Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut CELF4 56853 broad.mit.edu 37 18 34833849 34833849 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr18:34833849C>T ENST00000420428.2 - 12 1781 c.1386G>A c.(1384-1386)atG>atA p.M462I CELF4_ENST00000591282.1_Missense_Mutation_p.M462I|CELF4_ENST00000590011.1_5'UTR|CELF4_ENST00000361795.5_Missense_Mutation_p.M460I|CELF4_ENST00000603232.1_Missense_Mutation_p.M461I|CELF4_ENST00000412753.1_Missense_Mutation_p.M461I|CELF4_ENST00000591287.1_Missense_Mutation_p.M460I|CELF4_ENST00000601019.1_Missense_Mutation_p.M460I|CELF4_ENST00000334919.5_Missense_Mutation_p.M424I NM_020180.3 NP_064565.1 Q9BZC1 CELF4_HUMAN CUGBP, Elav-like family member 4 462 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 44 GGAAGCCGTTCATGGCCTGGA 0.692000 9 75 0 0 0.010729 0 0 SF3B1 23451 broad.mit.edu 37 2 198299715 198299715 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:198299715C>T ENST00000335508.5 - 1 100 c.9G>A c.(7-9)aaG>aaA p.K3K SF3B1_ENST00000487698.1_Silent_p.K3K|SF3B1_ENST00000409915.4_Silent_p.K3K|SF3B1_ENST00000414963.2_Silent_p.K3K NM_012433.2 NP_036565.2 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1, 155kDa 3 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 633 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCTTGGCGATCTTCGCCATTT 0.517000 Mis myelodysplastic syndrome 5 62 0 0 0.014758 0 0 RBM4 5936 broad.mit.edu 37 11 66407347 66407347 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:66407347G>A ENST00000409406.1 + 1 942 c.165G>A c.(163-165)ctG>ctA p.L55L RBM4_ENST00000530235.1_Silent_p.L55L|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000408993.2_Silent_p.L55L|RBM4_ENST00000483858.1_Silent_p.L55L|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000398692.4_Silent_p.L55L|RBM4_ENST00000396053.4_Silent_p.L55L|RBM4_ENST00000503028.2_Silent_p.L55L|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000506523.2_Silent_p.L55L|RBM4_ENST00000310092.7_Silent_p.L55L|RBM4_ENST00000532968.1_Silent_p.L55L|RBM4_ENST00000578778.1_Silent_p.L55L RNA binding motif protein 4 endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) TACGCAACCTGCACCATTACA 0.478000 20 168 0 0 0.030593 0 0 DNAJB13 374407 broad.mit.edu 37 11 73681032 73681032 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:73681032G>A ENST00000339764.1 + 8 1575 c.824G>A c.(823-825)gGg>gAg p.G275E DNAJB13_ENST00000543947.1_Missense_Mutation_p.G100E|DNAJB13_ENST00000537753.1_Missense_Mutation_p.G100E|RP11-167N4.2_ENST00000537019.1_RNA NM_153614.2 NP_705842.2 P59910 DJB13_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 13 275 apoptosis|protein folding|spermatogenesis heat shock protein binding|unfolded protein binding large_intestine(3)|lung(2) 5 Breast(11;7.42e-05) AAGGTGCCAGGGGAGGGGATG 0.542000 10 162 0 0 0.010729 0 0 CEP78 84131 broad.mit.edu 37 9 80858414 80858414 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:80858414G>A ENST00000424347.2 + 5 929 c.640G>A c.(640-642)Gag>Aag p.E214K CEP78_ENST00000415759.2_Missense_Mutation_p.E214K|CEP78_ENST00000376597.4_Missense_Mutation_p.E214K|CEP78_ENST00000376598.2_Missense_Mutation_p.E214K|CEP78_ENST00000277082.5_Missense_Mutation_p.E214K Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa 214 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AACCTGGGCTGAGAGTCTTCG 0.403000 7 49 0 0 0.029380 0 0 DYTN 391475 broad.mit.edu 37 2 207530693 207530693 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:207530693C>T ENST00000452335.2 - 10 1157 c.1041G>A c.(1039-1041)caG>caA p.Q347Q NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 347 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTCTTTCTTCCTGGGAGGTGT 0.408000 10 74 0 0 0.006214 0 0 PIK3CA 5290 broad.mit.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:178938934G>A ENST00000263967.3 + 14 2333 c.2176G>A c.(2176-2178)Gaa>Aaa p.E726K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 726 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E726K(8) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GAAGAAGGATGAAACACAAAA 0.428000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 8 28 0 0 0.038147 0 0 AHNAK2 113146 broad.mit.edu 37 14 105417209 105417209 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:105417209C>T ENST00000333244.5 - 7 4698 c.4579G>A c.(4579-4581)Gtg>Atg p.V1527M AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1527 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 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) GGGAGGCTCACGTCGGCCTCC 0.622000 6 247 0 0 0.049695 0 0 RP1 6101 broad.mit.edu 37 8 55542326 55542326 + Missense_Mutation SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr8:55542326A>G ENST00000220676.1 + 4 6032 c.5884A>G c.(5884-5886)Aca>Gca p.T1962A NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1962 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTTACTTCAGACAGACAAAAA 0.318000 5 44 0 0 0.014758 0 0 CNGA3 1261 broad.mit.edu 37 2 99013345 99013345 + Missense_Mutation SNP T T C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:99013345T>C ENST00000393504.1 + 8 2129 c.1712T>C c.(1711-1713)aTt>aCt p.I571T CNGA3_ENST00000272602.2_Missense_Mutation_p.I571T|CNGA3_ENST00000409937.1_Missense_Mutation_p.I575T|CNGA3_ENST00000436404.2_Missense_Mutation_p.I553T NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 571 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 ATCCGCAGCATTGGCTACTCA 0.587000 19 134 0 0 0.043863 0 0 PTCH1 5727 broad.mit.edu 37 9 98268846 98268846 + Silent SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:98268846C>G ENST00000430669.2 - 2 624 c.39G>C c.(37-39)ctG>ctC p.L13L PTCH1_ENST00000437951.1_Silent_p.L13L|PTCH1_ENST00000418258.1_5'UTR|PTCH1_ENST00000468211.2_Silent_p.L13L|PTCH1_ENST00000331920.6_Silent_p.L79L|PTCH1_ENST00000429896.2_5'UTR|PTCH1_ENST00000375274.2_Silent_p.L78L|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000421141.1_5'UTR Q13635 PTC1_HUMAN patched 1 79 embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1) 490 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) ACTTCGCTCTCAGCCACAGCG 0.592000 4 40 0 0 0.014758 0 0 ARID1B 57492 broad.mit.edu 37 6 157256619 157256619 + Missense_Mutation SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:157256619A>G ENST00000346085.5 + 5 1947 c.1946A>G c.(1945-1947)tAt>tGt p.Y649C ARID1B_ENST00000275248.4_Missense_Mutation_p.Y578C|ARID1B_ENST00000350026.5_Missense_Mutation_p.Y636C|ARID1B_ENST00000367148.1_Missense_Mutation_p.Y636C NM_020732.3 NP_065783.3 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 636 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CAGGAAGGCTATGGAACTAGA 0.363000 13 92 0 0 0.020292 0 0 PTPRS 5802 broad.mit.edu 37 19 5212212 5212212 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:5212212C>G ENST00000372412.4 - 32 5055 c.4822G>C c.(4822-4824)Gag>Cag p.E1608Q PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000262963.6_Missense_Mutation_p.E1587Q|PTPRS_ENST00000592099.1_Missense_Mutation_p.E1160Q|PTPRS_ENST00000357368.4_Missense_Mutation_p.E1607Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.E1569Q|PTPRS_ENST00000587303.1_Missense_Mutation_p.E1607Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.E1569Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.E1160Q Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 1607 Tyrosine-protein phosphatase 1. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TTGATCCGCTCAAGCATGGCG 0.622000 4 84 0 0 0.009096 0 0 ACSL4 2182 broad.mit.edu 37 X 108926545 108926545 + Silent SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:108926545A>G ENST00000340800.2 - 4 675 c.171T>C c.(169-171)agT>agC p.S57S ACSL4_ENST00000348502.6_Silent_p.S16S|ACSL4_ENST00000469796.2_Silent_p.S57S NM_022977.2 NP_075266.1 O60488 ACSL4_HUMAN acyl-CoA synthetase long-chain family member 4 57 fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2) 22 Icosapent(DB00159)|Troglitazone(DB00197) AGCGATATGGACTTCCAGGTT 0.403000 5 190 0 0 0.021553 0 0 NUP54 53371 broad.mit.edu 37 4 77057369 77057369 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:77057369G>A ENST00000264883.3 - 4 632 c.492C>T c.(490-492)ttC>ttT p.F164F NUP54_ENST00000458189.2_Intron|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR|NUP54_ENST00000514987.1_Silent_p.F116F NM_017426.2 NP_059122.2 Q7Z3B4 NUP54_HUMAN nucleoporin 54kDa 164 9 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleoplasm cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1) 19 TTTCTTGTGTGAATTCCACTG 0.323000 5 61 0 0 0.021553 0 0 RBP3 5949 broad.mit.edu 37 10 48387946 48387946 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:48387946C>G ENST00000224600.4 - 1 3045 c.2932G>C c.(2932-2934)Gaa>Caa p.E978Q NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 978 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGGGCCACTTCTGAGGTCACC 0.617000 6 91 0 0 0.029380 0 0 POMGNT1 55624 broad.mit.edu 37 1 46660524 46660524 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:46660524C>T ENST00000371992.1 - 7 1294 c.644G>A c.(643-645)cGa>cAa p.R215Q POMGNT1_ENST00000371984.3_Missense_Mutation_p.R215Q|POMGNT1_ENST00000371986.3_Missense_Mutation_p.R215Q|POMGNT1_ENST00000396420.3_Intron|POMGNT1_ENST00000535522.1_Missense_Mutation_p.R193Q NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 215 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) ACCTCCTTTTCGTCCCACGAA 0.617000 37 223 0 0 0.027894 0 0 RAVER2 55225 broad.mit.edu 37 1 65278428 65278428 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:65278428C>G ENST00000294428.3 + 10 1766 c.1688C>G c.(1687-1689)tCt>tGt p.S563C RAVER2_ENST00000430964.2_Intron|RAVER2_ENST00000371072.4_Missense_Mutation_p.S550C Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 563 cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TAGGCTGCCTCTAAGAATCAA 0.348000 4 41 0 0 0.009096 0 0 GPR26 2849 broad.mit.edu 37 10 125426416 125426416 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:125426416G>A ENST00000284674.1 + 1 546 c.493G>A c.(493-495)Gag>Aag p.E165K NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 165 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GCGGCCAGACGAGCGCCTGCG 0.677000 6 23 0 0 0.029380 0 0 ANGPT4 51378 broad.mit.edu 37 20 870886 870886 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr20:870886C>T ENST00000381922.3 - 2 537 c.435G>A c.(433-435)caG>caA p.Q145Q ANGPT4_ENST00000546022.1_Silent_p.Q145Q NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 145 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 GCTTGCGGATCTGGGCAGTGG 0.622000 3 43 0 0 0.004672 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971028 21971028 + Nonsense_Mutation SNP C C T rs121913389 TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:21971028C>T ENST00000304494.5 - 2 600 c.330G>A c.(328-330)tgG>tgA p.W110* CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G166R|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G125R|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579755.1_Missense_Mutation_p.G125R|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59* NM_000077.4 NP_000068.1 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 110 cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.W110*(33)|p.H83fs*2(2)|p.G166R(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.W110C(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) GCAGACGGCCCCAGGCATCGC 0.736000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 4 33 0 0 0.009096 0 0 NOTCH2 4853 broad.mit.edu 37 1 120548096 120548096 + Nonsense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:120548096G>A ENST00000256646.2 - 3 490 c.271C>T c.(271-273)Cga>Tga p.R91* NOTCH2_ENST00000602566.1_Nonsense_Mutation_p.R52* NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 91 EGF-like 2. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGGCACATCGGCACGTGGCT 0.557000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 10 112 0 0 0.013537 0 0 KIAA1109 84162 broad.mit.edu 37 4 123159467 123159467 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:123159467G>A ENST00000264501.4 + 28 4168 c.3795G>A c.(3793-3795)gaG>gaA p.E1265E KIAA1109_ENST00000455637.1_Silent_p.E1265E|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Silent_p.E1265E Q2LD37 K1109_HUMAN KIAA1109 1265 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 TTCAAAAAGAGTTCTTGCATG 0.388000 8 60 0 0 0.038147 0 0 PASD1 139135 broad.mit.edu 37 X 150828296 150828296 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:150828296C>T ENST00000370357.4 + 10 1074 c.829C>T c.(829-831)Cct>Tct p.P277S NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 277 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GGATACTATGCCTGAATCTCC 0.383000 4 45 0 0 0.009096 0 0 OPA3 80207 broad.mit.edu 37 19 46057068 46057068 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:46057068C>G ENST00000263275.4 - 2 298 c.244G>C c.(244-246)Gag>Cag p.E82Q OPA3_ENST00000544371.1_Missense_Mutation_p.E29Q|OPA3_ENST00000323060.3_Intron NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 82 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) CCCAGCAGCTCTGCGCCCAGC 0.657000 7 30 0 0 0.029380 0 0 CSMD3 114788 broad.mit.edu 37 8 113662457 113662457 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr8:113662457C>G ENST00000297405.5 - 19 3370 c.3126G>C c.(3124-3126)ttG>ttC p.L1042F CSMD3_ENST00000455883.2_Missense_Mutation_p.L938F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1002F|CSMD3_ENST00000352409.3_Missense_Mutation_p.L1042F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1042 Sushi 5. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CTTCATGACTCAACCTGTATC 0.438000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 108 0 0 0.004672 0 0 LNPEP 4012 broad.mit.edu 37 5 96314945 96314945 + Silent SNP T T C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:96314945T>C ENST00000231368.5 + 2 815 c.123T>C c.(121-123)ccT>ccC p.P41P LNPEP_ENST00000395770.3_Silent_p.P27P NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 41 cell-cell signaling|female pregnancy|proteolysis extracellular region|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 34 all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244) COAD - Colon adenocarcinoma(37;0.072) CTCTAGAGCCTGATGAGGTGG 0.502000 3 111 0 0 0.004672 0 0 CRTC3 64784 broad.mit.edu 37 15 91172509 91172509 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr15:91172509C>T ENST00000420329.2 + 11 1158 c.1011C>T c.