 88 85 PTPN22 26191 broad.mit.edu 37 1 114380326 114380326 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:114380326G>A uc001eds.2 - 13 1826 c.1696C>T c.(1696-1698)CTG>TTG p.L566L PTPN22_uc009wgq.2_Silent_p.L511L|PTPN22_uc010owo.1_Silent_p.L322L|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Silent_p.L566L|PTPN22_uc009wgs.2_Silent_p.L439L|PTPN22_uc001edu.2_Silent_p.L566L NM_015967 NP_057051 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 566 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding kidney(2)|lung(1)|skin(1) 4 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTTGGCAACAGAGAAGAAGGA 0.383 NaN 0 0 0 0.01441 0 77 45 HSD3B1 3283 broad.mit.edu 37 1 120056930 120056930 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:120056930C>T uc001ehv.1 + 4 929 c.784C>T c.(784-786)CAC>TAC p.H262Y HSD3B1_uc001ehw.2_Missense_Mutation_p.H264Y NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 262 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TGACACGCCTCACCAAAGCTA 0.522 NaN 0 0 0 0.01441 0 136 64 TARS2 80222 broad.mit.edu 37 1 150479406 150479406 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:150479406G>A uc001euq.2 + 18 2030 c.2023G>A c.(2023-2025)GAG>AAG p.E675K TARS2_uc001eur.2_Missense_Mutation_p.E593K|TARS2_uc009wlt.2_Missense_Mutation_p.E301K|TARS2_uc009wls.2_Missense_Mutation_p.E545K|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 675 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TGGCCAGAAAGAGCAAAGTAA 0.507 NaN 0 0 0 0.010818 0 29 188 TARS2 80222 broad.mit.edu 37 1 150479442 150479442 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:150479442G>A uc001euq.2 + 18 2066 c.2059G>A c.(2059-2061)GAT>AAT p.D687N TARS2_uc001eur.2_Missense_Mutation_p.D605N|TARS2_uc009wlt.2_Missense_Mutation_p.D313N|TARS2_uc009wls.2_Missense_Mutation_p.D557N|ECM1_uc010pce.1_5'Flank|ECM1_uc010pcf.1_5'Flank|ECM1_uc001eus.2_5'Flank|ECM1_uc001eut.2_5'Flank|ECM1_uc001euu.2_5'Flank|ECM1_uc001euv.2_5'Flank|ECM1_uc009wlu.2_5'Flank NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 687 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) TCGGACTCGAGATAATCGTCG 0.522 NaN 0 0 0 0.012213 0 35 186 CKS1B 1163 broad.mit.edu 37 1 154951211 154951211 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:154951211C>T uc001fgb.2 + 3 302 c.198C>T c.(196-198)ATC>ATT p.I66I CKS1B_uc001fga.2_RNA NM_001826 NP_001817 P61024 CKS1_HUMAN CDC28 protein kinase 1B 66 cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle nucleoplasm cyclin-dependent protein kinase regulator activity|protein binding 0 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AACCTCACATCTTGCTGTTCC 0.458 NaN 0 0 0 0.01441 0 48 3 DCST2 127579 broad.mit.edu 37 1 154995910 154995910 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:154995910G>A uc001fgm.2 - 13 1974 c.1894C>T c.(1894-1896)CGC>TGC p.R632C DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 632 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TCCAGGAGGCGGAAGCAAGTG 0.612 NaN 0 0 0 0.006214 0 8 25 DCST2 127579 broad.mit.edu 37 1 154998788 154998788 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:154998788G>A uc001fgm.2 - 10 1681 c.1601C>T c.(1600-1602)TCC>TTC p.S534F DCST2_uc009wpb.2_RNA NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 534 Cytoplasmic (Potential). integral to membrane ovary(2)|central_nervous_system(1) 3 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTGCTCCCGGGATGGGTAGTA 0.617 NaN 0 0 0 0.009535 0 26 120 CD5L 922 broad.mit.edu 37 1 157803224 157803224 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:157803224C>G uc001frk.3 - 5 940 c.797G>C c.(796-798)GGC>GCC p.G266A NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 266 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) ACAGACAGAGCCCCATACGCC 0.567 NaN 0 0 0 0.01441 0 47 129 ATP1A2 477 broad.mit.edu 37 1 160094202 160094202 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:160094202C>G uc001fvc.2 + 6 744 c.612C>G c.(610-612)ATC>ATG p.I204M ATP1A2_uc001fvb.2_Missense_Mutation_p.I204M|ATP1A2_uc010piz.1_Missense_Mutation_p.I49M NM_000702 NP_000693 P50993 AT1A2_HUMAN Na+/K+ -ATPase alpha 2 subunit proprotein 204 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity central_nervous_system(3)|ovary(2)|skin(2) 7 all_cancers(52;1.11e-16)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246) TCCGGATCATCTCTTCTCATG 0.567 NaN 0 0 0 0.004482 0 9 38 XPR1 9213 broad.mit.edu 37 1 180804041 180804041 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:180804041T>G uc001goi.2 + 10 1358 c.1166T>G c.(1165-1167)GTA>GGA p.V389G XPR1_uc009wxm.2_Missense_Mutation_p.V389G|XPR1_uc009wxn.2_Missense_Mutation_p.V389G NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 389 Helical; (Potential). integral to plasma membrane G-protein coupled receptor activity 0 TTCCATAAGGTAGGCTTTGCT 0.403 NaN 0 0 0 0.00499 0 17 98 PRG4 10216 broad.mit.edu 37 1 186270750 186270750 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:186270750G>A uc001gru.3 + 4 277 c.226G>A c.(226-228)GAG>AAG p.E76K PRG4_uc001grt.3_Missense_Mutation_p.E35K|PRG4_uc009wyl.2_Missense_Mutation_p.E76K|PRG4_uc009wym.2_Missense_Mutation_p.E35K|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 76 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CCGCTGCTTTGAGTCCTTCGA 0.448 NaN 0 0 0 0.01441 0 114 0 PRG4 10216 broad.mit.edu 37 1 186270756 186270756 + Missense_Mutation SNP T T A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:186270756T>A uc001gru.3 + 4 283 c.232T>A c.(232-234)TTC>ATC p.F78I PRG4_uc001grt.3_Missense_Mutation_p.F37I|PRG4_uc009wyl.2_Missense_Mutation_p.F78I|PRG4_uc009wym.2_Missense_Mutation_p.F37I|PRG4_uc010poo.1_RNA NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 78 SMB 2. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CTTTGAGTCCTTCGAGAGAGG 0.463 NaN 0 0 0 0.01441 0 115 0 KCNT2 343450 broad.mit.edu 37 1 196250089 196250089 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:196250089G>A uc001gtd.1 - 25 2871 c.2811C>T c.(2809-2811)ATC>ATT p.I937I KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.I863I|KCNT2_uc001gtf.1_Silent_p.I913I|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Silent_p.I913I|KCNT2_uc001gth.1_Silent_p.I434I NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 937 Cytoplasmic (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 CATAAGTTCTGATCCATAAGT 0.343 NaN 0 0 0 0.01441 0 91 2 ELF3 1999 broad.mit.edu 37 1 201984345 201984345 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:201984345A>G uc001gxg.3 + 8 4202 c.1010A>G c.(1009-1011)TAC>TGC p.Y337C ELF3_uc001gxi.3_Missense_Mutation_p.Y337C|ELF3_uc001gxh.3_Missense_Mutation_p.Y337C NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 337 ETS. RYYY->AAAA: Partially abrogates repressive effect on the KRT4 promoter. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 AGGTACTACTACAAACGGGAG 0.597 NaN 0 0 0 0.01441 0 100 2 AVPR1B 553 broad.mit.edu 37 1 206225298 206225298 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:206225298C>T uc001hds.2 + 1 1016 c.858C>T c.(856-858)ATC>ATT p.I286I NM_000707 NP_000698 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 286 Helical; Name=6; (Potential). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity ovary(2)|large_intestine(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CCTTTGTCATCGTGCTGGCCT 0.572 NaN 0 0 0 0.01441 0 72 54 PCNXL2 80003 broad.mit.edu 37 1 233134081 233134081 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:233134081C>G uc001hvl.2 - 32 5942 c.5707G>C c.(5707-5709)GGC>CGC p.G1903R PCNXL2_uc001hvk.1_Missense_Mutation_p.G555R|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1903 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TCCTGGCTGCCACCACTCGGG 0.637 NaN 0 0 0 0.00333 0 21 45 OR2T4 127074 broad.mit.edu 37 1 248525926 248525926 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:248525926G>A uc001ieh.1 + 1 1044 c.1044G>A c.(1042-1044)GAG>GAA p.E348E NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 348 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AAGCTATGGAGTAGACCATTT 0.403 NaN 0 0 0 0.01441 0 158 6 ITGA8 8516 broad.mit.edu 37 10 15701026 15701026 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:15701026G>A uc001ioc.1 - 10 920 c.920C>T c.(919-921)ACG>ATG p.T307M ITGA8_uc010qcb.1_Missense_Mutation_p.T292M NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 307 Extracellular (Potential).|FG-GAP 4. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CTGAATAAACGTCATATCCGT 0.318 NaN 0 0 0 0.001855 0 12 31 WAC 51322 broad.mit.edu 37 10 28884845 28884845 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:28884845C>G uc001iuf.2 + 7 879 c.794C>G c.(793-795)TCT>TGT p.S265C WAC_uc001iud.2_Missense_Mutation_p.S220C|WAC_uc001iue.2_Intron|WAC_uc009xlb.2_Missense_Mutation_p.S220C|WAC_uc001iug.2_Intron|WAC_uc001iuh.2_Missense_Mutation_p.S220C NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 265 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 ACTGTTCCTTCTAGTCCATTT 0.463 NaN 0 0 0 0.01441 0 49 127 WAC 51322 broad.mit.edu 37 10 28906604 28906604 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:28906604G>C uc001iuf.2 + 13 1850 c.1765G>C c.(1765-1767)GAA>CAA p.E589Q WAC_uc001iud.2_Missense_Mutation_p.E544Q|WAC_uc001iue.2_Missense_Mutation_p.E279Q|WAC_uc001iug.2_Missense_Mutation_p.E486Q|WAC_uc001iuh.2_Missense_Mutation_p.E540Q NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 589 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 ATTACGCGAAGAAGCGCATAA 0.289 NaN 0 0 0 0.001855 0 14 29 WAC 51322 broad.mit.edu 37 10 28906611 28906611 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:28906611A>G uc001iuf.2 + 13 1857 c.1772A>G c.(1771-1773)CAT>CGT p.H591R WAC_uc001iud.2_Missense_Mutation_p.H546R|WAC_uc001iue.2_Missense_Mutation_p.H281R|WAC_uc001iug.2_Missense_Mutation_p.H488R|WAC_uc001iuh.2_Missense_Mutation_p.H542R NM_016628 NP_057712 Q9BTA9 WAC_HUMAN WW domain-containing adapter with a coiled-coil 591 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding large_intestine(1)|ovary(1) 2 GAAGAAGCGCATAACATGGGA 0.299 NaN 0 0 0 0.006122 0 17 29 A1CF 29974 broad.mit.edu 37 10 52601629 52601629 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:52601629C>T uc001jjj.2 - 5 546 c.358G>A c.(358-360)GAA>AAA p.E120K A1CF_uc010qhn.1_Missense_Mutation_p.E128K|A1CF_uc001jji.2_Missense_Mutation_p.E120K|A1CF_uc001jjh.2_Missense_Mutation_p.E128K|A1CF_uc010qho.1_Missense_Mutation_p.E128K|A1CF_uc009xov.2_Missense_Mutation_p.E120K|A1CF_uc001jjk.1_Missense_Mutation_p.E120K NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 120 RRM 1. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TACCTAATTTCATAATTATTA 0.318 NaN 0 0 0 0.004007 0 13 36 ANK3 288 broad.mit.edu 37 10 61830970 61830970 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:61830970C>T uc001jky.2 - 37 9861 c.9669G>A c.(9667-9669)GTG>GTA p.V3223V ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 3223 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 CTGTTTCCTCCACTGTAGTCT 0.473 NaN 0 0 0 0.001168 0 6 202 ANK3 288 broad.mit.edu 37 10 61836204 61836204 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:61836204C>T uc001jky.2 - 37 4627 c.4435G>A c.(4435-4437)GAA>AAA p.E1479K ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1479 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GTACTCCGTTCAACTGTTTCT 0.378 NaN 0 0 0 0.007291 0 30 10 JMJD1C 221037 broad.mit.edu 37 10 64960429 64960429 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:64960429G>A uc001jmn.2 - 11 5383 c.5083C>T c.(5083-5085)CCT>TCT p.P1695S JMJD1C_uc001jml.2_Missense_Mutation_p.P1476S|JMJD1C_uc001jmm.2_Missense_Mutation_p.P1407S|JMJD1C_uc010qiq.1_Missense_Mutation_p.P1513S|JMJD1C_uc009xpi.2_Missense_Mutation_p.P1513S|JMJD1C_uc009xpj.1_Intron|JMJD1C_uc009xpk.1_Intron NM_032776 NP_116165 Q15652 JHD2C_HUMAN jumonji domain containing 1C isoform a 1695 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding ovary(4)|breast(1)|central_nervous_system(1) 6 Prostate(12;0.0119)|all_hematologic(501;0.191) ACTGAACGAGGAATGCCAGCT 0.373 NaN 0 0 0 0.00308 0 8 29 PPRC1 23082 broad.mit.edu 37 10 103906993 103906993 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:103906993C>T uc001kum.2 + 9 4283 c.4244C>T c.(4243-4245)TCA>TTA p.S1415L PPRC1_uc001kun.2_Missense_Mutation_p.S1295L|PPRC1_uc010qqj.1_Intron|PPRC1_uc009xxa.2_Intron NM_015062 NP_055877 Q5VV67 PPRC1_HUMAN peroxisome proliferator-activated receptor 1415 Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.122) Epithelial(162;4.97e-08)|all cancers(201;8.99e-07) GCCAGCCCCTCAAGCCAGGGC 0.612 NaN 0 0 0 0.01441 0 68 35 PDCD11 22984 broad.mit.edu 37 10 105202183 105202183 + Missense_Mutation SNP G G A rs140495953 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:105202183G>A uc001kwy.1 + 32 5008 c.4921G>A c.(4921-4923)GTG>ATG p.V1641M NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 1641 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) GGCCCGTGCCGTGGCTGAGAG 0.587 NaN 0 0 0 0.01441 0 80 43 ACADSB 36 broad.mit.edu 37 10 124813245 124813245 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:124813245G>A uc001lhb.2 + 11 1380 c.1263G>A c.(1261-1263)TTG>TTA p.L421L ACADSB_uc010qub.1_Silent_p.L319L NM_001609 NP_001600 P45954 ACDSB_HUMAN acyl-Coenzyme A dehydrogenase, short/branched 421 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) ACATCCAGTTGAACACCATTG 0.398 NaN 0 0 0 0.005443 0 23 93 CHST15 51363 broad.mit.edu 37 10 125801927 125801927 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:125801927T>G uc001lhl.2 - 3 1436 c.923A>C c.(922-924)TAT>TCT p.Y308S CHST15_uc001lhm.2_Missense_Mutation_p.Y308S|CHST15_uc001lhn.2_Missense_Mutation_p.Y308S|CHST15_uc010que.1_Missense_Mutation_p.Y308S|CHST15_uc001lho.2_Missense_Mutation_p.Y308S NM_015892 NP_056976 Q7LFX5 CHSTF_HUMAN B cell RAG associated protein 308 Lumenal (Potential). hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity ovary(1) 1 TTCCACGGGATAGCGGTCTCG 0.537 NaN 0 0 0 0.005524 0 41 32 FANK1 92565 broad.mit.edu 37 10 127697960 127697960 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr10:127697960G>C uc001ljh.3 + 11 1095 c.991G>C c.(991-993)GAA>CAA p.E331Q FANK1_uc009yan.2_Missense_Mutation_p.E357Q|FANK1_uc001lji.2_3'UTR NM_145235 NP_660278 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 331 cytoplasm|nucleus ovary(1) 1 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) CTCCTTATTAGAAGAAAGGAA 0.413 NaN 0 0 0 0.006122 0 19 51 IGF2 3481 broad.mit.edu 37 11 2154863 2154863 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:2154863G>A uc009yde.2 - 3 293 c.190C>T c.(190-192)CGT>TGT p.R64C IGF2_uc001lvf.2_RNA|IGF2_uc001lvg.2_Missense_Mutation_p.R64C|IGF2_uc009ydf.2_Missense_Mutation_p.R120C|IGF2_uc001lvh.2_Missense_Mutation_p.R64C|INS-IGF2_uc001lvi.2_RNA NM_001007139 NP_001007140 P01344 IGF2_HUMAN insulin-like growth factor 2 isoform 1 64 C. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1) 1 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) ACGATGCCACGGCTGCGACGG 0.662 NaN 0 0 0 0.010729 0 11 35 DNHD1 144132 broad.mit.edu 37 11 6590023 6590023 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:6590023C>G uc001mdw.3 + 39 13354 c.12790C>G c.(12790-12792)CTG>GTG p.L4264V DNHD1_uc001mea.3_Missense_Mutation_p.L533V|DNHD1_uc001meb.2_Missense_Mutation_p.L532V|DNHD1_uc001mec.2_Missense_Mutation_p.L532V|DNHD1_uc010rao.1_Missense_Mutation_p.L522V|DNHD1_uc009yfg.2_5'UTR NM_144666 NP_653267 Q96M86 DNHD1_HUMAN dynein heavy chain domain 1 isoform 1 4264 microtubule-based movement dynein complex microtubule motor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GGCACTACCTCTGCTCCTCCT 0.602 NaN 0 0 0 0.00499 0 17 14 RBMXL2 27288 broad.mit.edu 37 11 7111126 7111126 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:7111126G>A uc001mfc.2 + 1 962 c.775G>A c.(775-777)GAC>AAC p.D259N NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 259 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGGCTACAGCGACCGAGACGG 0.662 NaN 0 0 0 0.014323 0 19 46 PIK3C2A 5286 broad.mit.edu 37 11 17113138 17113138 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:17113138G>A uc001mmq.3 - 30 4774 c.4708C>T c.(4708-4710)CGA>TGA p.R1570* PIK3C2A_uc009ygu.1_Nonsense_Mutation_p.R173*|PIK3C2A_uc010rcw.1_Nonsense_Mutation_p.R1190*|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 1570 C2. cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) GTACCATTTCGGTAAGAGATG 0.388 NaN 0 0 0 0.009718 0 42 33 TCP11L1 55346 broad.mit.edu 37 11 33078731 33078731 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:33078731G>T uc001mud.2 + 4 767 c.367G>T c.(367-369)GAT>TAT p.D123Y TCP11L1_uc009yju.2_5'UTR|TCP11L1_uc010rei.1_Missense_Mutation_p.D123Y|TCP11L1_uc001mue.2_Missense_Mutation_p.D123Y|TCP11L1_uc001muf.1_5'Flank NM_018393 NP_060863 Q9NUJ3 T11L1_HUMAN t-complex 11 (mouse) like 1 123 0 GCTAAGTGAAGATCCCCCAGC 0.433 NaN 1 0 3.94896e-32 0.01441 4.44853e-32 70 181 HIPK3 10114 broad.mit.edu 37 11 33369461 33369461 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:33369461G>A uc001mul.1 + 11 2478 c.2208G>A c.(2206-2208)CAG>CAA p.Q736Q HIPK3_uc001mum.1_Silent_p.Q736Q|HIPK3_uc009yjv.1_Silent_p.Q736Q NM_005734 NP_005725 Q9H422 HIPK3_HUMAN homeodomain interacting protein kinase 3 isoform 736 anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1)|skin(1)|stomach(1)|ovary(1)|pancreas(1) 5 TGACCAATCAGATAACTTTAT 0.438 NaN 0 0 0 0.004878 0 39 90 MTCH2 23788 broad.mit.edu 37 11 47653256 47653256 + Missense_Mutation SNP C C G rs144753500 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:47653256C>G uc010rho.1 - 6 566 c.377G>C c.