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 CDK11A 728642 broad.mit.edu 37 1 1636296 1636296 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:1636296C>T uc010nyt.1 - 13 1613 c.1505G>A c.(1504-1506)CGA>CAA p.R502Q CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_5'UTR|CDK11A_uc009vkp.2_Intron|CDK11A_uc009vkq.2_Intron|CDK11A_uc009vkr.2_Intron|CDK11A_uc009vks.2_Intron|CDK11A_uc010nys.1_Intron Q9UQ88 CD11A_HUMAN SubName: Full=cDNA FLJ56415, highly similar to PITSLRE serine/threonine-protein kinase CDC2L1 (EC 2.7.11.22); Error:Variant_position_missing_in_Q9UQ88_after_alignment apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding stomach(1) 1 GGGGCCCTGTCGGAAAAGCCT 0.607 HES5 388585 broad.mit.edu 37 1 2461382 2461382 + Silent SNP C G G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:2461382C>G uc001ajn.2 - 2 204 c.123G>C c.(121-123)CTG>CTC p.L41L NM_001010926 NP_001010926 Q5TA89 HES5_HUMAN hairy and enhancer of split 5 41 Helix-loop-helix motif. transcription, DNA-dependent nucleus 0 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) GCTCCAGCAGCAGCTTCAGCT 0.647 PTPRF 5792 broad.mit.edu 37 1 44085120 44085120 + Missense_Mutation SNP C A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:44085120C>A uc001cjr.2 + 28 5148 c.4808C>A c.(4807-4809)GCG>GAG p.A1603E PTPRF_uc001cjs.2_Missense_Mutation_p.A1594E|PTPRF_uc001cju.2_Missense_Mutation_p.A992E|PTPRF_uc009vwt.2_Missense_Mutation_p.A1163E|PTPRF_uc001cjv.2_Missense_Mutation_p.A1074E|PTPRF_uc001cjw.2_Missense_Mutation_p.A829E NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1603 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATCCATGAGGCGCTGCTGGAG 0.607 KANK4 163782 broad.mit.edu 37 1 62728946 62728946 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:62728946C>T uc001dah.3 - 7 2734 c.2357G>A c.(2356-2358)CGC>CAC p.R786H KANK4_uc001dai.3_Missense_Mutation_p.R158H|KANK4_uc001daf.3_5'UTR|KANK4_uc001dag.3_Missense_Mutation_p.R142H NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 786 R -> H (in Ref. 1; BAC03774). ovary(3)|skin(2)|lung(1) 6 GCTGGAGACGCGGAACCACTC 0.562 CSDE1 7812 broad.mit.edu 37 1 115272925 115272925 + Missense_Mutation SNP G C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:115272925G>C uc001efk.2 - 12 1776 c.1310C>G c.(1309-1311)ACT>AGT p.T437S CSDE1_uc001efi.2_Missense_Mutation_p.T483S|CSDE1_uc001efj.2_RNA|CSDE1_uc001efl.2_Missense_Mutation_p.T406S|CSDE1_uc001efm.2_Missense_Mutation_p.T452S|CSDE1_uc009wgv.2_Missense_Mutation_p.T437S|CSDE1_uc001efn.2_Missense_Mutation_p.T406S NM_001007553 NP_001007554 O75534 CSDE1_HUMAN upstream of NRAS isoform 1 437 male gonad development|regulation of transcription, DNA-dependent cytoplasm DNA binding|protein binding|RNA binding ovary(1) 1 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ATTGGAAAAAGTGGCTTCTTT 0.378 F11R 50848 broad.mit.edu 37 1 160970003 160970003 + Missense_Mutation SNP G A A rs144844671 by1000genomes TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:160970003G>A uc009wtt.2 - 5 794 c.524C>T c.(523-525)ACG>ATG p.T175M F11R_uc010pjv.1_Missense_Mutation_p.T126M|F11R_uc001fxe.3_Missense_Mutation_p.T175M|F11R_uc009wtu.2_Missense_Mutation_p.T175M|F11R_uc010pjw.1_Missense_Mutation_p.T179M|F11R_uc001fxf.3_Missense_Mutation_p.T175M NM_016946 NP_058642 Q9Y624 JAM1_HUMAN F11 receptor precursor 175 Ig-like V-type 2.|Extracellular (Potential). blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly integral to membrane|tight junction ovary(2) 2 all_cancers(52;6.73e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00207) TTTGGGATTCGTAGGCATCAC 0.517 LAMC1 3915 broad.mit.edu 37 1 183101569 183101569 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:183101569G>A uc001gpy.3 + 21 3858 c.3601G>A c.(3601-3603)GCA>ACA p.A1201T NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 1201 Potential.|Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTTCGAGTGGCAAAGACAGC 0.388 ZC3H11A 9877 broad.mit.edu 37 1 203818961 203818961 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:203818961G>A uc001hac.2 + 17 2362 c.1746G>A c.(1744-1746)CGG>CGA p.R582R ZC3H11A_uc001had.2_Silent_p.R582R|ZC3H11A_uc001hae.2_Silent_p.R582R|ZC3H11A_uc001haf.2_Silent_p.R582R|ZC3H11A_uc010pqm.1_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R NM_014827 NP_055642 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 582 nucleic acid binding|protein binding|zinc ion binding lung(1)|central_nervous_system(1) 2 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CACCTCTTCGGGGAGATGTAG 0.493 CEP170 9859 broad.mit.edu 37 1 243362438 243362438 + Silent SNP A G G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr1:243362438A>G uc001hzs.2 - 7 963 c.555T>C c.(553-555)GAT>GAC p.D185D CEP170_uc001hzt.2_Silent_p.D185D|CEP170_uc001hzu.2_Silent_p.D185D NM_014812 NP_055627 Q5SW79 CE170_HUMAN centrosomal protein 170kDa isoform alpha 185 centriole|microtubule|spindle ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 all_neural(11;0.101) all_cancers(173;0.003) all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101) CCACCTCATCATCCCCCCACC 0.428 ALDH18A1 5832 broad.mit.edu 37 10 97396856 97396856 + Silent SNP A T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr10:97396856A>T uc001kkz.2 - 5 794 c.552T>A c.(550-552)GCT>GCA p.A184A ALDH18A1_uc001kky.2_Silent_p.A184A|ALDH18A1_uc010qog.1_Silent_p.A73A|ALDH18A1_uc010qoh.1_Intron NM_002860 NP_002851 P54886 P5CS_HUMAN pyrroline-5-carboxylate synthetase isoform 1 184 Glutamate 5-kinase. proline biosynthetic process mitochondrial inner membrane ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity pancreas(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0402) Epithelial(162;9.1e-07)|all cancers(201;2.55e-05) L-Glutamic Acid(DB00142) TCACCTGGGCAGCACAGATGC 0.458 ADAM8 101 broad.mit.edu 37 10 135084467 135084467 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr10:135084467G>A uc010qva.1 - 13 1416 c.1365C>T c.(1363-1365)AAC>AAT p.N455N ADAM8_uc010quz.1_Silent_p.N494N|ADAM8_uc009ybi.2_Silent_p.N494N P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 455 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) AGGGCGTGCCGTTCTCCTGGA 0.667 C11orf35 256329 broad.mit.edu 37 11 558885 558885 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:558885G>A uc001lpx.2 - 2 192 c.129C>T c.(127-129)CCC>CCT p.P43P uc001lpy.2_RNA|uc001lpz.2_5'Flank|RASSF7_uc001lqa.2_5'Flank|RASSF7_uc001lqb.2_5'Flank|RASSF7_uc001lqc.2_5'Flank|RASSF7_uc001lqd.2_5'Flank NM_173573 NP_775844 Q8IXW0 CK035_HUMAN hypothetical protein LOC256329 43 pancreas(1) 1 all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) CCACCGGTGCGGGGTGGGGCG 0.692 OR51E2 81285 broad.mit.edu 37 11 4703127 4703127 + Missense_Mutation SNP C T T rs138231892 TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:4703127C>T uc001lzk.2 - 2 1059 c.815G>A c.(814-816)CGT>CAT p.R272H NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CATGACAACACGCACAATGGG 0.507 OR52N4 390072 broad.mit.edu 37 11 5776764 5776764 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:5776764G>A uc001mbu.2 + 1 842 c.794G>A c.(793-795)CGC>CAC p.R265H TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 265 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) TTTTCCCACCGCTTTGGGGAA 0.468 OR8I2 120586 broad.mit.edu 37 11 55861299 55861299 + Missense_Mutation SNP C A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:55861299C>A uc010rix.1 + 1 516 c.516C>A c.(514-516)AGC>AGA p.S172R NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) GTGATTCCAGCATCAATCATT 0.448 TBC1D10C 374403 broad.mit.edu 37 11 67177159 67177159 + Frame_Shift_Del DEL C - - TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:67177159delC uc001ola.2 + 10 1304 c.1275delC c.