(1009-1011)ctC>ctT p.L337L CRTC3_ENST00000268184.6_Silent_p.L337L|RP11-387D10.2_ENST00000559531.1_RNA NM_001042574.2|NM_022769.4 NP_001036039.1|NP_073606.3 Q6UUV7 CRTC3_HUMAN CREB regulated transcription coactivator 3 337 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus CRTC3/MAML2(26) breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163) BRCA - Breast invasive adenocarcinoma(143;0.0745) AAGCCACGCTCAATAAGACTG 0.448000 T MAML2 salivary gland mucoepidermoid 17 126 0 0 0.028581 0 0 SOGA2 23255 broad.mit.edu 37 18 8718593 8718593 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr18:8718593G>C ENST00000359865.3 + 3 287 c.145G>C c.(145-147)Gag>Cag p.E49Q SOGA2_ENST00000400050.3_Missense_Mutation_p.E49Q|SOGA2_ENST00000517570.1_Missense_Mutation_p.E49Q|SOGA2_ENST00000306329.11_Missense_Mutation_p.E409Q|SOGA2_ENST00000306285.7_5'UTR NM_015210.3 NP_056025.2 Q9Y4B5 CC165_HUMAN SOGA family member 2 400 GAAAGTGGCTGAGACGGGTCA 0.577000 8 57 0 0 0.038147 0 0 QRICH2 84074 broad.mit.edu 37 17 74287504 74287504 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:74287504G>A ENST00000262765.5 - 4 2985 c.2806C>T c.(2806-2808)Ctc>Ttc p.L936F NM_032134.1 NP_115510.1 Q9H0J4 QRIC2_HUMAN glutamine rich 2 936 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4) 62 CTGTCAAAGAGAGAGAAAGCA 0.507000 6 58 0 0 0.021553 0 0 SLC46A3 283537 broad.mit.edu 37 13 29278221 29278221 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr13:29278221C>T ENST00000266943.6 - 5 1529 c.1160G>A c.(1159-1161)tGt>tAt p.C387Y SLC46A3_ENST00000380814.4_Missense_Mutation_p.C387Y|SLC46A3_ENST00000475385.1_5'UTR NM_001135919.1|NM_181785.3 NP_001129391.1|NP_861450.1 Q7Z3Q1 S46A3_HUMAN solute carrier family 46, member 3 387 transmembrane transport integral to membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1) 15 Lung SC(185;0.0367) all cancers(112;0.159) GAAAGCAATACAAGCAAACAG 0.398000 5 70 0 0 0.014758 0 0 GFRA3 2676 broad.mit.edu 37 5 137593489 137593489 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:137593489G>A ENST00000274721.3 - 4 870 c.624C>T c.(622-624)gcC>gcT p.A208A GFRA3_ENST00000378362.3_Silent_p.A177A NM_001496.3 NP_001487.2 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 208 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGTGGGGCTCGGCGGCCTTCT 0.726000 10 56 0 0 0.008291 0 0 PHC2 1912 broad.mit.edu 37 1 33832909 33832909 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:33832909G>A ENST00000257118.5 - 6 837 c.784C>T c.(784-786)Ctg>Ttg p.L262L PHC2_ENST00000419414.2_Silent_p.L262L|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.L233L NM_198040.2 NP_932157.1 Q8IXK0 PHC2_HUMAN polyhomeotic homolog 2 (Drosophila) 262 multicellular organismal development PcG protein complex DNA binding|identical protein binding|zinc ion binding autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GGGGTAGGCAGAGGCTGGCTA 0.632000 OREG0013344 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 129 0 0 0.029380 0 0 BLOC1S2 282991 broad.mit.edu 37 10 102039977 102039977 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:102039977G>A ENST00000441611.1 - 3 389 c.172C>T c.(172-174)Ctg>Ttg p.L58L BLOC1S2_ENST00000370372.2_Silent_p.L101L Q6QNY1 BL1S2_HUMAN biogenesis of lysosomal organelles complex-1, subunit 2 101 melanosome organization|microtubule nucleation|platelet dense granule organization|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of apoptosis BLOC-1 complex|centrosome|gamma-tubulin complex|nucleus gamma-tubulin binding|identical protein binding|protein C-terminus binding large_intestine(1)|lung(2)|ovary(1) 4 Colorectal(252;0.117) Epithelial(162;2.44e-10)|all cancers(201;1.97e-08) TAAGGCTGCAGTCCAGCATCT 0.363000 3 59 0 0 0.004672 0 0 ZNF544 27300 broad.mit.edu 37 19 58773055 58773055 + Silent SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:58773055A>G ENST00000269829.4 + 7 1557 c.1083A>G c.(1081-1083)aaA>aaG p.K361K ZNF544_ENST00000600220.1_Silent_p.K333K|ZNF544_ENST00000596652.1_Silent_p.K361K|ZNF544_ENST00000600044.1_Silent_p.K333K|ZNF544_ENST00000415203.2_Silent_p.K333K|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Silent_p.K219K|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000599227.1_3'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AGTGTGGAAAATCTTTCAGCT 0.458000 8 54 0 0 0.047766 0 0 DOCK7 85440 broad.mit.edu 37 1 63003606 63003606 + Missense_Mutation SNP G G T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:63003606G>T ENST00000251157.5 - 28 3460 c.3427C>A c.(3427-3429)Cca>Aca p.P1143T DOCK7_ENST00000340370.5_Missense_Mutation_p.P1112T NM_001271999.1 NP_001258928.1 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1143 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 92 GATGCAGGTGGAGTAAGTAAG 0.393000 5 47 0.000602214 0.000641866 0.014758 1 0 TPI1 7167 broad.mit.edu 37 12 6976707 6976707 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:6976707C>T ENST00000229270.4 + 1 425 c.88C>T c.(88-90)Ctt>Ttt p.L30F TPI1_ENST00000396705.5_5'UTR NM_001159287.1 NP_001152759.1 P60174 TPIS_HUMAN triosephosphate isomerase 1 0 NA -> QG (in Ref. 1; AA sequence). fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2) 19 AGACACTGACCTTCAGCGCCT 0.652000 7 14 0 0 0.029380 0 0 MADD 8567 broad.mit.edu 37 11 47317523 47317523 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:47317523G>A ENST00000342922.4 + 22 3919 c.3562G>A c.(3562-3564)Gag>Aag p.E1188K MADD_ENST00000406482.1_Missense_Mutation_p.E1145K|MADD_ENST00000402799.1_Missense_Mutation_p.E1145K|MADD_ENST00000405573.2_Missense_Mutation_p.E36K|MADD_ENST00000407859.3_Missense_Mutation_p.E1165K|MADD_ENST00000395344.3_Missense_Mutation_p.E1141K|MADD_ENST00000311027.5_Missense_Mutation_p.E1226K|MADD_ENST00000395336.3_Missense_Mutation_p.E1226K|MADD_ENST00000349238.3_Missense_Mutation_p.E1208K|MADD_ENST00000402192.2_Missense_Mutation_p.E1187K NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1226 Ser-rich. activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) ACCAGGTGGCGAGGGCAGTGT 0.483000 16 114 0 0 0.028581 0 0 TIMM50 92609 broad.mit.edu 37 19 39971230 39971230 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:39971230C>T ENST00000314349.4 + 1 179 c.46C>T c.(46-48)Cgc>Tgc p.R16C NM_001001563.1 NP_001001563.1 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) 0 mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1) 14 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCCCTTCCTTCGCTGCGTCCT 0.562000 8 82 0 0 0.038147 0 0 SUPT16H 11198 broad.mit.edu 37 14 21822578 21822578 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:21822578C>T ENST00000216297.2 - 23 3120 c.2782G>A c.(2782-2784)Gag>Aag p.E928K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 928 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) ACCTCACCCTCAGGCTCCAGG 0.478000 6 46 0 0 0.021553 0 0 GTPBP4 23560 broad.mit.edu 37 10 1061734 1061734 + Silent SNP T T C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:1061734T>C ENST00000360803.4 + 16 1732 c.1650T>C c.(1648-1650)acT>acC p.T550T GTPBP4_ENST00000545048.1_Silent_p.T503T|GTPBP4_ENST00000538293.1_Silent_p.T434T NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 550 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GGAGCATCACTAGGAAAAGAA 0.587000 10 93 0 0 0.008291 0 0 OR6C75 390323 broad.mit.edu 37 12 55758919 55758919 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:55758919G>A ENST00000343399.3 + 1 25 c.25G>A c.(25-27)Gac>Aac p.D9N NM_001005497.1 NP_001005497.1 A6NL08 O6C75_HUMAN olfactory receptor, family 6, subfamily C, member 75 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2) 25 AGCAGTAACAGACTTTATTCT 0.353000 4 123 0 0 0.009096 0 0 ITGB4 3691 broad.mit.edu 37 17 73729739 73729739 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:73729739C>T ENST00000200181.3 + 13 1810 c.1623C>T c.(1621-1623)ttC>ttT p.F541F ITGB4_ENST00000450894.3_Silent_p.F541F|ITGB4_ENST00000449880.2_Silent_p.F541F|ITGB4_ENST00000579662.1_Silent_p.F541F|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.F541F NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 541 Cysteine-rich tandem repeats. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) ATGACAACTTCCAGTGTCCCC 0.612000 4 42 0 0 0.009096 0 0 HK3 3101 broad.mit.edu 37 5 176310832 176310832 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:176310832C>T ENST00000292432.5 - 15 2083 c.1992G>A c.(1990-1992)acG>acA p.T664T NM_002115.2 NP_002106.2 P52790 HXK3_HUMAN hexokinase 3 (white cell) 664 Catalytic. glucose transport|glycolysis|transmembrane transport cytosol|membrane ATP binding|glucokinase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGGTCCCCACCGTGTCATTGA 0.582000 11 123 0 0 0.010729 0 0 TRPM2 7226 broad.mit.edu 37 21 45821618 45821618 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr21:45821618C>T ENST00000397928.1 + 16 2821 c.2376C>T c.(2374-2376)ttC>ttT p.F792F TRPM2_ENST00000300481.9_Silent_p.F772F|TRPM2_ENST00000300482.5_Silent_p.F792F|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.F792F NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 792 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 GTGCCTTCTTCACCGCACCCG 0.652000 17 193 0 0 0.028581 0 0 LILRB1 10859 broad.mit.edu 37 19 55143593 55143593 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:55143593C>T ENST00000396331.1 + 6 923 c.566C>T c.(565-567)cCg>cTg p.P189L LILRB1_ENST00000396332.4_Missense_Mutation_p.P189L|LILRB1_ENST00000396317.1_Missense_Mutation_p.P189L|LILRB1_ENST00000418536.2_Missense_Mutation_p.P189L|LILRB1_ENST00000448689.1_Missense_Mutation_p.P189L|LILRB1_ENST00000396315.1_Missense_Mutation_p.P189L|LILRB1_ENST00000396327.3_Missense_Mutation_p.P189L|LILRB1_ENST00000396321.2_Missense_Mutation_p.P189L|LILRB1_ENST00000324602.7_Missense_Mutation_p.P189L|LILRB1_ENST00000434867.2_Missense_Mutation_p.P189L|LILRB1_ENST00000427581.2_Missense_Mutation_p.P225L NM_006669.3 NP_006660.3 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 189 Ig-like C2-type 2. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity p.P189L(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) CCCGTGAGCCCGAGTCGCAGG 0.592000 HNSCC(37;0.09) 17 147 0 0 0.028581 0 0 FAM83G 644815 broad.mit.edu 37 17 18881375 18881375 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:18881375G>A ENST00000388995.6 - 5 1827 c.1604C>T c.(1603-1605)cCc>cTc p.P535L SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.P535L|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.P535L|SLC5A10_ENST00000395643.2_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 535 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CCCATTCTGGGGAGCTTCCTC 0.647000 6 110 0 0 0.029380 0 0 NFKB2 4791 broad.mit.edu 37 10 104157126 104157126 + Nonsense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:104157126C>T ENST00000369966.3 + 7 713 c.463C>T c.(463-465)Cag>Tag p.Q155* NFKB2_ENST00000428099.1_Nonsense_Mutation_p.Q155*|NFKB2_ENST00000189444.6_Nonsense_Mutation_p.Q155* NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 155 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) ACAAAAACTTCAGAGGCAGCG 0.572000 T IGH@ B-NHL 4 121 0 0 0.009096 0 0 NAB1 4664 broad.mit.edu 37 2 191524148 191524148 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:191524148C>T ENST00000337386.5 + 4 707 c.246C>T c.(244-246)ttC>ttT p.F82F NAB1_ENST00000409581.1_Silent_p.F82F|NAB1_ENST00000409641.1_Silent_p.F82F|NAB1_ENST00000357215.5_Silent_p.F82F NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 82 NCD1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) CTGGGCTTTTCAATCAGCCAC 0.478000 4 80 0 0 0.009096 0 0 LOC220729 220729 broad.mit.edu 37 3 197349060 197349060 + RNA SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:197349060C>T ENST00000418868.1 - 0 517 NR_003266.2 CCCATCACCTCGACCATGGCA 0.582000 5 34 0 0 0.047766 0 0 ESRRG 2104 broad.mit.edu 37 1 216680464 216680464 + Silent SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:216680464C>A ENST00000391890.3 - 9 1663 c.1146G>T c.(1144-1146)gcG>gcT p.A382A ESRRG_ENST00000463665.1_Silent_p.A336A|ESRRG_ENST00000366938.2_Silent_p.A375A|ESRRG_ENST00000361395.2_Silent_p.A375A|ESRRG_ENST00000366940.2_Silent_p.A375A|ESRRG_ENST00000487276.1_Silent_p.A375A|ESRRG_ENST00000360012.3_Silent_p.A375A|ESRRG_ENST00000408911.3_Silent_p.A398A|ESRRG_ENST00000366937.1_Silent_p.A410A|ESRRG_ENST00000493748.1_Silent_p.A375A|ESRRG_ENST00000359162.2_Silent_p.A375A|ESRRG_ENST00000493603.1_Silent_p.A375A|ESRRG_ENST00000361525.3_Silent_p.A375A NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 398 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) AATCCTGCAGCGCTTCATGTA 0.478000 11 63 2.27111e-07 2.44074e-07 0.013537 1 0 PTPRE 5791 broad.mit.edu 37 10 129839247 129839247 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:129839247G>A ENST00000254667.3 + 3 381 c.102G>A c.(100-102)acG>acA p.T34T PTPRE_ENST00000471218.1_Silent_p.T34T|PTPRE_ENST00000419012.2_Silent_p.T34T|PTPRE_ENST00000430713.2_Silent_p.T34T NM_006504.4 NP_006495.1 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 34 negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 22 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) AGACAACCACGACCTCAGGTA 0.592000 3 28 0 0 0.009096 0 0 KIF26B 55083 broad.mit.edu 37 1 245850124 245850124 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:245850124C>T ENST00000366518.4 + 9 2800 c.2696C>T c.(2695-2697)tCc>tTc p.S899F KIF26B_ENST00000407071.2_Missense_Mutation_p.S1280F Q2KJY2 KI26B_HUMAN kinesin family member 26B 1280 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.S1280C(2) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) TCCATCAGCTCCTGGCTGAGC 0.612000 4 36 0 0 0.009096 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138455987 138455987 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr7:138455987C>T ENST00000310018.2 - 3 288 c.6G>A c.