(376-378)CGA>CCA p.R126P MTCH2_uc001nge.2_5'UTR|MTCH2_uc010rhp.1_Intron NM_014342 NP_055157 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 126 Solcar 2. transport integral to membrane|mitochondrial inner membrane 0 GATCATCTCTCGAGTTGTCTA 0.423 NaN 0 0 0 0.010504 0 22 71 ARAP1 116985 broad.mit.edu 37 11 72423574 72423574 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:72423574C>A uc001osu.2 - 6 976 c.787G>T c.(787-789)GTG>TTG p.V263L ARAP1_uc001osv.2_Missense_Mutation_p.V263L|ARAP1_uc001osr.2_Missense_Mutation_p.V23L|ARAP1_uc001oss.2_Missense_Mutation_p.V18L|ARAP1_uc009yth.2_Missense_Mutation_p.V18L|ARAP1_uc010rre.1_Missense_Mutation_p.V18L NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 263 actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 AGACTGGCCACGCGCACGGCC 0.657 NaN 1 0 3.73298e-82 0.01441 4.3766e-82 138 80 XRRA1 143570 broad.mit.edu 37 11 74641373 74641373 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:74641373G>C uc009yub.2 - 6 704 c.372C>G c.(370-372)ATC>ATG p.I124M XRRA1_uc001ovm.2_RNA|XRRA1_uc001ovo.2_Translation_Start_Site|XRRA1_uc001ovq.3_Missense_Mutation_p.I124M|XRRA1_uc001ovp.3_Translation_Start_Site|XRRA1_uc001ovr.2_Translation_Start_Site NM_182969 NP_892014 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 124 LRR 1. response to X-ray cytoplasm|nucleus central_nervous_system(1) 1 CTGAGGCATTGATATAAATCA 0.393 NaN 0 0 0 0.004672 0 2 5 MOGAT2 80168 broad.mit.edu 37 11 75439964 75439964 + Silent SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:75439964C>G uc010rru.1 + 5 780 c.780C>G c.(778-780)CTC>CTG p.L260L MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.1_Silent_p.L178L NM_025098 NP_079374 Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 260 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity ovary(2) 2 Ovarian(111;0.103) CCCTCCCACTCTTTCATGGCC 0.537 NaN 0 0 0 0.01441 0 82 46 NOX4 50507 broad.mit.edu 37 11 89184974 89184974 + Silent SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:89184974A>G uc001pct.2 - 3 482 c.243T>C c.(241-243)GCT>GCC p.A81A NOX4_uc009yvr.2_Silent_p.A56A|NOX4_uc001pcu.2_Silent_p.A7A|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Silent_p.A81A|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Intron|NOX4_uc009yvp.2_Silent_p.A81A|NOX4_uc010rtv.1_Silent_p.A57A|NOX4_uc009yvq.2_Silent_p.A57A|NOX4_uc009yvs.1_RNA NM_016931 NP_058627 Q9NPH5 NOX4_HUMAN NADPH oxidase 4 isoform a 81 Ferric oxidoreductase.|Helical; (Potential). cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011) CTCGGAGGTAAGCCAAGAGTG 0.408 NaN 0 0 0 0.013537 0 13 90 CASP1 834 broad.mit.edu 37 11 104897665 104897665 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:104897665C>T uc010rve.1 - 8 1037 c.1020G>A c.(1018-1020)TGG>TGA p.W340* CASP1_uc001pig.2_Nonsense_Mutation_p.W247*|CASP1_uc001pik.2_Nonsense_Mutation_p.W303*|CASP1_uc010rvf.1_Nonsense_Mutation_p.W247*|CASP1_uc010rvg.1_Nonsense_Mutation_p.W319*|CASP1_uc010rvh.1_Nonsense_Mutation_p.W199*|CASP1_uc010rvi.1_Nonsense_Mutation_p.W24*|CASP1_uc001pim.3_Nonsense_Mutation_p.W340*|CASP1_uc009yxi.2_Nonsense_Mutation_p.W319*|CASP1_uc010rvj.1_Nonsense_Mutation_p.W340*|CASP1_uc009yxj.2_Nonsense_Mutation_p.W185*|CASP1_uc010rvk.1_3'UTR NM_033292 NP_150634 P29466 CASP1_HUMAN caspase 1 isoform alpha precursor 340 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding ovary(2) 2 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) TGGGATGTCTCCAAGAAACAT 0.403 NaN 0 0 0 0.013114 0 46 29 BCO2 83875 broad.mit.edu 37 11 112050172 112050172 + Missense_Mutation SNP T T C rs112483486 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:112050172T>C uc001pnf.2 + 2 377 c.260T>C c.(259-261)ATT>ACT p.I87T BCO2_uc001pne.1_Intron|BCO2_uc001png.2_Missense_Mutation_p.I87T|BCO2_uc001pnh.2_Missense_Mutation_p.I53T|BCO2_uc010rwt.1_Intron|BCO2_uc009yyn.2_Missense_Mutation_p.I53T|BCO2_uc001pni.2_Missense_Mutation_p.I53T NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 87 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CTACTTCGAATTGGACCTGGG 0.493 NaN 0 0 0 0.009096 0 4 97 SPA17 53340 broad.mit.edu 37 11 124561605 124561605 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:124561605C>A uc001qap.2 + 4 375 c.239C>A c.(238-240)CCT>CAT p.P80H NM_017425 NP_059121 Q15506 SP17_HUMAN sperm autoantigenic protein 17 80 binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis cytoplasm|flagellum|membrane|motile cilium|primary cilium cAMP-dependent protein kinase regulator activity 0 all_hematologic(175;0.215) Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223) CAAGAACCACCTGAGAAAAGT 0.378 NaN 1 0 9.52127e-25 0.01441 1.06297e-24 49 32 SRPR 6734 broad.mit.edu 37 11 126135303 126135303 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr11:126135303C>G uc001qdh.2 - 10 1222 c.1171G>C c.(1171-1173)GAG>CAG p.E391Q SRPR_uc010sbm.1_Missense_Mutation_p.E363Q NM_003139 NP_003130 P08240 SRPR_HUMAN signal recognition particle receptor 391 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding 0 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) ACCAGGGACTCCTGTAGGGCT 0.557 NaN 0 0 0 0.01441 0 49 31 PDE3A 5139 broad.mit.edu 37 12 20786637 20786637 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:20786637C>A uc001reh.1 + 7 1793 c.1771C>A c.(1771-1773)CCA>ACA p.P591T NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 591 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) CTGTGGCAGACCATATTCCCA 0.418 NaN 1 0 2.48551e-13 0.00499 2.66355e-13 18 27 C12orf11 55726 broad.mit.edu 37 12 27068949 27068949 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:27068949C>T uc001rhk.3 - 11 1771 c.1234G>A c.(1234-1236)GAC>AAC p.D412N C12orf11_uc001rhj.3_Missense_Mutation_p.D37N|C12orf11_uc010sjk.1_Missense_Mutation_p.D311N NM_018164 NP_060634 Q9NVM9 M89BB_HUMAN hypothetical protein LOC55726 412 cell division|mitosis|regulation of mitotic cell cycle protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 Colorectal(261;0.0847) ATCCGGTAGTCTGTAACTCTT 0.299 NaN 0 0 0 0.012213 0 32 29 PTHLH 5744 broad.mit.edu 37 12 28116576 28116576 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:28116576C>G uc001rik.2 - 3 532 c.229G>C c.(229-231)GAG>CAG p.E77Q PTHLH_uc001ril.2_Missense_Mutation_p.E77Q|PTHLH_uc001rim.2_Missense_Mutation_p.E77Q|PTHLH_uc001rin.2_Missense_Mutation_p.E77Q NM_198966 NP_945317 P12272 PTHR_HUMAN parathyroid hormone-like hormone isoform 1 77 activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation cytoplasm|extracellular space|nucleus hormone activity|peptide hormone receptor binding breast(1) 1 Lung SC(9;0.184) GGGGACACCTCCGAGGTAGCT 0.507 NaN 0 0 0 0.004289 0 34 299 DENND5B 160518 broad.mit.edu 37 12 31568364 31568364 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:31568364C>T uc001rki.1 - 12 2675 c.2489G>A c.(2488-2490)AGA>AAA p.R830K DENND5B_uc001rkh.1_Missense_Mutation_p.R865K|DENND5B_uc009zjq.1_Intron NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 830 RUN 1. integral to membrane ovary(1)|central_nervous_system(1) 2 AGATTTTCTTCTTTCTGGTCC 0.333 NaN 0 0 0 0.000602 0 4 23 C12orf35 55196 broad.mit.edu 37 12 32140179 32140179 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:32140179G>C uc001rks.2 + 5 5423 c.5009G>C c.(5008-5010)GGA>GCA p.G1670A C12orf35_uc001rkt.2_RNA NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1670 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) ATAGTTTCAGGAATAAAAAGT 0.289 NaN 0 0 0 0.006214 0 10 35 PDZRN4 29951 broad.mit.edu 37 12 41966494 41966494 + Missense_Mutation SNP G G A rs138042494 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:41966494G>A uc010skn.1 + 10 1384 c.1316G>A c.(1315-1317)CGA>CAA p.R439Q PDZRN4_uc001rmq.3_Missense_Mutation_p.R380Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.R378Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.R265Q NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 638 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) TGCAAGATTCGAAATCATGGA 0.453 NaN 0 0 0 0.01441 0 64 32 TUBA1C 84790 broad.mit.edu 37 12 49666750 49666750 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:49666750C>A uc001rtt.1 + 4 1190 c.1090C>A c.(1090-1092)CCT>ACT p.P364T TUBA1C_uc001rts.2_Missense_Mutation_p.P329T|TUBA1C_uc010smh.1_Missense_Mutation_p.P434T|uc010smi.1_5'UTR NM_032704 NP_116093 Q9BQE3 TBA1C_HUMAN tubulin alpha 6 364 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 CACTGTGGTGCCTGGCGGAGA 0.562 NaN 1 0 1.15062e-32 0.01441 1.30009e-32 74 48 PRPH 5630 broad.mit.edu 37 12 49691240 49691240 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:49691240G>C uc001rtu.2 + 6 1172 c.1097G>C c.(1096-1098)CGA>CCA p.R366P NM_006262 NP_006253 P41219 PERI_HUMAN peripherin 366 Coil 2.|Rod. structural molecule activity 0 GAGGAGCTGCGACAGCTAAAA 0.652 NaN OREG0021790 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.010729 0 10 16 AQP2 359 broad.mit.edu 37 12 50344837 50344837 + Missense_Mutation SNP G G T rs144443773 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:50344837G>T uc001rvn.2 + 1 314 c.224G>T c.(223-225)TGC>TTC p.C75F NM_000486 NP_000477 P41181 AQP2_HUMAN aquaporin 2 75 Cytoplasmic (Potential). cellular response to copper ion|cellular response to mercury ion|excretion apical plasma membrane|integral to membrane|transport vesicle membrane glycerol transmembrane transporter activity|water channel activity ovary(2) 2 ACTGTGGCCTGCCTGGTGGGC 0.647 NaN 1 0 3.07112e-06 0.010729 3.18171e-06 11 40 KRT83 3889 broad.mit.edu 37 12 52713085 52713085 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:52713085C>G uc001saf.2 - 2 511 c.448G>C c.(448-450)GAG>CAG p.E150Q NM_002282 NP_002273 P78385 KRT83_HUMAN keratin 83 150 Rod.|Linker 1. epidermis development keratin filament structural molecule activity skin(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TGGCAGCACTCGCGGTTTTGG 0.607 NaN 0 0 0 0.01441 0 111 62 KRT85 3891 broad.mit.edu 37 12 52758102 52758102 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:52758102G>A uc001sag.2 - 3 798 c.678C>T c.(676-678)GTC>GTT p.V226V NM_002283 NP_002274 P78386 KRT85_HUMAN keratin 85 226 Rod.|Coil 1B. epidermis development keratin filament protein binding|structural molecule activity ovary(1) 1 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) TCTTTAGAACGACAAACTCAT 0.572 NaN 0 0 0 0.01441 0 55 42 KRT82 3888 broad.mit.edu 37 12 52788848 52788848 + Missense_Mutation SNP C C T rs140708995 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:52788848C>T uc001sai.1 - 9 1568 c.1453G>A c.(1453-1455)GAG>AAG p.E485K NM_033033 NP_149022 Q9NSB4 KRT82_HUMAN keratin 82 485 Tail. keratin filament protein binding|structural constituent of epidermis ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.193) CCCTGGGGCTCGCAGGGGACA 0.642 NaN 0 0 0 0.009535 0 29 73 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:56478854G>T uc001sjh.2 + 3 503 c.310G>T c.(310-312)GTG>TTG p.V104L ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45L|ERBB3_uc001sjg.2_Missense_Mutation_p.V104L NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 104 Extracellular (Potential). V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(1) lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517 NaN 1 0 1.00155e-58 0.01441 1.16692e-58 94 70 ZC3H10 84872 broad.mit.edu 37 12 56515127 56515127 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:56515127C>T uc001sjp.1 + 3 970 c.781C>T c.(781-783)CTG>TTG p.L261L NM_032786 NP_116175 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 261 Potential. nucleic acid binding|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(18;0.12) GGTCAGCAACCTGCTGGCCAC 0.552 NaN 0 0 0 0.004878 0 36 78 TIMELESS 8914 broad.mit.edu 37 12 56818910 56818910 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:56818910C>T uc001slf.2 - 14 1773 c.1605G>A c.(1603-1605)AAG>AAA p.K535K NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 535 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 Ccttcttcttcttcttccttc 0.418 NaN 0 0 0 0.01441 0 67 36 GLI1 2735 broad.mit.edu 37 12 57864227 57864227 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:57864227C>T uc001snx.2 + 12 1782 c.1704C>T c.(1702-1704)GGC>GGT p.G568G GLI1_uc009zpq.2_Silent_p.G440G NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 568 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) TCCCCCCTGGCTCCCCACCAG 0.622 NaN 0 0 0 0.003954 0 23 100 CDK4 1019 broad.mit.edu 37 12 58143281 58143281 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:58143281G>A uc001spv.2 - 6 866 c.639C>T c.(637-639)CTC>CTT p.L213L CDK4_uc010ssb.1_Silent_p.L93L|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN cyclin-dependent kinase 4 213 Protein kinase. cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding lung(1)|breast(1)|central_nervous_system(1) 3 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) TTCCACAGAAGAGAGGCCTAA 0.408 NaN Mis melanoma Hereditary_Melanoma 0 0 0 0.00245 0 13 39 C12orf66 144577 broad.mit.edu 37 12 64588164 64588164 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:64588164G>A uc001srw.3 - 3 855 c.796C>T c.(796-798)CTT>TTT p.L266F C12orf66_uc009zql.2_Missense_Mutation_p.L213F NM_152440 NP_689653 Q96MD2 CL066_HUMAN hypothetical protein LOC144577 266 ovary(1) 1 AACTTGGCAAGAAGCATGTTT 0.463 NaN 0 0 0 0.01441 0 43 109 C12orf56 115749 broad.mit.edu 37 12 64679744 64679744 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:64679744C>T uc001ssa.3 - 5 730 c.730G>A c.(730-732)GAT>AAT p.D244N uc001srx.2_Intron|C12orf56_uc001sry.2_5'UTR|C12orf56_uc001srz.2_5'UTR NM_001099676 NP_001093146 Q8IXR9 CL056_HUMAN hypothetical protein LOC115749 407 0 GBM - Glioblastoma multiforme(3;0.000582) GBM - Glioblastoma multiforme(28;0.0259) ACCAGCTCATCAACCCTTTGG 0.363 NaN 0 0 0 0.00308 0 8 13 PRKAB1 5564 broad.mit.edu 37 12 120106160 120106160 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:120106160G>A uc009zwu.2 + 2 214 c.111G>A c.(109-111)CTG>CTA p.L37L PRKAB1_uc001txg.2_Silent_p.L37L NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 37 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) CCAAGATCCTGATGGACAGCC 0.647 NaN 0 0 0 0.007291 0 27 15 CIT 11113 broad.mit.edu 37 12 120214582 120214582 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:120214582G>A uc001txi.1 - 14 1783 c.1730C>T c.(1729-1731)TCA>TTA p.S577L CIT_uc001txh.1_Missense_Mutation_p.S111L|CIT_uc001txj.1_Missense_Mutation_p.S577L NM_007174 NP_009105 O14578 CTRO_HUMAN citron 577 Potential. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTTCTTGCTGAGACAAGATC 0.448 NaN 0 0 0 0.01441 0 118 54 TMEM132B 114795 broad.mit.edu 37 12 126138414 126138414 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:126138414G>A uc001uhe.1 + 9 2403 c.2395G>A c.(2395-2397)GGC>AGC p.G799S TMEM132B_uc001uhf.1_Missense_Mutation_p.G311S NM_052907 NP_443139 Q14DG7 T132B_HUMAN transmembrane protein 132B 799 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) GCACCAAGGAGGCAGCAATGA 0.458 NaN 0 0 0 0.010818 0 31 73 RIMBP2 23504 broad.mit.edu 37 12 130923033 130923033 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr12:130923033G>A uc001uil.2 - 9 1646 c.1482C>T c.(1480-1482)ACC>ACT p.T494T RIMBP2_uc001uim.2_Silent_p.T402T|RIMBP2_uc001uin.1_Silent_p.T153T NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 494 Fibronectin type-III 3. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CAGCCTGGACGGTAACATCTT 0.672 NaN 0 0 0 0.00245 0 15 9 SACS 26278 broad.mit.edu 37 13 23929191 23929191 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr13:23929191C>G uc001uon.2 - 8 2149 c.1560G>C c.(1558-1560)AAG>AAC p.K520N SACS_uc001uoo.2_Missense_Mutation_p.K373N|SACS_uc001uop.1_Missense_Mutation_p.K307N|SACS_uc001uoq.1_Missense_Mutation_p.K373N NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 520 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) AATCAGAGCTCTTTTCCATCT 0.453 NaN 0 0 0 0.01441 0 63 112 LAMP1 3916 broad.mit.edu 37 13 113975875 113975875 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr13:113975875C>T uc001vtm.1 + 8 1228 c.947C>T c.(946-948)CCT>CTT p.P316L LAMP1_uc010tka.1_Missense_Mutation_p.P263L NM_005561 NP_005552 P11279 LAMP1_HUMAN lysosomal-associated membrane protein 1 316 Lumenal (Potential).|Second lumenal domain. endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction central_nervous_system(2) 2 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246) GTTGCAGACCCTGCCTTTAAA 0.522 NaN 0 0 0 0.01441 0 90 50 OSGEP 55644 broad.mit.edu 37 14 20916071 20916071 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:20916071C>A uc001vxf.2 - 8 1141 c.785G>T c.(784-786)GGA>GTA p.G262V NM_017807 NP_060277 Q9NPF4 OSGEP_HUMAN O-sialoglycoprotein endopeptidase 262 proteolysis|tRNA processing metal ion binding|metalloendopeptidase activity|protein binding 0 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;1.09e-07)|all cancers(55;1.19e-06) GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196) ACACCCCACTCCTCCCACAAT 0.473 NaN 1 0 5.07675e-46 0.01441 5.84216e-46 103 59 ACIN1 22985 broad.mit.edu 37 14 23548812 23548812 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:23548812C>G uc001wit.3 - 6 2234 c.1906G>C c.(1906-1908)GAG>CAG p.E636Q ACIN1_uc001wis.3_Missense_Mutation_p.E318Q|ACIN1_uc010akg.2_Missense_Mutation_p.E636Q|ACIN1_uc010tnj.1_Missense_Mutation_p.E596Q NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 636 Ser-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GATCTGGACTCTGATGTTGAT 0.488 NaN 0 0 0 0.01441 0 95 106 IRF9 10379 broad.mit.edu 37 14 24631433 24631433 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:24631433G>A uc001wmq.2 + 2 207 c.80G>A c.