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 RIPK4 54101 broad.mit.edu 37 21 43162129 43162129 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr21:43162129C>T ENST00000352483.2 - 9 1432 c.1368G>A c.(1366-1368)aaG>aaA p.K456K RIPK4_ENST00000544709.1_Silent_p.K345K|RIPK4_ENST00000542057.1_Silent_p.K345K|RIPK4_ENST00000332512.3_Silent_p.K408K Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 408 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CCACAAGCTTCTTCTTCTGGA 0.622000 67 104 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94928273 94928273 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:94928273G>C ENST00000222381.3 - 9 1282 c.1051C>G c.(1051-1053)Ctt>Gtt p.L351V PON1_ENST00000542556.1_Missense_Mutation_p.L351V NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 351 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) TCACAGTAAAGAGCTTTGTGA 0.468000 31 63 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144804378 144804378 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:144804378C>A ENST00000338033.4 + 14 1711 c.1592C>A c.(1591-1593)tCg>tAg p.S531* NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 531 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) GTCTGCCACTCGGCACTGGGC 0.677000 7 60 0.000157383 0.000160135 1 1 0 RIPK4 54101 broad.mit.edu 37 21 43161705 43161705 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr21:43161705C>G ENST00000352483.2 - 9 1856 c.1792G>C c.(1792-1794)Gag>Cag p.E598Q RIPK4_ENST00000544709.1_Missense_Mutation_p.E487Q|RIPK4_ENST00000542057.1_Missense_Mutation_p.E487Q|RIPK4_ENST00000332512.3_Missense_Mutation_p.E550Q Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 550 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 ACGATATTCTCCTGCCCGTGC 0.657000 15 21 0 0 1 0 0 DNAL1 83544 broad.mit.edu 37 14 74162637 74162637 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:74162637G>C ENST00000553645.2 + 8 606 c.565G>C c.(565-567)Gac>Cac p.D189H DNAL1_ENST00000540526.1_Missense_Mutation_p.D150H|DNAL1_ENST00000554339.1_Missense_Mutation_p.D102H|DNAL1_ENST00000311089.3_Missense_Mutation_p.D76H|DNAL1_ENST00000554871.1_Missense_Mutation_p.D150H NM_031427.3 NP_113615.2 Q4LDG9 DNAL1_HUMAN dynein, axonemal, light chain 1 LRRCT. kidney(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) TGAGGAAGAAGACAACTAATG 0.264000 4 6 0 0 1 0 0 SLC25A13 10165 broad.mit.edu 37 7 95906580 95906580 + Missense_Mutation SNP A A T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:95906580A>T ENST00000416240.2 - 3 330 c.140T>A c.(139-141)aTt>aAt p.I47N SLC25A13_ENST00000542654.1_5'UTR|SLC25A13_ENST00000265631.5_Missense_Mutation_p.I47N NM_001160210.1|NM_014251.2 NP_001153682.1|NP_055066.1 Q9UJS0 CMC2_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 13 47 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TTCTCCAAAAATGTTCAAGTA 0.328000 11 36 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51184034 51184034 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:51184034G>A ENST00000266037.9 + 10 824 c.801G>A c.(799-801)aaG>aaA p.K267K NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 267 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) ACCCAGAGAAGATAGAACGAA 0.428000 3 4 0 0 1 0 0 CDK8 1024 broad.mit.edu 37 13 26970427 26970427 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:26970427G>C ENST00000381527.3 + 8 1299 c.796G>C c.(796-798)Gat>Cat p.D266H CDK8_ENST00000536792.1_3'UTR NM_001260.1 NP_001251.1 P49336 CDK8_HUMAN cyclin-dependent kinase 8 266 Protein kinase. regulation of transcription, DNA-dependent|transcription, DNA-dependent mediator complex ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 25 Colorectal(5;0.000442) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188) CACAGATAAAGATTGGGAAGA 0.284000 11 18 0 0 1 0 0 MFRP 83552 broad.mit.edu 37 11 119215584 119215584 + Splice_Site SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:119215584C>T ENST00000555262.1 - 6 931 c.772G>A c.(772-774)Ggg>Agg p.G258R MFRP_ENST00000530681.1_Splice_Site_p.G258R|MFRP_ENST00000360167.4_Splice_Site_p.G258R|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000449574.2_Splice_Site_p.G258R NM_001278431.1 NP_001265360.1 membrane frizzled-related protein autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1) 18 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) ACACACTCACCGCGCCCAGGG 0.602000 6 7 0 0 1 0 0 C4BPA 722 broad.mit.edu 37 1 207297548 207297548 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:207297548C>T ENST00000367070.3 + 6 737 c.543C>T c.(541-543)atC>atT p.I181I NM_000715.3 NP_000706.1 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 181 Sushi 3. complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 CTCCAGACATCAGGAATGGAA 0.458000 22 136 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647495 20647495 + Missense_Mutation SNP A A G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr2:20647495A>G ENST00000272233.4 + 1 661 c.269A>G c.(268-270)gAc>gGc p.D90G NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 90 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) GACAGCCCGGACTCGCTGGAG 0.627000 101 56 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11187752 11187752 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:11187752C>T ENST00000361445.4 - 44 6221 c.6145G>A c.(6145-6147)Gag>Aag p.E2049K MTOR_ENST00000376838.1_Missense_Mutation_p.E254K NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2049 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 TCCAGCACCTCAAACATGCCT 0.507000 53 172 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90368421 90368421 + Splice_Site SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:90368421G>T ENST00000405460.2 + 86 18406 c.18310G>T c.(18310-18312)Gaa>Taa p.E6104* GPR98_ENST00000425867.2_Splice_Site_p.E1765* NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6104 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AAATGCTGCAGGTTTGAAAGG 0.433000 47 30 1.05386e-31 1.1443e-31 1 1 0 APOL6 80830 broad.mit.edu 37 22 36054951 36054951 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:36054951C>T ENST00000409652.4 + 3 616 c.340C>T c.(340-342)Caa>Taa p.Q114* NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 CACCGCTGGTCAAGGTTTGGC 0.577000 6 40 0 0 1 0 0 ZCCHC7 84186 broad.mit.edu 37 9 37126451 37126451 + Missense_Mutation SNP A A G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:37126451A>G ENST00000336755.5 + 2 228 c.122A>G c.(121-123)tAt>tGt p.Y41C ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.Y40C|ZCCHC7_ENST00000534928.1_Intron NM_032226.2 NP_115602.2 Q8N3Z6 ZCHC7_HUMAN zinc finger, CCHC domain containing 7 41 nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 30 GBM - Glioblastoma multiforme(29;0.0137) CAAATTCATTATGCCCAAGAT 0.388000 12 110 0 0 1 0 0 SLC41A3 54946 broad.mit.edu 37 3 125727640 125727640 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:125727640C>G ENST00000383598.2 - 9 1396 c.1111G>C c.(1111-1113)Gag>Cag p.E371Q SLC41A3_ENST00000508835.1_Missense_Mutation_p.E280Q|SLC41A3_ENST00000346785.5_Missense_Mutation_p.E361Q|SLC41A3_ENST00000315891.6_Missense_Mutation_p.E397Q|SLC41A3_ENST00000360370.4_Missense_Mutation_p.E397Q NM_001008487.1 NP_001008487.1 Q96GZ6 S41A3_HUMAN solute carrier family 41, member 3 397 integral to membrane|plasma membrane cation transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 GBM - Glioblastoma multiforme(114;0.167) GACTGACCCTCCACCAGGTAG 0.517000 12 70 0 0 1 0 0 PHLDA3 23612 broad.mit.edu 37 1 201437606 201437606 + Silent SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:201437606G>T ENST00000367311.3 - 1 706 c.309C>A c.(307-309)gtC>gtA p.V103V PHLDA3_ENST00000367309.1_Silent_p.V103V|PHLDA3_ENST00000485436.1_5'UTR NM_012396.3 NP_036528.1 Q9Y5J5 PHLA3_HUMAN pleckstrin homology-like domain, family A, member 3 103 PH. anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade cytoplasm|intracellular membrane-bounded organelle|plasma membrane identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding lung(1)|prostate(1) 2 TCTTGAACTTGACCAGGCCTA 0.637000 39 80 8.69298e-16 9.30021e-16 1 1 0 AAR2 25980 broad.mit.edu 37 20 34832712 34832712 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:34832712C>T ENST00000373932.3 + 3 1197 c.851C>T c.(850-852)tCa>tTa p.S284L AAR2_ENST00000397286.3_Missense_Mutation_p.S284L|AAR2_ENST00000320849.4_Missense_Mutation_p.S284L NM_015511.3 NP_056326.2 AAR2 splicing factor homolog (S. cerevisiae) CTGTGCCGGTCAGAAGCAGCC 0.522000 9 53 0 0 1 0 0 ARL2-SNX15 100528018 broad.mit.edu 37 11 64781732 64781732 + Missense_Mutation SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:64781732G>T ENST00000301886.3 + 1 79 c.53G>T c.(52-54)cGa>cTa p.R18L ARL2_ENST00000246747.4_Missense_Mutation_p.R18L|ARL2_ENST00000529384.1_Missense_Mutation_p.R18L|ARL2_ENST00000533729.1_Missense_Mutation_p.R18L CGGGAGCTGCGACTGCTCATG 0.701000 5 2 0.184627 0.184627 1 1 0 ACVR1B 91 broad.mit.edu 37 12 52380627 52380627 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:52380627G>A ENST00000257963.4 + 7 1239 c.1162G>A c.(1162-1164)Gaa>Aaa p.E388K ACVR1B_ENST00000415850.2_Missense_Mutation_p.E388K|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000426655.2_Missense_Mutation_p.E388K|ACVR1B_ENST00000541224.1_Missense_Mutation_p.E429K|ACVR1B_ENST00000542485.1_Missense_Mutation_p.E336K NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 388 Protein kinase. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding p.D387fs*3(2) breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) AGTACTTGATGAAACCATTAA 0.393000 29 100 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35710623 35710623 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:35710623C>T ENST00000314888.9 - 33 4614 c.4261G>A c.(4261-4263)Gag>Aag p.E1421K TLN1_ENST00000540444.1_Missense_Mutation_p.E1421K NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1421 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TCTCCAAACTCTGGCAGGTTT 0.542000 3 29 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65756239 65756239 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:65756239G>C ENST00000341861.5 - 15 3459 c.1879C>G c.