(4-6)gtG>gtA p.V2V ATP6V0A4_ENST00000353492.4_Silent_p.V2V|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000393054.1_Silent_p.V2V NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 2 V -> A (in dbSNP:rs10258719). cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GAAACACAGACACCATCTTGG 0.423000 13 154 0 0 0.024245 0 0 SMC1B 27127 broad.mit.edu 37 22 45802535 45802535 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr22:45802535C>T ENST00000357450.4 - 4 420 c.421G>A c.(421-423)Gag>Aag p.E141K SMC1B_ENST00000404354.3_Missense_Mutation_p.E141K NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 141 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GAAATTGACTCTACAGTTCCC 0.318000 6 56 0 0 0.021553 0 0 NOTCH2 4853 broad.mit.edu 37 1 120480557 120480557 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:120480557C>T ENST00000256646.2 - 20 3479 c.3260G>A c.(3259-3261)tGc>tAc p.C1087Y NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1087 EGF-like 28. anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGACATAGGCACTGGGACTC 0.517000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 10 47 0 0 0.013537 0 0 SLC29A1 2030 broad.mit.edu 37 6 44201176 44201176 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:44201176G>C ENST00000393841.1 + 14 1773 c.1282G>C c.(1282-1284)Gag>Cag p.E428Q SLC29A1_ENST00000371731.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371708.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371740.5_Missense_Mutation_p.E428Q|SLC29A1_ENST00000393844.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371724.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000371755.3_Missense_Mutation_p.E428Q|SLC29A1_ENST00000313248.7_Missense_Mutation_p.E507Q|SLC29A1_ENST00000371713.1_Missense_Mutation_p.E428Q|SLC29A1_ENST00000427851.2_Missense_Mutation_p.E428Q NM_001078177.1 NP_001071645.1 Q99808 S29A1_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 1 428 nucleobase, nucleoside and nucleotide metabolic process apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction nucleoside transmembrane transporter activity|protein binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 17 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) Troglitazone(DB00197) AGCTGAGGCAGAGACCGCAGG 0.587000 10 154 0 0 0.008291 0 0 DPYSL3 1809 broad.mit.edu 37 5 146804509 146804509 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:146804509G>C ENST00000343218.5 - 2 596 c.399C>G c.(397-399)atC>atG p.I133M DPYSL3_ENST00000534907.1_Intron|DPYSL3_ENST00000398514.3_Missense_Mutation_p.I19M NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 19 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCTCCCTTGATAAGGAGAC 0.368000 6 64 0 0 0.038147 0 0 HFE 3077 broad.mit.edu 37 6 26093372 26093372 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:26093372C>T ENST00000357618.5 + 5 1040 c.918C>T c.(916-918)gtC>gtT p.V306V HFE_ENST00000317896.7_Silent_p.V214V|HFE_ENST00000470149.1_Silent_p.V303V|HFE_ENST00000352392.4_Silent_p.V34V|HFE_ENST00000336625.8_Silent_p.V200V|HFE_ENST00000353147.5_Silent_p.V126V|HFE_ENST00000309234.6_Silent_p.V306V|HFE_ENST00000461397.1_Silent_p.V292V|HFE_ENST00000349999.4_Silent_p.V218V|HFE_ENST00000397022.3_Silent_p.V283V|HFE_ENST00000488199.1_Silent_p.V204V NM_000410.3|NM_139006.2 NP_000401.1|NP_620575.1 Q30201 HFE_HUMAN hemochromatosis 306 Connecting peptide. antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome protein binding endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCACCCTAGTCATTGGAGTCA 0.443000 Hemochromatosis 5 46 0 0 0.021553 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227300480 227300480 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:227300480C>T ENST00000366769.3 - 13 3073 c.1782G>A c.(1780-1782)caG>caA p.Q594Q CDC42BPA_ENST00000366767.3_Intron|CDC42BPA_ENST00000334218.5_Silent_p.Q594Q|CDC42BPA_ENST00000535525.1_Silent_p.Q594Q|CDC42BPA_ENST00000366764.2_Silent_p.Q594Q|CDC42BPA_ENST00000366765.3_Silent_p.Q594Q|CDC42BPA_ENST00000366766.2_Silent_p.Q594Q NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 594 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GAGCAAGTTTCTGTTTTTGGG 0.468000 16 210 0 0 0.033300 0 0 PSD 5662 broad.mit.edu 37 10 104163637 104163637 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:104163637C>T ENST00000020673.5 - 16 3332 c.2806G>A c.(2806-2808)Gaa>Aaa p.E936K PSD_ENST00000406432.1_Missense_Mutation_p.E936K NM_001270966.1|NM_002779.3 NP_001257895.1|NP_002770.3 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 936 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CGCTGCTCTTCAGCCTCCTTG 0.662000 4 17 0 0 0.009096 0 0 RERE 473 broad.mit.edu 37 1 8425906 8425906 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:8425906G>A ENST00000337907.3 - 14 2047 c.1413C>T c.(1411-1413)gtC>gtT p.V471V RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Silent_p.V203V|RERE_ENST00000400907.2_Silent_p.V471V|RERE_ENST00000400908.2_Silent_p.V471V NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 471 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGGGTGTGTTGACGGGTGTGG 0.632000 4 63 0 0 0.014758 0 0 ZNF107 51427 broad.mit.edu 37 7 64168431 64168431 + Silent SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr7:64168431A>G ENST00000395391.1 + 4 3124 c.1749A>G c.(1747-1749)gaA>gaG p.E583E ZNF107_ENST00000344930.3_Silent_p.E583E|ZNF107_ENST00000423627.1_Silent_p.E583E Q9UII5 ZN107_HUMAN zinc finger protein 107 583 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) ACAAATTTGAAGAACATGGAA 0.338000 3 77 0 0 0.004672 0 0 JADE3 9767 broad.mit.edu 37 X 46915504 46915504 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:46915504G>C ENST00000218343.4 + 10 1762 c.1464G>C c.(1462-1464)atG>atC p.M488I PHF16_ENST00000397189.1_Missense_Mutation_p.M488I NM_014735.3 NP_055550.1 Q92613 JADE3_HUMAN 488 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2) 33 TGTGCTATATGATAAGCAGAC 0.398000 3 24 0 0 0.004672 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220735 118220735 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:118220735C>T ENST00000402510.2 - 11 4457 c.4458G>A c.(4456-4458)tcG>tcA p.S1486S NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 1486 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TATACTTCTGCGAGGGAGGGG 0.448000 3 32 0 0 0.004672 0 0 ENPP1 5167 broad.mit.edu 37 6 132201070 132201070 + Nonsense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:132201070C>T ENST00000360971.2 + 20 2016 c.1996C>T c.(1996-1998)Cag>Tag p.Q666* NM_006208.2 NP_006199.2 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 1 666 Nuclease. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TAGAGTTCTCCAGAAGGAAAA 0.403000 9 80 0 0 0.047766 0 0 SERPINA10 51156 broad.mit.edu 37 14 94750479 94750479 + Silent SNP T T G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:94750479T>G ENST00000554723.1 - 5 1696 c.1278A>C c.(1276-1278)acA>acC p.T426T SERPINA10_ENST00000554173.1_Silent_p.T386T|SERPINA10_ENST00000261994.4_Silent_p.T386T|SERPINA10_ENST00000393096.1_Silent_p.T386T Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 386 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) CTTCAATCACTGTTCTTTGTA 0.428000 6 22 0 0 0.021553 0 0 GPD2 2820 broad.mit.edu 37 2 157352715 157352715 + Missense_Mutation SNP G G A rs115026480 by1000genomes TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:157352715G>A ENST00000310454.6 + 3 634 c.262G>A c.(262-264)Gct>Act p.A88T GPD2_ENST00000409125.4_Intron|GPD2_ENST00000438166.2_Missense_Mutation_p.A88T|GPD2_ENST00000409674.1_Missense_Mutation_p.A88T|GPD2_ENST00000540309.1_Missense_Mutation_p.A88T NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 88 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 TGCGCTAGATGCTGTCACCAG 0.413000 5 30 0 0 0.014758 0 0 CCDC125 202243 broad.mit.edu 37 5 68590675 68590675 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:68590675G>A ENST00000396496.2 - 9 976 c.869C>T c.(868-870)tCt>tTt p.S290F CCDC125_ENST00000383374.2_Intron|CCDC125_ENST00000511257.1_Missense_Mutation_p.S165F|CCDC125_ENST00000460090.1_5'UTR|CCDC125_ENST00000396499.1_Missense_Mutation_p.S290F Q86Z20 CC125_HUMAN coiled-coil domain containing 125 290 cytoplasm breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1) 19 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TCTGGCACAAGAACAGGGGTT 0.463000 14 171 0 0 0.016723 0 0 LACC1 144811 broad.mit.edu 37 13 44463085 44463085 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr13:44463085C>T ENST00000441843.1 + 5 1585 c.1100C>T c.(1099-1101)cCa>cTa p.P367L LACC1_ENST00000325686.6_Missense_Mutation_p.P367L NM_001128303.1 NP_001121775.1 Q8IV20 CM031_HUMAN laccase (multicopper oxidoreductase) domain containing 1 367 TTTGATTCACCAAATCCCTGT 0.373000 4 78 0 0 0.009096 0 0 APOC1 341 broad.mit.edu 37 19 45419544 45419544 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:45419544C>G ENST00000588750.1 + 4 481 c.156C>G c.(154-156)atC>atG p.I52M APOC1_ENST00000588802.1_Missense_Mutation_p.I52M|APOC1_ENST00000586638.1_Missense_Mutation_p.I52M|APOC1_ENST00000589781.1_Intron|APOC1_ENST00000252491.4_Missense_Mutation_p.I52M|APOC1_ENST00000592885.1_Missense_Mutation_p.I52M P02654 APOC1_HUMAN apolipoprotein C-I 52 cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity cervix(1)|large_intestine(1)|lung(2) 4 Lung NSC(12;0.0018)|all_lung(12;0.00481) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174) GGGAACTCATCAGCCGCATCA 0.587000 8 95 0 0 0.047766 0 0 GOLGA3 2802 broad.mit.edu 37 12 133362956 133362956 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:133362956C>T ENST00000204726.3 - 15 3650 c.3092G>A c.(3091-3093)gGt>gAt p.G1031D GOLGA3_ENST00000545875.1_Missense_Mutation_p.G1031D|GOLGA3_ENST00000537452.1_Missense_Mutation_p.G1031D|GOLGA3_ENST00000456883.2_Missense_Mutation_p.G1031D|GOLGA3_ENST00000450791.2_Missense_Mutation_p.G1031D NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 1031 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) ACTGCTGCCACCCTGGGCTCG 0.692000 5 41 0 0 0.014758 0 0 SLC38A6 145389 broad.mit.edu 37 14 61510219 61510219 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:61510219G>C ENST00000354886.2 + 10 906 c.742G>C c.(742-744)Gag>Cag p.E248Q SLC38A6_ENST00000456840.2_Missense_Mutation_p.E225Q|SLC38A6_ENST00000267488.4_Missense_Mutation_p.E248Q NM_001172702.1 NP_001166173.1 Q8IZM9 S38A6_HUMAN solute carrier family 38, member 6 248 amino acid transport|sodium ion transport integral to membrane central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.0981) TTTCTCCAAAGAGGTGTGTAA 0.343000 4 46 0 0 0.009096 0 0 RIOK2 55781 broad.mit.edu 37 5 96498921 96498921 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:96498921C>T ENST00000283109.3 - 10 1571 c.1503G>A c.(1501-1503)gtG>gtA p.V501V CTD-2215E18.1_ENST00000509481.1_Intron NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 501 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CCTTCTGTTTCACCAGTTCCT 0.353000 4 41 0 0 0.014758 0 0 OR51A4 401666 broad.mit.edu 37 11 4967899 4967899 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:4967899G>A ENST00000380373.2 - 1 457 c.432C>T c.(430-432)gcC>gcT p.A144A MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001005329.1 NP_001005329.1 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, member 4 144 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 29 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCCTATTTGGGCAACTCTGA 0.428000 32 179 0 0 0.025465 0 0 ADRBK1 156 broad.mit.edu 37 11 67050604 67050604 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:67050604G>A ENST00000308595.5 + 15 1523 c.1233G>A c.(1231-1233)gtG>gtA p.V411V ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR NM_001619.3 NP_001610.2 P25098 ARBK1_HUMAN adrenergic, beta, receptor kinase 1 411 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) TAAAGGCCGTGGAGCTGCCCG 0.647000 14 127 0 0 0.028581 0 0 RBP3 5949 broad.mit.edu 37 10 48388901 48388901 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:48388901C>G ENST00000224600.4 - 1 2090 c.1977G>C c.(1975-1977)caG>caC p.Q659H NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 659 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GGGCACTGGTCTGCCCCACGA 0.672000 4 37 0 0 0.009096 0 0 HAUS5 23354 broad.mit.edu 37 19 36113850 36113850 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:36113850G>A ENST00000203166.5 + 19 1882 c.1857G>A c.(1855-1857)ctG>ctA p.L619L HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 619 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 AGTGGCGGCTGCGCTGGGTTC 0.652000 14 62 0 0 0.016723 0 0 GABRQ 55879 broad.mit.edu 37 X 151821396 151821396 + Missense_Mutation SNP G G T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:151821396G>T ENST00000370306.2 + 9 1571 c.1551G>T c.(1549-1551)aaG>aaT p.K517N NM_018558.2 NP_061028.2 Q9UN88 GBRT_HUMAN gamma-aminobutyric acid (GABA) A receptor, theta 517 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 52 Acute lymphoblastic leukemia(192;6.56e-05) CCAGTGGGAAGCCCATGCTTC 0.547000 4 60 0.00909568 0.00942312 0.009096 1 0 ZNF44 51710 broad.mit.edu 37 19 12384320 12384320 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:12384320C>T ENST00000356109.5 - 5 1012 c.894G>A c.(892-894)gaG>gaA p.E298E ZNF44_ENST00000355684.5_Silent_p.E250E NM_001164276.1 NP_001157748.1 P15621 ZNF44_HUMAN zinc finger protein 44 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) CATACGGTTTCTCCCCAGTGT 0.393000 10 147 0 0 0.006214 0 0 KRT5 3852 broad.mit.edu 37 12 52913991 52913991 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:52913991G>A ENST00000252242.4 - 1 480 c.90C>T c.(88-90)acC>acT p.T30T NM_000424.3 NP_000415.2 P13647 K2C5_HUMAN keratin 5 30 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGTGAAGCTGGTGCGGGAGA 0.662000 3 53 0 0 0.004672 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42067523 42067523 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr15:42067523G>A ENST00000457542.2 + 2 336 c.50G>A c.(49-51)aGa>aAa p.R17K MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R17K|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R17K|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R17K NM_014994.2 NP_055809.2 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 1 17 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AATCTGTTGAGATCTCCATCC 0.542000 9 70 0 0 0.008291 0 0 PPP1R14B 26472 broad.mit.edu 37 11 64012227 64012227 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:64012227C>T ENST00000309318.3 - 4 710 c.443G>A c.