(1273-1275)GGCfs p.G425fs PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.2_3'UTR|TBC1D10C_uc001olb.2_RNA NM_198517 NP_940919 Q8IV04 TB10C_HUMAN TBC1 domain family, member 10C 425 Interaction with calcineurin. intracellular Rab GTPase activator activity 0 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GGGCCCGGGGCCCCCCCATCG 0.682 ST14 6768 broad.mit.edu 37 11 130069857 130069857 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr11:130069857C>T uc001qfw.2 + 16 2012 c.1819C>T c.(1819-1821)CGG>TGG p.R607W NM_021978 NP_068813 Q9Y5Y6 ST14_HUMAN matriptase 607 Extracellular (Potential). proteolysis integral to plasma membrane serine-type endopeptidase activity ovary(2)|skin(2)|central_nervous_system(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) CTGTGGGCTGCGGTCATTCAC 0.612 FOXJ2 55810 broad.mit.edu 37 12 8201337 8201337 + Missense_Mutation SNP A G G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:8201337A>G uc001qtu.2 + 8 2355 c.1270A>G c.(1270-1272)AGC>GGC p.S424G FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G NM_018416 NP_060886 Q9P0K8 FOXJ2_HUMAN forkhead box J2 424 embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development nucleolus|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 Kidney(36;0.0944) TTTAAAGGAAAGCTTCAAGAT 0.428 CACNB3 784 broad.mit.edu 37 12 49217552 49217552 + Missense_Mutation SNP A G G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:49217552A>G uc001rsl.1 + 3 458 c.257A>G c.(256-258)AAC>AGC p.N86S CACNB3_uc010slx.1_Missense_Mutation_p.N73S|CACNB3_uc010sly.1_Missense_Mutation_p.N73S|CACNB3_uc010slz.1_Missense_Mutation_p.N85S|CACNB3_uc001rsk.1_5'UTR NM_000725 NP_000716 P54284 CACB3_HUMAN calcium channel, voltage-dependent, beta 3 86 SH3. axon guidance|membrane depolarization|synaptic transmission cytosol|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 Verapamil(DB00661) TCTGGAGTCAACTTTGAGGCC 0.493 ESPL1 9700 broad.mit.edu 37 12 53662942 53662942 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:53662942G>A uc001sck.2 + 3 307 c.216G>A c.(214-216)GGG>GGA p.G72G ESPL1_uc001scj.2_5'UTR NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 72 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 GGCATCTGGGGAGCCTGCTGG 0.567 NEDD1 121441 broad.mit.edu 37 12 97345747 97345747 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:97345747G>A uc001teu.3 + 16 2238 c.1899G>A c.(1897-1899)CTG>CTA p.L633L NEDD1_uc001tev.3_Silent_p.L633L|NEDD1_uc010svc.1_Silent_p.L544L|NEDD1_uc001tew.2_Silent_p.L640L|NEDD1_uc001tex.2_Silent_p.L544L NM_152905 NP_690869 Q8NHV4 NEDD1_HUMAN neural precursor cell expressed, developmentally 633 cell division|G2/M transition of mitotic cell cycle|mitosis cytosol 0 ATTCTTTGCTGGAAAGATACT 0.323 ATXN2 6311 broad.mit.edu 37 12 111895056 111895056 + Nonsense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:111895056G>A uc001tsj.2 - 22 3640 c.3478C>T c.(3478-3480)CAA>TAA p.Q1160* ATXN2_uc001tsh.2_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.2_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.2_RNA|ATXN2_uc001tsg.2_Nonsense_Mutation_p.Q348*|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161* NM_002973 NP_002964 Q99700 ATX2_HUMAN ataxin 2 1160 cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network protein C-terminus binding|RNA binding ovary(1)|breast(1) 2 CCACCATGTTGGCTTTGCTGC 0.552 FZD10 11211 broad.mit.edu 37 12 130648665 130648665 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr12:130648665C>T uc001uii.2 + 1 1634 c.1178C>T c.