(1879-1881)Ctt>Gtt p.L627V DPP8_ENST00000321118.7_Missense_Mutation_p.L627V|DPP8_ENST00000339244.5_Missense_Mutation_p.L454V|DPP8_ENST00000559233.1_Missense_Mutation_p.L627V|DPP8_ENST00000321147.6_Missense_Mutation_p.L627V|DPP8_ENST00000358939.4_Missense_Mutation_p.L611V|DPP8_ENST00000300141.6_Missense_Mutation_p.L611V NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 627 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TAGTCAGGAAGAGGACCTGTG 0.403000 14 39 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44929017 44929017 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chrX:44929017C>G ENST00000377967.4 + 17 2158 c.2117C>G c.(2116-2118)tCa>tGa p.S706* KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S627*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S661*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S713* NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 706 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.T705fs*7(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 ACTGCTACCTCAGGTGGACAA 0.507000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 6 8 0 0 1 0 0 PADI2 11240 broad.mit.edu 37 1 17431417 17431417 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:17431417G>A ENST00000375486.4 - 2 295 c.232C>T c.(232-234)Cgg>Tgg p.R78W PADI2_ENST00000375481.1_Missense_Mutation_p.R78W|PADI2_ENST00000444885.2_Missense_Mutation_p.R78W NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase, type II 78 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201) L-Citrulline(DB00155) ATGGTGACCCGCAGGGTGGTG 0.672000 12 28 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 118949582 118949582 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:118949582C>T ENST00000328252.3 + 2 934 c.565C>T c.(565-567)Cgc>Tgc p.R189C NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 189 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CAATGCCCACCGCAGCTACCT 0.557000 23 17 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8139986 8139986 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:8139986G>A ENST00000600128.1 - 61 8085 c.7671C>T c.(7669-7671)ttC>ttT p.F2557F FBN3_ENST00000270509.2_Silent_p.F2557F|FBN3_ENST00000601739.1_Silent_p.F2557F Q75N90 FBN3_HUMAN fibrillin 3 2557 EGF-like 42; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGTGCTGGGTGAAACCCTGGG 0.597000 17 38 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62860618 62860618 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:62860618G>A ENST00000383710.4 - 1 436 c.87C>T c.(85-87)tcC>tcT p.S29S CADPS_ENST00000283269.9_Silent_p.S29S|CADPS_ENST00000490353.2_Silent_p.S29S|CADPS_ENST00000357948.3_Silent_p.S29S NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 29 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GGCGCGCGCCGGACGGGGCCG 0.751000 5 6 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183521065 183521065 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:183521065G>A ENST00000367537.3 + 24 3707 c.3512G>A c.(3511-3513)tGa>tAa p.*1171* SMG7_ENST00000347615.2_Silent_p.*1138*|SMG7_ENST00000508461.1_Silent_p.*1146*|SMG7_ENST00000515829.2_Silent_p.*1092*|SMG7_ENST00000456731.2_Silent_p.*1050*|SMG7_ENST00000507469.1_Intron Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 0 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CCTCCACACTGAGGCCAAAGT 0.552000 16 19 0 0 1 0 0 LHX2 9355 broad.mit.edu 37 9 126794805 126794805 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:126794805C>G ENST00000373615.4 + 5 1779 c.1040C>G c.(1039-1041)tCg>tGg p.S347W NM_004789.3 NP_004780.3 P50458 LHX2_HUMAN LIM homeobox 2 347 nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1) 10 GGGACGCCATCGGGCCCGGCC 0.657000 21 13 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964210 94964210 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:94964210C>T ENST00000341228.2 - 3 1320 c.525G>A c.(523-525)aaG>aaA p.K175K SERPINA12_ENST00000556881.1_Silent_p.K175K NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 175 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) CATTGATCTGCTTCTGAGCCA 0.408000 46 78 0 0 1 0 0 TNIK 23043 broad.mit.edu 37 3 170843742 170843742 + Nonsense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:170843742G>A ENST00000436636.2 - 17 2316 c.1972C>T c.(1972-1974)Cga>Tga p.R658* TNIK_ENST00000538048.1_Nonsense_Mutation_p.R603*|TNIK_ENST00000470834.1_Nonsense_Mutation_p.R629*|TNIK_ENST00000369326.5_Nonsense_Mutation_p.R629*|TNIK_ENST00000341852.6_Nonsense_Mutation_p.R574*|TNIK_ENST00000357327.5_Nonsense_Mutation_p.R629*|TNIK_ENST00000488470.1_Nonsense_Mutation_p.R603*|TNIK_ENST00000460047.1_Nonsense_Mutation_p.R603*|TNIK_ENST00000284483.8_Nonsense_Mutation_p.R658*|TNIK_ENST00000475336.1_Nonsense_Mutation_p.R574* NM_015028.2 NP_055843.1 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase 658 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2) 62 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CAAGAGCTTCGGTCAAACTTT 0.473000 9 35 0 0 1 0 0 TM9SF4 9777 broad.mit.edu 37 20 30730854 30730854 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:30730854C>T ENST00000217315.5 + 6 887 c.547C>T c.(547-549)Cac>Tac p.H183Y TM9SF4_ENST00000398022.2_Missense_Mutation_p.H200Y Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 200 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) GGACCAGGAGCACACGTACCG 0.577000 15 53 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57109287 57109287 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:57109287G>A ENST00000376149.3 - 18 2361 c.1552C>T c.(1552-1554)Cgc>Tgc p.R518C TRIM37_ENST00000262294.7_Missense_Mutation_p.R640C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R606C|TRIM37_ENST00000393066.3_Missense_Mutation_p.R640C O94972 TRI37_HUMAN tripartite motif containing 37 640 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) GCAGGTGGGCGAGGCTGTAAG 0.373000 Mulibrey Nanism 32 74 0 0 1 0 0 BLMH 642 broad.mit.edu 37 17 28576040 28576040 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:28576040C>G ENST00000261714.6 - 12 1537 c.1363G>C c.(1363-1365)Gag>Cag p.E455Q RP11-354P11.2_ENST00000577420.1_RNA|BLMH_ENST00000394819.3_Missense_Mutation_p.E368Q NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 455 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 CAGTATCACTCAGCCAAAGCT 0.542000 6 32 0 0 1 0 0 SLC5A11 115584 broad.mit.edu 37 16 24921659 24921659 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:24921659C>A ENST00000347898.3 + 15 2305 c.1683C>A c.(1681-1683)gaC>gaA p.D561E SLC5A11_ENST00000449109.2_Missense_Mutation_p.D405E|SLC5A11_ENST00000568579.1_Missense_Mutation_p.D491E|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D497E|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D491E|SLC5A11_ENST00000567758.1_Missense_Mutation_p.D526E|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D497E|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D405E|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D526E NM_052944.3 NP_443176.2 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/inositol cotransporter), member 11 561 apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1) 49 GBM - Glioblastoma multiforme(48;0.0365) CTCGTCACGACCCCGTGGTCC 0.577000 18 60 8.10497e-08 8.51461e-08 1 1 0 PYGM 5837 broad.mit.edu 37 11 64514234 64514234 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:64514234G>A ENST00000164139.3 - 20 2824 c.2426C>T c.(2425-2427)tCt>tTt p.S809F PYGM_ENST00000377432.3_Missense_Mutation_p.S721F NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 809 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GAACTTGCCAGAGGTGGCTAT 0.612000 34 17 0 0 1 0 0 SH3BP2 6452 broad.mit.edu 37 4 2829042 2829042 + Nonsense_Mutation SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr4:2829042G>T ENST00000356331.5 + 6 775 c.514G>T c.(514-516)Gaa>Taa p.E172* SH3BP2_ENST00000452765.2_Nonsense_Mutation_p.E172*|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000503393.2_Nonsense_Mutation_p.E229*|SH3BP2_ENST00000442312.2_Nonsense_Mutation_p.E200*|SH3BP2_ENST00000511747.1_Nonsense_Mutation_p.E172*|SH3BP2_ENST00000435136.2_Nonsense_Mutation_p.E172* NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 172 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CACGGACAATGAAGGTGAGGT 0.617000 Cherubism 10 42 2.17888e-05 2.25642e-05 1 1 0 PRDM13 59336 broad.mit.edu 37 6 100062341 100062341 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr6:100062341C>T ENST00000369215.4 + 4 2135 c.1830C>T c.(1828-1830)ttC>ttT p.F610F NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 610 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F610L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) TGCGGCCCTTCGGCGACCCCA 0.617000 20 12 0 0 1 0 0 TUBB3 10381 broad.mit.edu 37 16 90002146 90002146 + Silent SNP G G A rs142238093 byFrequency TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:90002146G>A ENST00000304984.5 + 3 3366 c.1071G>A c.(1069-1071)acG>acA p.T357T TUBB3_ENST00000556922.1_Silent_p.T776T|TUBB3_ENST00000315491.7_Silent_p.T429T|TUBB3_ENST00000554444.1_Silent_p.T357T|TUBB3_ENST00000555576.1_Intron Q13509 TBB3_HUMAN tubulin, beta 3 class III 429 'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0273) AGGACGCCACGGCCGAGGAAG 0.637000 34 77 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186544663 186544663 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr4:186544663G>A ENST00000431808.1 - 14 2471 c.1908C>T c.(1906-1908)taC>taT p.Y636Y SORBS2_ENST00000418609.1_Silent_p.Y540Y|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000284776.7_Silent_p.Y636Y|SORBS2_ENST00000355634.5_Silent_p.Y736Y|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 636 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) ggCTGGATCCGTAAAAGCTTT 0.537000 3 30 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874964 10874964 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr6:10874964G>C ENST00000379491.4 - 5 932 c.785C>G c.(784-786)tCa>tGa p.S262* SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 262 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TCTTGGGCTTGAGTATTTCTG 0.468000 54 34 0 0 1 0 0 ZNF782 158431 broad.mit.edu 37 9 99581910 99581910 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:99581910C>G ENST00000481138.1 - 6 1056 c.395G>C c.(394-396)aGa>aCa p.R132T ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_5'UTR NM_001001662.1 NP_001001662.1 Q6ZMW2 ZN782_HUMAN zinc finger protein 782 132 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3) 33 Acute lymphoblastic leukemia(62;0.0527) AGGCATCATTCTTGCACGAAA 0.408000 31 19 0 0 1 0 0 C1orf43 25912 broad.mit.edu 37 1 154184824 154184824 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:154184824G>C ENST00000368521.5 - 6 736 c.538C>G c.