(79-81)GGA>GAA p.G27E RNF31_uc001wmp.2_RNA|IRF9_uc010alj.2_5'Flank NM_006084 NP_006075 Q00978 IRF9_HUMAN interferon-stimulated transcription factor 3, 27 IRF tryptophan pentad repeat. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00853) CAGTTTCCCGGAGTGTGCTGG 0.577 NaN 0 0 0 0.01441 0 63 76 AKAP6 9472 broad.mit.edu 37 14 33291368 33291368 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:33291368C>T uc001wrq.2 + 13 4519 c.4349C>T c.(4348-4350)ACC>ATC p.T1450I NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1450 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ACCAAACATACCCCTGACTGT 0.373 NaN 0 0 0 0.007291 0 30 28 MAP4K5 11183 broad.mit.edu 37 14 50910669 50910669 + Missense_Mutation SNP T T G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:50910669T>G uc001wya.2 - 19 1745 c.1425A>C c.(1423-1425)AAA>AAC p.K475N MAP4K5_uc001wyb.2_Missense_Mutation_p.K475N|MAP4K5_uc010anv.1_Missense_Mutation_p.K475N|MAP4K5_uc001wyc.1_Missense_Mutation_p.K149N NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase 475 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(1) 1 all_epithelial(31;0.000415)|Breast(41;0.0102) GGAAGTCTCGTTTGTCCTTTT 0.353 NaN 0 0 0 0.001168 0 6 7 TRIP11 9321 broad.mit.edu 37 14 92506013 92506013 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr14:92506013C>G uc001xzy.2 - 1 805 c.17G>C c.(16-18)GGG>GCG p.G6A TRIP11_uc001xzz.3_RNA NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 6 transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) GCCGAGGCCCCCAAGCCAGGA 0.577 NaN T PDGFRB AML 0 0 0 0.009096 0 4 9 ATP10A 57194 broad.mit.edu 37 15 25958905 25958905 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:25958905G>A uc010ayu.2 - 10 2366 c.2260C>T c.(2260-2262)CGG>TGG p.R754W NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 754 Cytoplasmic (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGCGGGTGCCGGATCACCACT 0.607 NaN 0 0 0 0.007291 0 31 65 HERC2 8924 broad.mit.edu 37 15 28375401 28375401 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:28375401A>G uc001zbj.2 - 83 12816 c.12710T>C c.(12709-12711)GTT>GCT p.V4237A NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 4237 RCC1 18. DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) AGGCCTTCGAACATGGTCATC 0.552 NaN 0 0 0 0.01441 0 80 187 CASC5 57082 broad.mit.edu 37 15 40939188 40939188 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:40939188G>A uc010bbs.1 + 18 6249 c.6088G>A c.(6088-6090)GAG>AAG p.E2030K CASC5_uc010bbt.1_Missense_Mutation_p.E2004K NM_170589 NP_733468 Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 isoform 1 2030 Necessary for kinetochore localization and for interaction with NSL1 and DSN1.|Potential. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding breast(3)|central_nervous_system(1)|skin(1) 5 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TATTTAGAATGAGAGGGAGAA 0.303 NaN 0 0 0 0.012319 0 22 27 MAP1A 4130 broad.mit.edu 37 15 43815124 43815124 + Missense_Mutation SNP A A C rs2584715 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43815124A>C uc001zrt.2 + 4 1920 c.1453A>C c.(1453-1455)AAA>CAA p.K485Q NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 485 Lys-rich (basic).|9 X 3 AA repeats of K-K-[DE]. cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TGGAAGAGTCAAAATAGACAG 0.527 NaN 0 0 0 0.00308 0 8 33 MAP1A 4130 broad.mit.edu 37 15 43815610 43815610 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43815610G>A uc001zrt.2 + 4 2406 c.1939G>A c.(1939-1941)GAA>AAA p.E647K NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 647 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AAGTGAACCTGAAGTAAAGGA 0.488 NaN 0 0 0 0.004007 0 15 27 MAP1A 4130 broad.mit.edu 37 15 43815622 43815622 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43815622G>A uc001zrt.2 + 4 2418 c.1951G>A c.(1951-1953)GAT>AAT p.D651N NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 651 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGTAAAGGAGGATGTGATAGA 0.473 NaN 0 0 0 0.004007 0 15 26 MAP1A 4130 broad.mit.edu 37 15 43816951 43816951 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:43816951C>T uc001zrt.2 + 4 3747 c.3280C>T c.(3280-3282)CAG>TAG p.Q1094* NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1094 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GTTGCCAGCACAGGATAAAGC 0.542 NaN 0 0 0 0.001168 0 6 161 DUOXA2 405753 broad.mit.edu 37 15 45408927 45408927 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:45408927G>A uc001zuo.2 + 4 834 c.554G>A c.(553-555)TGG>TAG p.W185* DUOX2_uc010bea.2_5'Flank|DUOX2_uc001zun.2_5'Flank|DUOXA2_uc010beb.2_RNA NM_207581 NP_997464 Q1HG44 DOXA2_HUMAN dual oxidase activator 2 185 Helical; (Potential). protein transport endoplasmic reticulum membrane|integral to membrane 0 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659) GCCACGCTATGGTAAGTGCTG 0.642 NaN 0 0 0 0.010504 0 19 25 LACTB 114294 broad.mit.edu 37 15 63433729 63433729 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:63433729G>A uc002alw.2 + 6 1408 c.1369G>A c.(1369-1371)GAG>AAG p.E457K NM_032857 NP_116246 P83111 LACTB_HUMAN lactamase, beta isoform a 457 mitochondrion hydrolase activity 0 TTGGGATAAAGAGGGTAAATA 0.433 NaN 0 0 0 0.007291 0 30 70 SCAPER 49855 broad.mit.edu 37 15 76958034 76958034 + Nonsense_Mutation SNP T T A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:76958034T>A uc002bby.2 - 20 2664 c.2605A>T c.(2605-2607)AAA>TAA p.K869* SCAPER_uc010bkr.2_Nonsense_Mutation_p.K177*|SCAPER_uc002bbx.2_Nonsense_Mutation_p.K623*|SCAPER_uc002bbz.1_Nonsense_Mutation_p.K740*|SCAPER_uc002bca.1_Nonsense_Mutation_p.K734* NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 868 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 GCTTTTTTTTTATTTTTTTGC 0.348 NaN 0 0 0 0.009096 0 3 2 ZNF710 374655 broad.mit.edu 37 15 90617419 90617419 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:90617419C>T uc002bov.1 + 4 1845 c.1722C>T c.(1720-1722)CCC>CCT p.P574P NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN zinc finger protein 710 574 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) GCAGCAAGCCCTTCAAGTGCC 0.587 NaN 0 0 0 0.01441 0 49 29 FES 2242 broad.mit.edu 37 15 91428341 91428341 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:91428341C>T uc002bpv.2 + 2 162 c.66C>T c.(64-66)GCC>GCT p.A22A FES_uc010uqj.1_Silent_p.A22A|FES_uc010uqk.1_Silent_p.A22A|FES_uc002bpw.2_RNA|FES_uc010bny.2_Silent_p.A22A|FES_uc002bpx.2_Silent_p.A22A|FES_uc002bpy.2_Silent_p.A22A NM_002005 NP_001996 P07332 FES_HUMAN feline sarcoma oncogene isoform 1 22 FCH.|Important for interaction with membranes containing phosphoinositides. axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TGCAGGAGGCCGAGCTTCGTC 0.602 NaN 0 0 0 0.01441 0 78 125 TTC23 64927 broad.mit.edu 37 15 99696485 99696485 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:99696485C>T uc002bur.2 - 11 1542 c.1011G>A c.(1009-1011)CTG>CTA p.L337L TTC23_uc002bus.2_Silent_p.L337L|TTC23_uc002but.2_Silent_p.L337L|TTC23_uc002buu.2_Silent_p.L337L|TTC23_uc002buv.2_Silent_p.L337L|TTC23_uc002bux.2_Silent_p.L337L|TTC23_uc002buw.2_Silent_p.L337L|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Silent_p.L337L|TTC23_uc010bor.2_Silent_p.L337L|TTC23_uc002buz.2_Silent_p.L337L NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 337 binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) GGGACTCTCTCAGGATCGAGG 0.502 NaN 0 0 0 0.01441 0 58 36 PCSK6 5046 broad.mit.edu 37 15 101938609 101938609 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr15:101938609C>T uc002bwy.2 - 8 1310 c.996G>A c.(994-996)AAG>AAA p.K332K PCSK6_uc010bpd.2_Silent_p.K202K|PCSK6_uc010bpe.2_Silent_p.K332K|PCSK6_uc002bxa.2_Silent_p.K332K|PCSK6_uc002bxb.2_Silent_p.K332K|PCSK6_uc002bxc.1_Silent_p.K332K|PCSK6_uc002bxd.1_Silent_p.K332K|PCSK6_uc002bxe.2_Silent_p.K332K|PCSK6_uc002bxg.1_Silent_p.K332K NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 332 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTACTCACACCTTTTTAATGC 0.557 NaN 0 0 0 0.01441 0 57 147 SMG1 23049 broad.mit.edu 37 16 18856889 18856889 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:18856889G>A uc002dfm.2 - 39 6444 c.6081C>T c.(6079-6081)ATC>ATT p.I2027I SMG1_uc010bwb.2_Silent_p.I1887I|SMG1_uc010bwa.2_Silent_p.I758I|SMG1_uc002dfo.3_Silent_p.I325I NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2027 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GAGCCGCTGTGATACTCCTCA 0.433 NaN 0 0 0 0.01441 0 85 54 TNRC6A 27327 broad.mit.edu 37 16 24803020 24803020 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:24803020G>A uc002dmm.2 + 6 3171 c.3057G>A c.(3055-3057)GTG>GTA p.V1019V TNRC6A_uc010bxs.2_Silent_p.V766V|TNRC6A_uc010vcc.1_Silent_p.V766V|TNRC6A_uc002dmn.2_Silent_p.V766V|TNRC6A_uc002dmo.2_Silent_p.V766V NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1019 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) ACAAAAATGTGAACATGTGGA 0.468 NaN 0 0 0 0.010729 0 11 93 TGFB1I1 7041 broad.mit.edu 37 16 31485480 31485480 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:31485480C>A uc002ecd.1 + 5 359 c.333C>A c.(331-333)ATC>ATA p.I111I TGFB1I1_uc002ece.1_Silent_p.I94I|TGFB1I1_uc010caq.1_Intron NM_001042454 NP_001035919 O43294 TGFI1_HUMAN transforming growth factor beta 1 induced 111 Transcription activation (By similarity).|Interaction with PTK2 (By similarity).|Interaction with PTK2B. androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway cytoplasm|cytoskeleton|focal adhesion|nuclear matrix androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding 0 CAGATGAAATCATGTCTCAGT 0.512 NaN 1 0 4.74835e-14 0.010818 5.11782e-14 29 24 AMFR 267 broad.mit.edu 37 16 56436917 56436917 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:56436917C>T uc002eiy.2 - 7 1159 c.954G>A c.(952-954)GTG>GTA p.V318V AMFR_uc002eix.2_Nonsense_Mutation_p.W16* NM_001144 NP_001135 Q9UKV5 AMFR2_HUMAN autocrine motility factor receptor 318 endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction protein binding|protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2) 2 TGTTTCCAACCACACGTAGAT 0.443 NaN 0 0 0 0.01441 0 69 99 CDH8 1006 broad.mit.edu 37 16 61747750 61747750 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:61747750T>C uc002eog.1 - 10 1901 c.1649A>G c.(1648-1650)AAT>AGT p.N550S NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein 550 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) TTTACCTTCATTTTTCTTGAT 0.308 NaN 0 0 0 0.00308 0 8 18 ZCCHC14 23174 broad.mit.edu 37 16 87493735 87493735 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr16:87493735G>A uc002fjz.1 - 2 189 c.162C>T c.(160-162)ATC>ATT p.I54I ZCCHC14_uc002fka.1_RNA NM_015144 NP_055959 Q8WYQ9 ZCH14_HUMAN zinc finger, CCHC domain containing 14 54 cell communication nucleic acid binding|phosphatidylinositol binding|zinc ion binding upper_aerodigestive_tract(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0285) TTCTTGGAGTGATCTGAGGGA 0.443 NaN 0 0 0 0.004482 0 8 153 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Missense_Mutation SNP C C T rs112431538 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:7577085C>T uc002gim.2 - 8 1047 c.853G>A c.(853-855)GAG>AAG p.E285K TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.E285K|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.E153K|TP53_uc010cng.1_Missense_Mutation_p.E153K|TP53_uc002gii.1_Missense_Mutation_p.E153K|TP53_uc010cnh.1_Missense_Mutation_p.E285K|TP53_uc010cni.1_Missense_Mutation_p.E285K|TP53_uc002gij.2_Missense_Mutation_p.E285K NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 285 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> K (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> A (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(95)|p.E285*(16)|p.E285V(13)|p.0?(7)|p.E285Q(4)|p.E285E(3)|p.E285G(3)|p.E285A(2)|p.?(2)|p.R283fs*16(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.E285fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.01441 0 73 2 KIAA0100 9703 broad.mit.edu 37 17 26958634 26958634 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:26958634G>A uc002hbu.2 - 23 4261 c.4162C>T c.(4162-4164)CAG>TAG p.Q1388* NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 1388 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) ACGGTCACCTGACTTAGGTCA 0.527 NaN 0 0 0 0.00333 0 25 83 ATAD5 79915 broad.mit.edu 37 17 29161248 29161248 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:29161248G>C uc002hfs.1 + 2 495 c.149G>C c.(148-150)AGA>ACA p.R50T ATAD5_uc002hft.1_5'UTR NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 50 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) GGGAAGACTAGAGACAGGGTT 0.368 NaN 0 0 0 0.009535 0 31 89 MYO1D 4642 broad.mit.edu 37 17 31203816 31203816 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:31203816G>A uc002hho.1 - 1 87 c.75C>T c.(73-75)TTC>TTT p.F25F MYO1D_uc002hhp.1_Silent_p.F25F|MYO1D_uc010wcb.1_Silent_p.F25F NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 25 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) GGTTGGCCATGAACTCGGGCA 0.721 NaN 0 0 0 0.004672 0 3 3 MPP2 4355 broad.mit.edu 37 17 41957217 41957217 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:41957217G>A uc010wip.1 - 11 1478 c.1421C>T c.(1420-1422)ACA>ATA p.T474I MPP2_uc002ien.1_Missense_Mutation_p.T446I|MPP2_uc010wim.1_Missense_Mutation_p.T418I|MPP2_uc002ieo.1_Missense_Mutation_p.T429I|MPP2_uc010win.1_Missense_Mutation_p.T290I|MPP2_uc010wio.1_Missense_Mutation_p.T418I NM_005374 NP_005365 Q14168 MPP2_HUMAN palmitoylated membrane protein 2 453 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane|membrane fraction guanylate kinase activity 0 Breast(137;0.00314) BRCA - Breast invasive adenocarcinoma(366;0.12) GTCAATACGTGTGCCATACAG 0.627 NaN OREG0024443 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.004289 0 37 78 COIL 8161 broad.mit.edu 37 17 55027348 55027348 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:55027348G>A uc002iuu.2 - 2 1286 c.1255C>T c.(1255-1257)CGA>TGA p.R419* NM_004645 NP_004636 P38432 COIL_HUMAN coilin 419 3-4.|4 X 2 AA tandem repeats of R-G.|2 X 4 AA repeats of S-L-P-A. Cajal body|nucleolus protein C-terminus binding ovary(1) 1 Breast(9;6.15e-08) GGATGCCCTCGTCCTCGACCT 0.478 NaN 0 0 0 0.01441 0 54 111 ABCA6 23460 broad.mit.edu 37 17 67075206 67075206 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:67075206C>G uc002jhw.1 - 39 4937 c.4762G>C c.(4762-4764)GAG>CAG p.E1588Q NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1588 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) TTAGAAAGCTCTAAGAATACC 0.353 NaN 0 0 0 0.010504 0 22 26 TBC1D16 125058 broad.mit.edu 37 17 77922709 77922709 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:77922709G>T uc002jxj.2 - 8 1619 c.1503C>A c.(1501-1503)TTC>TTA p.F501L TBC1D16_uc002jxh.2_Missense_Mutation_p.F139L|TBC1D16_uc002jxi.2_Missense_Mutation_p.F126L|TBC1D16_uc002jxk.1_Missense_Mutation_p.F139L NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 501 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CCCCCCGGAAGAACTGGTTGT 0.572 NaN 1 0 4.24508e-63 0.01441 4.96144e-63 102 148 PPP4R1 9989 broad.mit.edu 37 18 9553378 9553378 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:9553378G>A uc002koe.1 - 16 2351 c.2233C>T c.(2233-2235)CAG>TAG p.Q745* PPP4R1_uc002kof.2_Nonsense_Mutation_p.Q162*|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q591*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q728* NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 745 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 AAAAACTCCTGAAGTTGATAA 0.328 NaN 0 0 0 0.012213 0 30 37 PSMA8 143471 broad.mit.edu 37 18 23731808 23731808 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:23731808G>C uc002kvq.2 + 3 348 c.234G>C c.(232-234)TTG>TTC p.L78F PSMA8_uc002kvo.2_Intron|PSMA8_uc002kvp.2_Intron|PSMA8_uc002kvr.2_Intron NM_144662 NP_653263 Q8TAA3 PSA7L_HUMAN proteasome alpha 8 subunit isoform 1 78 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex, alpha-subunit complex threonine-type endopeptidase activity skin(1) 1 all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124) OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181) GTGAAGTTTTGACAATTTTTA 0.358 NaN 0 0 0 0.01441 0 77 28 ELP2 55250 broad.mit.edu 37 18 33744590 33744590 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:33744590G>A uc002kzk.1 + 18 1924 c.1914G>A c.(1912-1914)TGG>TGA p.W638* ELP2_uc010xcg.1_Nonsense_Mutation_p.W703*|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Nonsense_Mutation_p.W612*|ELP2_uc010xch.1_Nonsense_Mutation_p.W633*|ELP2_uc002kzn.1_Nonsense_Mutation_p.W568*|ELP2_uc002kzo.1_Nonsense_Mutation_p.W568* NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 638 WD 11. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 ATCGAACCTGGTCATTGTGGA 0.398 NaN 0 0 0 0.008361 0 29 32 POLI 11201 broad.mit.edu 37 18 51804150 51804150 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:51804150G>C uc002lfj.3 + 4 552 c.484G>C c.(484-486)GAG>CAG p.E162Q POLI_uc010xds.1_Missense_Mutation_p.E162Q|POLI_uc002lfk.3_Missense_Mutation_p.E59Q|POLI_uc002lfl.1_Missense_Mutation_p.E94Q NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 162 UmuC. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AGAAATGGTTGAGAAGAGACT 0.373 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.00245 0 14 17 ZNF532 55205 broad.mit.edu 37 18 56601746 56601746 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:56601746C>A uc002lho.2 + 5 2975 c.2428C>A c.