(442-444)tGa>tAa p.*148* PPP1R14B_ENST00000542235.1_Silent_p.*73*|PPP1R14B_ENST00000392210.2_Silent_p.*46* NM_138689.2 NP_619634.1 Q96C90 PP14B_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 14B 0 regulation of phosphorylation cytoplasm protein phosphatase inhibitor activity kidney(1)|lung(1)|pancreas(1) 3 CGGGGACCGTCACTTCTTCTG 0.617000 5 47 0 0 0.021553 0 0 ERBB4 2066 broad.mit.edu 37 2 212530201 212530201 + Splice_Site SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:212530201C>T ENST00000342788.4 - 15 2028 c.1716_splice c.e15-1 p.G573_splice ERBB4_ENST00000436443.1_Splice_Site_p.G573_splice|ERBB4_ENST00000402597.1_Splice_Site_p.G573_splice NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 573 Cys-rich. 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 NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 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) GTTGTCAGGACCCTGAAATGT 0.393000 TSP Lung(8;0.080) 4 47 0 0 0.009096 0 0 NEDD4 4734 broad.mit.edu 37 15 56144728 56144728 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr15:56144728G>A ENST00000508342.1 - 9 2596 c.2297C>T c.(2296-2298)tCa>tTa p.S766L NEDD4_ENST00000338963.2_Missense_Mutation_p.S694L|NEDD4_ENST00000506154.1_Missense_Mutation_p.S750L|NEDD4_ENST00000435532.3_Missense_Mutation_p.S347L P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase 766 Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) TAATCCAGATGAAGTAGGCAA 0.383000 4 46 0 0 0.009096 0 0 COG6 57511 broad.mit.edu 37 13 40261891 40261891 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr13:40261891G>A ENST00000416691.1 + 10 1064 c.964G>A c.(964-966)Gaa>Aaa p.E322K COG6_ENST00000455146.3_Missense_Mutation_p.E322K NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 322 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) TACTGCTTCTGAAAAGGAACA 0.373000 5 64 0 0 0.021553 0 0 CCDC87 55231 broad.mit.edu 37 11 66358522 66358522 + Nonsense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:66358522C>T ENST00000333861.3 - 1 2032 c.1965G>A c.(1963-1965)tgG>tgA p.W655* NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 655 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 GCACAGTGTTCCAATCCCACT 0.542000 10 94 0 0 0.006214 0 0 CD177 57126 broad.mit.edu 37 19 43865665 43865665 + RNA SNP T T C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:43865665T>C ENST00000378009.4 + 0 1176 CD177_ENST00000607517.1_RNA|CTC-490G23.4_ENST00000607109.1_RNA NM_020406.2 NP_065139.2 Q8N6Q3 CD177_HUMAN CD177 molecule blood coagulation|leukocyte migration anchored to membrane|plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 Prostate(69;0.00682) TTCAAGTGGCTCCCCCCGAAT 0.607000 3 40 0 0 0.004672 0 0 ARID2 196528 broad.mit.edu 37 12 46245723 46245723 + Nonsense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:46245723C>T ENST00000334344.6 + 15 3989 c.3817C>T c.(3817-3819)Cga>Tga p.R1273* ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.R1124*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R883* NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1273 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) GTCCTGCCGACGAGGAGCCAC 0.428000 """N, S, F""" hepatocellular carcinoma 5 55 0 0 0.014758 0 0 DLEC1 9940 broad.mit.edu 37 3 38081059 38081059 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:38081059G>A ENST00000308059.6 + 1 364 c.343G>A c.(343-345)Gca>Aca p.A115T DLEC1_ENST00000452631.2_Missense_Mutation_p.A115T|DLEC1_ENST00000346219.3_Missense_Mutation_p.A115T Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 115 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CGAAGTGAGCGCAAGCTTGAT 0.642000 4 114 0 0 0.009096 0 0 PKN1 5585 broad.mit.edu 37 19 14569134 14569134 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:14569134G>C ENST00000242783.6 + 9 1531 c.1366G>C c.(1366-1368)Gag>Cag p.E456Q PKN1_ENST00000342216.4_Missense_Mutation_p.E462Q NM_002741.3 NP_002732.3 Q16512 PKN1_HUMAN protein kinase N1 456 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1) 31 CTTGGACAATGAGAGGCATGA 0.582000 4 58 0 0 0.009096 0 0 CASP8 841 broad.mit.edu 37 2 202137620 202137620 + Splice_Site SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:202137620G>C ENST00000358485.4 + 5 923 c.e5-1 CASP8_ENST00000392266.3_Intron|CASP8_ENST00000264275.5_Intron|CASP8_ENST00000432109.2_Splice_Site|CASP8_ENST00000392258.3_Splice_Site|CASP8_ENST00000392259.2_Splice_Site|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_Intron NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 TTTTAATTCAGAGAGAAGCAG 0.368000 HNSCC(4;0.00038) 4 80 0 0 0.009096 0 0 SYNE1 23345 broad.mit.edu 37 6 152772295 152772295 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:152772295C>G ENST00000367255.5 - 26 3674 c.3073G>C c.(3073-3075)Gat>Cat p.D1025H SYNE1_ENST00000367253.4_Missense_Mutation_p.D1025H|SYNE1_ENST00000265368.4_Missense_Mutation_p.D1025H|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1091H|SYNE1_ENST00000448038.1_Missense_Mutation_p.D1032H|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1032H|SYNE1_ENST00000413186.2_Missense_Mutation_p.D1025H|SYNE1_ENST00000367248.3_Missense_Mutation_p.D1015H NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1025 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TTCTCCACATCAATCTTCAGA 0.413000 HNSCC(10;0.0054) 6 89 0 0 0.021553 0 0 CUL1 8454 broad.mit.edu 37 7 148487477 148487477 + Nonsense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr7:148487477C>T ENST00000325222.4 + 16 2029 c.1750C>T c.(1750-1752)Cag>Tag p.Q584* CUL1_ENST00000602748.1_Nonsense_Mutation_p.Q584*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.Q584* NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 584 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) GTGGTTATATCAGTTGTCTAA 0.358000 5 59 0 0 0.014758 0 0 STARD13 90627 broad.mit.edu 37 13 33859613 33859613 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr13:33859613G>C ENST00000336934.5 - 1 279 c.163C>G c.(163-165)Caa>Gaa p.Q55E STARD13_ENST00000487412.1_5'UTR NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 55 SAM. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) TCACCTTGTTGAATTTTAGTC 0.458000 8 113 0 0 0.047766 0 0 TNRC6C 57690 broad.mit.edu 37 17 76060832 76060832 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:76060832G>A ENST00000335749.4 + 4 2985 c.2416G>A c.(2416-2418)Gtt>Att p.V806I TNRC6C_ENST00000541771.1_Missense_Mutation_p.V809I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V806I|TNRC6C_ENST00000588847.1_Missense_Mutation_p.V806I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V809I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V809I NM_001142640.1 NP_001136112.1 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C 809 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AATGCCTAATGTTCACTCAAA 0.458000 6 68 0 0 0.029380 0 0 ALCAM 214 broad.mit.edu 37 3 105253681 105253681 + Missense_Mutation SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:105253681A>G ENST00000306107.5 + 6 1222 c.722A>G c.(721-723)gAt>gGt p.D241G ALCAM_ENST00000472644.2_Missense_Mutation_p.D241G|ALCAM_ENST00000486979.2_Missense_Mutation_p.D190G|ALCAM_ENST00000389927.4_Missense_Mutation_p.D50G|ALCAM_ENST00000481337.1_3'UTR NM_001627.3 NP_001618.2 Q13740 CD166_HUMAN activated leukocyte cell adhesion molecule 241 cell adhesion|signal transduction integral to membrane receptor binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GCAGTATTTGATATTTACTGT 0.323000 6 31 0 0 0.021553 0 0 BSCL2 26580 broad.mit.edu 37 11 62457987 62457987 + Missense_Mutation SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:62457987C>A ENST00000433053.1 - 12 1797 c.1241G>T c.(1240-1242)gGc>gTc p.G414V BSCL2_ENST00000405837.1_Missense_Mutation_p.G416V|BSCL2_ENST00000403550.1_Missense_Mutation_p.G350V|BSCL2_ENST00000360796.5_Missense_Mutation_p.G414V|BSCL2_ENST00000407022.3_Missense_Mutation_p.G350V|BSCL2_ENST00000278893.7_3'UTR|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000421906.1_Missense_Mutation_p.G350V Q96G97 BSCL2_HUMAN Berardinelli-Seip congenital lipodystrophy 2 (seipin) 350 cell death integral to endoplasmic reticulum membrane endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 12 TTCCCAGGAGCCTGAACCTGG 0.572000 3 41 0.004672 0.00489898 0.004672 1 0 COL11A1 1301 broad.mit.edu 37 1 103471837 103471837 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:103471837G>A ENST00000358392.2 - 16 2071 c.1754C>T c.(1753-1755)aCg>aTg p.T585M COL11A1_ENST00000353414.4_Missense_Mutation_p.T534M|COL11A1_ENST00000370096.3_Missense_Mutation_p.T573M|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.T457M NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 573 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) AGGTTTTCCCGTTGGACCAGG 0.348000 11 63 0 0 0.016723 0 0 AP4M1 9179 broad.mit.edu 37 7 99701070 99701070 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr7:99701070G>A ENST00000429084.1 + 5 569 c.411G>A c.(409-411)ctG>ctA p.L137L AP4M1_ENST00000359593.4_Silent_p.L130L|AP4M1_ENST00000422582.1_Silent_p.L2L|AP4M1_ENST00000421755.1_Silent_p.L130L O00189 AP4M1_HUMAN adaptor-related protein complex 4, mu 1 subunit 130 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|coated pit|Golgi trans cisterna transporter activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 17 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CGGAGATGCTGAGGAATTTCA 0.537000 8 70 0 0 0.038147 0 0 SLMAP 7871 broad.mit.edu 37 3 57875802 57875802 + Silent SNP G G A rs148417939 TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:57875802G>A ENST00000383718.3 + 13 1370 c.1272G>A c.(1270-1272)gcG>gcA p.A424A SLMAP_ENST00000449503.2_Silent_p.A390A|SLMAP_ENST00000428312.1_Silent_p.A428A|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.A411A|SLMAP_ENST00000295951.3_Silent_p.A411A|SLMAP_ENST00000472546.1_3'UTR|SLMAP_ENST00000442599.2_5'UTR Q14BN4 SLMAP_HUMAN sarcolemma associated protein 428 muscle contraction|protein folding integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum unfolded protein binding endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2) 18 BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182) TAACCAAAGCGGTAGAAGAAA 0.393000 3 51 0 0 0.009096 0 0 VAPA 9218 broad.mit.edu 37 18 9931855 9931855 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr18:9931855C>G ENST00000400000.2 + 2 383 c.128C>G c.(127-129)tCg>tGg p.S43W VAPA_ENST00000584796.1_3'UTR|VAPA_ENST00000340541.4_Missense_Mutation_p.S43W NM_003574.5|NM_194434.2 NP_003565.4|NP_919415.2 Q9P0L0 VAPA_HUMAN VAMP (vesicle-associated membrane protein)-associated protein A, 33kDa 43 MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity breast(1)|lung(2)|prostate(1) 4 CGAAATCCATCGGATAGAAAA 0.393000 4 90 0 0 0.021553 0 0 CRBN 51185 broad.mit.edu 37 3 3215782 3215782 + Missense_Mutation SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:3215782A>G ENST00000231948.4 - 3 360 c.338T>C c.(337-339)tTa>tCa p.L113S CRBN_ENST00000432408.2_Missense_Mutation_p.L112S NM_016302.3 NP_057386.2 Q96SW2 CRBN_HUMAN cereblon 113 Lon. proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus ATP-dependent peptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 11 Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079) TTTCTGAATTAAATTCCGCAC 0.408000 4 54 0 0 0.009096 0 0 SUPT16H 11198 broad.mit.edu 37 14 21825367 21825367 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:21825367C>T ENST00000216297.2 - 22 2987 c.2649G>A c.(2647-2649)aaG>aaA p.K883K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 883 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TCAACCATTCCTTGATGGGGT 0.413000 3 16 0 0 0.009096 0 0 MARCH6 10299 broad.mit.edu 37 5 10423860 10423860 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:10423860G>C ENST00000274140.5 + 23 2429 c.2297G>C c.(2296-2298)gGa>gCa p.G766A MARCH6_ENST00000449913.2_Missense_Mutation_p.G718A|MARCH6_ENST00000510792.1_Missense_Mutation_p.G464A|MARCH6_ENST00000503788.1_Missense_Mutation_p.G661A NM_005885.2 NP_005876.2 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase 766 protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3) 54 TGGGCACTTGGAGTCCTGCAT 0.358000 3 25 0 0 0.004672 0 0 RUNX2 860 broad.mit.edu 37 6 45480007 45480007 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:45480007C>T ENST00000371438.1 + 6 1242 c.884C>T c.(883-885)cCg>cTg p.P295L RUNX2_ENST00000465038.2_Missense_Mutation_p.P295L|RUNX2_ENST00000576263.1_Missense_Mutation_p.P295L|RUNX2_ENST00000352853.5_Missense_Mutation_p.P363L|RUNX2_ENST00000359524.5_Missense_Mutation_p.P281L|RUNX2_ENST00000371436.6_Missense_Mutation_p.P295L|RUNX2_ENST00000541979.1_Missense_Mutation_p.P363L|RUNX2_ENST00000371432.3_Missense_Mutation_p.P281L NM_001024630.3 NP_001019801.3 Q13950 RUNX2_HUMAN runt-related transcription factor 2 295 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CAGTCTTCCCCGCCGTGGTCC 0.532000 8 95 0 0 0.047766 0 0 SLC6A3 6531 broad.mit.edu 37 5 1416262 1416262 + Missense_Mutation SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:1416262C>A ENST00000270349.9 - 7 1109 c.982G>T c.(982-984)Gtg>Ttg p.V328L SLC6A3_ENST00000453492.2_Missense_Mutation_p.V328L NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 328 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GCGATCAGCACCCCGAACCCC 0.617000 4 61 0.00909568 0.00942312 0.009096 1 0 MEOX2 4223 broad.mit.edu 37 7 15725557 15725557 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr7:15725557C>T ENST00000262041.5 - 1 880 c.471G>A c.(469-471)gcG>gcA p.A157A NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 157 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) TCTCCGCCTCCGCAGGTGACA 0.711000 15 200 0 0 0.028581 0 0 MYO1D 4642 broad.mit.edu 37 17 31094700 31094700 + Missense_Mutation SNP T T A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:31094700T>A ENST00000318217.5 - 7 1089 c.785A>T c.