(538-540)Cag>Gag p.Q180E C1orf43_ENST00000362076.4_Missense_Mutation_p.Q128E|C1orf43_ENST00000368516.1_Missense_Mutation_p.Q146E|C1orf43_ENST00000368519.1_Missense_Mutation_p.Q162E|C1orf43_ENST00000350592.3_Missense_Mutation_p.Q146E|C1orf43_ENST00000368518.1_Missense_Mutation_p.Q180E NM_001098616.1 NP_001092086.1 Q9BWL3 CA043_HUMAN chromosome 1 open reading frame 43 180 integral to membrane coenzyme binding|oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1) 10 all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877) AGGGCCTCCTGATAGCGTAGG 0.522000 4 144 0 0 1 0 0 BLMH 642 broad.mit.edu 37 17 28576036 28576036 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:28576036C>T ENST00000261714.6 - 12 1541 c.1367G>A c.(1366-1368)tGa>tAa p.*456* RP11-354P11.2_ENST00000577420.1_RNA|BLMH_ENST00000394819.3_Silent_p.*369* NM_000386.3 NP_000377.1 Q13867 BLMH_HUMAN bleomycin hydrolase 0 proteolysis cytoplasm|nucleus aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1) 13 AGGGCAGTATCACTCAGCCAA 0.537000 6 34 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222207 140222207 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:140222207C>T ENST00000531613.1 + 1 1301 c.1301C>T c.(1300-1302)tCg>tTg p.S434L PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S434L|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCTCGCCTTCGCTGTGGGCC 0.627000 50 48 0 0 1 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13934200 13934200 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:13934200C>T ENST00000254323.2 + 10 1939 c.1750C>T c.(1750-1752)Cat>Tat p.H584Y ZSWIM4_ENST00000440752.2_Missense_Mutation_p.H418Y NM_023072.2 NP_075560.2 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 584 zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) TGGAGAACCTCATCCCAGCCC 0.597000 9 20 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95164212 95164212 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:95164212C>T ENST00000027335.3 - 13 1804 c.1680G>A c.(1678-1680)gtG>gtA p.V560V CDH17_ENST00000450165.2_Silent_p.V560V|CDH17_ENST00000441892.2_Silent_p.V346V NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 560 Cadherin 5. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTGCTTCATTCACATCTGTCA 0.438000 9 80 0 0 1 0 0 TMEM66 51669 broad.mit.edu 37 8 29923530 29923530 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:29923530G>C ENST00000256255.6 - 5 1225 c.968C>G c.(967-969)tCa>tGa p.S323* TMEM66_ENST00000545648.1_Nonsense_Mutation_p.S151*|TMEM66_ENST00000536273.1_Nonsense_Mutation_p.S151* NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 323 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) TTTCGTGTCTGAGTTTGAACA 0.458000 14 24 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32953974 32953974 + Missense_Mutation SNP C C T rs80359156 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:32953974C>T ENST00000544455.1 + 23 9268 c.9041C>T c.(9040-9042)tCa>tTa p.S3014L BRCA2_ENST00000380152.3_Missense_Mutation_p.S3014L NM_000059.3 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3014 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTGCAACTTCAAAATCTAAA 0.323000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 7 30 0 0 1 0 0 FAM21C 253725 broad.mit.edu 37 10 46250443 46250443 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:46250443G>C ENST00000336378.4 + 15 1418 c.1300G>C c.(1300-1302)Gag>Cag p.E434Q FAM21C_ENST00000537517.1_Missense_Mutation_p.E410Q|FAM21C_ENST00000374362.2_Missense_Mutation_p.E434Q|FAM21C_ENST00000540872.1_Missense_Mutation_p.E434Q|FAM21C_ENST00000359860.4_Missense_Mutation_p.E378Q NM_015262.2 NP_056077.2 A8K5W5 A8K5W5_HUMAN family with sequence similarity 21, member C 434 p.E433Q(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 ACAGAAGCCTGAGCAGCCCAC 0.552000 5 39 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207788 58207788 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:58207788G>A ENST00000377918.3 + 1 1134 c.1108G>A c.(1108-1110)Gtc>Atc p.V370I NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 370 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCCCGGCACCGTCATCGCCCT 0.701000 3 50 0 0 1 0 0 LPCAT3 10162 broad.mit.edu 37 12 7090329 7090329 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:7090329C>G ENST00000261407.4 - 6 599 c.514G>C c.(514-516)Gag>Cag p.E172Q NM_005768.5 NP_005759.4 Q6P1A2 MBOA5_HUMAN lysophosphatidylcholine acyltransferase 3 172 phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane 1-acylglycerophosphocholine O-acyltransferase activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 17 TTCTGTTGCTCAGAGGACAAG 0.502000 12 26 0 0 1 0 0 AK2 204 broad.mit.edu 37 1 33478907 33478907 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:33478907C>G ENST00000373449.2 - 6 636 c.595G>C c.(595-597)Gag>Cag p.E199Q AK2_ENST00000354858.6_Missense_Mutation_p.E199Q|RP1-117O3.2_ENST00000427524.1_RNA|AK2_ENST00000548033.1_Missense_Mutation_p.E157Q|AK2_ENST00000480134.1_3'UTR|AK2_ENST00000467905.1_Missense_Mutation_p.E199Q NM_001199199.1|NM_013411.4 NP_001186128.1|NP_037543.1 P54819 KAD2_HUMAN adenylate kinase 2 199 nucleobase, nucleoside and nucleotide interconversion mitochondrial intermembrane space adenylate kinase activity|ATP binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CTGTAGTACTCTATGAGTGGG 0.537000 19 40 0 0 1 0 0 SERINC3 10955 broad.mit.edu 37 20 43142550 43142550 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:43142550C>G ENST00000342374.4 - 2 328 c.171G>C c.(169-171)caG>caC p.Q57H SERINC3_ENST00000468234.1_5'UTR|SERINC3_ENST00000541235.1_Missense_Mutation_p.Q2H|SERINC3_ENST00000255175.1_Missense_Mutation_p.Q57H NM_006811.2 NP_006802.1 Q13530 SERC3_HUMAN serine incorporator 3 57 integral to membrane|plasma membrane protein binding endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1) 18 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) TCTCTTTTCTCTGCATGATAT 0.368000 18 111 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25488583 25488583 + RNA SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:25488583C>T ENST00000453082.2 + 0 2211 NR_003343.1 GATGGTGAGACGGGAGGAAGA 0.602000 12 18 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104156096 104156096 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:104156096C>T ENST00000388887.2 + 67 7608 c.7404C>T c.(7402-7404)atC>atT p.I2468I RP11-341G23.4_ENST00000551299.1_RNA NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 2468 angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TCTTTGCCATCATCCTGGTGA 0.488000 12 58 0 0 1 0 0 SLC25A17 10478 broad.mit.edu 37 22 41190579 41190579 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:41190579C>G ENST00000435456.2 - 3 254 c.121G>C c.(121-123)Gag>Cag p.E41Q SLC25A17_ENST00000544408.1_Missense_Mutation_p.E4Q|SLC25A17_ENST00000542412.1_Intron|SLC25A17_ENST00000491545.1_5'UTR NM_006358.2 NP_006349.1 O43808 PM34_HUMAN solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 41 fatty acid alpha-oxidation integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane adenine nucleotide transmembrane transporter activity|protein binding central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1) 8 TTTCTTTTCTCATCAACTACA 0.373000 23 50 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50901239 50901239 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:50901239C>T ENST00000013125.4 - 27 2355 c.2037G>A c.(2035-2037)gtG>gtA p.V679V NM_006575.4|NM_198794.2 NP_006566.2|NP_942089.1 Q9Y4K4 M4K5_HUMAN mitogen-activated protein kinase kinase kinase kinase 5 679 CNH. activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) GTTCAGGTATCACCAGCATTT 0.373000 4 11 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246797835 246797835 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:246797835G>A ENST00000366513.4 + 6 1033 c.764G>A c.(763-765)gGa>gAa p.G255E CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.G255E NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 255 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 TCAGAAAAGGGATTTAATGGT 0.328000 17 43 0 0 1 0 0 LNPEP 4012 broad.mit.edu 37 5 96363481 96363481 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:96363481C>T ENST00000231368.5 + 17 3601 c.2909C>T c.(2908-2910)tCa>tTa p.S970L LNPEP_ENST00000395770.3_Missense_Mutation_p.S956L NM_005575.2 NP_005566.2 Q9UIQ6 LCAP_HUMAN leucyl/cystinyl aminopeptidase 970 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) GTTGCTGGATCAACTTACCTG 0.433000 11 54 0 0 1 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332570 22332570 + RNA SNP T T C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:22332570T>C ENST00000558896.1 + 0 377 CCCATGCTCATCTGCTCCAAT 0.398000 7 188 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13058772 13058772 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:13058772C>G ENST00000586534.1 + 2 244 c.183C>G c.(181-183)atC>atG p.I61M RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000592268.1_Missense_Mutation_p.I61M|RAD23A_ENST00000316856.3_Missense_Mutation_p.I61M|RAD23A_ENST00000541222.1_5'UTR P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 61 Ubiquitin-like. interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 ATGTCCCTATCAGGGACTATC 0.547000 Nucleotide excision repair (NER) 24 29 0 0 1 0 0 HIST1H3I 8354 broad.mit.edu 37 6 27839802 27839802 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr6:27839802C>T ENST00000328488.2 - 1 297 c.292G>A c.(292-294)Gag>Aag p.E98K NM_003533.2 NP_003524.1 P68431 H31_HUMAN histone cluster 1, H3i 98 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGGTAGGCCTCGCAAGCCTCC 0.572000 59 45 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596841 39596841 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:39596841C>T ENST00000246646.3 - 1 332 c.333G>A c.(331-333)ctG>ctA p.L111L NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 111 Coil 1A.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GGCGGTCATTCAGGAACTGCA 0.582000 48 98 0 0 1 0 0 SHC1 6464 broad.mit.edu 37 1 154942951 154942951 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:154942951G>C ENST00000448116.2 - 1 272 c.52C>G c.