(2428-2430)CCC>ACC p.P810T ZNF532_uc002lhp.2_Missense_Mutation_p.P808T|ZNF532_uc010xeg.1_Missense_Mutation_p.P808T|ZNF532_uc002lhr.2_Missense_Mutation_p.P808T|ZNF532_uc002lhs.2_Missense_Mutation_p.P808T NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 810 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GCACAAATCTCCCTACACCTG 0.522 NaN 1 0 1.4709e-25 0.01441 1.64706e-25 59 91 ZNF516 9658 broad.mit.edu 37 18 74154543 74154543 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:74154543G>T uc010dqx.1 - 2 703 c.468C>A c.(466-468)AGC>AGA p.S156R ZNF516_uc002lme.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 156 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCCCCTTCTTGCTGCTCCGCA 0.701 NaN 1 0 0.00024832 0.009096 0.000255142 4 4 NFATC1 4772 broad.mit.edu 37 18 77171093 77171093 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr18:77171093G>T uc010xfg.1 + 2 1271 c.818G>T c.(817-819)CGG>CTG p.R273L NFATC1_uc002lnc.1_Missense_Mutation_p.R273L|NFATC1_uc010xff.1_Missense_Mutation_p.R273L|NFATC1_uc002lnd.2_Missense_Mutation_p.R273L|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Missense_Mutation_p.R273L|NFATC1_uc010xfi.1_Missense_Mutation_p.R260L|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Missense_Mutation_p.R260L|NFATC1_uc002lng.2_Missense_Mutation_p.R260L|NFATC1_uc010xfk.1_Missense_Mutation_p.R260L NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 273 3 X SP repeats. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CTCAACGGCCGGCAGCCGCCC 0.706 NaN 1 0 2.27111e-07 0.013537 2.37926e-07 13 40 SEMA6B 10501 broad.mit.edu 37 19 4550226 4550226 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:4550226C>T uc010duc.1 - 11 1218 c.1180G>A c.(1180-1182)GAC>AAC p.D394N SEMA6B_uc010dud.2_Missense_Mutation_p.D394N|SEMA6B_uc010xih.1_Missense_Mutation_p.D394N NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 394 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TTGAGGATGTCATCCGGCAAG 0.642 NaN 0 0 0 0.007835 0 37 31 ZNF560 147741 broad.mit.edu 37 19 9578205 9578205 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:9578205G>A uc002mlp.1 - 10 1628 c.1418C>T c.(1417-1419)TCA>TTA p.S473L ZNF560_uc010dwr.1_Missense_Mutation_p.S367L NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 473 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 AATAACACCTGAGGATGTACC 0.393 NaN 0 0 0 0.013114 0 45 181 ICAM5 7087 broad.mit.edu 37 19 10405105 10405105 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:10405105C>A uc002mnu.3 + 9 2084 c.2019C>A c.(2017-2019)TGC>TGA p.C673* ICAM5_uc002mnv.3_Nonsense_Mutation_p.C548* NM_003259 NP_003250 Q9UMF0 ICAM5_HUMAN intercellular adhesion molecule 5 precursor 673 Extracellular (Potential).|Ig-like C2-type 8. cell-cell adhesion integral to plasma membrane breast(3) 3 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) AATCTACCTGCCCAAGTCACC 0.692 NaN 1 0 2.14255e-21 0.01441 2.37075e-21 61 34 SMARCA4 6597 broad.mit.edu 37 19 11152120 11152120 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:11152120G>C uc002mqf.3 + 30 4592 c.4308G>C c.(4306-4308)GAG>GAC p.E1436D SMARCA4_uc010dxp.2_Missense_Mutation_p.E1436D|SMARCA4_uc010dxo.2_Missense_Mutation_p.E1468D|SMARCA4_uc010dxq.2_Missense_Mutation_p.E1403D|SMARCA4_uc010dxr.2_Missense_Mutation_p.E1403D|SMARCA4_uc002mqj.3_Missense_Mutation_p.E1406D|SMARCA4_uc010dxs.2_Missense_Mutation_p.E1406D|SMARCA4_uc002mqh.3_Missense_Mutation_p.E526D NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 1436 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) AGGACGACGAGAGCAAGAAGC 0.617 NaN F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 0 0 0 0.014323 0 22 11 ZNF653 115950 broad.mit.edu 37 19 11597944 11597944 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:11597944C>T uc002mrz.1 - 5 1254 c.1201G>A c.(1201-1203)GAG>AAG p.E401K NM_138783 NP_620138 Q96CK0 ZN653_HUMAN zinc finger protein 653 401 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCTTCTCCTCCTTCTTTAGC 0.647 NaN 0 0 0 0.01441 0 51 84 ZNF878 729747 broad.mit.edu 37 19 12154731 12154731 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:12154731G>A uc002mta.1 - 5 1626 c.1626C>T c.(1624-1626)CTC>CTT p.L542L NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN zinc finger protein 878 495 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 TTTCATGGTAGAGAAAAGAGT 0.393 NaN 0 0 0 0.010504 0 21 39 JUNB 3726 broad.mit.edu 37 19 12902839 12902839 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:12902839C>T uc002mvc.2 + 1 530 c.254C>T c.(253-255)TCG>TTG p.S85L JUNB_uc002mvb.2_RNA NM_002229 NP_002220 P17275 JUNB_HUMAN jun B proto-oncogene 85 chromatin|nucleus protein dimerization activity|transcription coactivator activity|transcription corepressor activity lung(2)|central_nervous_system(1) 3 CTCGCCTCTTCGGAGCTGGAA 0.687 NaN 0 0 0 0.000602 0 4 21 SYCE2 256126 broad.mit.edu 37 19 13015434 13015434 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:13015434A>C uc002mvr.2 - 3 193 c.178T>G c.(178-180)TTC>GTC p.F60V NM_001105578 NP_001099048 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 60 cell division central element 0 AGAGAGGAGAAGTAGAGTCCC 0.537 NaN 0 0 0 0.00308 0 8 196 TMEM38A 79041 broad.mit.edu 37 19 16790904 16790904 + Silent SNP C C T rs144587502 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:16790904C>T uc002nes.2 + 2 325 c.234C>T c.(232-234)ATC>ATT p.I78I NM_024074 NP_076979 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 78 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|ovary(1) 3 AGCCACTGATCGATTACTTCA 0.602 NaN 0 0 0 0.013114 0 45 74 PLVAP 83483 broad.mit.edu 37 19 17487748 17487748 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:17487748C>T uc002ngk.1 - 1 400 c.350G>A c.(349-351)CGC>CAC p.R117H NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 117 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CTGGCACTGGCGGAAGCTGGC 0.428 NaN 0 0 0 0.010504 0 19 37 SLC27A1 376497 broad.mit.edu 37 19 17611152 17611152 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:17611152C>A uc002ngu.1 + 8 1322 c.1272C>A c.(1270-1272)GTC>GTA p.V424V SLC27A1_uc010xpp.1_Silent_p.V245V|SLC27A1_uc002ngv.1_Silent_p.V26V NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 424 Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 TGGTGAAGGTCAATGAGGACA 0.662 NaN 1 0 4.22769e-11 0.00632 4.4792e-11 29 127 SLC27A1 376497 broad.mit.edu 37 19 17611371 17611371 + Silent SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:17611371C>G uc002ngu.1 + 9 1451 c.1401C>G c.(1399-1401)GTC>GTG p.V467V SLC27A1_uc010xpp.1_Silent_p.V288V|SLC27A1_uc002ngv.1_Silent_p.V69V NM_198580 NP_940982 Q6PCB7 S27A1_HUMAN solute carrier family 27, member 1 467 Sufficient for oligomerization (By similarity).|Cytoplasmic (Potential). cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding 0 ATGGCTATGTCAGCGAGAGCG 0.642 NaN 0 0 0 0.003163 0 16 37 TSHZ3 57616 broad.mit.edu 37 19 31768032 31768032 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:31768032C>T uc002nsy.3 - 2 2732 c.2667G>A c.(2665-2667)CAG>CAA p.Q889Q NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 889 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CCTTCCTCTTCTGGGCGGGCG 0.612 NaN 0 0 0 0.01441 0 51 50 GPI 2821 broad.mit.edu 37 19 34884660 34884660 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:34884660C>T uc002nvg.1 + 11 996 c.893C>T c.(892-894)TCG>TTG p.S298L GPI_uc002nvf.2_Missense_Mutation_p.S337L|GPI_uc010xrv.1_Missense_Mutation_p.S309L|GPI_uc010xrw.1_Missense_Mutation_p.S270L|GPI_uc010edl.1_Missense_Mutation_p.S298L|GPI_uc002nvi.1_5'UTR NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 298 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) CAGCTGCTCTCGGGGGCTCAC 0.602 NaN 0 0 0 0.01441 0 74 92 C19orf55 148137 broad.mit.edu 37 19 36256029 36256029 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:36256029G>A uc002obq.1 + 7 794 c.721G>A c.(721-723)GAG>AAG p.E241K NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN hypothetical protein LOC148137 241 Ser-rich. ovary(1) 1 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCCCTTCTCGGAGACCTTCAT 0.478 NaN 0 0 0 0.004007 0 16 222 RYR1 6261 broad.mit.edu 37 19 38945908 38945908 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:38945908C>T uc002oit.2 + 14 1604 c.1474C>T c.(1474-1476)CGC>TGC p.R492C RYR1_uc002oiu.2_Missense_Mutation_p.R492C NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 492 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TTGCATAGACCGCCTAAATGT 0.507 NaN 0 0 0 0.01441 0 65 105 PRX 57716 broad.mit.edu 37 19 40901226 40901226 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:40901226C>T uc002onr.2 - 7 3302 c.3033G>A c.(3031-3033)GGG>GGA p.G1011G PRX_uc002onq.2_Silent_p.G872G|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1011 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) TGAGGTCGGCCCCTGCCACCT 0.647 NaN 0 0 0 0.01441 0 72 80 RTN2 6253 broad.mit.edu 37 19 45996515 45996515 + Silent SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:45996515G>T uc002pcb.2 - 5 1164 c.936C>A c.(934-936)CCC>CCA p.P312P RTN2_uc002pcc.2_Intron|RTN2_uc002pcd.2_Intron NM_005619 NP_005610 O75298 RTN2_HUMAN reticulon 2 isoform A 312 integral to endoplasmic reticulum membrane signal transducer activity ovary(3) 3 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CAGGAGTAGGGGGGGTGGGGC 0.562 NaN 1 0 5.61819e-17 0.005443 6.12595e-17 28 234 GRIN2D 2906 broad.mit.edu 37 19 48919324 48919324 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:48919324C>T uc002pjc.3 + 7 1735 c.1647C>T c.(1645-1647)ATC>ATT p.I549I NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 549 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GCTCCGAGATCGTGGACTTCT 0.662 NaN 0 0 0 0.004289 0 36 118 PPP1R15A 23645 broad.mit.edu 37 19 49377076 49377076 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:49377076G>A uc002pky.3 + 2 855 c.586G>A c.(586-588)GAA>AAA p.E196K NM_014330 NP_055145 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 196 Glu-rich. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding lung(1) 1 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) GGAGGACGATGAAGAAGCTGT 0.532 NaN 0 0 0 0.004482 0 7 129 NTF4 4909 broad.mit.edu 37 19 49564969 49564969 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:49564969C>T uc002pmf.3 - 2 427 c.286G>A c.(286-288)GTG>ATG p.V96M CGB7_uc010yah.1_Intron NM_006179 NP_006170 P34130 NTF4_HUMAN neurotrophin 5 preproprotein 96 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity 0 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) GCATCGCACACAGCCAGCTCA 0.701 NaN 0 0 0 0.005524 0 38 34 PPFIA3 8541 broad.mit.edu 37 19 49643309 49643309 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:49643309C>T uc002pmr.2 + 18 2664 c.2332C>T c.(2332-2334)CGA>TGA p.R778* PPFIA3_uc010yai.1_RNA|PPFIA3_uc010yaj.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.R646*|PPFIA3_uc002pmt.2_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 778 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) AGAGAAGGGACGAATGGGACC 0.428 NaN 0 0 0 0.01441 0 47 78 POLD1 5424 broad.mit.edu 37 19 50905324 50905324 + Missense_Mutation SNP G G T rs140707092 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:50905324G>T uc002psb.3 + 5 588 c.532G>T c.(532-534)GGG>TGG p.G178W POLD1_uc002psc.3_Missense_Mutation_p.G178W|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.G178W NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 178 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) GGACAGTCGCGGGGGGAGGGA 0.672 NaN DNA_polymerases_(catalytic_subunits) 1 0 8.72198e-27 0.01441 9.79586e-27 49 53 POLD1 5424 broad.mit.edu 37 19 50918133 50918133 + Missense_Mutation SNP G G A rs142017093 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:50918133G>A uc002psb.3 + 20 2506 c.2450G>A c.(2449-2451)CGG>CAG p.R817Q POLD1_uc002psc.3_Missense_Mutation_p.R817Q|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.R843Q NM_002691 NP_002682 P28340 DPOD1_HUMAN DNA-directed DNA polymerase delta 1 817 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex 3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 all_neural(266;0.0571) OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195) TTCTCCTCCCGGCCCGACGCC 0.667 NaN DNA_polymerases_(catalytic_subunits) OREG0025635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013114 0 46 49 KLK15 55554 broad.mit.edu 37 19 51330209 51330209 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:51330209C>T uc002ptl.2 - 3 437 c.406G>A c.(406-408)GAG>AAG p.E136K KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.E136K|KLK15_uc002pto.2_Missense_Mutation_p.E135K|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.E135K|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 136 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) ACACAGGCCTCCCCCGGGTGG 0.692 NaN 0 0 0 0.003163 0 16 97 KLK15 55554 broad.mit.edu 37 19 51330397 51330397 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:51330397C>T uc002ptl.2 - 3 249 c.218G>A c.(217-219)GGA>GAA p.G73E KLK15_uc002ptm.2_Missense_Mutation_p.G73E|KLK15_uc002ptn.2_Missense_Mutation_p.G73E|KLK15_uc002pto.2_Missense_Mutation_p.G72E|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Missense_Mutation_p.G72E|KLK15_uc010eod.2_RNA NM_017509 NP_059979 Q9H2R5 KLK15_HUMAN kallikrein-related peptidase 15 isoform 4 73 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity lung(1)|breast(1) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143) GTTGTGCTCTCCCAGGCGCAC 0.622 NaN 0 0 0 0.008871 0 20 120 ZNF614 80110 broad.mit.edu 37 19 52519431 52519431 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:52519431C>T uc002pyj.2 - 5 1822 c.1420G>A c.(1420-1422)GAG>AAG p.E474K ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.E177K NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 474 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGACATCTCTCATGTTGTATG 0.408 NaN 0 0 0 0.005443 0 27 291 ZNF761 388561 broad.mit.edu 37 19 53958557 53958557 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:53958557G>A uc010eqp.2 + 7 1254 c.796G>A c.(796-798)GGT>AGT p.G266S ZNF761_uc010ydy.1_Missense_Mutation_p.G212S|ZNF761_uc002qbt.1_Missense_Mutation_p.G212S NM_001008401 NP_001008401 Q86XN6 ZN761_HUMAN zinc finger protein 761 266 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00786) ATGTCACACTGGTGAGAATCC 0.413 NaN 0 0 0 0.01441 0 146 234 NLRP5 126206 broad.mit.edu 37 19 56538965 56538965 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr19:56538965C>T uc002qmj.2 + 7 1366 c.1366C>T c.(1366-1368)CGT>TGT p.R456C NLRP5_uc002qmi.2_Missense_Mutation_p.R437C NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 456 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) ACAAGGGTTGCGTGCGATCAT 0.592 NaN 0 0 0 0.00333 0 25 36 ROCK2 9475 broad.mit.edu 37 2 11338883 11338883 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:11338883C>T uc002rbd.1 - 24 3377 c.2928G>A c.(2926-2928)AGG>AGA p.R976R NM_004850 NP_004841 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein 976 Potential. axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity stomach(2)|skin(2) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TAGTTAGTGTCCTATTAGTTT 0.279 NaN 0 0 0 0.00245 0 11 33 RHOB 388 broad.mit.edu 37 2 20647365 20647365 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:20647365G>A uc002rdv.2 + 1 531 c.139G>A c.(139-141)GAG>AAG p.E47K NM_004040 NP_004031 P62745 RHOB_HUMAN ras homolog gene family, member B precursor 47 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding ovary(1)|lung(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GGCCGACATTGAGGTGGACGG 0.647 NaN 0 0 0 0.005443 0 28 101 ZNF512 84450 broad.mit.edu 37 2 27825413 27825413 + Silent SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:27825413C>G uc002rla.2 + 8 840 c.753C>G c.(751-753)CTC>CTG p.L251L ZNF512_uc010ylv.1_Silent_p.L172L|ZNF512_uc010ylw.1_Silent_p.L222L|ZNF512_uc002rlb.2_Silent_p.L172L|ZNF512_uc010ylx.1_Silent_p.L172L|ZNF512_uc002rlc.2_Silent_p.L172L|ZNF512_uc010yly.1_RNA|ZNF512_uc010ylz.1_Silent_p.L144L NM_032434 NP_115810 Q96ME7 ZN512_HUMAN zinc finger protein 512 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155) TGGGAAAGCTCAGGTGCATGC 0.463 NaN 0 0 0 0.004482 0 7 54 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48874166 48874166 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:48874166A>G uc010yol.1 + 5 2981 c.2934A>G c.(2932-2934)ATA>ATG p.I978M STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.I1025M|GTF2A1L_uc002rws.1_Missense_Mutation_p.I321M|GTF2A1L_uc010yom.1_Missense_Mutation_p.I287M|GTF2A1L_uc002rwt.2_Missense_Mutation_p.I321M NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 978 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) CCAGCAACATACCTGTATCAG 0.393 NaN 0 0 0 0.00278 0 23 53 NRXN1 9378 broad.mit.edu 37 2 50733754 50733754 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:50733754G>T uc010fbq.2 - 13 3973 c.2496C>A c.(2494-2496)AGC>AGA p.S832R NRXN1_uc002rxb.3_Missense_Mutation_p.S464R|NRXN1_uc002rxe.3_Missense_Mutation_p.S792R|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) CGGGACCTTTGCCTGTAGAAT 0.358 NaN 1 0 2.0095e-06 0.001984 2.08764e-06 7 66 EFEMP1 2202 broad.mit.edu 37 2 56144828 56144828 + Nonsense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:56144828G>C uc002rzh.2 - 4 819 c.489C>G c.(487-489)TAC>TAG p.Y163* EFEMP1_uc002rzi.