(1177-1179)GCG>GTG p.A393V uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 393 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GACGTCAACGCGCTCACCGGC 0.657 CYP46A1 10858 broad.mit.edu 37 14 100166408 100166408 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr14:100166408G>A uc001ygo.2 + 5 413 c.413G>A c.(412-414)CGG>CAG p.R138Q CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 138 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) CACAAGCAGCGGAGAGTCATA 0.592 AHNAK2 113146 broad.mit.edu 37 14 105410901 105410901 + Missense_Mutation SNP C A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr14:105410901C>A uc010axc.1 - 7 11007 c.10887G>T c.(10885-10887)AAG>AAT p.K3629N AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3629 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGTCACGTCCTTGTCAGCCA 0.597 AHNAK2 113146 broad.mit.edu 37 14 105418389 105418389 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr14:105418389G>A uc010axc.1 - 7 3519 c.3399C>T c.(3397-3399)GTC>GTT p.V1133V AHNAK2_uc001ypx.2_Silent_p.V1033V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1133 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CCGGGGCCTCGACGTCCACCT 0.632 OR4N4 283694 broad.mit.edu 37 15 22332433 22332433 + Translation_Start_Site SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr15:22332433G>A uc001yuc.1 + 3 240 c.-741G>A c.(-743--739)ACGTG>ACATG LOC727924_uc001ytz.1_Intron|LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) AGATTCTAACGTGACAGAACT 0.328 DUOX2 50506 broad.mit.edu 37 15 45393418 45393418 + Missense_Mutation SNP C T T rs146664125 byFrequency TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr15:45393418C>T uc010bea.2 - 22 3109 c.2906G>A c.(2905-2907)CGG>CAG p.R969Q DUOX2_uc001zun.2_Missense_Mutation_p.R969Q NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN dual oxidase 2 precursor 969 Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity ovary(2)|skin(2)|pancreas(1) 5 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) CCCAGGTGTCCGAGTGATGAA 0.547 CCPG1 9236 broad.mit.edu 37 15 55652558 55652559 + Frame_Shift_Ins INS - C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr15:55652558_55652559insC uc002acv.1 - 8 1577_1578 c.1412_1413insG c.(1411-1413)GGCfs p.G471fs CCPG1_uc002acy.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.1_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acw.1_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.2_Intron|CCPG1_uc010bfk.1_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acz.1_Frame_Shift_Ins_p.G471fs NM_020739 NP_065790 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 isoform 2 471 Lumenal (Potential). cell cycle integral to membrane ovary(1) 1 all cancers(107;0.0354) GGCTTCCTCTGCCCCCTTTCTT 0.391 GFOD2 81577 broad.mit.edu 37 16 67709764 67709764 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr16:67709764C>T uc002eub.2 - 3 747 c.452G>A c.(451-453)CGC>CAC p.R151H GFOD2_uc002eua.1_RNA|GFOD2_uc002euc.2_Missense_Mutation_p.R46H NM_030819 NP_110446 Q3B7J2 GFOD2_HUMAN glucose-fructose oxidoreductase domain 151 proteinaceous extracellular matrix binding|oxidoreductase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242) TGAGTAGATGCGGGCATCACA 0.592 CBFA2T3 863 broad.mit.edu 37 16 88945788 88945788 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr16:88945788C>T uc002fmm.1 - 11 1738 c.1552G>A c.(1552-1554)GAG>AAG p.E518K CBFA2T3_uc002fml.1_Missense_Mutation_p.E432K|CBFA2T3_uc002fmk.1_Missense_Mutation_p.E17K NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 518 Potential. E -> K (in a colorectal cancer sample; somatic mutation). cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E518K(1) large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) GTGATGAGCTCGTGCGCTTTG 0.657 T RUNX1 AML GPR179 440435 broad.mit.edu 37 17 36499303 36499303 + Missense_Mutation SNP C G G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr17:36499303C>G uc002hpz.2 - 1 391 c.370G>C c.