(52-54)Ctg>Gtg p.L18V SHC1_ENST00000606391.1_Splice_Site_p.L18V|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.L18V|SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368449.4_Splice_Site NM_001130040.1 NP_001123512.1 P29353 SHC1_HUMAN SHC (Src homology 2 domain containing) transforming protein 1 18 activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth cytosol|mitochondrial matrix|Shc-EGFR complex epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1) 20 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) AGCGATGACAGAGACTCATTC 0.637000 14 27 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1849592 1849592 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:1849592G>A ENST00000378602.3 - 2 554 c.314C>T c.(313-315)tCc>tTc p.S105F TMEM52_ENST00000310991.3_Missense_Mutation_p.S120F Q8NDY8 TMM52_HUMAN transmembrane protein 52 120 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GTACTGCACGGAGCTGTAGGC 0.652000 23 26 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67576631 67576631 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:67576631C>T ENST00000310421.4 - 1 2821 c.2563G>A c.(2563-2565)Gct>Act p.A855T NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 855 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CCACCTTCAGCTTTACTTTTT 0.433000 57 60 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91486220 91486220 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:91486220G>A ENST00000394275.2 + 11 1725 c.890G>A c.(889-891)cGa>cAa p.R297Q UNC45A_ENST00000418476.2_Missense_Mutation_p.R312Q|UNC45A_ENST00000553671.2_3'UTR NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 312 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GGCCAAGGCCGAGACAATGCC 0.567000 30 65 0 0 1 0 0 PARN 5073 broad.mit.edu 37 16 14704555 14704555 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:14704555G>C ENST00000437198.2 - 7 641 c.500C>G c.(499-501)tCa>tGa p.S167* PARN_ENST00000566021.1_5'UTR|PARN_ENST00000341484.7_Nonsense_Mutation_p.S106*|PARN_ENST00000420015.2_Nonsense_Mutation_p.S121*|PARN_ENST00000539279.1_Intron NM_001134477.2|NM_002582.3 NP_001127949.1|NP_002573.1 O95453 PARN_HUMAN poly(A)-specific ribonuclease 167 female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification cytosol|nucleolus metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1) 21 AGGACATTTTGAAGTGTTAGG 0.383000 61 69 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176860650 176860650 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:176860650C>T ENST00000355472.5 + 8 879 c.711C>T c.(709-711)atC>atT p.I237I GRK6_ENST00000355958.5_Silent_p.I237I|GRK6_ENST00000528793.1_Silent_p.I237I|GRK6_ENST00000393576.3_Silent_p.I237I|GRK6_ENST00000507633.1_Silent_p.I237I NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 237 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGAAGCAGATCCTGGAGAAAG 0.572000 22 17 0 0 1 0 0 PUS3 83480 broad.mit.edu 37 11 125765527 125765527 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:125765527G>A ENST00000227474.3 - 3 633 c.536C>T c.(535-537)cCt>cTt p.P179L HYLS1_ENST00000425380.2_Intron|HYLS1_ENST00000526028.1_Intron|HYLS1_ENST00000356438.3_Intron|PUS3_ENST00000530811.1_Missense_Mutation_p.P179L NM_001271985.1|NM_031307.3 NP_001258914.1|NP_112597 Q9BZE2 PUS3_HUMAN pseudouridylate synthase 3 179 nucleus RNA binding NS(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 10 all_hematologic(175;0.177) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.043) TGGTTCTACAGGGGCCCAGGC 0.473000 47 47 0 0 1 0 0 TMEM184B 25829 broad.mit.edu 37 22 38617497 38617497 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:38617497G>A ENST00000361906.3 - 9 1411 c.1203C>T c.(1201-1203)ctC>ctT p.L401L TMEM184B_ENST00000361684.4_Silent_p.L401L|TMEM184B_ENST00000504337.1_5'UTR NM_001195072.1|NM_012264.4 NP_001182001.1|NP_036396.2 Q9Y519 T184B_HUMAN transmembrane protein 184B 401 integral to membrane endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1) 8 Melanoma(58;0.045) CATCAGAGCTGAGCAGGAGAG 0.682000 23 9 0 0 1 0 0 STAB2 55576 broad.mit.edu 37 12 104131455 104131455 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:104131455G>A ENST00000388887.2 + 53 5798 c.5594G>A c.(5593-5595)cGg>cAg p.R1865Q NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 1865 FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATTGTGCAGCGGGAGCTCTTG 0.483000 8 36 0 0 1 0 0 SEPP1 6414 broad.mit.edu 37 5 42808290 42808290 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:42808290G>C ENST00000514985.1 - 2 422 c.166C>G c.(166-168)Caa>Gaa p.Q56E SEPP1_ENST00000511224.1_Missense_Mutation_p.Q56E|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000506577.1_Missense_Mutation_p.Q56E|SEPP1_ENST00000507920.1_Missense_Mutation_p.Q56E NM_005410.2 NP_005401.3 P49908 SEPP1_HUMAN selenoprotein P, plasma, 1 56 response to oxidative stress extracellular region selenium binding kidney(10)|large_intestine(1)|lung(4) 15 CAGCTGGCTTGAAGAAGAGCA 0.453000 5 32 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113285551 113285551 + Missense_Mutation SNP G G T rs146502002 byFrequency TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:113285551G>T ENST00000389385.4 + 5 631 c.134G>T c.(133-135)aGg>aTg p.R45M RPH3A_ENST00000447659.2_Intron|RPH3A_ENST00000415485.3_Missense_Mutation_p.R45M|RPH3A_ENST00000551052.1_Missense_Mutation_p.R41M|RPH3A_ENST00000548866.1_Intron|RPH3A_ENST00000420983.2_Missense_Mutation_p.R45M|RPH3A_ENST00000543106.2_Missense_Mutation_p.R45M NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 45 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GACAGGCAGAGGAAGCAGGAA 0.532000 8 29 0.000157383 0.000160135 1 1 0 HYDIN 54768 broad.mit.edu 37 16 71054106 71054106 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:71054106C>T ENST00000393567.2 - 22 3451 c.3301G>A c.(3301-3303)Gat>Aat p.D1101N HYDIN_ENST00000448089.2_Missense_Mutation_p.D1053N NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1101 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGGGATTTATCAGTCTCACAT 0.507000 7 15 0 0 1 0 0 ACO2 50 broad.mit.edu 37 22 41916247 41916247 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:41916247G>A ENST00000396512.3 + 9 1197 c.1180G>A c.(1180-1182)Gag>Aag p.E394K ACO2_ENST00000216254.4_Missense_Mutation_p.E369K|ACO2_ENST00000466237.1_3'UTR Q99798 ACON_HUMAN aconitase 2, mitochondrial 369 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 23 CAAGGTGGCAGAGAAGGAAGG 0.577000 19 18 0 0 1 0 0 GLRA4 441509 broad.mit.edu 37 X 102978790 102978790 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chrX:102978790C>G ENST00000372617.4 - 5 991 c.571G>C c.(571-573)Gag>Cag p.E191Q NM_001024452.2 NP_001019623.2 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 191 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TTACAGCTCTCAAGCTGCATC 0.498000 8 6 0 0 1 0 0 BRAP 8315 broad.mit.edu 37 12 112097055 112097055 + Missense_Mutation SNP T T C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:112097055T>C ENST00000419234.4 - 8 1260 c.1067A>G c.(1066-1068)tAt>tGt p.Y356C BRAP_ENST00000539060.1_Missense_Mutation_p.Y177C|BRAP_ENST00000327551.6_Missense_Mutation_p.Y326C NM_006768.3 NP_006759.3 Q7Z569 BRAP_HUMAN BRCA1 associated protein 356 Y -> H (in Ref. 5; AAB88538). MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction cytoplasm|ubiquitin ligase complex identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 20 CTGCATGGCATACGTGTGCTG 0.458000 16 38 0 0 1 0 0 HLCS 3141 broad.mit.edu 37 21 38309557 38309557 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr21:38309557C>A ENST00000399120.1 - 5 1418 c.188G>T c.(187-189)aGa>aTa p.R63I HLCS_ENST00000336648.4_Missense_Mutation_p.R63I NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 63 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) TGGGTCATCTCTGCCAACATG 0.557000 21 39 2.4624e-09 2.61517e-09 1 1 0 RICTOR 253260 broad.mit.edu 37 5 38950364 38950364 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:38950364C>G ENST00000357387.3 - 31 3616 c.3586G>C c.(3586-3588)Gaa>Caa p.E1196Q RICTOR_ENST00000296782.5_Missense_Mutation_p.E1196Q NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 1196 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) CTTGTATTTTCTCTGTGATTC 0.378000 36 122 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596864 39596864 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:39596864C>G ENST00000246646.3 - 1 309 c.310G>C c.(310-312)Gag>Cag p.E104Q NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 104 Head. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) GTCTCCTTCTCATGGCCATTC 0.582000 41 90 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43323422 43323422 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr6:43323422G>A ENST00000361428.2 - 4 1727 c.1650C>T c.(1648-1650)tcC>tcT p.S550S ZNF318_ENST00000318149.3_Silent_p.S550S NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 550 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCTTTGGTACGGATTCTGCCT 0.478000 52 255 0 0 1 0 0 KIAA2013 90231 broad.mit.edu 37 1 11982702 11982702 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:11982702G>A ENST00000376572.3 - 2 2063 c.1878C>T c.(1876-1878)ttC>ttT p.F626F KIAA2013_ENST00000376576.3_Silent_p.F626F NM_138346.2 NP_612355.1 Q8IYS2 K2013_HUMAN KIAA2013 626 integral to membrane endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTTACTCCTGAAGAGGGGCT 0.597000 6 5 0 0 1 0 0 GPRIN2 9721 broad.mit.edu 37 10 46999073 46999073 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:46999073G>C ENST00000374314.4 + 1 1148 c.193G>C c.(193-195)Gag>Cag p.E65Q GPRIN2_ENST00000374317.1_Missense_Mutation_p.E65Q O60269 GRIN2_HUMAN G protein regulated inducer of neurite outgrowth 2 65 breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 18 CCCGGAGGAAGAGGGGAACCC 0.692000 14 66 0 0 1 0 0 CCNE2 9134 broad.mit.edu 37 8 95905116 95905116 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:95905116C>T ENST00000520509.1 - 5 499 c.247G>A c.(247-249)Gat>Aat p.D83N CCNE2_ENST00000308108.4_Missense_Mutation_p.D83N|CCNE2_ENST00000396133.3_Missense_Mutation_p.D83N|CCNE2_ENST00000523476.1_5'UTR O96020 CCNE2_HUMAN cyclin E2 83 cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity cytosol|nucleoplasm protein kinase binding cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1) 11 Breast(36;8.75e-07) CTGGAGAAATCACTTGTTCCT 0.303000 41 29 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39452398 39452398 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:39452398G>A ENST00000280481.7 + 22 9015 c.8799G>A c.