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc002rzj.2_Nonsense_Mutation_p.Y163*|EFEMP1_uc010ypc.1_Nonsense_Mutation_p.Y105* NM_004105 NP_004096 Q12805 FBLN3_HUMAN EGF-containing fibulin-like extracellular matrix 163 negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception extracellular space|proteinaceous extracellular matrix calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity ovary(4)|pancreas(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CACTTTGCTCGTAGCCTGCTG 0.507 NaN 0 0 0 0.01441 0 58 225 FAM161A 84140 broad.mit.edu 37 2 62067209 62067209 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:62067209C>T uc010ypo.1 - 3 1032 c.930G>A c.(928-930)CTG>CTA p.L310L FAM161A_uc002sbm.3_Silent_p.L310L|FAM161A_uc002sbn.3_Silent_p.L120L|FAM161A_uc010fcm.1_RNA|FAM161A_uc010fcn.1_Silent_p.L201L NM_032180 NP_115556 Q3B820 F161A_HUMAN hypothetical protein LOC84140 310 Potential. response to stimulus|visual perception centrosome large_intestine(2)|ovary(1) 3 TTTTCTCCTTCAGAGACCTTC 0.443 NaN 0 0 0 0.01441 0 62 268 STAMBP 10617 broad.mit.edu 37 2 74074811 74074811 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:74074811G>T uc002sjs.2 + 5 723 c.673G>T c.(673-675)GTA>TTA p.V225L STAMBP_uc002sjt.2_Missense_Mutation_p.V225L|STAMBP_uc002sju.2_Missense_Mutation_p.V225L|STAMBP_uc002sjv.2_Missense_Mutation_p.V225L NM_201647 NP_964010 O95630 STABP_HUMAN STAM binding protein 225 JAK-STAT cascade|positive regulation of cell proliferation early endosome|membrane|nucleus metal ion binding|metallopeptidase activity|protein binding ovary(1)|lung(1)|breast(1)|pancreas(1) 4 TCACACAACTGTAAGGCCAGC 0.517 NaN 1 0 3.5997e-14 0.014323 3.891e-14 23 153 LRRTM1 347730 broad.mit.edu 37 2 80529551 80529551 + Missense_Mutation SNP A A C rs148119501 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:80529551A>C uc002sok.1 - 2 1664 c.1394T>G c.(1393-1395)GTC>GGC p.V465G CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 465 Cytoplasmic (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GCGCTGCGTGACAAAGCACTG 0.532 NaN HNSCC(69;0.2) 0 0 0 0.014323 0 20 126 C2orf29 55571 broad.mit.edu 37 2 101869621 101869621 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:101869621G>A uc002taw.3 + 1 277 c.195G>A c.(193-195)CCG>CCA p.P65P NM_017546 NP_060016 Q9UKZ1 CB029_HUMAN hypothetical protein LOC55571 65 cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening cytosol ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 GCTTGACCCCGAAGGAGCTCT 0.527 NaN 0 0 0 0.00308 0 7 25 IL18RAP 8807 broad.mit.edu 37 2 103063657 103063657 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:103063657G>C uc002tbx.2 + 10 1684 c.1200G>C c.(1198-1200)CAG>CAC p.Q400H IL18RAP_uc010fiz.2_Missense_Mutation_p.Q258H NM_003853 NP_003844 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 400 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity skin(3)|ovary(2) 5 GCAAGGATCAGACGCTTGGGG 0.557 NaN 0 0 0 0.01441 0 225 180 CNTNAP5 129684 broad.mit.edu 37 2 125192129 125192129 + Missense_Mutation SNP A A T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:125192129A>T uc002tno.2 + 5 962 c.598A>T c.(598-600)ACT>TCT p.T200S CNTNAP5_uc010flu.2_Missense_Mutation_p.T200S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 200 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GTTGATGAGTACTCTCAAAGA 0.468 NaN 0 0 0 0.014323 0 22 77 ACVR2A 92 broad.mit.edu 37 2 148676128 148676128 + Missense_Mutation SNP T T A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:148676128T>A uc002twg.2 + 8 1198 c.929T>A c.(928-930)CTA>CAA p.L310Q ACVR2A_uc010zbn.1_Missense_Mutation_p.L202Q|ACVR2A_uc002twh.2_Missense_Mutation_p.L310Q NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 310 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) ATACCTGGCCTAAAAGATGGC 0.378 NaN 0 0 0 0.001855 0 5 43 NEB 4703 broad.mit.edu 37 2 152468823 152468823 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:152468823C>G uc010fnx.2 - 74 11144 c.10953G>C c.(10951-10953)AAG>AAC p.K3651N NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3651 Nebulin 100. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CTCCAGCTCTCTTCACTTTCT 0.458 NaN 0 0 0 0.00623 0 37 21 NR4A2 4929 broad.mit.edu 37 2 157182439 157182439 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:157182439G>A uc002tyz.3 - 8 2036 c.1614C>T c.(1612-1614)CAC>CAT p.H538H NR4A2_uc002tyx.3_Silent_p.H475H|NR4A2_uc010zcf.1_Silent_p.H538H NM_006186 NP_006177 P43354 NR4A2_HUMAN nuclear receptor subfamily 4, group A, member 2 538 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 TGAAAGTCACGTGGTCTTTGA 0.463 NaN 0 0 0 0.00632 0 28 60 ACVR1C 130399 broad.mit.edu 37 2 158406900 158406900 + Silent SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:158406900T>C uc002tzk.3 - 4 792 c.549A>G c.(547-549)CTA>CTG p.L183L ACVR1C_uc002tzl.3_Silent_p.L103L|ACVR1C_uc010fof.2_Intron|ACVR1C_uc010foe.2_Silent_p.L133L NM_145259 NP_660302 Q8NER5 ACV1C_HUMAN activin A receptor, type IC isoform 1 183 Cytoplasmic (Potential).|GS. apoptosis|cell differentiation|regulation of apoptosis activin receptor complex activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity lung(3)|ovary(2)|skin(2) 7 CCAACAGAGGTAGACCTAACC 0.368 NaN 0 0 0 0.01441 0 61 32 TANK 10010 broad.mit.edu 37 2 162088031 162088031 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:162088031C>A uc002ubr.1 + 7 1228 c.1070C>A c.(1069-1071)TCC>TAC p.S357Y TANK_uc002ubs.2_Missense_Mutation_p.S357Y NM_004180 NP_004171 Q92844 TANK_HUMAN TRAF interacting protein TANK isoform a 357 cytosol metal ion binding|protein binding ovary(1) 1 TCACTCGATTCCCCGGGAAAA 0.428 NaN 1 0 7.22619e-39 0.01441 8.29016e-39 55 65 KCNH7 90134 broad.mit.edu 37 2 163256815 163256815 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:163256815G>T uc002uch.1 - 10 2503 c.2291C>A c.(2290-2292)ACC>AAC p.T764N NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 764 Cytoplasmic (Potential).|cNMP. regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) AGGTGCATGGGTGGTTTTGAA 0.458 NaN 1 0 5.32379e-58 0.01441 6.18353e-58 136 110 SCN1A 6323 broad.mit.edu 37 2 166850696 166850696 + Nonsense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:166850696C>T uc010zcz.1 - 25 4797 c.4779G>A c.(4777-4779)TGG>TGA p.W1593* NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1604 IV.|Helical; Name=S3 of repeat IV; (By similarity). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CAAAAATATTCCATCCAATGG 0.323 NaN 0 0 0 0.001855 0 13 34 LRP2 4036 broad.mit.edu 37 2 170063662 170063662 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:170063662C>G uc002ues.2 - 39 6781 c.6568G>C c.(6568-6570)GAC>CAC p.D2190H NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 2190 LDL-receptor class B 21.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CTAGGCATGTCCACTGTGACT 0.428 NaN 0 0 0 0.01441 0 106 95 MYO3B 140469 broad.mit.edu 37 2 171259362 171259362 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:171259362G>T uc002ufy.2 + 19 2277 c.2134G>T c.(2134-2136)GCA>TCA p.A712S MYO3B_uc002ufv.2_Missense_Mutation_p.A699S|MYO3B_uc010fqb.1_Missense_Mutation_p.A699S|MYO3B_uc002ufz.2_Missense_Mutation_p.A712S|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 712 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 ATGCAGTAGTGCAGGAGGTGG 0.428 NaN 1 0 4.54149e-19 0.014323 4.96642e-19 21 107 FKBP7 51661 broad.mit.edu 37 2 179343041 179343041 + Silent SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:179343041G>T uc002umk.2 - 1 315 c.186C>A c.(184-186)GGC>GGA p.G62G FKBP7_uc002umm.2_Silent_p.G62G|FKBP7_uc002uml.2_RNA|FKBP7_uc010zff.1_Silent_p.G58G|PLEKHA3_uc002umn.2_5'Flank NM_181342 NP_851939 Q9Y680 FKBP7_HUMAN FK506 binding protein 7 isoform a precursor 62 PPIase FKBP-type. protein folding endoplasmic reticulum lumen|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) TAGCCAGGTAGCCGTCATAAT 0.498 NaN 1 0 1.99505e-19 0.012213 2.18812e-19 33 108 TTN 7273 broad.mit.edu 37 2 179617850 179617850 + Splice_Site SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:179617850C>A uc010zfg.1 - 45 10584 c.10360_splice c.e45+1 p.A3454_splice TTN_uc010zfh.1_Splice_Site_p.E3600_splice|TTN_uc010zfi.1_Splice_Site_p.E3533_splice|TTN_uc010zfj.1_Splice_Site_p.E3408_splice|TTN_uc002umz.1_Splice_Site_p.A115_splice|TTN_uc002unb.2_Splice_Site_p.E3454_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 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) TATAACAATACCTTTCATTTC 0.294 NaN 1 0 1.23904e-05 0.000602 1.28011e-05 5 12 BMPR2 659 broad.mit.edu 37 2 203420682 203420682 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:203420682C>T uc002uzf.3 + 12 3442 c.2294C>T c.(2293-2295)TCA>TTA p.S765L BMPR2_uc010ftr.2_Intron NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 765 Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 ACCAAAAATTCAACAAAAGAG 0.428 NaN 0 0 0 0.00278 0 23 80 ZDBF2 57683 broad.mit.edu 37 2 207172029 207172029 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:207172029C>T uc002vbp.2 + 5 3027 c.2777C>T c.(2776-2778)TCA>TTA p.S926L NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 926 nucleic acid binding|zinc ion binding ovary(3) 3 ATTTTTCATTCAGTGACTGGA 0.318 NaN 0 0 0 0.00499 0 18 40 ERBB4 2066 broad.mit.edu 37 2 212285209 212285209 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:212285209G>A uc002veg.1 - 25 3190 c.3092C>T c.(3091-3093)CCA>CTA p.P1031L ERBB4_uc002veh.1_Missense_Mutation_p.P1031L|ERBB4_uc010zji.1_Missense_Mutation_p.P1021L|ERBB4_uc010zjj.1_Missense_Mutation_p.P1021L NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1031 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GATGGGAGGTGGGATGTTGAA 0.373 NaN TSP Lung(8;0.080) 0 0 0 0.009096 0 4 70 ATG9A 79065 broad.mit.edu 37 2 220089301 220089301 + Silent SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:220089301G>C uc002vke.1 - 8 978 c.792C>G c.(790-792)CTC>CTG p.L264L ATG9A_uc002vkd.1_RNA|ATG9A_uc002vkf.1_Silent_p.L264L NM_001077198 NP_001070666 Q7Z3C6 ATG9A_HUMAN APG9 autophagy 9-like 1 264 Cytoplasmic (By similarity). autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane skin(1) 1 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCATTCATTGAGAAACAGAG 0.582 NaN 0 0 0 0.00499 0 15 42 DNPEP 23549 broad.mit.edu 37 2 220251131 220251131 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:220251131C>T uc010zlg.1 - 5 442 c.360G>A c.(358-360)GTG>GTA p.V120V DNPEP_uc010zlf.1_5'Flank|DNPEP_uc002vle.2_Silent_p.V112V|DNPEP_uc002vlf.1_Silent_p.V98V|DNPEP_uc002vlh.2_Silent_p.V59V|DNPEP_uc002vli.1_Silent_p.V59V|DNPEP_uc002vlj.2_Silent_p.V102V|uc002vlk.1_5'Flank NM_012100 NP_036232 Q9ULA0 DNPEP_HUMAN aspartyl aminopeptidase 102 peptide metabolic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding 0 Renal(207;0.0474) Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) L-Glutamic Acid(DB00142) ACCGACGTTTCACCTGAGTGT 0.517 NaN 0 0 0 0.00333 0 23 80 DNER 92737 broad.mit.edu 37 2 230377518 230377518 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:230377518G>A uc002vpv.2 - 6 1275 c.1128C>T c.(1126-1128)TTC>TTT p.F376F DNER_uc010zly.1_Silent_p.F104F NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 376 Extracellular (Potential).|EGF-like 4. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) AAACACAGGTGAAATTGCTCC 0.398 NaN 0 0 0 0.01441 0 89 72 SNED1 25992 broad.mit.edu 37 2 242027796 242027796 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr2:242027796C>G uc002wah.1 + 31 4222 c.4222C>G c.(4222-4224)CAG>GAG p.Q1408E SNED1_uc002waj.1_Missense_Mutation_p.Q434E NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 1408 cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) AAGTAAGAGTCAGACACTGGA 0.512 NaN 0 0 0 0.001168 0 5 92 ISM1 140862 broad.mit.edu 37 20 13251266 13251266 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:13251266G>T uc010gce.1 + 2 260 c.254G>T c.(253-255)CGA>CTA p.R85L TASP1_uc010zri.1_Intron NM_080826 NP_543016 B1AKI9 ISM1_HUMAN isthmin 1 homolog precursor 85 extracellular region 0 CCCAGACCGCGATTCCGACAA 0.507 NaN 1 0 0.004672 0.004672 0.00474817 3 50 KIF16B 55614 broad.mit.edu 37 20 16359942 16359942 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:16359942A>C uc002wpg.1 - 19 2863 c.2705T>G c.(2704-2706)CTG>CGG p.L902R KIF16B_uc002wpe.1_Missense_Mutation_p.L284R|KIF16B_uc002wpf.1_Missense_Mutation_p.L284R|KIF16B_uc010gch.1_Missense_Mutation_p.L902R|KIF16B_uc010gci.1_Missense_Mutation_p.L902R|KIF16B_uc010gcj.1_Missense_Mutation_p.L913R NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 902 Glu-rich. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TTTATATTGCAGCCTGTACTC 0.433 NaN 0 0 0 0.01441 0 83 70 CSRP2BP 57325 broad.mit.edu 37 20 18142726 18142726 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:18142726G>C uc002wqj.2 + 6 1567 c.945G>C c.(943-945)TTG>TTC p.L315F CSRP2BP_uc002wqk.2_Missense_Mutation_p.L187F|CSRP2BP_uc010zru.1_Missense_Mutation_p.L186F NM_020536 NP_065397 Q9H8E8 CSR2B_HUMAN CSRP2 binding protein 315 histone H3 acetylation Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm LIM domain binding|N-acetyltransferase activity lung(3)|ovary(2)|skin(1) 6 TTTCCTCCTTGAGCTCCTCTG 0.527 NaN 0 0 0 0.01441 0 101 230 ITCH 83737 broad.mit.edu 37 20 33067581 33067581 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:33067581G>A uc010geu.1 + 19 2120 c.1928G>A c.(1927-1929)AGA>AAA p.R643K ITCH_uc002xak.2_Missense_Mutation_p.R602K|ITCH_uc010zuj.1_Missense_Mutation_p.R492K NM_031483 NP_113671 Q96J02 ITCH_HUMAN itchy homolog E3 ubiquitin protein ligase 643 HECT. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity breast(4)|lung(1)|central_nervous_system(1) 6 TTTATTGGCAGATTTATTGCC 0.368 NaN 0 0 0 0.005524 0 38 30 CEBPB 1051 broad.mit.edu 37 20 48808576 48808576 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:48808576G>T uc002xvi.1 + 1 1201 c.1006G>T c.(1006-1008)GAG>TAG p.E336* CEBPB_uc002xvh.2_RNA NM_005194 NP_005185 P17676 CEBPB_HUMAN CCAAT/enhancer binding protein beta 336 acute-phase response|immune response sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19) GCAGCTGCCCGAGCCCCTGCT 0.488 NaN 1 0 3.59834e-05 0.001168 3.70738e-05 6 8 ZNF217 7764 broad.mit.edu 37 20 52199284 52199284 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:52199284G>C uc002xwq.3 - 1 353 c.82C>G c.(82-84)CTT>GTT p.L28V ZNF217_uc010gij.1_Missense_Mutation_p.L20V NM_006526 NP_006517 O75362 ZN217_HUMAN zinc finger protein 217 28 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|lung(1)|breast(1) 6 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) GGACTGCCAAGAGAGCTGCCA 0.458 NaN 0 0 0 0.00874 0 41 55 C20orf106 200232 broad.mit.edu 37 20 55101119 55101119 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr20:55101119C>G uc002xxx.2 + 2 589 c.509C>G c.(508-510)TCT>TGT p.S170C GCNT7_uc010zzg.1_5'Flank|C20orf107_uc010zzh.1_Intron NM_001012971 NP_001012989 Q5JX71 CT106_HUMAN hypothetical protein LOC200232 precursor 170 Cytoplasmic (Potential). integral to membrane 0 Colorectal(105;0.202) GAAGAAAGCTCTAGCTGAATG 0.408 NaN 0 0 0 0.004656 0 25 50 TPTE 7179 broad.mit.edu 37 21 10942758 10942758 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr21:10942758C>T uc002yip.1 - 13 1051 c.683G>A c.(682-684)AGG>AAG p.R228K TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.R210K|TPTE_uc002yir.1_Missense_Mutation_p.R190K|TPTE_uc010gkv.1_Missense_Mutation_p.R90K NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 228 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.I228V(1) 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) TGTGTATCGCCTTTTGTTTTC 0.328 NaN 0 0 0 0.01441 0 90 510 UBASH3A 53347 broad.mit.edu 37 21 43867194 43867194 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr21:43867194G>T uc002zbe.2 + 15 1912 c.1876G>T c.(1876-1878)GAA>TAA p.E626* UBASH3A_uc002zbf.2_Nonsense_Mutation_p.E588*|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Silent_p.V515V NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 626 Phosphatase-like. cytosol|nucleus ovary(3) 3 GTGCTTCTGTGAAGAAAATAA 0.463 NaN 1 0 1.02487e-32 0.01441 1.16152e-32 69 167 PRAME 23532 broad.mit.edu 37 22 22892514 22892514 + Missense_Mutation SNP A A G rs140739353 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:22892514A>G uc002zwf.2 - 4 743 c.587T>C c.(586-588)ATT>ACT p.I196T LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.I180T|PRAME_uc010gtr.2_Missense_Mutation_p.I196T|PRAME_uc002zwg.2_Missense_Mutation_p.I196T|PRAME_uc002zwh.2_Missense_Mutation_p.I196T|PRAME_uc002zwi.2_Missense_Mutation_p.I196T|PRAME_uc002zwj.2_Missense_Mutation_p.I196T|PRAME_uc002zwk.2_Missense_Mutation_p.I196T NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 196 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CACTTTCTCAATGAGGTAGGA 0.458 NaN 0 0 0 0.01441 0 57 85 EP300 2033 broad.mit.edu 37 22 41553350 41553350 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 G T G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr22:41553350G>T uc003azl.3 + 18 3834 c.3439G>T c.(3439-3441)GAG>TAG p.E1147* NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 1147 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CAAGCTCTCTGAGGTCTTTGA 0.403 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 1 0 1.23713e-20 0.01441 1.36486e-20 48 53 TTLL3 26140 broad.mit.edu 37 3 9862298 9862298 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:9862298C>G uc003btg.2 + 7 814 c.598C>G c.