(784-786)gAg>gTg p.E262V MYO1D_ENST00000583621.1_Missense_Mutation_p.E262V|MYO1D_ENST00000394649.4_Missense_Mutation_p.E174V|MYO1D_ENST00000579584.1_Missense_Mutation_p.E262V NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 262 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) TTGGATCTCCTCAGGTTTGAA 0.423000 6 43 0 0 0.021553 0 0 CACNA1B 774 broad.mit.edu 37 9 140946543 140946543 + Splice_Site SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:140946543G>A ENST00000277549.5 + 26 3867 c.e26-1 CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000371372.1_Splice_Site Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CTCCCTTCTAGAGGATCCAAA 0.572000 7 11 0 0 0.029380 0 0 COL7A1 1294 broad.mit.edu 37 3 48629337 48629337 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:48629337C>G ENST00000328333.8 - 10 1458 c.1351G>C c.(1351-1353)Gag>Cag p.E451Q COL7A1_ENST00000454817.1_Missense_Mutation_p.E451Q NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 451 Fibronectin type-III 3.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGACCAGTCTCACGCCGCCAT 0.632000 14 105 0 0 0.024245 0 0 POU2F3 25833 broad.mit.edu 37 11 120170369 120170369 + Missense_Mutation SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:120170369C>A ENST00000260264.4 + 5 335 c.301C>A c.(301-303)Ctg>Atg p.L101M POU2F3_ENST00000543440.2_Missense_Mutation_p.L99M NM_001244682.1 NP_001231611.1 Q9UKI9 PO2F3_HUMAN POU class 2 homeobox 3 99 negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GCAGCTTGTGCTGGTTCCCGG 0.552000 OREG0021419 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 66 0.00448238 0.00471925 0.047766 1 0 PXMP2 5827 broad.mit.edu 37 12 133277837 133277837 + Splice_Site SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:133277837G>A ENST00000545677.1 + 3 218 c.13_splice c.e3-1 p.G5_splice PXMP2_ENST00000428960.2_Splice_Site_p.G41_splice|PXMP2_ENST00000317479.3_Splice_Site_p.G134_splice|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000539093.1_Splice_Site_p.G5_splice|RP13-672B3.2_ENST00000537262.1_Splice_Site_p.G5_splice Q9NR77 PXMP2_HUMAN peroxisomal membrane protein 2, 22kDa 0 integral to membrane|peroxisomal membrane protein binding large_intestine(1)|liver(2)|lung(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06) CCTTTGCAGGGGAAAGACGCC 0.572000 15 165 0 0 0.028581 0 0 KIF5B 3799 broad.mit.edu 37 10 32329358 32329358 + Missense_Mutation SNP A A T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:32329358A>T ENST00000302418.4 - 3 699 c.242T>A c.(241-243)aTa>aAa p.I81K NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 81 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) ATATGCAAATATTGTTCCATT 0.328000 T """RET, ALK""" NSCLC 5 34 0 0 0.014758 0 0 ZMYM3 9203 broad.mit.edu 37 X 70470529 70470529 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:70470529C>T ENST00000373998.1 - 5 1523 c.826G>A c.(826-828)Gat>Aat p.D276N ZMYM3_ENST00000353904.2_Missense_Mutation_p.D276N|ZMYM3_ENST00000373978.1_Intron|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.D278N|ZMYM3_ENST00000373982.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000373981.1_Missense_Mutation_p.D276N|ZMYM3_ENST00000373988.1_Missense_Mutation_p.D278N|ZMYM3_ENST00000314425.5_Missense_Mutation_p.D276N NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 276 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) AAGTCCTCATCATTGGGGTCA 0.567000 4 14 0 0 0.009096 0 0 AKAP6 9472 broad.mit.edu 37 14 33292668 33292668 + Missense_Mutation SNP C C G rs113957453 TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:33292668C>G ENST00000280979.4 + 13 5819 c.5649C>G c.(5647-5649)ttC>ttG p.F1883L AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1883 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 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) AAACTATTTTCAAAGTTAATA 0.353000 3 28 0 0 0.004672 0 0 NUPL1 9818 broad.mit.edu 37 13 25914137 25914137 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr13:25914137C>T ENST00000381736.3 + 16 1915 c.1665C>T c.(1663-1665)ttC>ttT p.F555F NUPL1_ENST00000381718.3_Silent_p.F543F NM_001008564.1|NM_014089.3 NP_001008564.1|NP_054808.1 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 555 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1) 16 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) GGTTTAACTTCAGCAATCCTG 0.418000 4 129 0 0 0.009096 0 0 MKI67 4288 broad.mit.edu 37 10 129914118 129914118 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:129914118G>A ENST00000368654.3 - 7 929 c.554C>T c.(553-555)tCa>tTa p.S185L MKI67_ENST00000368653.3_Intron NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 185 cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGCATGTTCTGAGGAATGAAC 0.413000 17 104 0 0 0.043863 0 0 IARS 3376 broad.mit.edu 37 9 95013063 95013063 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:95013063C>T ENST00000375643.3 - 23 2627 c.2361G>A c.(2359-2361)ctG>ctA p.L787L IARS_ENST00000443024.2_Silent_p.L787L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.L677L NM_013417.2 NP_038203.2 P41252 SYIC_HUMAN isoleucyl-tRNA synthetase 787 isoleucyl-tRNA aminoacylation cytosol|nucleus|soluble fraction ATP binding|isoleucine-tRNA ligase activity|protein binding breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 35 L-Isoleucine(DB00167) CAGGGTCAATCAGCACCTTTA 0.453000 5 23 0 0 0.014758 0 0 RP11-45M22.4 0 broad.mit.edu 37 17 17120452 17120452 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:17120452G>A ENST00000427497.3 - 6 729 c.229C>T c.(229-231)Cat>Tat p.H77Y FLCN_ENST00000285071.4_Silent_p.L369L GGTTCCCCATGAGAACGTGCC 0.522000 5 36 0 0 0.014758 0 0 SAMD4B 55095 broad.mit.edu 37 19 39867397 39867397 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:39867397G>A ENST00000314471.6 + 9 2105 c.1070G>A c.(1069-1071)cGt>cAt p.R357H SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.R357H NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 357 SAM. protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CAGAAGCTGCGTGAGAGACAG 0.557000 8 36 0 0 0.047766 0 0 ASPN 54829 broad.mit.edu 37 9 95219641 95219641 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:95219641C>G ENST00000375544.3 - 8 1315 c.1072G>C c.(1072-1074)Gaa>Caa p.E358Q CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_3'UTR NM_017680.4 NP_060150.4 Q9BXN1 ASPN_HUMAN asporin 358 bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 9 GGTTGCATTTCCCAGTATTTC 0.373000 6 46 0 0 0.021553 0 0 GDF2 2658 broad.mit.edu 37 10 48414224 48414224 + Missense_Mutation SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:48414224A>G ENST00000249598.1 - 2 803 c.644T>C c.(643-645)gTc>gCc p.V215A NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 215 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GTCGGACCGGACCCAGCGCTT 0.587000 9 103 0 0 0.008291 0 0 EP400 57634 broad.mit.edu 37 12 132502171 132502171 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:132502171G>A ENST00000333577.4 + 21 4232 c.4123G>A c.(4123-4125)Gag>Aag p.E1375K EP400_ENST00000332482.4_Missense_Mutation_p.E1302K|EP400_ENST00000330386.6_Missense_Mutation_p.E1339K|EP400_ENST00000389562.2_Missense_Mutation_p.E1338K|EP400_ENST00000389561.2_Missense_Mutation_p.E1339K Q96L91 EP400_HUMAN E1A binding protein p400 1375 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TGGGCTCGTCGAGCCCCGGCA 0.612000 7 65 0 0 0.029380 0 0 DDB1 1642 broad.mit.edu 37 11 61079299 61079299 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:61079299G>A ENST00000301764.7 - 18 2631 c.2234C>T c.(2233-2235)aCg>aTg p.T745M DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 745 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding p.T745M(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GCCCCCACTCGTGTCTTGGAC 0.552000 Nucleotide excision repair (NER) 5 64 0 0 0.014758 0 0 KIF5B 3799 broad.mit.edu 37 10 32329361 32329361 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:32329361G>A ENST00000302418.4 - 3 696 c.239C>T c.(238-240)aCa>aTa p.T80I NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 80 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) TGCAAATATTGTTCCATTATA 0.333000 T """RET, ALK""" NSCLC 4 34 0 0 0.009096 0 0 ICAM1 3383 broad.mit.edu 37 19 10394872 10394872 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:10394872C>T ENST00000264832.3 + 4 1126 c.801C>T c.(799-801)aaC>aaT p.N267N CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Silent_p.N45N NM_000201.2 NP_000192.2 P05362 ICAM1_HUMAN intercellular adhesion molecule 1 267 Ig-like C2-type 3. adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor extracellular space|integral to plasma membrane integrin binding|transmembrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06) Natalizumab(DB00108)|Simvastatin(DB00641) CCTATGGCAACGACTCCTTCT 0.632000 9 77 0 0 0.047766 0 0 TRERF1 55809 broad.mit.edu 37 6 42231033 42231033 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:42231033G>A ENST00000541110.1 - 8 2477 c.1909C>T c.(1909-1911)Cac>Tac p.H637Y TRERF1_ENST00000340840.2_Intron|TRERF1_ENST00000372922.4_Intron|TRERF1_ENST00000372917.4_Intron|TRERF1_ENST00000354325.2_Intron Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 628 Interacts with CREBBP.|Pro-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGGGTGAGTGTGGGGGAGAG 0.657000 15 85 0 0 0.020292 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58564809 58564809 + Missense_Mutation SNP G G T rs149388605 byFrequency TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:58564809G>T ENST00000282326.1 + 6 864 c.617G>T c.(616-618)cGc>cTc p.R206L NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 206 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCCCGGGCCCGCTTGCCTCTG 0.662000 8 76 1.26484e-09 1.37645e-09 0.038147 1 0 NF1 4763 broad.mit.edu 37 17 29559140 29559140 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:29559140C>T ENST00000358273.4 + 25 3630 c.3247C>T c.(3247-3249)Ctc>Ttc p.L1083F NF1_ENST00000356175.3_Missense_Mutation_p.L1083F NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 1083 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCTAGCTGGTCTCCCTCTGCA 0.353000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 4 24 0 0 0.014758 0 0 CPSF2 53981 broad.mit.edu 37 14 92625471 92625471 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:92625471G>A ENST00000298875.4 + 14 2251 c.1966G>A c.(1966-1968)Gat>Aat p.D656N NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 656 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) ACTAAAGGATGATGGAGAAGA 0.413000 5 44 0 0 0.029380 0 0 DISC1 27185 broad.mit.edu 37 1 231830190 231830190 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:231830190G>A ENST00000439617.2 + 2 739 c.686G>A c.(685-687)tGc>tAc p.C229Y DISC1_ENST00000317586.4_Missense_Mutation_p.C229Y|DISC1_ENST00000602281.1_Missense_Mutation_p.C229Y|DISC1_ENST00000366636.4_Missense_Mutation_p.C229Y|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000539444.1_Missense_Mutation_p.C229Y|DISC1_ENST00000535983.1_Missense_Mutation_p.C229Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.C229Y|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366633.3_Missense_Mutation_p.C229Y NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 229 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GCAGAAGGCTGCCCACCATCC 0.617000 9 58 0 0 0.006214 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418199 105418199 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:105418199C>T ENST00000333244.5 - 7 3708 c.3589G>A c.(3589-3591)Gtg>Atg p.V1197M AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 1197 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 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) GGGAGACTCACGTCGGCCTCC 0.617000 11 191 0 0 0.018920 0 0 EP300 2033 broad.mit.edu 37 22 41568590 41568590 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr22:41568590G>A ENST00000263253.7 + 28 5759 c.4540G>A c.(4540-4542)Gaa>Aaa p.E1514K RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1514 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 NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CAATGTTCTGGAAGAAAGCAT 0.398000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 4 26 0 0 0.009096 0 0 HMHA1 23526 broad.mit.edu 37 19 1073166 1073166 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:1073166G>A ENST00000313093.2 + 3 671 c.440G>A c.(439-441)cGc>cAc p.R147H HMHA1_ENST00000592335.1_Missense_Mutation_p.A28T|HMHA1_ENST00000536472.1_5'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.R174H|HMHA1_ENST00000586866.1_Missense_Mutation_p.R151H|HMHA1_ENST00000539243.2_Missense_Mutation_p.R163H|HMHA1_ENST00000543365.1_Missense_Mutation_p.R30H NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 147 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGCCCGCCGCCCGCGGGCC 0.647000 8 89 0 0 0.047766 0 0 LRCH2 57631 broad.mit.edu 37 X 114357438 114357438 + Missense_Mutation SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:114357438A>G ENST00000317135.8 - 19 2015 c.1985T>C c.(1984-1986)gTa>gCa p.V662A LRCH2_ENST00000538422.1_Missense_Mutation_p.V645A NM_020871.3 NP_065922.3 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 2 662 CH. breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 19 AGGCAAAATTACTTTTAACCT 0.328000 3 17 0 0 0.004672 0 0 MRTO4 51154 broad.mit.edu 37 1 19583616 19583616 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:19583616G>A ENST00000330263.4 + 4 547 c.250G>A c.(250-252)Gaa>Aaa p.E84K NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog (S. cerevisiae) 84 ribosome biogenesis nuclear membrane|nucleolus breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1) 8 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CCCATCTGATGAATACAAAGA 0.537000 18 234 0 0 0.049695 0 0 UBXN4 23190 broad.mit.edu 37 2 136536546 136536546 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:136536546C>T ENST00000272638.9 + 11 1393 c.1082C>T c.(1081-1083)tCg>tTg p.S361L UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 361 UBX. response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 GGTAATTTTTCGTTAGCAACC 0.358000 7 60 0 0 0.038147 0 0 CYB5D1 124637 broad.mit.edu 37 17 7761549 7761549 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:7761549G>A ENST00000332439.4 + 1 249 c.97G>A c.