(8797-8799)atG>atA p.M2933I NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2933 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATAGTCCAATGAATGCAGAAT 0.408000 22 57 0 0 1 0 0 ATP1B3 483 broad.mit.edu 37 3 141640822 141640822 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:141640822G>A ENST00000539728.1 + 8 857 c.564G>A c.(562-564)atG>atA p.M188I ATP1B3_ENST00000484727.1_3'UTR|ATP1B3_ENST00000286371.3_Missense_Mutation_p.E196K|ATP1B3_ENST00000462082.1_Intron P54709 AT1B3_HUMAN ATPase, Na+/K+ transporting, beta 3 polypeptide 0 ATP biosynthetic process|blood coagulation|leukocyte migration melanosome|sodium:potassium-exchanging ATPase complex protein binding|sodium:potassium-exchanging ATPase activity cervix(1)|endometrium(1)|lung(2) 4 ACTTCAGAATGAAGATATACC 0.279000 26 52 0 0 1 0 0 CXorf58 254158 broad.mit.edu 37 X 23956728 23956728 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chrX:23956728C>T ENST00000379211.3 + 8 1399 c.850C>T c.(850-852)Ctg>Ttg p.L284L NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 284 p.L284M(1) breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 AGTTAAATTTCTGGGTCGTCG 0.338000 40 36 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204003357 204003357 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr2:204003357G>C ENST00000449802.1 + 30 4980 c.4647G>C c.(4645-4647)atG>atC p.M1549I NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1549 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TAGAGGATATGATGCTGCTCT 0.338000 15 67 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91491502 91491502 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:91491502C>T ENST00000394275.2 + 15 2516 c.1681C>T c.(1681-1683)Cag>Tag p.Q561* UNC45A_ENST00000418476.2_Nonsense_Mutation_p.Q576* NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 576 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) AGCTCTGTTCCAGCTCAGCAG 0.592000 33 59 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3424435 3424435 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:3424435C>G ENST00000356575.4 - 14 1939 c.1713G>C c.(1711-1713)caG>caC p.Q571H MEGF6_ENST00000294599.4_Missense_Mutation_p.Q466H NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 571 EGF-like 10. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) TCCCACCATTCTGACAGCTGC 0.602000 23 44 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10447069 10447069 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:10447069C>T ENST00000245503.5 - 8 1084 c.700G>A c.(700-702)Ggc>Agc p.G234S CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.G234S|MYH2_ENST00000532183.2_Missense_Mutation_p.G234S NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 234 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TTGGCGTTGCCAAAGGCCTCC 0.488000 35 31 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000321 56000321 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:56000321G>A ENST00000313264.4 - 1 416 c.341C>T c.(340-342)tCa>tTa p.S114L NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) GGTAATAACTGAGGAATAGCA 0.378000 23 16 0 0 1 0 0 HRSP12 10247 broad.mit.edu 37 8 99118185 99118185 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:99118185G>A ENST00000254878.3 - 4 420 c.276C>T c.(274-276)gtC>gtT p.V92V NM_005836.2 NP_005827.1 P52758 UK114_HUMAN heat-responsive protein 12 92 regulation of translational termination nucleus endonuclease activity large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1) 6 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.214) AGATTTCATTGACAGTATTGA 0.303000 17 147 0 0 1 0 0 SPARC 6678 broad.mit.edu 37 5 151047138 151047138 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:151047138C>T ENST00000231061.4 - 7 788 c.475G>A c.(475-477)Gag>Aag p.E159K SPARC_ENST00000537849.1_5'UTR NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 159 ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TCGGTCAGCTCAGAGTCCAGG 0.617000 10 12 0 0 1 0 0 NFKBIL1 4795 broad.mit.edu 37 6 31516150 31516150 + Missense_Mutation SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr6:31516150G>T ENST00000376148.4 + 2 382 c.268G>T c.(268-270)Gac>Tac p.D90Y NFKBIL1_ENST00000376145.4_Missense_Mutation_p.D90Y NM_005007.3 NP_004998.3 Q9UBC1 IKBL1_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1 90 cytoplasmic sequestering of transcription factor protein binding breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 GCTCGGGGCTGACCCTGCCCA 0.687000 7 6 0.00198382 0.00201147 1 1 0 GCOM1 145781 broad.mit.edu 37 15 57917989 57917989 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:57917989C>T ENST00000574161.1 + 5 543 c.424C>T c.(424-426)Cag>Tag p.Q142* MYZAP_ENST00000267853.5_Nonsense_Mutation_p.Q142*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.Q142*|GCOM1_ENST00000380568.3_Nonsense_Mutation_p.Q142*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.Q111*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.Q111*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.Q142*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.Q142*|GCOM1_ENST00000380560.2_Intron|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.Q142*|POLR2M_ENST00000380563.2_5'UTR NM_001018100.3 NP_001018110.1 P0CAP1 GCOM1_HUMAN 142 intracellular signal transduction extrinsic to internal side of plasma membrane|I band endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 TTCCCATGCTCAGCAGGAGTA 0.478000 20 43 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 58 0 0 1 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671931 39671931 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr21:39671931C>T ENST00000328656.4 + 4 1051 c.748C>T c.(748-750)Ctg>Ttg p.L250L KCNJ15_ENST00000398934.1_Silent_p.L250L|KCNJ15_ENST00000398932.1_Silent_p.L250L|KCNJ15_ENST00000398930.1_Silent_p.L250L|KCNJ15_ENST00000398938.2_Silent_p.L250L NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3 NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2 Q99712 IRK15_HUMAN potassium inwardly-rectifying channel, subfamily J, member 15 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CTTCCTCATTCTGCCCATGAC 0.557000 16 25 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94528162 94528162 + Silent SNP C C T rs61752400 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:94528162C>T ENST00000370225.3 - 13 1994 c.1908G>A c.(1906-1908)caG>caA p.Q636Q ABCA4_ENST00000535735.1_Silent_p.Q636Q NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 636 Q -> H (in STGD1). phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGTAGGGCATCTGCTGGAGGT 0.597000 9 32 0 0 1 0 0 AKAP6 9472 broad.mit.edu 37 14 33291385 33291385 + Missense_Mutation SNP G G A rs150591358 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:33291385G>A ENST00000280979.4 + 13 4536 c.4366G>A c.(4366-4368)Gaa>Aaa p.E1456K AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 1456 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) CTGTTTGGGAGAAGAATTACA 0.363000 19 36 0 0 1 0 0 TTC16 158248 broad.mit.edu 37 9 130493029 130493029 + Nonsense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:130493029C>A ENST00000373289.3 + 14 2047 c.1967C>A c.(1966-1968)tCg>tAg p.S656* TTC16_ENST00000489226.1_3'UTR NM_144965.1 NP_659402.1 Q8NEE8 TTC16_HUMAN tetratricopeptide repeat domain 16 656 binding central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1) 22 ACGCAATCCTCGGACTCTGGG 0.567000 16 16 2.31682e-05 2.38232e-05 1 1 0 SYNE3 161176 broad.mit.edu 37 14 95932474 95932474 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:95932474C>T ENST00000334258.5 - 3 435 c.421G>A c.(421-423)Gag>Aag p.E141K SYNE3_ENST00000557275.1_Missense_Mutation_p.E141K|SYNE3_ENST00000553340.1_Missense_Mutation_p.E141K NM_152592.3 NP_689805.3 spectrin repeat containing, nuclear envelope family member 3 breast(1)|endometrium(2)|lung(25) 28 AGCTGGAGCTCGATGTGGGGC 0.627000 32 56 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39377048 39377048 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:39377048G>C ENST00000545653.1 - 11 2308 c.1778C>G c.(1777-1779)tCt>tGt p.S593C DAB2_ENST00000320816.6_Missense_Mutation_p.S614C|DAB2_ENST00000509337.1_Missense_Mutation_p.S593C|DAB2_ENST00000339788.6_Missense_Mutation_p.S396C NM_001244871.1 NP_001231800.1 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 614 cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GACCAGGAGAGAGGAGTGCAT 0.547000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 73 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65756223 65756223 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:65756223G>A ENST00000341861.5 - 15 3475 c.1895C>T c.(1894-1896)cCt>cTt p.P632L DPP8_ENST00000321118.7_Missense_Mutation_p.P632L|DPP8_ENST00000339244.5_Missense_Mutation_p.P459L|DPP8_ENST00000559233.1_Missense_Mutation_p.P632L|DPP8_ENST00000321147.6_Missense_Mutation_p.P632L|DPP8_ENST00000358939.4_Missense_Mutation_p.P616L|DPP8_ENST00000300141.6_Missense_Mutation_p.P616L NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 632 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AATTTCTGGAGGAGTATAGTC 0.388000 14 43 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216270481 216270481 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:216270481C>G ENST00000366943.2 - 22 5088 c.4702G>C c.(4702-4704)Gag>Cag p.E1568Q USH2A_ENST00000307340.3_Missense_Mutation_p.E1568Q O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1568 Laminin G-like 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCAAAATACTCTTCCTGATTG 0.363000 HNSCC(13;0.011) 33 35 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111164349 111164349 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:111164349C>T ENST00000360467.5 + 48 5256 c.4950C>T c.(4948-4950)ttC>ttT p.F1650F NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1650 Collagen IV NC1. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TAGAGGACTTCCGCGCCACAC 0.622000 30 78 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130078553 130078553 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:130078553C>T ENST00000278742.5 + 17 2661 c.2243C>T c.(2242-2244)aCg>aTg p.T748M NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 748 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) ATCTGGGTCACGGGCTGGGGA 0.647000 3 18 0 0 1 0 0 KIF14 9928 broad.mit.edu 37 1 200567476 200567476 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:200567476G>A ENST00000367350.4 - 14 2876 c.2438C>T c.