(598-600)CTG>GTG p.L200V ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.L167V|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.L136V|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.L136V|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 200 TTL. axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) GGATGAAGCTCTGTGTGCGTG 0.582 NaN 0 0 0 0.01441 0 66 202 PPARG 5468 broad.mit.edu 37 3 12447409 12447409 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:12447409C>A uc003bwx.2 + 5 739 c.648C>A c.(646-648)GCC>GCA p.A216A PPARG_uc003bwr.2_Silent_p.A188A|PPARG_uc003bws.2_Silent_p.A188A|PPARG_uc003bwu.2_Silent_p.A188A|PPARG_uc003bwv.2_Silent_p.A188A|PPARG_uc010hea.1_RNA|PPARG_uc003bwq.1_Silent_p.A188A|PPARG_uc003bwt.1_Silent_p.A188A|PPARG_uc003bww.1_Silent_p.A216A NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 216 Interaction with FAM120B (By similarity). activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) TGCCACAGGCCGAGAAGGAGA 0.517 NaN T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension 1 0 2.98393e-07 0.00278 3.11729e-07 22 120 FBLN2 2199 broad.mit.edu 37 3 13660497 13660497 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:13660497C>T uc011avb.1 + 7 2158 c.2033C>T c.(2032-2034)CCG>CTG p.P678L FBLN2_uc011auz.1_Missense_Mutation_p.P704L|FBLN2_uc011ava.1_Missense_Mutation_p.P678L|FBLN2_uc011avc.1_Missense_Mutation_p.P678L NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 678 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) CTGCCACTGCCGCAGCCCAAT 0.622 NaN 0 0 0 0.001984 0 7 19 ZNF385D 79750 broad.mit.edu 37 3 21552450 21552450 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:21552450C>T uc003cce.2 - 4 750 c.342G>A c.(340-342)ATG>ATA p.M114I ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 114 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GCTTATTTTTCATGGCTTCCA 0.463 NaN 0 0 0 0.01441 0 72 75 XYLB 9942 broad.mit.edu 37 3 38401846 38401846 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:38401846C>G uc003cic.2 + 3 266 c.157C>G c.(157-159)CAT>GAT p.H53D XYLB_uc011ayp.1_Intron|XYLB_uc003cid.1_5'UTR NM_005108 NP_005099 O75191 XYLB_HUMAN xylulokinase 53 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) GGGTGGTGTTCATGTGCACAA 0.532 NaN 0 0 0 0.01441 0 93 96 ZNF662 389114 broad.mit.edu 37 3 42954704 42954704 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:42954704C>G uc003cmi.2 + 4 515 c.163C>G c.(163-165)CTA>GTA p.L55V ZNF662_uc003cmk.2_Intron|ZNF662_uc003cmj.2_Intron NM_207404 NP_997287 Q6ZS27 ZN662_HUMAN zinc finger protein 662 isoform 1 55 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.217) ATATCCATTTCTAAAGCCTGC 0.498 NaN 0 0 0 0.004007 0 16 56 CCR5 1234 broad.mit.edu 37 3 46415295 46415295 + Missense_Mutation SNP G G A rs1800943 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:46415295G>A uc003cpo.3 + 3 1024 c.902G>A c.(901-903)GGG>GAG p.G301E CCR5_uc010hjd.2_Missense_Mutation_p.G301E NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 301 Helical; Name=7; (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) GCCTTTGTCGGGGAGAAGTTC 0.483 NaN 0 0 0 0.01441 0 293 290 NBEAL2 23218 broad.mit.edu 37 3 47040469 47040469 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:47040469G>A uc003cqp.2 + 24 3584 c.3405G>A c.(3403-3405)CTG>CTA p.L1135L NBEAL2_uc010hjm.1_Intron|NBEAL2_uc010hjn.1_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 1135 Leu-rich. binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) CGCTGGACCTGCTGCTGGCCC 0.667 NaN OREG0015546 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 5 16 BSN 8927 broad.mit.edu 37 3 49692495 49692495 + Nonsense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:49692495G>T uc003cxe.3 + 5 5620 c.5506G>T c.(5506-5508)GAG>TAG p.E1836* NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 1836 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCAGTGCCAGAGCCAGGTGC 0.622 NaN 1 0 7.11191e-15 0.013726 7.70972e-15 33 114 DOCK3 1795 broad.mit.edu 37 3 51264853 51264853 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:51264853G>A uc011bds.1 + 16 1540 c.1517G>A c.(1516-1518)CGC>CAC p.R506H NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 506 DHR-1. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) TCCCACCTGCGCTTTGAGTTC 0.468 NaN 0 0 0 0.01441 0 82 103 RAD54L2 23132 broad.mit.edu 37 3 51673632 51673632 + Silent SNP C C T rs139263625 byFrequency TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:51673632C>T uc011bdt.1 + 12 2183 c.2058C>T c.(2056-2058)GGC>GGT p.G686G RAD54L2_uc003dbh.2_Silent_p.G277G|RAD54L2_uc011bdu.1_Silent_p.G380G|RAD54L2_uc003dbj.2_Silent_p.G12G NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 686 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TCCTACAGGGCGTTGGCTTCA 0.517 NaN 0 0 0 0.006214 0 8 41 FLNB 2317 broad.mit.edu 37 3 58095302 58095302 + Splice_Site SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:58095302G>A uc003djj.2 + 15 2365 c.2200_splice c.e15-1 p.V734_splice FLNB_uc010hne.2_Splice_Site_p.V734_splice|FLNB_uc003djk.2_Splice_Site_p.V734_splice|FLNB_uc010hnf.2_Splice_Site_p.V734_splice|FLNB_uc003djl.2_Splice_Site_p.V565_splice|FLNB_uc003djm.2_Splice_Site_p.V565_splice NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GTCTTCTCTAGGTCAACATCG 0.458 NaN 0 0 0 0.01441 0 74 90 ROBO2 6092 broad.mit.edu 37 3 77637928 77637928 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:77637928G>C uc003dpy.3 + 17 3170 c.2527G>C c.(2527-2529)GAA>CAA p.E843Q ROBO2_uc003dpz.2_Missense_Mutation_p.E847Q|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.E847Q|ROBO2_uc003dqa.2_5'UTR NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 843 Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGTCATTACTGAAAACAATAA 0.373 NaN 0 0 0 0.009718 0 45 57 IMPG2 50939 broad.mit.edu 37 3 100962599 100962599 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:100962599T>C uc003duq.1 - 13 2779 c.2576A>G c.(2575-2577)AAT>AGT p.N859S IMPG2_uc011bhe.1_Missense_Mutation_p.N722S NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 859 Extracellular (Potential). visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AACCTTGCCATTTTGCTCTTG 0.448 NaN 0 0 0 0.01441 0 51 90 BBX 56987 broad.mit.edu 37 3 107435578 107435578 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:107435578C>T uc010hpr.2 + 5 614 c.287C>T c.(286-288)TCT>TTT p.S96F BBX_uc003dwk.3_Missense_Mutation_p.S96F|BBX_uc003dwl.3_Missense_Mutation_p.S96F|BBX_uc010hps.1_Missense_Mutation_p.S117F|BBX_uc003dwm.3_Missense_Mutation_p.S96F NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 96 HMG box. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) CGCCATCGCTCTCTTGTACGT 0.463 NaN 0 0 0 0.01441 0 111 68 PHLDB2 90102 broad.mit.edu 37 3 111664202 111664202 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:111664202G>C uc010hqa.2 + 9 2896 c.2485G>C c.(2485-2487)GAG>CAG p.E829Q PHLDB2_uc003dyc.2_Missense_Mutation_p.E813Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.E829Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.E786Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.E415Q NM_001134438 NP_001127910 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, 829 cytoplasm|intermediate filament cytoskeleton|plasma membrane ovary(4)|skin(2) 6 TACTTTAAAAGAGGTAAGCTA 0.348 NaN 0 0 0 0.007291 0 27 20 GTPBP8 29083 broad.mit.edu 37 3 112710056 112710056 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:112710056C>T uc003dzn.2 + 1 257 c.210C>T c.(208-210)ATC>ATT p.I70I GTPBP8_uc011bhy.1_RNA|GTPBP8_uc003dzp.2_RNA|GTPBP8_uc003dzo.2_Silent_p.I70I NM_014170 NP_054889 Q8N3Z3 GTPB8_HUMAN GTP-binding protein 8 isoform 1 70 barrier septum formation GTP binding 0 ACCTGCGTATCTTTGACCCAA 0.622 NaN 0 0 0 0.004656 0 25 48 PLA1A 51365 broad.mit.edu 37 3 119344030 119344030 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:119344030G>A uc003ecu.2 + 9 1111 c.1072G>A c.(1072-1074)GAG>AAG p.E358K PLA1A_uc003ecv.2_Missense_Mutation_p.E342K|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.E185K NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 358 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 CACCAACATCGAGGTTACCTT 0.448 NaN 0 0 0 0.01441 0 51 27 C3orf15 89876 broad.mit.edu 37 3 119456222 119456222 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:119456222G>C uc003ede.3 + 11 1431 c.1354G>C c.(1354-1356)GAT>CAT p.D452H C3orf15_uc010hqy.1_Missense_Mutation_p.D452H|C3orf15_uc010hqz.2_Missense_Mutation_p.D390H|C3orf15_uc011bjd.1_Missense_Mutation_p.D326H|C3orf15_uc011bje.1_Missense_Mutation_p.D432H|C3orf15_uc010hra.1_Missense_Mutation_p.D213H NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha Error:Variant_position_missing_in_Q7Z4T9_after_alignment mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) GGCACTGTTGGATAAGAAGAA 0.279 NaN 0 0 0 0.010504 0 21 68 C3orf15 89876 broad.mit.edu 37 3 119456227 119456227 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:119456227G>A uc003ede.3 + 11 1436 c.1359G>A c.(1357-1359)AAG>AAA p.K453K C3orf15_uc010hqy.1_Silent_p.K453K|C3orf15_uc010hqz.2_Silent_p.K391K|C3orf15_uc011bjd.1_Silent_p.K327K|C3orf15_uc011bje.1_Silent_p.K433K|C3orf15_uc010hra.1_Silent_p.K214K NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha Error:Variant_position_missing_in_Q7Z4T9_after_alignment mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) TGTTGGATAAGAAGAATAAAG 0.294 NaN 0 0 0 0.008871 0 20 69 IQCJ 654502 broad.mit.edu 37 3 158983102 158983102 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:158983102C>T uc003fcp.1 + 5 495 c.390C>T c.(388-390)CTC>CTT p.L130L SCHIP1_uc003fcq.1_Intron|SCHIP1_uc003fcr.1_Intron|IQCJ_uc010hvy.1_Silent_p.L103L NM_001042705 NP_001036170 Q1A5X6 IQCJ_HUMAN IQ motif containing J isoform CaMBPv1 130 0 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) TGATTCTTCTCTACCTTGACC 0.512 NaN 0 0 0 0.01441 0 74 58 IL1RAP 3556 broad.mit.edu 37 3 190366273 190366273 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:190366273G>C uc003fsm.1 + 12 1698 c.1492G>C c.(1492-1494)GTC>CTC p.V498L IL1RAP_uc010hzg.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.V498L|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 498 Cytoplasmic (Potential).|TIR. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) CAACATCAACGTCATTTTAGT 0.502 NaN 0 0 0 0.01441 0 59 139 MFI2 4241 broad.mit.edu 37 3 196753550 196753550 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr3:196753550C>T uc003fxk.3 - 3 398 c.285G>A c.(283-285)GTG>GTA p.V95V MFI2_uc003fxl.3_Silent_p.V95V|MFI2_uc011bua.1_Silent_p.V95V NM_005929 NP_005920 P08582 TRFM_HUMAN melanoma-associated antigen p97 isoform 1 95 Transferrin-like 1. cellular iron ion homeostasis|iron ion transport anchored to membrane|extracellular region|integral to plasma membrane ferric iron binding|protein binding 0 all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00536) ACACTTCGCCCACCACCGGCT 0.622 NaN 0 0 0 0.004007 0 16 77 ZNF721 170960 broad.mit.edu 37 4 436965 436965 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:436965T>C uc003gag.2 - 3 1982 c.1291A>G c.(1291-1293)AAC>GAC p.N431D ABCA11P_uc003gac.2_Intron|ABCA11P_uc003gad.2_Intron|ABCA11P_uc011buv.1_Intron|ABCA11P_uc003gae.2_Intron|ABCA11P_uc010ibd.1_Intron|ZNF721_uc003gaf.3_Missense_Mutation_p.N463D|ZNF721_uc010ibe.2_Missense_Mutation_p.N419D NM_133474 NP_597731 D9N162 D9N162_HUMAN zinc finger protein 721 431 intracellular nucleic acid binding|zinc ion binding ovary(1) 1 TCATTCAGGTTTGTGGACAAT 0.373 NaN 0 0 0 0.001984 0 6 44 FGFR3 2261 broad.mit.edu 37 4 1803738 1803738 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:1803738G>A uc003gdr.3 + 7 1172 c.916G>A c.(916-918)GTT>ATT p.V306I FGFR3_uc003gdu.2_Missense_Mutation_p.V306I|FGFR3_uc003gds.3_Missense_Mutation_p.V306I|FGFR3_uc003gdq.3_Missense_Mutation_p.V306I|FGFR3_uc010icb.1_Intron|FGFR3_uc003gdt.1_Intron NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 306 Ig-like C2-type 3.|Extracellular (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CACACCCTACGTTACCGTGCT 0.667 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.000602 0 5 10 ATP10D 57205 broad.mit.edu 37 4 47538788 47538788 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:47538788A>G uc003gxk.1 + 9 1393 c.1229A>G c.(1228-1230)TAC>TGC p.Y410C ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.Y395C NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 410 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 GTGGATTTCTACAATGAAAAA 0.398 NaN 0 0 0 0.00245 0 14 16 ATP10D 57205 broad.mit.edu 37 4 47574247 47574247 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:47574247G>A uc003gxk.1 + 17 3404 c.3240G>A c.(3238-3240)CAG>CAA p.Q1080Q ATP10D_uc003gxl.1_Silent_p.Q328Q NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1080 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 AAGGCATGCAGGTGAGTGGAT 0.498 NaN 0 0 0 0.008361 0 29 34 GSX2 170825 broad.mit.edu 37 4 54968033 54968033 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:54968033G>A uc010igp.1 + 2 1123 c.859G>A c.(859-861)GAG>AAG p.E287K PDGFRA_uc003haa.2_Intron NM_133267 NP_573574 Q9BZM3 GSX2_HUMAN GS homeobox 2 287 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147) LUSC - Lung squamous cell carcinoma(32;0.00216) CTCCGAGGATGAGGACTCCCT 0.647 NaN 0 0 0 0.00632 0 29 20 REST 5978 broad.mit.edu 37 4 57777573 57777573 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:57777573A>G uc003hch.2 + 2 1116 c.769A>G c.(769-771)ACA>GCA p.T257A REST_uc003hci.2_Missense_Mutation_p.T257A|REST_uc003hcj.1_Missense_Mutation_p.T257A|REST_uc010ihf.2_5'UTR NM_005612 NP_005603 Q13127 REST_HUMAN RE1-silencing transcription factor 257 C2H2-type 3. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding skin(5)|upper_aerodigestive_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 9 Glioma(25;0.08)|all_neural(26;0.181) CACATACACAACAGTGAGCGA 0.383 NaN 0 0 0 0.010771 0 45 40 LPHN3 23284 broad.mit.edu 37 4 62800707 62800707 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:62800707G>A uc010ihh.2 + 11 2231 c.2058G>A c.(2056-2058)AAG>AAA p.K686K LPHN3_uc003hcq.3_Silent_p.K686K|LPHN3_uc003hct.2_Silent_p.K79K|LPHN3_uc003hcs.1_Silent_p.K502K NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 673 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ACCTTTTGAAGACTGACATTG 0.438 NaN 0 0 0 0.00499 0 15 24 EPHA5 2044 broad.mit.edu 37 4 66356360 66356360 + Silent SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:66356360C>A uc003hcy.2 - 5 1330 c.1137G>T c.(1135-1137)CCG>CCT p.P379P EPHA5_uc003hcx.2_Silent_p.P310P|EPHA5_uc003hcz.2_Silent_p.P379P|EPHA5_uc011cah.1_Silent_p.P379P|EPHA5_uc011cai.1_Silent_p.P379P|EPHA5_uc003hda.2_Silent_p.P379P NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 379 Fibronectin type-III 1.|Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGTCAGCAGGCGGAATCCATT 0.458 NaN TSP Lung(17;0.13) 1 0 0.000274275 0.004482 0.00028027 9 47 USO1 8615 broad.mit.edu 37 4 76721825 76721825 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:76721825G>C uc003hiu.2 + 15 1912 c.1737G>C c.(1735-1737)GAG>GAC p.E579D USO1_uc003hiv.2_Missense_Mutation_p.E421D|USO1_uc003hiw.2_Missense_Mutation_p.E414D NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 579 Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ATTTCATAGAGAAACTAGGAT 0.348 NaN 0 0 0 0.005524 0 38 25 ANKRD56 345079 broad.mit.edu 37 4 77817830 77817830 + Silent SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:77817830G>T uc003hki.2 - 1 1173 c.1173C>A c.(1171-1173)CTC>CTA p.L391L NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 391 0 CCAGATCTTGGAGGGACAGCT 0.577 NaN 1 0 9.78306e-22 0.009535 1.08572e-21 30 113 DSPP 1834 broad.mit.edu 37 4 88533799 88533799 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:88533799C>G uc003hqu.2 + 4 581 c.461C>G c.(460-462)ACT>AGT p.T154S NM_014208 NP_055023 Q9NZW4 DSPP_HUMAN dentin sialophosphoprotein preproprotein 154 biomineral tissue development|ossification|skeletal system development proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent central_nervous_system(1) 1 Hepatocellular(203;0.114)|all_hematologic(202;0.236) OV - Ovarian serous cystadenocarcinoma(123;0.000508) AGAAGCAACACTAATGGAAAT 0.438 NaN 0 0 0 0.010504 0 22 31 CENPE 1062 broad.mit.edu 37 4 104044225 104044225 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:104044225C>G uc003hxb.1 - 43 7036 c.6946G>C c.(6946-6948)GAG>CAG p.E2316Q CENPE_uc003hxc.1_Missense_Mutation_p.E2195Q NM_001813 NP_001804 Q02224 CENPE_HUMAN centromere protein E 2316 Kinetochore-binding domain.|Potential. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity ovary(5)|breast(4) 9 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) TCCTCAAACTCTGTTGATTCA 0.264 NaN 0 0 0 0.00623 0 38 36 PDE5A 8654 broad.mit.edu 37 4 120517758 120517758 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:120517758A>C uc003idh.2 - 3 906 c.751T>G c.(751-753)TTC>GTC p.F251V PDE5A_uc003idf.2_Missense_Mutation_p.F209V|PDE5A_uc003idg.2_Missense_Mutation_p.F199V NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 251 GAF 1. platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) TCTGCATTGAACCGAGGATCC 0.328 NaN 0 0 0 0.00245 0 14 29 OTUD4 54726 broad.mit.edu 37 4 146058794 146058794 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:146058794G>A uc003ika.3 - 21 3076 c.2938C>T c.(2938-2940)CAA>TAA p.Q980* OTUD4_uc003ijz.3_Nonsense_Mutation_p.Q979* NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 1044 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) CCATAAGTTTGATTATAGAAC 0.408 NaN 0 0 0 0.01441 0 73 131 ETFDH 2110 broad.mit.edu 37 4 159627494 159627494 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:159627494G>A uc003iqb.2 + 11 1771 c.1439G>A c.