(370-372)GAG>CAG p.E124Q NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 124 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) ACATCCTCCTCCACACTGGAC 0.627 C18orf45 85019 broad.mit.edu 37 18 20889650 20889650 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr18:20889650G>A uc002kuf.2 - 14 933 c.824C>T c.(823-825)ACG>ATG p.T275M C18orf45_uc010xaq.1_RNA|C18orf45_uc010xar.1_RNA|C18orf45_uc002kug.2_RNA|C18orf45_uc002kuh.2_RNA|C18orf45_uc002kue.2_RNA NM_032933 NP_116322 Q24JQ0 CR045_HUMAN hypothetical protein LOC85019 275 Helical; (Potential). integral to membrane 0 all_cancers(21;0.000238)|all_epithelial(16;5.29e-06)|Lung NSC(20;0.00925)|Colorectal(14;0.0202)|all_lung(20;0.0255)|Ovarian(20;0.127) TTACCATCCCGTGGTTGCACT 0.403 MIER2 54531 broad.mit.edu 37 19 307371 307371 + Missense_Mutation SNP T C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr19:307371T>C uc002lok.1 - 13 1373 c.1364A>G c.(1363-1365)TAC>TGC p.Y455C NM_017550 NP_060020 Q8N344 MIER2_HUMAN mesoderm induction early response 1, family 455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTGGCTGGTATGAGGCTGG 0.687 CHAF1A 10036 broad.mit.edu 37 19 4409704 4409704 + Missense_Mutation SNP C A A rs150305585 TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr19:4409704C>A uc002mal.2 + 3 1008 c.908C>A c.(907-909)CCA>CAA p.P303Q NM_005483 NP_005474 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 303 Binds to CBX1 chromo shadow domain. cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding ovary(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGCTCCCCCAAAGCAGCAC 0.612 Chromatin_Structure PLEKHG2 64857 broad.mit.edu 37 19 39913972 39913972 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr19:39913972G>A uc010xuz.1 + 18 2603 c.2278G>A c.(2278-2280)GCA>ACA p.A760T PLEKHG2_uc010xuy.1_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.2_Intron|PLEKHG2_uc010xva.1_Missense_Mutation_p.A538T NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 760 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGATGAGCTGGCATTCCGCTC 0.597 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A G G rs115341812 by1000genomes TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 TTN 7273 broad.mit.edu 37 2 179442793 179442793 + Nonsense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:179442793G>A uc010zfg.1 - 271 60969 c.60745C>T c.(60745-60747)CGA>TGA p.R20249* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.R13944*|TTN_uc010zfi.1_Nonsense_Mutation_p.R13877*|TTN_uc010zfj.1_Nonsense_Mutation_p.R13752*|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21176 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) GCCATAACTCGGAATTCATAT 0.423 KCTD18 130535 broad.mit.edu 37 2 201371625 201371625 + Missense_Mutation SNP C A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:201371625C>A uc002uvs.2 - 2 632 c.115G>T c.(115-117)GCA>TCA p.A39S KCTD18_uc002uvt.2_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S NM_152387 NP_689600 Q6PI47 KCD18_HUMAN potassium channel tetramerization domain 39 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 AACATAGATGCCAACATGGAG 0.458 PARD3B 117583 broad.mit.edu 37 2 205986432 205986432 + Silent SNP T C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:205986432T>C uc002var.1 + 8 1131 c.924T>C c.(922-924)GGT>GGC p.G308G PARD3B_uc010fub.1_Silent_p.G308G|PARD3B_uc002vao.1_Silent_p.G308G|PARD3B_uc002vap.1_Silent_p.G308G|PARD3B_uc002vaq.1_Silent_p.G308G NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 308 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) ACATTTTTGGTAATAATGATG 0.453 ALPP 250 broad.mit.edu 37 2 233244353 233244353 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr2:233244353G>A uc002vsq.2 + 4 605 c.440G>A c.