(2437-2439)tCt>tTt p.S813F NM_014875.2 NP_055690.1 Q15058 KIF14_HUMAN kinesin family member 14 813 microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 61 CAGCATCTCAGATAGTTGTGG 0.343000 17 40 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45523962 45523962 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:45523962C>G ENST00000379161.4 - 8 1079 c.1033G>C c.(1033-1035)Gag>Cag p.E345Q NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 345 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) GGTTTCTCCTCCTTATCAGAC 0.438000 16 28 0 0 1 0 0 PYGB 5834 broad.mit.edu 37 20 25228820 25228820 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:25228820G>A ENST00000216962.4 + 1 116 c.6G>A c.(4-6)gcG>gcA p.A2A NM_002862.3 NP_002853.2 P11216 PYGB_HUMAN phosphorylase, glycogen; brain 2 AK -> GE (in Ref. 1 and 2). glucose metabolic process|glycogen catabolic process cytoplasm glycogen phosphorylase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 31 Pyridoxal Phosphate(DB00114) GCGCGATGGCGAAGCCGCTGA 0.692000 4 43 0 0 1 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103470282 103470282 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:103470282G>C ENST00000361246.2 - 4 718 c.430C>G c.(430-432)Cag>Gag p.Q144E NM_006035.3 NP_006026.3 Q9Y5S2 MRCKB_HUMAN CDC42 binding protein kinase beta (DMPK-like) 144 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TTCTCGTCCTGAAAGGCGTAG 0.572000 11 12 0 0 1 0 0 KIAA1958 158405 broad.mit.edu 37 9 115422016 115422016 + Silent SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:115422016G>C ENST00000337530.6 + 4 2114 c.1818G>C c.(1816-1818)cgG>cgC p.R606R KIAA1958_ENST00000536272.1_Silent_p.R634R NM_133465.2 NP_597722.1 Q8N8K9 K1958_HUMAN KIAA1958 606 endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3) 25 GGGAGAGTCGGAGCGGCTCCA 0.562000 13 8 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148012531 148012531 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:148012531C>T ENST00000369219.1 - 12 1444 c.1428G>A c.(1426-1428)aaG>aaA p.K476K Q5TI25 NBPFE_HUMAN neuroblastoma breakpoint family, member 14 476 NBPF 5. cytoplasm p.K476K(2)|p.K476N(1) NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) AGCCAACATGCTTTTCCTCCA 0.443000 3 10 0 0 1 0 0 TOP1 7150 broad.mit.edu 37 20 39704876 39704876 + Nonsense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:39704876C>G ENST00000361337.2 + 4 471 c.221C>G c.(220-222)tCa>tGa p.S74* NM_003286.2 NP_003277.1 P11387 TOP1_HUMAN topoisomerase (DNA) I 74 Lys-rich. DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug chromosome|nucleolus|nucleoplasm ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(115;0.00878) Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030) gatggaagctcagaaaagcat 0.388000 T NUP98 AML* 33 67 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201983137 201983137 + Missense_Mutation SNP T T C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:201983137T>C ENST00000359651.3 + 7 4178 c.986T>C c.(985-987)cTg>cCg p.L329P ELF3_ENST00000367284.5_Missense_Mutation_p.L329P|ELF3_ENST00000367283.3_Missense_Mutation_p.L329P|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 329 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 TACGAGAAGCTGAGCCGGGCC 0.602000 5 10 0 0 1 0 0 ERO1L 30001 broad.mit.edu 37 14 53110323 53110323 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:53110323C>G ENST00000395686.3 - 16 1595 c.1372G>C c.(1372-1374)Gaa>Caa p.E458Q NM_014584.1 NP_055399.1 Q96HE7 ERO1A_HUMAN ERO1-like (S. cerevisiae) 458 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) CTGAAGTTTTCTAATTCTTTC 0.303000 9 36 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62985084 62985084 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:62985084G>A ENST00000561311.1 + 12 1389 c.1159G>A c.(1159-1161)Gag>Aag p.E387K TLN2_ENST00000306829.6_Missense_Mutation_p.E387K Q9Y4G6 TLN2_HUMAN talin 2 387 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton p.E387K(1) NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 ACAAACCACCGAGGGAGAGCA 0.388000 30 73 0 0 1 0 0 APAF1 317 broad.mit.edu 37 12 99076980 99076980 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:99076980C>T ENST00000357310.1 + 15 2683 c.2106C>T c.(2104-2106)gtC>gtT p.V702V APAF1_ENST00000550527.1_Silent_p.V691V|APAF1_ENST00000547045.1_Silent_p.V702V|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000359972.2_Silent_p.V691V|APAF1_ENST00000551964.1_Silent_p.V702V|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Silent_p.V702V|APAF1_ENST00000549007.1_Silent_p.V702V NM_181868.1 NP_863658.1 O14727 APAF_HUMAN apoptotic peptidase activating factor 1 702 activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development cytosol|Golgi apparatus|nucleus ATP binding|caspase activator activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1) 42 Adenosine triphosphate(DB00171) CAGAGCAAGTCAATTGCTGCC 0.378000 9 30 0 0 1 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 93 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85334051 85334051 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:85334051C>G ENST00000299927.3 + 2 2358 c.2336C>G c.(2335-2337)tCt>tGt p.S779C ZNF592_ENST00000560079.2_Missense_Mutation_p.S779C Q92610 ZN592_HUMAN zinc finger protein 592 779 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCTGCCGCTCTGCCTACTTC 0.592000 7 85 0 0 1 0 0 SLC44A2 57153 broad.mit.edu 37 19 10747259 10747259 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:10747259C>T ENST00000586078.1 + 15 1603 c.1494C>T c.(1492-1494)ctC>ctT p.L498L SLC44A2_ENST00000335757.5_Silent_p.L498L|SLC44A2_ENST00000407327.4_Silent_p.L496L NM_020428.3 NP_065161.3 Q8IWA5 CTL2_HUMAN solute carrier family 44 (choline transporter), member 2 498 positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane|plasma membrane choline transmembrane transporter activity|signal transducer activity NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Epithelial(33;8.7e-06)|all cancers(31;2.77e-05) Choline(DB00122) GCCGGGCGCTCAGGTGGGCTG 0.711000 20 28 0 0 1 0 0 SFXN3 81855 broad.mit.edu 37 10 102795805 102795805 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:102795805C>G ENST00000393459.1 + 5 851 c.378C>G c.(376-378)ttC>ttG p.F126L SFXN3_ENST00000224807.5_Missense_Mutation_p.F130L Q9BWM7 SFXN3_HUMAN sideroflexin 3 130 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Colorectal(252;0.234) Epithelial(162;6.98e-09)|all cancers(201;3.55e-07) ATCAGTCCTTCAATGCCATTG 0.557000 18 20 0 0 1 0 0 SETD6 79918 broad.mit.edu 37 16 58552846 58552846 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:58552846G>A ENST00000394266.4 + 9 1184 c.1128G>A c.(1126-1128)gcG>gcA p.A376A SETD6_ENST00000219315.4_Silent_p.A445A|SETD6_ENST00000310682.2_Silent_p.A421A Q8TBK2 SETD6_HUMAN SET domain containing 6 445 negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response nucleus NF-kappaB binding|protein-lysine N-methyltransferase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 7 AAGTCTATGCGAAACTCAGCT 0.443000 8 63 0 0 1 0 0 CCNB1 891 broad.mit.edu 37 5 68470094 68470094 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:68470094G>C ENST00000256442.5 + 5 816 c.563G>C c.(562-564)aGa>aCa p.R188T NM_031966.3 NP_114172.1 P14635 CCNB1_HUMAN cyclin B1 188 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole large_intestine(2)|lung(5)|skin(1) 8 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CAAGCAGTCAGACCAAAATAC 0.418000 10 72 0 0 1 0 0 POGK 57645 broad.mit.edu 37 1 166818925 166818925 + Missense_Mutation SNP T T C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:166818925T>C ENST00000367875.1 + 5 1469 c.1109T>C c.(1108-1110)tTa>tCa p.L370S POGK_ENST00000367876.4_Missense_Mutation_p.L370S|POGK_ENST00000536514.1_Missense_Mutation_p.L285S|POGK_ENST00000537173.1_Missense_Mutation_p.L252S Q9P215 POGK_HUMAN pogo transposable element with KRAB domain 370 DDE. multicellular organismal development|regulation of transcription, DNA-dependent nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 22 CCCATTTGTTTAGAGGTGCCA 0.517000 23 48 0 0 1 0 0 WFDC10A 140832 broad.mit.edu 37 20 44259562 44259562 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:44259562C>T ENST00000372643.3 + 2 433 c.145C>T c.(145-147)Cta>Tta p.L49L WFDC9_ENST00000326000.1_Intron NM_080753.2 NP_542791.1 Q9H1F0 WF10A_HUMAN WAP four-disulfide core domain 10A 49 WAP. extracellular region serine-type endopeptidase inhibitor activity large_intestine(2) 2 Myeloproliferative disorder(115;0.0122) TAAACTATATCTATGCAAACA 0.423000 12 61 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86961305 86961305 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:86961305G>C ENST00000234701.3 + 13 2411 c.2060G>C c.(2059-2061)aGa>aCa p.R687T CLCA1_ENST00000394711.1_Missense_Mutation_p.R687T A8K7I4 CLCA1_HUMAN chloride channel accessory 1 687 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCCAGACGGAGAGTGATACCC 0.458000 10 18 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169507229 169507229 + Silent SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:169507229C>G ENST00000256935.8 + 50 5309 c.5229C>G c.(5227-5229)ctC>ctG p.L1743L DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Silent_p.L804L|DOCK2_ENST00000520908.1_Silent_p.L1235L NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1743 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCATCCCCCTCAAGGCGTCTG 0.547000 14 26 0 0 1 0 0 NFATC2IP 84901 broad.mit.edu 37 16 28967368 28967368 + Silent SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:28967368C>A ENST00000320805.4 + 4 723 c.648C>A c.(646-648)ctC>ctA p.L216L NFATC2IP_ENST00000562977.1_Intron|NFATC2IP_ENST00000564978.1_Intron NM_032815.3 NP_116204.3 Q8NCF5 NF2IP_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 interacting protein 216 cytoplasm|nucleus breast(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(2) 11 CTCGGGCACTCAAGAAGTTAA 0.577000 22 47 8.04996e-18 8.70832e-18 1 1 0 ZC3H12A 80149 broad.mit.edu 37 1 37949105 37949105 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:37949105C>A ENST00000373087.6 + 6 1809 c.1693C>A c.