(1438-1440)GGA>GAA p.G480E ETFDH_uc011cjg.1_Missense_Mutation_p.G433E|ETFDH_uc010iqr.2_Missense_Mutation_p.G77E|ETFDH_uc011cjh.1_Missense_Mutation_p.G419E|ETFDH_uc010iqs.2_Missense_Mutation_p.G402E NM_004453 NP_004444 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 480 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding large_intestine(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) ATATTGAGAGGAATGGAGCCG 0.378 NaN 0 0 0 0.014323 0 22 30 GLRA3 8001 broad.mit.edu 37 4 175749928 175749928 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr4:175749928G>A uc003ity.1 - 1 538 c.35C>T c.(34-36)TCG>TTG p.S12L GLRA3_uc003itz.1_Missense_Mutation_p.S12L|uc003iua.1_5'Flank|uc003iub.1_5'Flank NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 12 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GTAAAATCCCGAAACTAATGT 0.458 NaN 0 0 0 0.010504 0 21 29 C5orf42 65250 broad.mit.edu 37 5 37183592 37183592 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:37183592C>G uc011cpa.1 - 26 4922 c.4691G>C c.(4690-4692)AGA>ACA p.R1564T C5orf42_uc011coy.1_Missense_Mutation_p.R65T|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.R639T|C5orf42_uc011cpb.1_Missense_Mutation_p.R445T NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1564 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AGGTAGGTCTCTTTCAAGAAT 0.323 NaN 0 0 0 0.008871 0 20 54 SNX18 112574 broad.mit.edu 37 5 53815261 53815261 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:53815261C>T uc003jpj.3 + 1 1669 c.1479C>T c.(1477-1479)ATC>ATT p.I493I SNX18_uc011cqg.1_Silent_p.I493I|SNX18_uc003jpi.3_Silent_p.I493I NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 493 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) ACCAGGCTATCGCCTTCACCG 0.607 NaN 0 0 0 0.013726 0 34 56 ADAMTS6 11174 broad.mit.edu 37 5 64629868 64629868 + Splice_Site SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:64629868C>A uc003jtp.2 - 8 1931 c.1117_splice c.e8+1 p.G373_splice ADAMTS6_uc003jto.2_Splice_Site|ADAMTS6_uc003jtq.2_Splice_Site|ADAMTS6_uc003jtr.1_Splice_Site NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) aaaaaaCTTACCCAGTGTTCC 0.244 NaN 1 0 0.00198382 0.001984 0.00202166 6 12 C5orf44 80006 broad.mit.edu 37 5 64954221 64954221 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:64954221G>C uc003jtz.3 + 9 921 c.591G>C c.(589-591)CAG>CAC p.Q197H C5orf44_uc003jua.3_Missense_Mutation_p.Q197H|C5orf44_uc003juc.3_Missense_Mutation_p.Q191H|C5orf44_uc010iwv.2_Missense_Mutation_p.Q191H NM_024941 NP_079217 A5PLN9 CE044_HUMAN hypothetical protein LOC80006 isoform 2 197 ovary(1) 1 TGGAAGCCCAGATTCAGAATA 0.353 NaN 0 0 0 0.001984 0 7 4 TNPO1 3842 broad.mit.edu 37 5 72192882 72192882 + Splice_Site SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:72192882G>C uc003kck.3 + 20 2390 c.2243_splice c.e20-1 p.G748_splice TNPO1_uc011csj.1_Splice_Site_p.G698_splice|TNPO1_uc003kch.2_Splice_Site_p.G740_splice|TNPO1_uc003kci.3_Splice_Site_p.G740_splice|TNPO1_uc003kcg.3_Splice_Site_p.G740_splice NM_002270 NP_002261 Q92973 TNPO1_HUMAN transportin 1 isoform 1 interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation cytosol|nucleus nuclear localization sequence binding|protein binding|protein transporter activity skin(3)|urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1) 7 Lung NSC(167;0.0053)|Ovarian(174;0.0175) OV - Ovarian serous cystadenocarcinoma(47;6.14e-54) ATGATCTCTAGGTATAGAGAT 0.343 NaN 0 0 0 0.00333 0 25 23 GPR98 84059 broad.mit.edu 37 5 90055402 90055402 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:90055402G>A uc003kju.2 + 58 12213 c.12117G>A c.(12115-12117)AAG>AAA p.K4039K GPR98_uc003kjt.2_Silent_p.K1745K|GPR98_uc003kjv.2_Silent_p.K1639K NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 4039 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGAAGAAAAGACTGTAAGTT 0.373 NaN 0 0 0 0.009096 0 4 8 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139889343 139889343 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:139889343T>C uc003lfs.1 + 21 4011 c.3887T>C c.(3886-3888)TTA>TCA p.L1296S ANKHD1_uc003lfq.1_Missense_Mutation_p.L1315S|ANKHD1_uc003lfr.2_Missense_Mutation_p.L1296S|ANKHD1_uc003lft.1_Missense_Mutation_p.L507S|ANKHD1_uc003lfu.1_Missense_Mutation_p.L776S|ANKHD1_uc003lfv.1_Missense_Mutation_p.L373S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.L35S|ANKHD1_uc003lfw.2_5'Flank NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 1296 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATACTGCTTTAACAATAGCA 0.408 NaN 0 0 0 0.005443 0 27 26 PCDHB3 56132 broad.mit.edu 37 5 140481673 140481673 + Silent SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:140481673A>G uc003lio.2 + 1 1440 c.1440A>G c.(1438-1440)TCA>TCG p.S480S uc003lin.2_Intron NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 480 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACAGAGACTCAGGCACCAACG 0.647 NaN 0 0 0 0.01441 0 69 105 PCDHB5 26167 broad.mit.edu 37 5 140516673 140516673 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:140516673G>A uc003liq.2 + 1 1874 c.1657G>A c.(1657-1659)GCC>ACC p.A553T NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 553 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTGCTGGACGCCAACGACAA 0.716 NaN 0 0 0 0.00278 0 23 56 KIAA0141 9812 broad.mit.edu 37 5 141309811 141309811 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:141309811C>T uc003lls.2 + 7 848 c.726C>T c.(724-726)CTC>CTT p.L242L KIAA0141_uc003llt.2_Silent_p.L242L NM_001142603 NP_001136075 Q14154 DELE_HUMAN hypothetical protein LOC9812 precursor 242 TPR 1. apoptosis|regulation of caspase activity mitochondrion protein binding skin(1) 1 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCCAGCTCAGTGTTTCCA 0.473 NaN 0 0 0 0.001855 0 11 24 ADRB2 154 broad.mit.edu 37 5 148207103 148207103 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:148207103G>C uc003lpr.1 + 1 948 c.709G>C c.(709-711)GAG>CAG p.E237Q SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 237 Cytoplasmic. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TGACAAATCTGAGGGCCGCTT 0.547 NaN 0 0 0 0.001168 0 6 100 GABRG2 2566 broad.mit.edu 37 5 161580368 161580368 + Nonsense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:161580368C>A uc003lyz.3 + 9 1756 c.1398C>A c.(1396-1398)TAC>TAA p.Y466* GABRG2_uc010jjc.2_Nonsense_Mutation_p.Y514*|GABRG2_uc003lyy.3_Nonsense_Mutation_p.Y474*|GABRG2_uc011dej.1_Nonsense_Mutation_p.Y371* NM_000816 NP_000807 P18507 GBRG2_HUMAN gamma-aminobutyric acid A receptor, gamma 2 466 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(4)|skin(1) 5 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCTACCTCTACCTGTGAGGAG 0.443 NaN 1 0 1.07363e-35 0.01441 1.2242e-35 74 114 CLK4 57396 broad.mit.edu 37 5 178050303 178050303 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr5:178050303C>T uc003mjf.1 - 2 223 c.115G>A c.(115-117)GAG>AAG p.E39K CLK4_uc003mjg.1_5'UTR|CLK4_uc010jku.1_5'UTR|CLK4_uc003mjh.1_5'UTR|CLK4_uc010jkv.1_RNA|CLK4_uc011dgg.1_Missense_Mutation_p.E39K|CLK4_uc011dgh.1_5'UTR|CLK4_uc011dgi.1_Missense_Mutation_p.E39K|CLK4_uc011dgj.1_Missense_Mutation_p.E39K|CLK4_uc003mji.2_Missense_Mutation_p.E39K|CLK4_uc010jkw.1_Missense_Mutation_p.E39K NM_020666 NP_065717 Q9HAZ1 CLK4_HUMAN CDC-like kinase 4 39 nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(1) 1 all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918) all_cancers(40;0.0272)|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) all cancers(165;0.235) TGCCTGTTCTCTTGTGTGCTA 0.388 NaN 0 0 0 0.01441 0 55 53 GMDS 2762 broad.mit.edu 37 6 1624454 1624454 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:1624454C>T uc003mtq.2 - 11 1259 c.1069G>A c.(1069-1071)GAG>AAG p.E357K NM_001500 NP_001491 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 357 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity central_nervous_system(1) 1 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) TGCACCATCTCCCTCACCAGC 0.677 NaN 0 0 0 0.007413 0 17 15 HIST1H2BI 8346 broad.mit.edu 37 6 26273579 26273579 + Nonsense_Mutation SNP A A T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:26273579A>T uc003nhk.2 + 1 376 c.376A>T c.(376-378)AAG>TAG p.K126* HIST1H3G_uc003nhi.2_5'Flank NM_003525 NP_003516 P62807 H2B1C_HUMAN histone cluster 1, H2bi 126 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 CACCAGCTCCAAGTAAACTAG 0.537 NaN 0 0 0 0.004656 0 27 31 LY6G6F 259215 broad.mit.edu 37 6 31675751 31675751 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:31675751G>A uc003nwa.1 + 3 486 c.486G>A c.(484-486)GGG>GGA p.G162G BAT5_uc011dnz.1_Intron|LY6G6F_uc003nwb.1_Silent_p.G162G NM_001003693 NP_001003693 Q5SQ64 LY66F_HUMAN G6f protein precursor 162 Extracellular (Potential). integral to membrane|plasma membrane breast(1)|central_nervous_system(1) 2 GGCAGGAAGGGAAGGGTCCCG 0.627 NaN 0 0 0 0.01441 0 51 79 PSMB8 5696 broad.mit.edu 37 6 32809989 32809989 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:32809989C>A uc003oce.2 - 4 502 c.459G>T c.(457-459)AAG>AAT p.K153N PSMB8_uc003ocf.2_Missense_Mutation_p.K149N|PSMB8_uc011dqh.1_3'UTR NM_148919 NP_683720 P28062 PSB8_HUMAN proteasome beta 8 subunit isoform E2 proprotein 153 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity skin(1) 1 TGGACAGCAGCTTGGAGGCTG 0.522 NaN 1 0 2.56175e-15 0.01441 2.78515e-15 48 47 ZBTB9 221504 broad.mit.edu 37 6 33424237 33424237 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:33424237C>G uc003oeq.2 + 2 1628 c.1360C>G c.(1360-1362)CTC>GTC p.L454V NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN zinc finger and BTB domain containing 9 454 C2H2-type 2; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCCTGTTTTCTCCGCCACCG 0.572 NaN 0 0 0 0.01441 0 65 54 DAAM2 23500 broad.mit.edu 37 6 39847178 39847178 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:39847178C>T uc003oow.2 + 14 1926 c.1770C>T c.(1768-1770)GAC>GAT p.D590D DAAM2_uc010jxc.2_Silent_p.D590D|DAAM2_uc003oox.2_Silent_p.D590D NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 590 FH1.|Pro-rich. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CCAGCAGTGACGTCCCACTCA 0.597 NaN 0 0 0 0.010818 0 32 39 GNMT 27232 broad.mit.edu 37 6 42930028 42930028 + Silent SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:42930028A>G uc003otd.2 + 2 291 c.285A>G c.(283-285)GCA>GCG p.A95A uc003ote.1_5'Flank NM_018960 NP_061833 Q14749 GNMT_HUMAN glycine N-methyltransferase 95 protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process folic acid binding|glycine binding|glycine N-methyltransferase activity 0 Colorectal(47;0.196) all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461) Glycine(DB00145)|S-Adenosylmethionine(DB00118) TGAAGTATGCACTTAAGGAGC 0.592 NaN 0 0 0 0.00632 0 29 50 PKHD1 5314 broad.mit.edu 37 6 51887631 51887631 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:51887631G>A uc003pah.1 - 33 5624 c.5348C>T c.(5347-5349)TCT>TTT p.S1783F PKHD1_uc003pai.2_Missense_Mutation_p.S1783F NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 1783 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GCTGAAGGCAGACACTGTAGC 0.473 NaN 0 0 0 0.005524 0 38 40 KHDC1 80759 broad.mit.edu 37 6 73951907 73951907 + Nonsense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:73951907G>A uc003pgo.2 - 4 886 c.385C>T c.(385-387)CAG>TAG p.Q129* KHDC1_uc011dyl.1_RNA|KHDC1_uc003pgn.3_Nonsense_Mutation_p.Q56* NM_030568 NP_085045 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 129 KH; atypical. integral to membrane RNA binding skin(1) 1 CTCTCCAGCTGAATAAGGGTG 0.547 NaN 0 0 0 0.010729 0 11 58 BACH2 60468 broad.mit.edu 37 6 90642597 90642597 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:90642597C>G uc011eab.1 - 9 2865 c.2056G>C c.(2056-2058)GAG>CAG p.E686Q BACH2_uc003pnw.2_Missense_Mutation_p.E686Q NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 686 Leucine-zipper. nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) AACAGTTTCTCTTTCTCACAC 0.473 NaN 0 0 0 0.00874 0 43 33 RTN4IP1 84816 broad.mit.edu 37 6 107040127 107040127 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:107040127C>A uc003prj.2 - 6 1195 c.718G>T c.(718-720)GCC>TCC p.A240S RTN4IP1_uc010kdd.2_Intron|RTN4IP1_uc003prk.2_Missense_Mutation_p.A140S NM_032730 NP_116119 Q8WWV3 RT4I1_HUMAN reticulon 4 interacting protein 1 precursor 240 mitochondrion oxidoreductase activity|zinc ion binding 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144) Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394) all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144) AGTTCACTGGCATCTTGGGAG 0.398 NaN 1 0 1.86277e-20 0.01441 2.04905e-20 56 47 ROS1 6098 broad.mit.edu 37 6 117683989 117683989 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:117683989G>C uc003pxp.1 - 21 3357 c.3158C>G c.(3157-3159)CCA>CGA p.P1053R ROS1_uc011ebi.1_RNA|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 1053 Fibronectin type-III 5.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) TTTTCCACTTGGTAATATAAA 0.348 NaN T GOPC|ROS1 glioblastoma|NSCLC 0 0 0 0.013537 0 13 55 C6orf174 387104 broad.mit.edu 37 6 127796661 127796661 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:127796661C>G uc003qbd.2 - 6 3375 c.2510G>C c.(2509-2511)AGC>ACC p.S837T C6orf174_uc003qbc.2_5'UTR NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 837 integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) GATGATGGTGCTCGTGTCGGC 0.662 NaN 0 0 0 0.01441 0 55 148 SAMD3 154075 broad.mit.edu 37 6 130535635 130535635 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:130535635T>C uc003qbv.2 - 5 442 c.116A>G c.(115-117)AAT>AGT p.N39S SAMD3_uc003qbx.2_Missense_Mutation_p.N39S|SAMD3_uc003qbw.2_Missense_Mutation_p.N39S|SAMD3_uc010kfg.1_Missense_Mutation_p.N39S|SAMD3_uc003qby.2_Missense_Mutation_p.N39S|SAMD3_uc003qbz.1_5'UTR NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 isoform 39 SAM. ovary(1) 1 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) CATCCGATCATTAAGTGCAAG 0.408 NaN 0 0 0 0.01441 0 60 58 SMOC2 64094 broad.mit.edu 37 6 169064760 169064760 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:169064760G>A uc003qws.1 + 12 1312 c.1292G>A c.(1291-1293)AGA>AAA p.R431K SMOC2_uc003qwr.1_Missense_Mutation_p.R442K|SMOC2_uc011egu.1_Missense_Mutation_p.R108K NM_022138 NP_071421 Q9H3U7 SMOC2_HUMAN SPARC related modular calcium binding 2 431 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) CTAGCCCCCAGAGGTCATGCT 0.299 NaN 0 0 0 0.010729 0 10 73 INTS1 26173 broad.mit.edu 37 7 1524940 1524940 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:1524940G>C uc003skn.2 - 23 3243 c.3142C>G c.(3142-3144)CTG>GTG p.L1048V INTS1_uc003skp.1_Missense_Mutation_p.L395V NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1048 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) TGCAGGGCCAGGGCTGTGGTG 0.687 NaN 0 0 0 0.00245 0 14 89 NXPH1 30010 broad.mit.edu 37 7 8791209 8791209 + Missense_Mutation SNP T T C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:8791209T>C uc003srv.2 + 3 1537 c.626T>C c.(625-627)CTC>CCC p.L209P NXPH1_uc011jxh.1_Missense_Mutation_p.L92P NM_152745 NP_689958 P58417 NXPH1_HUMAN neurexophilin 1 precursor 209 V (Cys-rich). extracellular region ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) AAGAACACACTCTGCAACTAT 0.413 NaN 0 0 0 0.008291 0 10 72 HECW1 23072 broad.mit.edu 37 7 43484767 43484767 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:43484767G>A uc003tid.1 + 11 2601 c.1996G>A c.(1996-1998)GGG>AGG p.G666R HECW1_uc011kbi.1_Missense_Mutation_p.G666R NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 666 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CAGGCAAGGCGGGGACCACAG 0.692 NaN 0 0 0 0.001855 0 10 78 POM121 9883 broad.mit.edu 37 7 72413896 72413896 + Missense_Mutation SNP A A G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:72413896A>G uc003twk.2 + 11 3364 c.3364A>G c.(3364-3366)ACC>GCC p.T1122A POM121_uc003twj.2_Missense_Mutation_p.T857A|POM121_uc010lam.1_Missense_Mutation_p.T857A NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1122 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) AGGCTCCAGCACCACCACCGG 0.637 NaN 0 0 0 0.001168 0 5 72 SEMA3E 9723 broad.mit.edu 37 7 83035312 83035312 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:83035312C>T uc003uhy.1 - 8 1343 c.877G>A c.(877-879)GTT>ATT p.V293I NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 293 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) ACTGAGCAAACGAGTCTCGCT 0.348 NaN 0 0 0 0.01441 0 63 78 ZNF804B 219578 broad.mit.edu 37 7 88963539 88963539 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:88963539G>C uc011khi.1 + 4 1781 c.1243G>C c.(1243-1245)GAT>CAT p.D415H NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 415 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAAATCTTTAGATAAAACAGA 0.368 NaN HNSCC(36;0.09) 0 0 0 0.004482 0 9 94 SRRT 51593 broad.mit.edu 37 7 100485476 100485476 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:100485476C>T uc003uwy.2 + 18 2590 c.2322C>T c.(2320-2322)GCC>GCT p.A774A SRRT_uc010lhl.1_Silent_p.A773A|SRRT_uc003uxa.2_Silent_p.A773A|SRRT_uc003uwz.2_Silent_p.A774A NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 774 Pro-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 CTGGCCCCGCCCAGAGTAAGA 0.532 NaN 0 0 0 0.000602 0 5 150 WNT2 7472 broad.mit.edu 37 7 116960744 116960744 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:116960744G>A uc003viz.2 - 2 487 c.187C>T c.