(439-441)CGC>CAC p.R147H ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 147 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) AACACGACACGCGGCAACGAG 0.607 TGM3 7053 broad.mit.edu 37 20 2320632 2320632 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr20:2320632G>A uc002wfx.3 + 12 2030 c.1933G>A c.(1933-1935)GAC>AAC p.D645N NM_003245 NP_003236 Q08188 TGM3_HUMAN transglutaminase 3 precursor 645 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(4)|ovary(3)|breast(1)|skin(1) 9 L-Glutamine(DB00130) CCTGAAGATCGAGTGAGTCCT 0.642 SEMG1 6406 broad.mit.edu 37 20 43836470 43836470 + Missense_Mutation SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr20:43836470G>A uc002xni.2 + 2 589 c.532G>A c.(532-534)GTC>ATC p.V178I SEMG1_uc002xnj.2_Missense_Mutation_p.V178I|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Missense_Mutation_p.V178I NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 178 42 AA repeat 1. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) ACAAACTTCCGTCTCTGGTGC 0.423 KRTAP6-1 337966 broad.mit.edu 37 21 31986055 31986055 + Missense_Mutation SNP A T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr21:31986055A>T uc002yop.2 - 1 169 c.169T>A c.(169-171)TGT>AGT p.C57S KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 57 cytosol|intermediate filament 0 CCATAGCCACAGAGGGAGCGG 0.567 MYH9 4627 broad.mit.edu 37 22 36689392 36689392 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr22:36689392C>T uc003apg.2 - 30 4309 c.4078G>A c.(4078-4080)GCC>ACC p.A1360T NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 1360 Potential. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 TGGAGGGTGGCGATCTGCTTC 0.662 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated HES1 3280 broad.mit.edu 37 3 193855643 193855643 + Missense_Mutation SNP A C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr3:193855643A>C uc003ftq.1 + 4 700 c.464A>C c.(463-465)TAC>TCC p.Y155S NM_005524 NP_005515 Q14469 HES1_HUMAN hairy and enhancer of split 1 155 endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity ovary(1)|lung(1) 2 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) GCCATGACCTACCCCGGGCAG 0.731 PLCXD3 345557 broad.mit.edu 37 5 41313846 41313846 + Missense_Mutation SNP A T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr5:41313846A>T uc003jmm.1 - 3 941 c.839T>A c.(838-840)GTC>GAC p.V280D NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 280 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 CTGCGTGCGGACCCACTGCAT 0.433 NMUR2 56923 broad.mit.edu 37 5 151784217 151784217 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr5:151784217C>T uc003luv.2 - 1 624 c.458G>A c.(457-459)CGC>CAC p.R153H NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 153 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) CAGTTTGGCGCGGAACGGGTG 0.637 DOCK2 1794 broad.mit.edu 37 5 169508958 169508958 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr5:169508958G>A uc003maf.2 + 51 5480 c.5400G>A c.(5398-5400)CGG>CGA p.R1800R DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.R1292R|DOCK2_uc003mah.2_Silent_p.R356R NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1800 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CACTCACACGGAAGAAGGTCA 0.527 C6orf195 154386 broad.mit.edu 37 6 2623743 2623743 + Missense_Mutation SNP G C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:2623743G>C uc003mtw.2 - 3 1299 c.314C>G c.(313-315)GCC>GGC p.A105G NM_152554 NP_689767 Q96MT4 CF195_HUMAN hypothetical protein LOC154386 105 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) GCAGGGAGTGGCCTGGTCACT 0.547 LRRC1 55227 broad.mit.edu 37 6 53784332 53784332 + Missense_Mutation SNP G C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:53784332G>C uc003pcd.1 + 12 1420 c.1143G>C c.