(97-99)Gac>Aac p.D33N CYB5D1_ENST00000571846.1_Missense_Mutation_p.D33N|LSMD1_ENST00000576861.1_Intron|LSMD1_ENST00000570555.1_Intron|CYB5D1_ENST00000570446.1_Intron NM_144607.4 NP_653208.2 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 33 Cytochrome b5 heme-binding. heme binding breast(1)|endometrium(1)|large_intestine(2)|skin(2) 6 all_cancers(10;0.11)|Prostate(122;0.219) CAGGCCCGAAGACCTCTGGGT 0.617000 OREG0024147 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 95 0 0 0.038147 0 0 CYP4F2 8529 broad.mit.edu 37 19 16006353 16006353 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:16006353G>A ENST00000221700.5 - 3 401 c.306C>T c.(304-306)tgC>tgT p.C102C CYP4F2_ENST00000011989.7_Intron|CYP4F2_ENST00000592328.1_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 102 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding p.C102C(1) NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGTCGGGGTGGCACAAACTGA 0.597000 4 185 0 0 0.014758 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618774 89618774 + Silent SNP A A G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:89618774A>G ENST00000323061.5 - 1 612 c.132T>C c.(130-132)ccT>ccC p.P44P HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 44 nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) CCGCGCTGTCAGGGTCACCAg 0.642000 3 109 0 0 0.004672 0 0 FAM71F1 84691 broad.mit.edu 37 7 128356921 128356921 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr7:128356921C>T ENST00000485070.1 + 3 412 c.68C>T c.(67-69)cCt>cTt p.P23L FAM71F1_ENST00000315184.5_Silent_p.L102L|FAM71F1_ENST00000469348.1_3'UTR Q96KD3 F71F1_HUMAN family with sequence similarity 71, member F1 10 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 CACCATGGCCCTGGGGGTGAC 0.577000 6 32 0 0 0.021553 0 0 KDM4A 9682 broad.mit.edu 37 1 44169928 44169928 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:44169928G>A ENST00000372396.3 + 22 3216 c.3082G>A c.(3082-3084)Gag>Aag p.E1028K KDM4A-AS1_ENST00000439057.1_RNA|KDM4A-AS1_ENST00000398804.3_RNA|KDM4A-AS1_ENST00000434346.1_RNA|KDM4A-AS1_ENST00000453015.1_RNA NM_014663.2 NP_055478.2 O75164 KDM4A_HUMAN lysine (K)-specific demethylase 4A 1028 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 37 GCGCTTCAATGAGATTTTCAC 0.438000 6 153 0 0 0.021553 0 0 MAP7D2 256714 broad.mit.edu 37 X 20033405 20033405 + Missense_Mutation SNP T T G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:20033405T>G ENST00000379651.3 - 11 1580 c.1562A>C c.(1561-1563)cAg>cCg p.Q521P MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q406P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q469P|MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q476P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q562P NM_152780.3 NP_689993.2 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 521 NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 37 GAGACGCATCTGTTCAGCTAC 0.458000 14 62 0 0 0.028581 0 0 CNTN2 6900 broad.mit.edu 37 1 205039123 205039123 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:205039123C>T ENST00000331830.4 + 18 2649 c.2365C>T c.(2365-2367)Cgc>Tgc p.R789C NM_005076.3 NP_005067.1 Q02246 CNTN2_HUMAN contactin 2 (axonal) 789 Fibronectin type-III 2. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 54 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GGTCAAGATCCGCAGCTACAA 0.662000 9 71 0 0 0.006214 0 0 PCDH11Y 83259 broad.mit.edu 37 Y 4968225 4968225 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrY:4968225G>A ENST00000333703.4 + 5 3086 c.2573G>A c.(2572-2574)cGc>cAc p.R858H PCDH11Y_ENST00000362095.5_Missense_Mutation_p.R869H|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.R869H NM_001278619.1|NM_032971.2 NP_001265548.1|NP_116753.1 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked 869 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 GTAAGATGTCGCCAGGCACCA 0.448000 22 44 0 0 0.014323 0 0 BPIFB2 80341 broad.mit.edu 37 20 31611154 31611154 + Missense_Mutation SNP G G A rs142508681 TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr20:31611154G>A ENST00000170150.3 + 16 1537 c.1342G>A c.(1342-1344)Gtg>Atg p.V448M NM_025227.1 NP_079503.1 Q8N4F0 BPIL1_HUMAN BPI fold containing family B, member 2 448 extracellular region lipid binding TCAGGGCTACGTGGTGATATC 0.592000 6 57 0 0 0.021553 0 0 TUBA1A 7846 broad.mit.edu 37 12 49580117 49580117 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:49580117G>A ENST00000546918.1 - 2 589 c.503C>T c.(502-504)tCg>tTg p.S168L TUBA1A_ENST00000550767.1_Silent_p.L82L|TUBA1A_ENST00000301071.7_Silent_p.L117L|TUBA1A_ENST00000295766.5_Silent_p.L117L Q71U36 TBA1A_HUMAN tubulin, alpha 1a 0 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|structural molecule activity stomach(1)|upper_aerodigestive_tract(1) 2 GGTCCAACACGAGGTCAATGA 0.413000 16 146 0 0 0.055883 0 0 RXRA 6256 broad.mit.edu 37 9 137328333 137328333 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:137328333G>A ENST00000540193.1 + 9 1894 c.971G>A c.(970-972)cGc>cAc p.R324H RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Missense_Mutation_p.R421H P19793 RXRA_HUMAN retinoid X receptor, alpha 421 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 breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 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) CTCTTGCTCCGCCTGCCGGCT 0.607000 9 110 0 0 0.008291 0 0 USP6NL 9712 broad.mit.edu 37 10 11567452 11567452 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:11567452C>T ENST00000379237.1 - 4 482 c.88G>A c.(88-90)Gag>Aag p.E30K USP6NL_ENST00000277575.5_Missense_Mutation_p.E47K NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 30 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GGTTCAATCTCTGCACCTTCT 0.328000 9 67 0 0 0.006214 0 0 RP11-383M4.6 0 broad.mit.edu 37 9 84564179 84564179 + RNA SNP A A C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:84564179A>C ENST00000585776.1 - 0 942 SPATA31D3_ENST00000334208.4_RNA CAGAAGAAAGAGCCATGCTAT 0.488000 5 5 0 0 0.014758 0 0 ACSM2B 348158 broad.mit.edu 37 16 20554519 20554519 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr16:20554519G>C ENST00000329697.6 - 11 1515 c.1347C>G c.(1345-1347)atC>atG p.I449M ACSM2B_ENST00000567001.1_Missense_Mutation_p.I449M|ACSM2B_ENST00000565232.1_Missense_Mutation_p.I449M|ACSM2B_ENST00000565322.1_Missense_Mutation_p.I370M NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 449 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTTCATCTTTGATTCCCCGGT 0.498000 15 262 0 0 0.024245 0 0 HIST1H2BH 8345 broad.mit.edu 37 6 26252218 26252218 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:26252218G>C ENST00000356350.2 + 1 340 c.340G>C c.(340-342)Gag>Cag p.E114Q NM_003524.2 NP_003515.1 Q93079 H2B1H_HUMAN histone cluster 1, H2bh 114 nucleosome assembly nucleosome|nucleus DNA binding p.E114K(2)|p.E114Q(1) NS(3)|breast(2)|large_intestine(1)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 17 CGCCGTGTCCGAGGGCACTAA 0.537000 4 87 0 0 0.009096 0 0 NAB1 4664 broad.mit.edu 37 2 191524152 191524152 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:191524152C>G ENST00000337386.5 + 4 711 c.250C>G c.(250-252)Cag>Gag p.Q84E NAB1_ENST00000409581.1_Missense_Mutation_p.Q84E|NAB1_ENST00000409641.1_Missense_Mutation_p.Q84E|NAB1_ENST00000357215.5_Missense_Mutation_p.Q84E NM_005966.3 NP_005957.2 Q13506 NAB1_HUMAN NGFI-A binding protein 1 (EGR1 binding protein 1) 84 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1) 7 OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109) GCTTTTCAATCAGCCACTGAC 0.493000 4 82 0 0 0.009096 0 0 SOX9 6662 broad.mit.edu 37 17 70120527 70120527 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:70120527G>A ENST00000245479.2 + 3 1901 c.1529G>A c.(1528-1530)tGa>tAa p.*510* NM_000346.3 NP_000337.1 P48436 SOX9_HUMAN SRY (sex determining region Y)-box 9 0 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2) 26 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) ACTCGACCTTGAGGAGGCCTC 0.552000 5 80 0 0 0.014758 0 0 FAT1 2195 broad.mit.edu 37 4 187535344 187535344 + Splice_Site SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:187535344C>T ENST00000441802.2 - 12 9439 c.e12+1 NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCCATCATTACCTGTGTCTGG 0.368000 HNSCC(5;0.00058) 36 108 0 0 0.021022 0 0 ZNF251 90987 broad.mit.edu 37 8 145947129 145947129 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr8:145947129G>A ENST00000292562.7 - 5 2191 c.1916C>T c.(1915-1917)cCa>cTa p.P639L ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 639 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) CTGCTGAGGTGGTGTGAGCTG 0.403000 8 51 0 0 0.047766 0 0 CTNND2 1501 broad.mit.edu 37 5 11346704 11346704 + Nonsense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:11346704G>A ENST00000304623.8 - 9 1597 c.1408C>T c.(1408-1410)Cag>Tag p.Q470* CTNND2_ENST00000458100.2_Nonsense_Mutation_p.Q37*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.Q133*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.Q470*|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.Q379* NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 470 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCTGTGCGCTGCAAGGGGACG 0.607000 7 58 0 0 0.029380 0 0 SPEG 10290 broad.mit.edu 37 2 220355164 220355164 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:220355164G>A ENST00000312358.7 + 37 9087 c.8955G>A c.(8953-8955)gaG>gaA p.E2985E AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 2985 Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CGTGCCGGGAGAATGCCACGG 0.672000 8 59 0 0 0.047766 0 0 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:7577120C>T ENST00000420246.2 - 8 950 c.818G>A c.(817-819)cGt>cAt p.R273H TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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|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|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 repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 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) GGCACAAACACGCACCTCAAA 0.542000 R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM) 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 Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, 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) 4 31 0 0 0.009096 0 0 DNALI1 7802 broad.mit.edu 37 1 38027808 38027808 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:38027808G>A ENST00000296218.7 + 5 779 c.769G>A c.(769-771)Gag>Aag p.E257K DNALI1_ENST00000541606.1_Missense_Mutation_p.E109K|DNALI1_ENST00000497858.1_3'UTR NM_003462.3 NP_003453.2 O14645 IDLC_HUMAN dynein, axonemal, light intermediate chain 1 235 cellular component movement|single fertilization axonemal dynein complex microtubule motor activity breast(1)|kidney(1)|large_intestine(2)|ovary(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCACAATGAGGAGATTCAGTT 0.587000 3 24 0 0 0.004672 0 0 ARMC5 79798 broad.mit.edu 37 16 31477278 31477278 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr16:31477278G>A ENST00000408912.3 + 7 2574 c.2257G>A c.(2257-2259)Gcg>Acg p.A753T ARMC5_ENST00000563544.1_Missense_Mutation_p.A658T|ARMC5_ENST00000457010.2_3'UTR|ARMC5_ENST00000538189.1_Missense_Mutation_p.A690T|ARMC5_ENST00000268314.4_Missense_Mutation_p.A658T|ARMC5_ENST00000412665.2_Missense_Mutation_p.A302T Q96C12 ARMC5_HUMAN armadillo repeat containing 5 658 BTB. binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 AGTGGCCTGCGCGCTGACCCT 0.652000 12 71 0 0 0.020292 0 0 KIAA1456 57604 broad.mit.edu 37 8 12878806 12878806 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr8:12878806G>A ENST00000524591.2 + 5 1107 c.618G>A c.(616-618)caG>caA p.Q206Q KIAA1456_ENST00000447063.2_Intron NM_001099677.1|NM_020844.2 NP_001093147.1|NP_065895.2 Q9P272 K1456_HUMAN KIAA1456 206 methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 TTAAAGAGCAGTGTGGTTCAA 0.478000 12 106 0 0 0.013537 0 0 THEMIS 387357 broad.mit.edu 37 6 128134839 128134839 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr6:128134839G>A ENST00000368250.1 - 5 1208 c.710C>T c.(709-711)tCa>tTa p.S237L THEMIS_ENST00000543064.1_Missense_Mutation_p.S316L|THEMIS_ENST00000537166.1_Missense_Mutation_p.S281L|THEMIS_ENST00000368248.2_Missense_Mutation_p.S316L Q8N1K5 THMS1_HUMAN thymocyte selection associated 316 CABIT 1. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3) 60 TAAGATTCTTGATGCCTGGTA 0.438000 4 115 0 0 0.009096 0 0 ENAM 10117 broad.mit.edu 37 4 71509145 71509145 + Nonsense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:71509145C>T ENST00000396073.3 + 9 2283 c.2002C>T c.(2002-2004)Caa>Taa p.Q668* ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 668 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) CTTTCCTGGACAAAATAGATG 0.443000 9 74 0 0 0.047766 0 0 HRAS 3265 broad.mit.edu 37 11 534289 534289 + Missense_Mutation SNP C C T rs104894229 TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:534289C>T ENST00000417302.1 - 2 221 c.34G>A c.(34-36)Ggc>Agc p.G12S HRAS_ENST00000451590.1_Missense_Mutation_p.G12S|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Missense_Mutation_p.G12S|HRAS_ENST00000311189.7_Missense_Mutation_p.G12S|HRAS_ENST00000397596.2_Missense_Mutation_p.G12S NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 12 G -> A (in FCSS).|G -> C (in FCSS).|G -> E (in FCSS).|G -> S (in FCSS, OSCC and CMEMS).|G -> V (in FCSS, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G12S(58)|p.G12C(25)|p.G12R(12) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) CCCACACCGCCGGCGCCCACC 0.647000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 5 41 0 0 0.014758 0 0 BMI1 648 broad.mit.edu 37 10 22618452 22618452 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:22618452C>T ENST00000376663.3 + 10 1467 c.962C>T c.(961-963)tCa>tTa p.S321L COMMD3-BMI1_ENST00000602390.1_Missense_Mutation_p.S464L NM_005180.8 NP_005171.4 BMI1 polycomb ring finger oncogene breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1) 12 AATGGGTCATCAGCAACTTCT 0.393000 8 79 0 0 0.047766 0 0 INADL 10207 broad.mit.edu 37 1 62235043 62235043 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:62235043G>A ENST00000371158.2 + 5 587 c.473G>A c.