(1693-1695)Ccc>Acc p.P565T NM_025079.2 NP_079355.2 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 565 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGTGTGTTTCCCCCGCACCT 0.672000 17 37 9.16793e-09 9.66619e-09 1 1 0 TRANK1 9881 broad.mit.edu 37 3 36873954 36873954 + Silent SNP T T G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:36873954T>G ENST00000429976.2 - 21 7235 c.6988A>C c.(6988-6990)Agg>Cgg p.R2330R TRANK1_ENST00000428977.2_Silent_p.R1780R|TRANK1_ENST00000301807.6_Silent_p.R1780R NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 2330 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 CCTCTCCCCCTGCCCCTTTCA 0.493000 9 76 0 0 1 0 0 BLZF1 8548 broad.mit.edu 37 1 169356242 169356242 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:169356242G>C ENST00000367808.3 + 7 1448 c.1025G>C c.(1024-1026)aGa>aCa p.R342T BLZF1_ENST00000329281.2_Missense_Mutation_p.R342T Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 342 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 14 all_hematologic(923;0.208) TAGGTTCTAAGAATTTTAGAT 0.328000 23 38 0 0 1 0 0 PKN2 5586 broad.mit.edu 37 1 89298481 89298481 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:89298481G>A ENST00000370521.3 + 20 2976 c.2617G>A c.(2617-2619)Gaa>Aaa p.E873K PKN2_ENST00000370505.3_Missense_Mutation_p.E716K|PKN2_ENST00000370513.5_Missense_Mutation_p.E825K|PKN2_ENST00000544045.1_Missense_Mutation_p.E547K NM_006256.2 NP_006247.1 Q16513 PKN2_HUMAN protein kinase N2 873 Protein kinase. signal transduction cytoplasm ATP binding|histone deacetylase binding|protein kinase C activity breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1) 33 Lung NSC(277;0.123) all cancers(265;0.0136)|Epithelial(280;0.0301) TGTAAATGATGAAGTAAGGTA 0.313000 58 102 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115527399 115527399 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:115527399G>C ENST00000369522.3 + 30 2853 c.2613G>C c.(2611-2613)ttG>ttC p.L871F SYCP1_ENST00000369518.1_Missense_Mutation_p.L871F|SYCP1_ENST00000477590.1_Intron NM_001282541.1|NM_003176.2 NP_001269470.1|NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 871 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGAAAACTTGAATATACCCA 0.269000 45 121 0 0 1 0 0 F2RL1 2150 broad.mit.edu 37 5 76129503 76129503 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:76129503C>T ENST00000296677.4 + 2 1277 c.1071C>T c.(1069-1071)aaC>aaT p.N357N NM_005242.4 NP_005233 P55085 PAR2_HUMAN coagulation factor II (thrombin) receptor-like 1 357 blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation Golgi apparatus|integral to plasma membrane receptor binding|thrombin receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 13 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41) ATGCAAAGAACGCTCTCCTTT 0.463000 4 237 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141582911 141582911 + Splice_Site SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:141582911C>G ENST00000220592.5 - 3 448 c.336G>C c.(334-336)aaG>aaC p.K112N AGO2_ENST00000517293.1_5'UTR|AGO2_ENST00000519980.1_Splice_Site_p.K112N NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 GCGAGCTTACCTTGTCCCTCC 0.488000 10 73 0 0 1 0 0 RBCK1 10616 broad.mit.edu 37 20 390551 390551 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:390551C>G ENST00000356286.5 + 2 754 c.49C>G c.(49-51)Cga>Gga p.R17G RBCK1_ENST00000400247.3_Intron|RBCK1_ENST00000353660.3_Intron|RBCK1_ENST00000382181.2_Intron|RBCK1_ENST00000400245.3_3'UTR|RBCK1_ENST00000475269.1_Missense_Mutation_p.R17G NM_031229.2 NP_112506.2 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 1 17 Interaction with IRF3.|Interaction with TAB2. interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(1)|lung(4) 5 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) GAGCCTCACCCGAGCAGTGGC 0.572000 21 176 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36484068 36484068 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:36484068C>T ENST00000342292.4 - 11 5404 c.5384G>A c.(5383-5385)gGc>gAc p.G1795D GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1795 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGGCCTGCAGCCCATATGATC 0.557000 37 85 0 0 1 0 0 CENPP 401541 broad.mit.edu 37 9 95094486 95094486 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:95094486G>C ENST00000375587.3 + 2 657 c.142G>C c.(142-144)Gaa>Caa p.E48Q NM_001012267.1 NP_001012267.1 Q6IPU0 CENPP_HUMAN centromere protein P 48 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(1) 16 ATTCAATTTGGAAGGATGGAA 0.318000 27 18 0 0 1 0 0 RHOB 388 broad.mit.edu 37 2 20647508 20647508 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr2:20647508C>G ENST00000272233.4 + 1 674 c.282C>G c.(280-282)aaC>aaG p.N94K NM_004040.2 NP_004031.1 P62745 RHOB_HUMAN ras homolog family member B 94 angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis cytosol|late endosome membrane|nucleus|plasma membrane GTP binding|GTPase activity|protein binding breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164) OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19) CGCTGGAGAACATCCCCGAGA 0.622000 104 62 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77451016 77451016 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:77451016C>G ENST00000560626.2 - 5 3635 c.3160G>C c.(3160-3162)Gag>Cag p.E1054Q PEAK1_ENST00000312493.4_Missense_Mutation_p.E1054Q Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 1054 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GAAAAATCCTCTGTTACTTCA 0.433000 18 28 0 0 1 0 0 UBE2M 9040 broad.mit.edu 37 19 59067689 59067689 + Silent SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:59067689G>C ENST00000253023.3 - 5 983 c.405C>G c.(403-405)ctC>ctG p.L135L NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 135 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TCACCAAGAAGAGATACTGCA 0.547000 24 72 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37732580 37732580 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:37732580C>G ENST00000330843.4 - 3 1087 c.1075G>C c.(1075-1077)Gag>Cag p.E359Q RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.E211Q|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.E359Q|RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.E211Q NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 359 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GCCAGGTTCTCTGTAGAAGAG 0.567000 116 65 0 0 1 0 0 OR13J1 392309 broad.mit.edu 37 9 35870121 35870121 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:35870121G>C ENST00000377981.2 - 1 340 c.278C>G c.(277-279)tCc>tGc p.S93C NM_001004487.1 NP_001004487.1 Q8NGT2 O13J1_HUMAN olfactory receptor, family 13, subfamily J, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1) 6 all_epithelial(49;0.169) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194) GACAGCAAAGGAGATGGTCTT 0.587000 10 43 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155286072 155286072 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:155286072C>G ENST00000460012.1 - 7 1080 c.723G>C c.(721-723)aaG>aaC p.K241N PLCH1_ENST00000494598.1_Missense_Mutation_p.K259N|PLCH1_ENST00000334686.6_Missense_Mutation_p.K241N|PLCH1_ENST00000414191.1_Missense_Mutation_p.K241N|PLCH1_ENST00000340059.7_Missense_Mutation_p.K259N|PLCH1_ENST00000447496.2_Missense_Mutation_p.K259N Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 259 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTTCAAACTTCTTTATGATGT 0.313000 18 66 0 0 1 0 0 IER2 9592 broad.mit.edu 37 19 13264165 13264165 + Silent SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:13264165C>G ENST00000588173.1 + 1 1377 c.165C>G c.(163-165)ctC>ctG p.L55L CTC-250I14.6_ENST00000586483.1_RNA|CTC-250I14.6_ENST00000592882.1_RNA|IER2_ENST00000587885.1_Silent_p.L55L|IER2_ENST00000292433.3_Silent_p.L55L Q9BTL4 IER2_HUMAN immediate early response 2 55 kidney(1)|lung(1)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) TGGAGGCCCTCGAGCCCGAGG 0.731000 OREG0025291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 6 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109814054 109814054 + Missense_Mutation SNP A A G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:109814054A>G ENST00000271332.3 + 27 7784 c.7723A>G c.(7723-7725)Acg>Gcg p.T2575A CELSR2_ENST00000498157.1_3'UTR NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 2575 dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCTGAGCGCCACGTGGCTGCT 0.637000 24 57 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154396605 154396605 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:154396605C>T ENST00000435029.4 + 1 3346 c.3186C>T c.(3184-3186)ggC>ggT p.G1062G NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1062 Globular (By similarity).|Interaction with PRC1 (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) atggtgatggcgacagtgatg 0.458000 18 22 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133254026 133254026 + Missense_Mutation SNP G G C rs148525573 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:133254026G>C ENST00000320574.5 - 8 767 c.724C>G c.(724-726)Cat>Gat p.H242D POLE_ENST00000535270.1_Missense_Mutation_p.H215D NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 242 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TTGTACCAATGAGCCTGCAAA 0.438000 DNA polymerases (catalytic subunits) 10 24 0 0 1 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128856449 128856449 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:128856449C>T ENST00000310343.9 - 13 1370 c.1371G>A c.(1369-1371)ctG>ctA p.L457L ARHGAP32_ENST00000392657.3_Silent_p.L108L|ARHGAP32_ENST00000524655.1_Silent_p.L383L|ARHGAP32_ENST00000527272.1_Silent_p.L108L NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 457 Rho-GAP. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 GGTAGGTAAGCAGAGGGTTTG 0.448000 8 65 0 0 1 0 0 UBE2M 9040 broad.mit.edu 37 19 59068071 59068071 + Silent SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:59068071G>C ENST00000253023.3 - 4 908 c.330C>G c.(328-330)gtC>gtG p.V110V NM_003969.3 NP_003960.1 P61081 UBC12_HUMAN ubiquitin-conjugating enzyme E2M 110 protein neddylation ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 5 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TGTTGAGGCAGACGTTGCCCT 0.587000 10 42 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168093506 168093506 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:168093506C>G ENST00000519560.1 - 36 4944 c.4525G>C c.