(1141-1143)AAG>AAC p.K381N NM_018214 NP_060684 Q9BTT6 LRRC1_HUMAN leucine rich repeat containing 1 381 cytoplasm|membrane ovary(1) 1 Lung NSC(77;0.0147) BRCA - Breast invasive adenocarcinoma(397;0.0745) CTGCCTTGAAGTTGAAGGCTC 0.398 AKD1 221264 broad.mit.edu 37 6 109993332 109993332 + Missense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:109993332C>T uc003ptn.2 - 4 297 c.220G>A c.(220-222)GAA>AAA p.E74K AKD1_uc003ptr.3_Missense_Mutation_p.E74K|AKD1_uc003pts.1_RNA NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 74 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 ACTCCTGATTCGGTTTCAGCA 0.279 VNN1 8876 broad.mit.edu 37 6 133005540 133005540 + Silent SNP G A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr6:133005540G>A uc003qdo.2 - 6 1313 c.1293C>T c.(1291-1293)TTC>TTT p.F431F VNN1_uc003qdn.2_RNA NM_004666 NP_004657 O95497 VNN1_HUMAN vanin 1 precursor 431 acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity ovary(3) 3 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) ACTGGGTTCCGAAAGTGCCAC 0.418 C7orf28A 51622 broad.mit.edu 37 7 5959509 5959509 + Nonsense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:5959509C>T uc003spf.2 + 12 1108 c.1018C>T c.(1018-1020)CGA>TGA p.R340* NM_015622 NP_056437 P86791 CCZ1_HUMAN hypothetical protein LOC51622 340 lysosomal membrane 0 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)|OV - Ovarian serous cystadenocarcinoma(56;7.91e-15) GGATTTTTGCCGAAGACTGGA 0.468 EGFR 1956 broad.mit.edu 37 7 55210077 55210078 + Missense_Mutation DNP GG AA AA TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:55210077_55210078GG>AA uc003tqk.2 + 2 433_434 c.187_188GG>AA c.(187-189)GGG>AAG p.G63K EGFR_uc003tqh.2_Missense_Mutation_p.G63K|EGFR_uc003tqi.2_Missense_Mutation_p.G63K|EGFR_uc003tqj.2_Missense_Mutation_p.G63K|EGFR_uc010kzg.1_Missense_Mutation_p.G63K|EGFR_uc011kco.1_Missense_Mutation_p.G10K NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 63 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5)|p.G63R(1) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGTGGTCCTTGGGAATTTGGAA 0.396 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) STEAP1 26872 broad.mit.edu 37 7 89794038 89794038 + Missense_Mutation SNP C A A TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:89794038C>A uc003ujx.2 + 5 1210 c.1010C>A c.(1009-1011)TCC>TAC p.S337Y STEAP2_uc003ujy.2_5'Flank NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 337 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) GAGATATGTTCCCAGTTGTAG 0.299 LHFPL3 375612 broad.mit.edu 37 7 104377161 104377161 + Missense_Mutation SNP G C C TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr7:104377161G>C uc003vce.2 + 2 609 c.485G>C c.(484-486)GGC>GCC p.G162A LHFPL3_uc003vcf.2_Missense_Mutation_p.G162A NM_199000 NP_945351 Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 148 integral to membrane 0 TTCCCTGATGGCTGGGACTCA 0.418 DAB2IP 153090 broad.mit.edu 37 9 124538504 124538504 + Nonsense_Mutation SNP C T T TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chr9:124538504C>T uc004bln.2 + 14 3133 c.3064C>T c.(3064-3066)CGA>TGA p.R1022* DAB2IP_uc004blo.2_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.2_Nonsense_Mutation_p.R455* NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform 1050 Potential. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 GGACAAGCTGCGAATCTCCAC 0.622 MAGEB18 286514 broad.mit.edu 37 X 26157310 26157310 + Missense_Mutation SNP A G G TCGA-19-2624-01A-01D-1495-08 TCGA-19-2624-10A-01D-1495-08 Somatic Phase_I Capture Illumina GAIIx a8f86b64-914c-4d89-897b-33bcdd1759f7 f9b76b10-6585-4724-a373-3c7915d15bff g.chrX:26157310A>G uc004dbq.1 + 2 395 c.208A>G c.(208-210)ACC>GCC p.T70A NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 70 protein binding central_nervous_system(1) 1 AGCCCCATCCACCACCAATGC 0.532