(472-474)gGa>gAa p.G158E INADL_ENST00000316485.6_Missense_Mutation_p.G158E NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 158 PDZ 1. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CAAAATCTCGGAAAAGTTGAT 0.433000 8 70 0 0 0.047766 0 0 NCAM1 4684 broad.mit.edu 37 11 113102481 113102481 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:113102481G>A ENST00000316851.7 + 9 1174 c.1174G>A c.(1174-1176)Ggc>Agc p.G392S NCAM1_ENST00000401611.2_Missense_Mutation_p.G401S|NCAM1_ENST00000533760.1_Missense_Mutation_p.G274S|NCAM1_ENST00000397957.4_3'UTR NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 402 Ig-like C2-type 4. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane p.G401S(2)|p.G392S(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CAACACCATCGGCCAGGACTC 0.582000 9 99 0 0 0.008291 0 0 AVP 551 broad.mit.edu 37 20 3065205 3065205 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr20:3065205C>G ENST00000380293.3 - 1 165 c.116G>C c.(115-117)aGa>aCa p.R39T NM_000490.4 NP_000481.2 P01185 NEU2_HUMAN arginine vasopressin 39 cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport cytosol|soluble fraction caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding central_nervous_system(1)|prostate(1)|skin(1) 3 COAD - Colon adenocarcinoma(99;0.00643) AAGTACCTGTCTCAGCTCCAG 0.642000 5 155 0 0 0.014758 0 0 NLRP7 199713 broad.mit.edu 37 19 55450785 55450785 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:55450785G>A ENST00000588756.1 - 6 1888 c.1402C>T c.(1402-1404)Cac>Tac p.H468Y NLRP7_ENST00000328092.5_Missense_Mutation_p.H468Y|NLRP7_ENST00000592784.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000590030.1_Missense_Mutation_p.H468Y|NLRP7_ENST00000340844.2_Missense_Mutation_p.H468Y|NLRP7_ENST00000448121.2_Missense_Mutation_p.H468Y|NLRP7_ENST00000446217.1_Missense_Mutation_p.H496Y Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 468 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AAGCTGAGGTGGATGAAGGAG 0.622000 3 40 0 0 0.009096 0 0 MAST4 375449 broad.mit.edu 37 5 66461496 66461496 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:66461496G>A ENST00000404260.3 + 29 6806 c.6498G>A c.(6496-6498)ccG>ccA p.P2166P MAST4_ENST00000405643.1_Silent_p.P1984P|MAST4_ENST00000403666.1_Silent_p.P1974P|MAST4_ENST00000261569.7_Silent_p.P1969P|MAST4_ENST00000403625.2_Silent_p.P2163P O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2166 Pro-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GCAGAGAGCCGGGGGCCAAGC 0.682000 3 11 0 0 0.004672 0 0 GSTM4 2948 broad.mit.edu 37 1 110199472 110199472 + Translation_Start_Site SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:110199472G>A ENST00000369833.1 + 0 229 GSTM4_ENST00000326729.5_Intron|GSTM4_ENST00000369836.4_Intron|GSTM4_ENST00000495742.1_Intron|GSTM4_ENST00000336075.5_Intron Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227) Glutathione(DB00143) AGCAACCCATGGTGGCCACCT 0.617000 6 56 0 0 0.029380 0 0 NAGA 4668 broad.mit.edu 37 22 42461814 42461814 + Silent SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr22:42461814C>T ENST00000396398.3 - 6 1219 c.687G>A c.(685-687)ctG>ctA p.L229L NAGA_ENST00000403363.1_Silent_p.L229L|NAGA_ENST00000402937.1_Silent_p.L229L NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 229 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CGAACCAATTCAGGATGGAGA 0.577000 5 55 0 0 0.014758 0 0 ACAP1 9744 broad.mit.edu 37 17 7253489 7253489 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:7253489C>G ENST00000158762.3 + 20 2211 c.2005C>G c.(2005-2007)Cga>Gga p.R669G NM_014716.3 NP_055531.1 Q15027 ACAP1_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 669 Required for interaction with GULP1. intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding p.R669G(1) NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1) 33 TCTGGGGGCTCGAGACTCTGA 0.637000 8 113 0 0 0.006214 0 0 ZNF521 25925 broad.mit.edu 37 18 22805793 22805793 + Nonsense_Mutation SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr18:22805793C>A ENST00000361524.3 - 4 2237 c.2089G>T c.(2089-2091)Gag>Tag p.E697* ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E477*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E697* NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 697 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding p.E697*(1) NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCACAACTCTCACAGATGTAA 0.453000 T PAX5 ALL 8 111 0.00307968 0.00325566 0.038147 1 0 PCDHGA7 56108 broad.mit.edu 37 5 140764270 140764270 + Missense_Mutation SNP G G T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:140764270G>T ENST00000518325.1 + 1 1804 c.1804G>T c.(1804-1806)Gcc>Tcc p.A602S PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018920.2 NP_061743.1 NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCCAGAACGCCTGGCTGTC 0.642000 11 118 1.5842e-08 1.71677e-08 0.016723 1 0 SH3BP1 23616 broad.mit.edu 37 22 38041500 38041500 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr22:38041500G>A ENST00000599616.1 + 8 715 c.715G>A c.(715-717)Gag>Aag p.E239K SH3BP1_ENST00000495174.1_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000336738.5_Missense_Mutation_p.E303K|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E303K|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E303K Q9Y3L3 3BP1_HUMAN SH3-domain binding protein 1 303 BAR. signal transduction cytoplasm GTPase activator activity|SH3 domain binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Melanoma(58;0.0574) GCTGCTTTCTGAGGGCATGAA 0.642000 14 85 0 0 0.020292 0 0 ROR1 4919 broad.mit.edu 37 1 64643982 64643982 + Nonsense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:64643982C>G ENST00000371079.1 + 9 2633 c.2258C>G c.(2257-2259)tCa>tGa p.S753* ROR1_ENST00000545203.1_Nonsense_Mutation_p.S204* NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 753 Ser/Thr-rich. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 GAGGGACTCTCAAGTCACACA 0.498000 5 67 0 0 0.014758 0 0 AMOT 154796 broad.mit.edu 37 X 112048305 112048305 + Missense_Mutation SNP C C T rs147627113 byFrequency TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:112048305C>T ENST00000371959.3 - 5 1645 c.1646G>A c.(1645-1647)cGt>cAt p.R549H AMOT_ENST00000371958.1_Missense_Mutation_p.R317H|AMOT_ENST00000524145.1_Missense_Mutation_p.R549H|AMOT_ENST00000371962.1_Missense_Mutation_p.R317H|AMOT_ENST00000304758.1_Missense_Mutation_p.R140H NM_001113490.1 NP_001106962.1 Q4VCS5 AMOT_HUMAN angiomotin 549 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 CTCCTTCTCACGCTGGCTTTC 0.498000 6 158 0 0 0.029380 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 3 57 0 0 0.004672 0 0 PLCB4 5332 broad.mit.edu 37 20 9317800 9317800 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr20:9317800C>G ENST00000378501.2 + 2 127 c.112C>G c.(112-114)Ctc>Gtc p.L38V PLCB4_ENST00000378473.3_Missense_Mutation_p.L38V|PLCB4_ENST00000334005.3_Missense_Mutation_p.L38V|PLCB4_ENST00000278655.4_Missense_Mutation_p.L38V|PLCB4_ENST00000414679.2_Missense_Mutation_p.L38V|PLCB4_ENST00000378493.1_Missense_Mutation_p.L38V|PLCB4_ENST00000492632.1_3'UTR NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 38 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 ACCCAACTGCCTCTTCAAAGT 0.383000 3 75 0 0 0.004672 0 0 STXBP5L 9515 broad.mit.edu 37 3 120977900 120977900 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:120977900C>T ENST00000273666.6 + 18 2114 c.1843C>T c.(1843-1845)Cgg>Tgg p.R615W STXBP5L_ENST00000497029.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000471454.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000472879.1_Missense_Mutation_p.R615W|STXBP5L_ENST00000492541.1_Missense_Mutation_p.R615W NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 615 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) TGTGAAGACACGGCCAGTGCG 0.373000 4 32 0 0 0.014758 0 0 AC015849.16 0 broad.mit.edu 37 17 34236351 34236351 + RNA SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:34236351C>T ENST00000587132.1 - 0 1676 TGTTCAACCTCTGTAGTGGGT 0.483000 7 98 0 0 0.029380 0 0 STRADB 55437 broad.mit.edu 37 2 202340452 202340452 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:202340452G>A ENST00000194530.3 + 7 900 c.535G>A c.(535-537)Ggc>Agc p.G179S STRADB_ENST00000392249.2_Missense_Mutation_p.G179S NM_001206864.1|NM_018571.5 NP_001193793.1|NP_061041.2 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 179 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1) 13 GCACCAAAATGGCTGTATTCA 0.338000 18 90 0 0 0.043863 0 0 GYLTL1B 120071 broad.mit.edu 37 11 45950273 45950273 + Silent SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:45950273C>G ENST00000531526.1 + 14 2154 c.2043C>G c.(2041-2043)acC>acG p.T681T GYLTL1B_ENST00000325468.5_Silent_p.T681T|GYLTL1B_ENST00000401752.1_Silent_p.T681T|GYLTL1B_ENST00000529052.1_Silent_p.T650T|GYLTL1B_ENST00000536139.1_Silent_p.T650T NM_152312.3 NP_689525.3 Q8N3Y3 LARG2_HUMAN glycosyltransferase-like 1B 681 muscle cell homeostasis Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 22 GBM - Glioblastoma multiforme(35;0.226) CCAGCCCCACCTATCGTGACT 0.637000 8 115 0 0 0.006214 0 0 OGDHL 55753 broad.mit.edu 37 10 50952758 50952758 + Missense_Mutation SNP T T C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:50952758T>C ENST00000374103.4 - 13 1755 c.1670A>G c.(1669-1671)tAt>tGt p.Y557C OGDHL_ENST00000419399.1_Missense_Mutation_p.Y500C|OGDHL_ENST00000432695.1_Missense_Mutation_p.Y348C NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 557 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 GGACCTGCCATAAGCCTCCTC 0.547000 6 56 0 0 0.047766 0 0 RPS27 6232 broad.mit.edu 37 1 153964115 153964115 + Silent SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:153964115C>G ENST00000368567.4 + 3 227 c.189C>G c.(187-189)ctC>ctG p.L63L RPS27_ENST00000392558.4_3'UTR|RPS27_ENST00000493224.1_3'UTR NM_001030.4 NP_001021.1 P42677 RS27_HUMAN ribosomal protein S27 63 cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleus DNA binding|structural constituent of ribosome|zinc ion binding kidney(1) 1 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCACTGTCCTCTGCCAGCCTA 0.398000 5 51 0 0 0.014758 0 0 ITGA6 3655 broad.mit.edu 37 2 173355777 173355777 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr2:173355777G>A ENST00000375221.2 + 22 3025 c.2822G>A c.(2821-2823)cGg>cAg p.R941Q AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000409532.1_Missense_Mutation_p.R783Q|ITGA6_ENST00000409080.1_Missense_Mutation_p.R902Q|ITGA6_ENST00000343713.4_Missense_Mutation_p.R897Q|ITGA6_ENST00000264107.7_Missense_Mutation_p.R902Q|ITGA6_ENST00000264106.6_Missense_Mutation_p.R941Q P23229 ITA6_HUMAN integrin, alpha 6 941 blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter integrin complex protein binding|receptor activity p.R902L(4) NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(117;0.0979) AGAAAGAAACGGGAAATTACT 0.299000 18 167 0 0 0.033300 0 0 CUZD1 50624 broad.mit.edu 37 10 124596554 124596554 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:124596554C>T ENST00000368904.1 - 7 1559 c.610G>A c.(610-612)Gac>Aac p.D204N CUZD1_ENST00000392790.1_Missense_Mutation_p.D204N|CUZD1_ENST00000545804.1_Missense_Mutation_p.D204N Q86UP6 CUZD1_HUMAN CUB and zona pellucida-like domains 1 204 CUB 2. cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation integral to membrane|transport vesicle membrane|zymogen granule membrane NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1) 39 all_neural(114;0.169)|Glioma(114;0.222) Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141) CACTGTTTGTCTATTTCTAGG 0.428000 10 20 0 0 0.006214 0 0 CRABP2 1382 broad.mit.edu 37 1 156670736 156670736 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:156670736C>T ENST00000368222.3 - 2 333 c.179G>A c.(178-180)cGc>cAc p.R60H CRABP2_ENST00000368221.1_Missense_Mutation_p.R60H NM_001199723.1|NM_001878.3 NP_001186652.1|NP_001869.1 P29373 RABP2_HUMAN cellular retinoic acid binding protein 2 60 epidermis development|regulation of transcription, DNA-dependent|signal transduction cytoplasm|nucleus retinal binding|retinol binding|transporter activity p.R60H(2) endometrium(2)|lung(3)|upper_aerodigestive_tract(1) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Alitretinoin(DB00523) CTCTGTGGTGCGCACGGTGGT 0.552000 4 96 0 0 0.009096 0 0 OR1J2 26740 broad.mit.edu 37 9 125273592 125273592 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:125273592C>T ENST00000335302.5 + 1 512 c.512C>T c.(511-513)gCg>gTg p.A171V NM_054107.1 NP_473448.1 Q8NGS2 OR1J2_HUMAN olfactory receptor, family 1, subfamily J, member 2 171 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1) 26 TTCTGTGCTGCGAACACCATC 0.532000 18 136 0 0 0.033300 0 0 OR51B2 79345 broad.mit.edu 37 11 5344774 5344774 + Missense_Mutation SNP T T C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:5344774T>C ENST00000328813.2 - 1 808 c.754A>G c.(754-756)Aca>Gca p.T252A HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_033180.4 NP_149420.4 Q9Y5P1 O51B2_HUMAN olfactory receptor, family 51, subfamily B, member 2 252 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCATCACTGTAACATAGAAG 0.388000 3 42 0 0 0.004672 0 0 EP300 2033 broad.mit.edu 37 22 41574519 41574519 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr22:41574519G>A ENST00000263253.7 + 31 8023 c.6804G>A c.(6802-6804)caG>caA p.Q2268Q RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2268 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 NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TTCAGCAACAGATGGGGTCCC 0.577000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 4 92 0 0 0.009096 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33581457 33581457 + Splice_Site SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:33581457C>T ENST00000321505.4 + 6 3307 c.3127_splice c.e6+1 p.P1043_splice KIAA1549L_ENST00000389726.3_Splice_Site_p.P1049_splice|KIAA1549L_ENST00000265654.5_Splice_Site_p.P1049_splice KIAA1549-like CATTGCTGAACGTGAGTATGG 0.547000 9 197 0 0 0.013537 0 0 GALT 2592 broad.mit.edu 37 9 34647693 34647693 + Missense_Mutation SNP G G C rs111033675 TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:34647693G>C ENST00000378842.3 + 4 410 c.368G>C c.