(187-189)CGT>TGT p.R63C WNT2_uc003vja.2_5'UTR NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 63 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CTAATGGCACGCATCACATCT 0.607 NaN 0 0 0 0.013726 0 35 6 OPN1SW 611 broad.mit.edu 37 7 128415628 128415628 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:128415628G>C uc003vnt.3 - 1 217 c.217C>G c.(217-219)CTG>GTG p.L73V NM_001708 NP_001699 P03999 OPSB_HUMAN opsin 1 (cone pigments), short-wave-sensitive 73 Helical; Name=2; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 ACGTTGACCAGAATGTAGTTG 0.537 NaN 0 0 0 0.01441 0 174 41 FLNC 2318 broad.mit.edu 37 7 128481267 128481267 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:128481267C>A uc003vnz.3 + 12 2066 c.1857C>A c.(1855-1857)GAC>GAA p.D619E FLNC_uc003voa.3_Missense_Mutation_p.D619E NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 619 Filamin 4. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TCGAATGTGACGACAAGGGGG 0.627 NaN 1 0 2.48551e-13 0.00499 2.66355e-13 15 191 C7orf33 202865 broad.mit.edu 37 7 148288208 148288208 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:148288208C>A uc003wew.2 + 1 552 c.191C>A c.(190-192)ACG>AAG p.T64K NM_145304 NP_660347 Q8WU49 CG033_HUMAN hypothetical protein LOC202865 64 central_nervous_system(1) 1 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) TCATATGCCACGGGAAGACAT 0.473 NaN 1 0 5.77035e-48 0.01441 6.66083e-48 101 27 MSR1 4481 broad.mit.edu 37 8 15978045 15978045 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:15978045G>T uc003wwz.2 - 9 1302 c.1104C>A c.(1102-1104)AGC>AGA p.S368R MSR1_uc010lsu.2_Missense_Mutation_p.S386R|MSR1_uc003wxa.2_Intron NM_138715 NP_619729 P21757 MSRE_HUMAN macrophage scavenger receptor 1 isoform type 1 368 SRCR.|Extracellular (Potential). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity ovary(1) 1 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CCCACTGGCCGCTGTGGAGTA 0.517 NaN 1 0 1.61004e-24 0.01441 1.79213e-24 49 10 KCNU1 157855 broad.mit.edu 37 8 36693884 36693884 + Splice_Site SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:36693884G>A uc010lvw.2 + 13 1452 c.1365_splice c.e13+1 p.K455_splice KCNU1_uc003xjw.2_Splice_Site NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCATAACAAGGTATAGTAACA 0.333 NaN 0 0 0 0.004672 0 3 21 ZFHX4 79776 broad.mit.edu 37 8 77763532 77763532 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:77763532C>T uc003yav.2 + 10 4627 c.4240C>T c.(4240-4242)CTA>TTA p.L1414L ZFHX4_uc003yau.1_Silent_p.L1459L|ZFHX4_uc003yaw.1_Silent_p.L1414L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1414 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACTTCAACAGCTATATGCCTC 0.493 NaN HNSCC(33;0.089) 0 0 0 0.001855 0 13 38 VPS13B 157680 broad.mit.edu 37 8 100443874 100443874 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:100443874G>A uc003yiv.2 + 22 3303 c.3192G>A c.(3190-3192)GTG>GTA p.V1064V VPS13B_uc003yiw.2_Silent_p.V1064V|VPS13B_uc003yiu.1_Silent_p.V1064V|VPS13B_uc003yix.1_Silent_p.V534V NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1064 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GGAATGCAGTGAAGCATCTCA 0.308 NaN 0 0 0 0.00499 0 18 54 PKHD1L1 93035 broad.mit.edu 37 8 110457235 110457235 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:110457235G>A uc003yne.2 + 38 5241 c.5137G>A c.(5137-5139)GAA>AAA p.E1713K NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1713 IPT/TIG 9.|Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATTGAATGTGAAACATCCCC 0.443 NaN HNSCC(38;0.096) 0 0 0 0.006214 0 9 283 CSMD3 114788 broad.mit.edu 37 8 114327003 114327003 + Silent SNP A A T rs148820468 TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:114327003A>T uc003ynu.2 - 2 357 c.198T>A c.(196-198)GGT>GGA p.G66G CSMD3_uc003ynt.2_Silent_p.G26G|CSMD3_uc011lhx.1_Silent_p.G66G|CSMD3_uc010mcx.1_Silent_p.G66G|CSMD3_uc003ynx.3_Silent_p.G66G NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 66 Extracellular (Potential).|CUB 1. 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 TTAAAGTTCCACCACATGTAT 0.313 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.00632 0 29 63 FAM84B 157638 broad.mit.edu 37 8 127569335 127569335 + Silent SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:127569335G>C uc003yrz.1 - 2 584 c.300C>G c.(298-300)GGC>GGG p.G100G NM_174911 NP_777571 Q96KN1 FA84B_HUMAN family with sequence similarity 84, member B 100 cytoplasm|plasma membrane protein binding 0 Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135) STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723) GCGCCGCCGAGCCCGGCGCGA 0.657 NaN 0 0 0 0.01441 0 48 21 PLEC 5339 broad.mit.edu 37 8 144992886 144992886 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:144992886C>G uc003zaf.1 - 32 11684 c.11514G>C c.(11512-11514)AGG>AGC p.R3838S PLEC_uc003zab.1_Missense_Mutation_p.R3701S|PLEC_uc003zac.1_Missense_Mutation_p.R3705S|PLEC_uc003zad.2_Missense_Mutation_p.R3701S|PLEC_uc003zae.1_Missense_Mutation_p.R3669S|PLEC_uc003zag.1_Missense_Mutation_p.R3679S|PLEC_uc003zah.2_Missense_Mutation_p.R3687S|PLEC_uc003zaj.2_Missense_Mutation_p.R3728S NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3838 Globular 2.|Plectin 17. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 TCAGTGTCTGCCTGGAACCGG 0.662 NaN 0 0 0 0.014323 0 22 88 GPT 2875 broad.mit.edu 37 8 145731256 145731256 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr8:145731256C>T uc011lli.1 + 7 922 c.765C>T c.(763-765)ATC>ATT p.I255I GPT_uc011llj.1_Silent_p.I255I|GPT_uc003zdh.3_Silent_p.I255I NM_005309 NP_005300 P24298 ALAT1_HUMAN glutamic pyruvate transaminase 255 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCGAGTGCATCGAGGCCGTGA 0.736 NaN 0 0 0 0.001168 0 5 12 DMRT2 10655 broad.mit.edu 37 9 1056399 1056399 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:1056399C>G uc003zha.2 + 4 1012 c.812C>G c.(811-813)CCC>CGC p.P271R DMRT2_uc003zgx.3_Missense_Mutation_p.P38R|DMRT2_uc010mgz.2_Missense_Mutation_p.P38R|DMRT2_uc003zgy.3_Missense_Mutation_p.P115R|DMRT2_uc003zhb.3_3'UTR|DMRT2_uc011llt.1_3'UTR|DMRT2_uc011llu.1_3'UTR|DMRT2_uc011llv.1_Missense_Mutation_p.P271R NM_181872 NP_870987 Q9Y5R5 DMRT2_HUMAN doublesex and mab-3 related transcription factor 271 male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09) Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388) CTGTTTCTGCCCAACCGCATG 0.473 NaN 0 0 0 0.010504 0 21 154 SMARCA2 6595 broad.mit.edu 37 9 2104016 2104016 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:2104016C>T uc003zhc.2 + 23 3238 c.3139C>T c.(3139-3141)CGG>TGG p.R1047W SMARCA2_uc003zhd.2_Missense_Mutation_p.R1047W|SMARCA2_uc010mha.2_Missense_Mutation_p.R980W NM_003070 NP_003061 P51531 SMCA2_HUMAN SWI/SNF-related matrix-associated 1047 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1) 3 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TGAACTGTATCGGGCCTCAGG 0.408 NaN 0 0 0 0.01441 0 120 93 C9orf123 90871 broad.mit.edu 37 9 7798477 7798477 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:7798477C>T uc003zki.2 - 2 393 c.349G>A c.(349-351)GTA>ATA p.V117I C9orf123_uc003zkj.2_3'UTR Q96GE9 CI123_HUMAN Homo sapiens cDNA FLJ46908 fis, clone FEBRA2004867. Error:Variant_position_missing_in_Q96GE9_after_alignment integral to membrane 0 all_cancers(3;0.0539)|Lung NSC(3;3.36e-05)|all_lung(3;0.000156)|all_epithelial(3;0.0356) GBM - Glioblastoma multiforme(50;0.0561) TGTCCATGTACAAGTGTCTGT 0.443 NaN 0 0 0 0.00245 0 15 29 TAF1L 138474 broad.mit.edu 37 9 32634258 32634258 + Missense_Mutation SNP G G C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:32634258G>C uc003zrg.1 - 1 1410 c.1320C>G c.(1318-1320)ATC>ATG p.I440M uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 440 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTTTGTGTTTGATATCCTCCC 0.468 NaN 0 0 0 0.01441 0 213 143 ANKS6 203286 broad.mit.edu 37 9 101536318 101536318 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:101536318C>T uc004ayu.2 - 9 1683 c.1662G>A c.(1660-1662)CTG>CTA p.L554L ANKS6_uc004ayt.2_Silent_p.L253L|ANKS6_uc004ayv.1_Silent_p.L16L|ANKS6_uc004ayw.1_Silent_p.L136L|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 554 ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) TGACTGCTTTCAGCTTGTCAC 0.582 NaN 0 0 0 0.007413 0 15 45 NEK6 10783 broad.mit.edu 37 9 127113225 127113225 + Silent SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:127113225G>A uc004bog.2 + 10 1090 c.941G>A c.(940-942)TGA>TAA p.*314* NEK6_uc004bof.2_Silent_p.*332*|NEK6_uc004boh.2_Silent_p.*348*|NEK6_uc010mwj.2_Silent_p.*267*|NEK6_uc010mwk.2_Silent_p.*314*|NEK6_uc004boi.2_Silent_p.*314*|LOC100129034_uc010mwl.2_5'Flank NM_014397 NP_055212 Q9HC98 NEK6_HUMAN NIMA-related kinase 6 isoform 2 314 apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition cytoplasm|nucleus ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity ovary(2)|kidney(1) 3 TCCAGCACCTGAGCGTGGATG 0.562 NaN 0 0 0 0.003954 0 25 41 RXRA 6256 broad.mit.edu 37 9 137328351 137328351 + Missense_Mutation SNP C C A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:137328351C>A uc004cfb.2 + 10 1442 c.1280C>A c.(1279-1281)TCC>TAC p.S427Y RXRA_uc004cfc.1_Missense_Mutation_p.S330Y NM_002957 NP_002948 P19793 RXRA_HUMAN retinoid X receptor, alpha 427 Ligand-binding. cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) GCTCTGCGCTCCATCGGGCTC 0.607 NaN 1 0 5.05997e-48 0.01441 5.85891e-48 73 47 COL5A1 1289 broad.mit.edu 37 9 137704337 137704337 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr9:137704337G>A uc004cfe.2 + 47 4115 c.3733G>A c.(3733-3735)GTG>ATG p.V1245M NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1245 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GACAGGAGACGTGGGCCAGAT 0.537 NaN 0 0 0 0.01441 0 45 35 DHRSX 207063 broad.mit.edu 37 X 2209621 2209621 + Missense_Mutation SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:2209621C>T uc004cqf.3 - 4 359 c.310G>A c.(310-312)GCT>ACT p.A104T NM_145177 NP_660160 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 104 binding|oxidoreductase activity 0 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GTCATGGAAGCCAAGTCACAG 0.398 NaN 0 0 0 0.01441 0 186 150 STS 412 broad.mit.edu 37 X 7175544 7175544 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:7175544C>T uc004cry.3 + 4 557 c.312C>T c.(310-312)TTC>TTT p.F104F NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 104 Lumenal. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) TTTTCCTCTTCACAGCCTCTT 0.498 NaN Ichthyosis 0 0 0 0.009096 0 4 69 MOSPD2 158747 broad.mit.edu 37 X 14932633 14932633 + Missense_Mutation SNP A A C TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:14932633A>C uc004cwi.2 + 11 1089 c.1001A>C c.(1000-1002)GAA>GCA p.E334A MOSPD2_uc004cwj.2_Missense_Mutation_p.E271A NM_152581 NP_689794 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 334 MSP. integral to membrane structural molecule activity lung(1) 1 Hepatocellular(33;0.183) AGCCCAGCAGAAGAACTGTAC 0.299 NaN 0 0 0 0.013726 0 31 2 RNF128 79589 broad.mit.edu 37 X 106038818 106038818 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:106038818C>G uc004eml.2 + 7 1412 c.1162C>G c.(1162-1164)CTA>GTA p.L388V RNF128_uc004emk.2_Missense_Mutation_p.L362V NM_194463 NP_919445 Q8TEB7 RN128_HUMAN ring finger protein 128 isoform 1 388 endomembrane system|integral to membrane|perinuclear region of cytoplasm zinc ion binding ovary(1)|central_nervous_system(1) 2 AGATGAAAGTCTACAGCTGGT 0.358 NaN 0 0 0 0.01441 0 48 54 ARHGEF6 9459 broad.mit.edu 37 X 135761777 135761777 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:135761777G>A uc004fab.2 - 16 2209 c.1747C>T c.(1747-1749)CCT>TCT p.P583S ARHGEF6_uc011mwd.1_Missense_Mutation_p.P456S|ARHGEF6_uc011mwe.1_Missense_Mutation_p.P429S NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 583 apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) ATAATTTGAGGAGGCTCCAAG 0.473 NaN 0 0 0 0.004482 0 7 143 SLC6A8 6535 broad.mit.edu 37 X 152959662 152959662 + Missense_Mutation SNP G G T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:152959662G>T uc004fib.3 + 9 1610 c.1332G>T c.(1330-1332)GAG>GAT p.E444D SLC6A8_uc004fic.3_Missense_Mutation_p.E434D|SLC6A8_uc011myx.1_Missense_Mutation_p.E329D|SLC6A8_uc010nuj.2_RNA NM_005629 NP_005620 P48029 SC6A8_HUMAN solute carrier family 6 member 8 isoform 1 444 Cytoplasmic (Potential). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) TCCAAAGGGAGATCTCTGTGG 0.607 NaN 1 0 2.9551e-36 0.01441 3.37984e-36 100 5 HCFC1 3054 broad.mit.edu 37 X 153236183 153236183 + Missense_Mutation SNP G G A TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:153236183G>A uc004fjp.2 - 1 637 c.109C>T c.(109-111)CGC>TGC p.R37C TMEM187_uc004fjq.2_5'Flank NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 37 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.R37C(1) ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCACGGCGCGGTGGCCGTGG 0.682 NaN 0 0 0 0.004007 0 13 4 FLNA 2316 broad.mit.edu 37 X 153588566 153588566 + Silent SNP C C T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:153588566C>T uc004fkk.2 - 22 3846 c.3597G>A c.(3595-3597)TCG>TCA p.S1199S FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.S1199S NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1199 Filamin 10. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) GCCCCGCCTCCGAGCAGATCT 0.677 NaN 0 0 0 0.004007 0 14 40 GAB3 139716 broad.mit.edu 37 X 153944442 153944442 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrX:153944442C>G uc004fmj.1 - 2 283 c.235G>C c.(235-237)GAA>CAA p.E79Q GAB3_uc004fmk.1_Missense_Mutation_p.E79Q|GAB3_uc010nve.1_Missense_Mutation_p.E79Q|GAB3_uc004fml.1_5'UTR NM_080612 NP_542179 Q8WWW8 GAB3_HUMAN Gab3 protein isoform 2 79 PH. ovary(1) 1 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TTCTGAAATTCCTTCCGAACA 0.502 NaN 0 0 0 0.01441 0 89 62 KDM5D 8284 broad.mit.edu 37 Y 21878276 21878276 + Missense_Mutation SNP C C G TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chrY:21878276C>G uc004fug.2 - 15 2208 c.1920G>C c.(1918-1920)AAG>AAC p.K640N KDM5D_uc011naz.1_Missense_Mutation_p.K671N|KDM5D_uc010nwy.2_Missense_Mutation_p.K583N|KDM5D_uc011nba.1_Missense_Mutation_p.K640N|KDM5D_uc004fuf.2_5'Flank NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform 640 chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) AGGCAGCCATCTTGCAGATGA 0.552 NaN 0 0 0 0.01441 0 48 4 RPL22 6146 broad.mit.edu 37 1 6257784 6257785 + Frame_Shift_Ins INS - - T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr1:6257784_6257785insT uc001amd.2 - 2 90_91 c.44_45insA c.(43-45)AAGfs p.K15fs RPL22_uc001ame.2_Frame_Shift_Ins_p.K15fs NM_000983 NP_000974 P35268 RL22_HUMAN ribosomal protein L22 proprotein 15 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit heparin binding|RNA binding|structural constituent of ribosome 0 Ovarian(185;0.0634) all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211) Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182) GAACTTGCTTCTTTTTTTTGCC 0.401 NaN T RUNX1 AML|CML NaN NaN NaN NaN NaN 38 20 --- --- FREM2 341640 broad.mit.edu 37 13 39261881 39261881 + Frame_Shift_Del DEL G G - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr13:39261881delG uc001uwv.2 + 1 709 c.400delG c.(400-402)GGCfs p.G134fs NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 134 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CTTTGGCCCTGGCGAGGTGCG 0.716 NaN NaN NaN NaN NaN NaN 9 17 --- --- KRT10 3858 broad.mit.edu 37 17 38978766 38978768 + In_Frame_Del DEL TCC TCC - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr17:38978766_38978768delTCC uc002hvi.2 - 1 96_98 c.70_72delGGA c.(70-72)GGAdel p.G24del KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 24 Head.|Gly-rich. Missing (in Ref. 1; AAA60544). epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) ctcctccacatcctcctcctcct 0.409 NaN NaN NaN NaN NaN NaN 7 91 --- --- LRFN2 57497 broad.mit.edu 37 6 40400554 40400557 + Frame_Shift_Del DEL TCGA TCGA - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:40400554_40400557delTCGA uc003oph.1 - 2 761_764 c.296_299delTCGA c.(295-300)CTCGAGfs p.L99fs NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 99_100 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GCGGAGGCTCTCGAGGTCCAGAAA 0.603 NaN NaN NaN NaN NaN NaN 14 37 --- --- PRIM2 5558 broad.mit.edu 37 6 57512916 57512917 + Splice_Site INS - - T TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr6:57512916_57512917insT uc003pdx.2 + 16 1839 c.1752_splice c.e16+1 NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) ttttttttcaattttttttgta 0 NaN NaN NaN NaN NaN NaN 4 7 --- --- FAM126A 84668 broad.mit.edu 37 7 23004031 23004040 + Splice_Site DEL TACAAGGCAA TACAAGGCAA - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:23004031_23004040delTACAAGGCAA uc003svm.3 - 8 998 c.743_splice c.e8+1 p.F248_splice FAM126A_uc003svn.3_Splice_Site_p.F104_splice NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 ATGAGATACTTACAAGGCAAAATAAATCCC 0.3 NaN NaN NaN NaN NaN NaN 32 34 --- --- GAL3ST4 79690 broad.mit.edu 37 7 99758558 99758560 + In_Frame_Del DEL TGT TGT - TCGA-FJ-A3ZF-01A-11D-A23M-08 TCGA-FJ-A3ZF-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 55331efe-b1a3-410f-822f-d2512e1768a5 35abd07a-1ed0-4bf2-835d-043a633fcb80 g.chr7:99758558_99758560delTGT uc003utt.2 - 3 1469_1471 c.452_454delACA c.(451-456)GACAGC>GGC p.151_152DS>G C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_In_Frame_Del_p.151_152DS>G|GAL3ST4_uc010lgq.2_In_Frame_Del_p.89_90DS>G NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 151_152 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AAAAAGAAGCTGTCAGAAGGCAT 0.512 NaN NaN NaN NaN NaN NaN 37 64 --- ---