(367-369)cGa>cCa p.R123P GALT_ENST00000556278.1_Intron|GALT_ENST00000450095.2_Intron NM_000155.3 NP_000146.2 P07902 GALT_HUMAN galactose-1-phosphate uridylyltransferase 123 R -> G (in GALCT).|R -> Q (in GALCT). galactose catabolic process cytosol UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1) 16 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) AAGTCTGCTCGAGGAGTCTGG 0.532000 Galactosemia 5 48 0 0 0.014758 0 0 FAM9A 171482 broad.mit.edu 37 X 8759387 8759387 + Missense_Mutation SNP T T G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:8759387T>G ENST00000543214.1 - 9 1099 c.964A>C c.(964-966)Att>Ctt p.I322L FAM9A_ENST00000381003.3_Missense_Mutation_p.I322L NM_001171186.1 NP_001164657.1 Q8IZU1 FAM9A_HUMAN family with sequence similarity 9, member A 322 nucleolus endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1) 18 Hepatocellular(5;0.219) CTGGAAGAAATGATGCAATAA 0.348000 10 22 0 0 0.008291 0 0 PDLIM5 10611 broad.mit.edu 37 4 95497118 95497118 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:95497118G>A ENST00000317968.4 + 5 779 c.643G>A c.(643-645)Gag>Aag p.E215K PDLIM5_ENST00000514743.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000318007.5_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.E106K|PDLIM5_ENST00000437932.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000450793.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000538141.1_Intron|PDLIM5_ENST00000508216.1_Missense_Mutation_p.E106K|PDLIM5_ENST00000542407.1_Missense_Mutation_p.E93K NM_001256428.1|NM_006457.4 NP_001243357.1|NP_006448.4 Q96HC4 PDLI5_HUMAN PDZ and LIM domain 5 215 regulation of dendritic spine morphogenesis|regulation of synaptogenesis actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome actin binding|actinin binding|protein kinase C binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 22 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.84e-09) CGTGTGTTCCGAGACTTCTCA 0.512000 11 60 0 0 0.008291 0 0 CD180 4064 broad.mit.edu 37 5 66479817 66479817 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr5:66479817C>T ENST00000256447.4 - 3 1011 c.854G>A c.(853-855)cGc>cAc p.R285H NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 285 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) GTCAGAGAAGCGGTGTTCCTG 0.473000 12 70 0 0 0.010729 0 0 KIF5B 3799 broad.mit.edu 37 10 32329359 32329359 + Missense_Mutation SNP T T A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:32329359T>A ENST00000302418.4 - 3 698 c.241A>T c.(241-243)Ata>Tta p.I81L NM_004521.2 NP_004512.1 P33176 KINH_HUMAN kinesin family member 5B 81 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(8)|KIF5B/RET(79) NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1) 35 Prostate(175;0.0137) TATGCAAATATTGTTCCATTA 0.333000 T """RET, ALK""" NSCLC 4 34 0 0 0.009096 0 0 STMN4 81551 broad.mit.edu 37 8 27099205 27099205 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr8:27099205C>G ENST00000350889.4 - 4 292 c.179G>C c.(178-180)aGa>aCa p.R60T STMN4_ENST00000265770.7_Intron|STMN4_ENST00000522908.1_Missense_Mutation_p.R60T|STMN4_ENST00000519997.1_Intron|STMN4_ENST00000523048.1_Missense_Mutation_p.R60T|STMN4_ENST00000519614.1_Intron NM_030795.2 NP_110422.2 Q9H169 STMN4_HUMAN stathmin-like 4 36 intracellular signal transduction endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1) 11 Ovarian(32;0.00167) UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142) CTGAGCTCTTCTTTCTCTCCA 0.612000 3 101 0 0 0.004672 0 0 NOTCH1 4851 broad.mit.edu 37 9 139395018 139395018 + Nonsense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr9:139395018G>A ENST00000277541.6 - 31 5995 c.5920C>T c.(5920-5922)Caa>Taa p.Q1974* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1974 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AAGACACCTTGTGCGTCGGCA 0.677000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 21 105 0 0 0.055883 0 0 B3GAT3 26229 broad.mit.edu 37 11 62389338 62389338 + Splice_Site SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:62389338C>T ENST00000531383.1 - 1 288 c.82_splice c.e1+1 p.G28_splice B3GAT3_ENST00000534026.1_Splice_Site_p.G28_splice|B3GAT3_ENST00000265471.5_Splice_Site_p.G28_splice O94766 B3GA3_HUMAN beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) 28 glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|manganese ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1) 12 ccccgcTCACCGAGCTGTACC 0.716000 3 37 0 0 0.004672 0 0 LPO 4025 broad.mit.edu 37 17 56320355 56320355 + Silent SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:56320355C>G ENST00000262290.4 + 2 331 c.15C>G c.(13-15)ctC>ctG p.L5L LPO_ENST00000421678.2_Silent_p.L5L|LPO_ENST00000582328.1_Silent_p.L5L|LPO_ENST00000543544.1_5'UTR NM_006151.2 NP_006142.1 P22079 PERL_HUMAN lactoperoxidase 5 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 30 GGGTCCTTCTCCATCTCCCAG 0.537000 11 195 0 0 0.013537 0 0 MGAT3 4248 broad.mit.edu 37 22 39884499 39884499 + Missense_Mutation SNP C C G TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr22:39884499C>G ENST00000341184.6 + 2 1362 c.1147C>G c.(1147-1149)Cgc>Ggc p.R383G NM_001098270.1|NM_002409.4 NP_001091740.1|NP_002400.3 Q09327 MGAT3_HUMAN mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase 383 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) CCGCCTGCGCCGCCGCCAGTA 0.657000 10 81 0 0 0.020292 0 0 OPA3 80207 broad.mit.edu 37 19 46057095 46057095 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:46057095C>T ENST00000263275.4 - 2 271 c.217G>A c.(217-219)Gag>Aag p.E73K OPA3_ENST00000544371.1_Missense_Mutation_p.E20K|OPA3_ENST00000323060.3_Intron NM_025136.3 NP_079412.1 Q9H6K4 OPA3_HUMAN optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) 73 response to stimulus|visual perception mitochondrion cervix(1)|large_intestine(1)|lung(2) 4 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242) GCCGCCTCCTCGTTCAGCGGC 0.657000 5 30 0 0 0.014758 0 0 SUPT16H 11198 broad.mit.edu 37 14 21826091 21826091 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr14:21826091C>T ENST00000216297.2 - 21 2823 c.2485G>A c.(2485-2487)Gaa>Aaa p.E829K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 829 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCACCCATTCCGTAGCATTT 0.368000 4 37 0 0 0.009096 0 0 EXTL3 2137 broad.mit.edu 37 8 28573933 28573933 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr8:28573933G>C ENST00000220562.4 + 3 1259 c.357G>C c.(355-357)aaG>aaC p.K119N EXTL3_ENST00000523149.1_Intron|EXTL3_ENST00000519886.1_Intron NM_001440.2 NP_001431.1 O43909 EXTL3_HUMAN exostosin-like glycosyltransferase 3 119 integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1) 36 Ovarian(32;0.069) KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228) CCTGTAAGAAGAGCATTGAGA 0.562000 8 24 0 0 0.038147 0 0 CUBN 8029 broad.mit.edu 37 10 16994286 16994286 + Missense_Mutation SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr10:16994286G>A ENST00000377833.4 - 33 5023 c.4958C>T c.(4957-4959)gCg>gTg p.A1653V NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 1653 CUB 11. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGGAGGTTGCGCTTGAATGAT 0.458000 10 91 0 0 0.008291 0 0 DDC 1644 broad.mit.edu 37 7 50534944 50534944 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr7:50534944C>T ENST00000444124.2 - 13 1410 c.1210G>A c.(1210-1212)Gtc>Atc p.V404I DDC_ENST00000426377.1_Missense_Mutation_p.V326I|DDC_ENST00000431062.1_Missense_Mutation_p.V311I|DDC_ENST00000357936.5_Missense_Mutation_p.V404I NM_001082971.1 NP_001076440.1 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid decarboxylase) 404 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1) 40 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) CCCAGAATGACTTCCACACAG 0.448000 20 128 0 0 0.055883 0 0 SLC6A8 6535 broad.mit.edu 37 X 152960239 152960239 + Silent SNP G G A rs149677083 byFrequency TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chrX:152960239G>A ENST00000253122.5 + 12 2138 c.1662G>A c.(1660-1662)ccG>ccA p.P554P SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Silent_p.P439P NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 554 P -> L (in XL-CDS). creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) ACGTGTACCCGTGGTGGGGTG 0.622000 8 32 0 0 0.038147 0 0 CEP135 9662 broad.mit.edu 37 4 56830508 56830508 + Silent SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:56830508C>A ENST00000257287.4 + 7 892 c.768C>A c.(766-768)gtC>gtA p.V256V NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 256 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) CCCCTGATGTCCTTTCTCTGG 0.353000 5 38 1.23904e-05 1.32608e-05 0.014758 1 0 NANOS3 342977 broad.mit.edu 37 19 13991286 13991286 + Missense_Mutation SNP C C T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:13991286C>T ENST00000397555.2 + 3 491 c.491C>T c.(490-492)tCg>tTg p.S164L NANOS3_ENST00000591727.1_5'UTR|NANOS3_ENST00000591161.1_5'UTR|NANOS3_ENST00000339133.5_Missense_Mutation_p.S183L NM_001098622.2 NP_001092092.1 P60323 NANO3_HUMAN nanos homolog 3 (Drosophila) 164 anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis cytoplasmic mRNA processing body|nucleus|stress granule RNA binding|zinc ion binding p.S183L(1) breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(19;2e-21) TCTGAGCCTTCGCCCTCCTGC 0.612000 OREG0025300 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 54 0 0 0.021553 0 0 LRIT3 345193 broad.mit.edu 37 4 110791477 110791477 + Silent SNP G G T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr4:110791477G>T ENST00000327908.3 + 4 1787 c.1023G>T c.(1021-1023)ggG>ggT p.G341G LRIT3_ENST00000594814.1_Silent_p.G524G|LRIT3_ENST00000379920.3_Silent_p.G479G|LRIT3_ENST00000409621.2_Silent_p.G341G Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 479 Ser-rich. integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) AGTATGGTGGGAAGGACCTGC 0.483000 16 114 1.99824e-07 2.15643e-07 0.033300 1 0 ZNF225 7768 broad.mit.edu 37 19 44635574 44635574 + Missense_Mutation SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr19:44635574C>A ENST00000262894.6 + 5 1087 c.807C>A c.(805-807)ttC>ttA p.F269L ZNF225_ENST00000590612.1_Missense_Mutation_p.F269L|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1) 16 Prostate(69;0.0352)|all_neural(266;0.202) GGAAGGCCTTCATTCATGATT 0.408000 10 88 0.00621372 0.00648932 0.006214 1 0 IQCH 64799 broad.mit.edu 37 15 67629376 67629376 + Missense_Mutation SNP C C A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr15:67629376C>A ENST00000335894.4 + 5 517 c.451C>A c.(451-453)Cat>Aat p.H151N IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 151 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) GCCATCTTCTCATTGCACAGA 0.373000 12 99 0.00136819 0.0014523 0.013537 1 0 SNRK 54861 broad.mit.edu 37 3 43381993 43381993 + Splice_Site SNP T T C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr3:43381993T>C ENST00000296088.7 + 5 1248 c.e5+2 SNRK_ENST00000454177.1_Splice_Site|SNRK_ENST00000429705.2_Splice_Site|SNRK_ENST00000437827.1_Splice_Site NM_017719.4 NP_060189.3 Q9NRH2 SNRK_HUMAN SNF related kinase myeloid cell differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792) CATTGTAGAGTACGTCAATGC 0.488000 5 38 0 0 0.014758 0 0 TNNI2 7136 broad.mit.edu 37 11 1862066 1862066 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr11:1862066G>A ENST00000381906.1 + 6 273 c.204G>A c.(202-204)ctG>ctA p.L68L TNNI2_ENST00000381911.1_Silent_p.L68L|TNNI2_ENST00000252898.7_Silent_p.L68L|TNNI2_ENST00000381905.3_Silent_p.L68L NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) 68 muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCAAACAGCTGCACGCCAAGA 0.672000 4 28 0 0 0.009096 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79092834 79092834 + Silent SNP G G A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr15:79092834G>A ENST00000388820.4 - 2 366 c.156C>T c.(154-156)gaC>gaT p.D52D ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 52 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGCCCCCCGCGTCGACTCGAA 0.677000 3 20 0 0 0.004672 0 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812939 31812939 + Silent SNP A A T TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr21:31812939A>T ENST00000334067.3 + 1 343 c.294A>T c.(292-294)ggA>ggT p.G98G NM_181623.1 NP_853654.1 Q3LI76 KR151_HUMAN keratin associated protein 15-1 98 intermediate filament kidney(1)|large_intestine(3)|lung(6)|skin(1) 11 TTGGATGTGGAAACACTGGCC 0.493000 12 144 0 0 0.013537 0 0 TLK2 11011 broad.mit.edu 37 17 60598197 60598197 + Missense_Mutation SNP G G C TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr17:60598197G>C ENST00000326270.9 + 3 413 c.145G>C c.(145-147)Gaa>Caa p.E49Q TLK2_ENST00000582809.1_5'UTR|TLK2_ENST00000542523.1_Missense_Mutation_p.E49Q|TLK2_ENST00000343388.7_Missense_Mutation_p.E49Q|TLK2_ENST00000346027.5_Missense_Mutation_p.E49Q Q86UE8 TLK2_HUMAN tousled-like kinase 2 49 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 GAGTGATAAAGAAGTAGAGGT 0.413000 6 79 0 0 0.021553 0 0 LOC101928979 101928979 broad.mit.edu 37 1 145378949 145378950 + RNA INS - - G rs138005187 by1000genomes TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr1:145378949_145378950insG ENST00000419817.1 - 0 307 ATGAAACGCGCCATTAGTACTG 0.460 3 3 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116030326 116030327 + RNA INS - - T rs113877692 TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr12:116030326_116030327insT ENST00000551940.1 - 0 343 cctccattttcTTTTTTTTTTT 0.475 2 4 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93545433 93545434 + Frame_Shift_Ins INS - - A TCGA-CR-7394-01A-11D-2012-08 TCGA-CR-7394-10A-01D-2013-08 Untested Somatic Phase_I WXS none Illumina GAIIx 1fe9a612-4c9a-432d-b175-e1d8bdbc7c56 0ffafc82-f74d-4ed7-8a93-cf6cb4b4c6ca g.chr15:93545433_93545434insA ENST00000394196.4 + 33 5232_5233 c.4164_4165insA c.(4162-4167)ataaaafs p.IK1388fs CHD2_ENST00000557381.1_Frame_Shift_Ins_p.IK1388fs NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1388 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAGTCCAATgaaaaaaaaaca 0.337 7 127 --- --- --- ---