(4525-4527)Gaa>Caa p.E1509Q CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1516Q NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 1509 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCACCTCTTCTACAAACGAG 0.632000 5 7 0 0 1 0 0 APOL6 80830 broad.mit.edu 37 22 36055131 36055131 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:36055131C>G ENST00000409652.4 + 3 796 c.520C>G c.(520-522)Ctt>Gtt p.L174V NM_030641.3 NP_085144.1 Q9BWW8 APOL6_HUMAN apolipoprotein L, 6 lipoprotein metabolic process cytoplasm|extracellular region lipid binding|lipid transporter activity haematopoietic_and_lymphoid_tissue(1)|lung(4) 5 TATCTATAATCTTAGAAACAC 0.493000 12 61 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964231 94964231 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:94964231C>T ENST00000341228.2 - 3 1299 c.504G>A c.(502-504)caG>caA p.Q168Q SERPINA12_ENST00000556881.1_Silent_p.Q168Q NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 168 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) TTTCCAAATTCTGAAAGTTGG 0.438000 47 78 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88987022 88987022 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr4:88987022G>A ENST00000237596.2 + 12 2415 c.2349G>A c.(2347-2349)gaG>gaA p.E783E PKD2_ENST00000508588.1_Silent_p.E201E|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Silent_p.E201E NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 783 EF-hand domain.|EF-hand. basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) ACGACTTGGAGAAAGAGAGGG 0.433000 23 19 0 0 1 0 0 CD46 4179 broad.mit.edu 37 1 207934593 207934593 + Splice_Site SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:207934593G>C ENST00000358170.2 + 5 631 c.e5-1 CD46_ENST00000322875.4_Splice_Site|CD46_ENST00000361067.1_Splice_Site|CD46_ENST00000367047.1_Splice_Site|CD46_ENST00000322918.5_Splice_Site|CD46_ENST00000367042.1_Splice_Site|CD46_ENST00000367041.1_Splice_Site|CD46_ENST00000441839.2_Splice_Site|CD46_ENST00000360212.2_Splice_Site|CD46_ENST00000480003.1_Splice_Site|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000354848.1_Splice_Site|CD46_ENST00000357714.1_Splice_Site NM_002389.4 NP_002380.3 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 TCATTTTTAAGAGGTTTTGTG 0.299000 14 26 0 0 1 0 0 P2RX2 22953 broad.mit.edu 37 12 133198505 133198505 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:133198505G>A ENST00000389110.3 + 11 1400 c.1363G>A c.(1363-1365)Gag>Aag p.E455K P2RX2_ENST00000351222.4_Missense_Mutation_p.E363K|P2RX2_ENST00000348800.5_Missense_Mutation_p.E388K|P2RX2_ENST00000343948.4_Missense_Mutation_p.E481K|P2RX2_ENST00000449132.2_Missense_Mutation_p.E354K|P2RX2_ENST00000352418.4_Missense_Mutation_p.E383K|P2RX2_ENST00000350048.5_Missense_Mutation_p.E431K NM_170682.2|NM_170683.2|NM_174873.1 NP_733782.1|NP_733783.1|NP_777362.1 Q9UBL9 P2RX2_HUMAN purinergic receptor P2X, ligand-gated ion channel, 2 455 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization integral to membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3) 20 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0767) OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06) TCCTGCCTCCGAGCCTGCCCA 0.652000 8 53 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151677544 151677544 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:151677544C>T ENST00000290583.4 - 12 2164 c.1371G>A c.(1369-1371)cgG>cgA p.R457R CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Silent_p.R252R|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Silent_p.R407R NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 457 RRM 3. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 CATCCTTAGGCCGCTTTAGCT 0.627000 3 51 0 0 1 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20527419 20527419 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:20527419G>A ENST00000202677.7 - 24 3221 c.3214C>T c.(3214-3216)Cct>Tct p.P1072S NM_020343.3 NP_065076.2 Q2PPJ7 RGPA2_HUMAN Ral GTPase activating protein, alpha subunit 2 (catalytic) activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 54 GAGAAGCCAGGAAAACCCAGG 0.473000 4 46 0 0 1 0 0 AKR1E2 83592 broad.mit.edu 37 10 4879744 4879744 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:4879744G>A ENST00000298375.7 + 5 624 c.553G>A c.(553-555)Ggg>Agg p.G185R AKR1E2_ENST00000334019.4_Missense_Mutation_p.G185R|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000532248.1_Missense_Mutation_p.G185R NM_001040177.2 NP_001035267.1 Q96JD6 AKCL2_HUMAN aldo-keto reductase family 1, member E2 185 cytoplasm 1,5-anhydro-D-fructose reductase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9) 15 GAATAAGCCTGGGTTGAGGTT 0.537000 21 39 0 0 1 0 0 NVL 4931 broad.mit.edu 37 1 224488310 224488310 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:224488310G>A ENST00000281701.6 - 10 1275 c.1016C>T c.(1015-1017)tCc>tTc p.S339F NVL_ENST00000482491.1_Missense_Mutation_p.S63F|NVL_ENST00000361463.3_Missense_Mutation_p.S233F|NVL_ENST00000340871.4_Missense_Mutation_p.S150F|NVL_ENST00000469075.1_Missense_Mutation_p.S248F|NVL_ENST00000391875.2_Missense_Mutation_p.S233F NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 339 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) AGACTCTCCGGATACTCCAGA 0.408000 15 19 0 0 1 0 0 RPL19 6143 broad.mit.edu 37 17 37360850 37360850 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:37360850G>C ENST00000579260.1 + 6 937 c.534G>C c.(532-534)aaG>aaC p.K178N RPL19_ENST00000582193.1_Missense_Mutation_p.K178N|RPL19_ENST00000225430.4_Missense_Mutation_p.K180N|RPL19_ENST00000579374.1_Missense_Mutation_p.K177N P84098 RL19_HUMAN ribosomal protein L19 180 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 TCCAGGCCAAGAAGGAGGAGA 0.512000 22 62 0 0 1 0 0 NUB1 51667 broad.mit.edu 37 7 151049920 151049920 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:151049920C>G ENST00000568733.1 + 5 505 c.439C>G c.(439-441)Caa>Gaa p.Q147E NUB1_ENST00000355851.4_Missense_Mutation_p.Q123E|NUB1_ENST00000413040.2_Missense_Mutation_p.Q147E|NUB1_ENST00000477666.1_3'UTR|NUB1_ENST00000566856.1_Missense_Mutation_p.Q123E Q9Y5A7 NUB1_HUMAN negative regulator of ubiquitin-like proteins 1 123 positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process nucleus protein binding endometrium(1)|large_intestine(7)|lung(3) 11 OV - Ovarian serous cystadenocarcinoma(82;0.00569) UCEC - Uterine corpus endometrioid carcinoma (81;0.172) CTTTGGACTTCAAGAAAATTA 0.279000 15 39 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964360 94964360 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:94964360C>T ENST00000341228.2 - 3 1170 c.375G>A c.(373-375)caG>caA p.Q125Q SERPINA12_ENST00000556881.1_Silent_p.Q125Q NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 125 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.Q125H(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) CCTGGGTCTTCTGGGTCAGCT 0.488000 39 105 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129278515 129278515 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:129278515C>T ENST00000393239.1 - 32 5423 c.5245G>A c.(5245-5247)Gag>Aag p.E1749K PLXND1_ENST00000324093.4_Missense_Mutation_p.E1749K Q9Y4D7 PLXD1_HUMAN plexin D1 1749 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CCCCTCTTCTCAGCCTGCTCC 0.582000 47 62 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246797230 246797230 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:246797230G>C ENST00000366513.4 + 5 890 c.621G>C c.(619-621)gaG>gaC p.E207D CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.E207D NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 207 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 ATTCAGATGAGAAAGCAATGA 0.348000 29 91 0 0 1 0 0 COL5A2 1290 broad.mit.edu 37 2 189931480 189931480 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr2:189931480C>G ENST00000374866.3 - 22 1704 c.1430G>C c.(1429-1431)gGa>gCa p.G477A NM_000393.3 NP_000384.2 P05997 CO5A2_HUMAN collagen, type V, alpha 2 477 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3) 95 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) GCCAGCTTCTCCTTTGAAACC 0.378000 58 52 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34620087 34620087 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:34620087C>T ENST00000374789.3 - 19 3125 c.2800G>A c.(2800-2802)Gat>Aat p.D934N PARD3_ENST00000346874.4_Missense_Mutation_p.D934N|PARD3_ENST00000350537.4_Missense_Mutation_p.D888N|PARD3_ENST00000545260.1_Missense_Mutation_p.D844N|PARD3_ENST00000374773.1_Missense_Mutation_p.D901N|PARD3_ENST00000340077.5_Missense_Mutation_p.D931N|PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374790.3_Missense_Mutation_p.D874N|PARD3_ENST00000544292.1_Missense_Mutation_p.D647N|PARD3_ENST00000545693.1_Missense_Mutation_p.D918N|PARD3_ENST00000374788.3_Missense_Mutation_p.D931N|PARD3_ENST00000374794.3_Missense_Mutation_p.D859N|PARD3_ENST00000374776.1_Missense_Mutation_p.D888N NM_019619.3 NP_062565.2 Q8TEW0 PARD3_HUMAN par-3 family cell polarity regulator 934 Interacts with PRKCZ (By similarity). activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) GCGGGTTTATCATAAGATTTG 0.418000 30 53 0 0 1 0 0 KIDINS220 57498 broad.mit.edu 37 2 8877078 8877078 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr2:8877078C>A ENST00000256707.3 - 27 3818 c.3637G>T c.(3637-3639)Gat>Tat p.D1213Y KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1194Y|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D1114Y|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1194Y NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 1213 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CATACTGCATCCACATTCAGT 0.458000 33 19 8.16721e-17 8.80244e-17 1 1 0 MADD 8567 broad.mit.edu 37 11 47330578 47330578 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:47330578G>C ENST00000311027.5 + 26 4081 c.3916G>C c.(3916-3918)Gag>Cag p.E1306Q MADD_ENST00000407859.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000405573.2_Missense_Mutation_p.E116Q|MADD_ENST00000349238.3_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.E1306Q|MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron NM_003682.3 NP_003673.3 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1306 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) TGCAGCTATGGAGACCTTTTC 0.498000 49 34 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59059181 59059181 + Nonsense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:59059181C>T ENST00000253024.5 + 6 1151 c.862C>T c.(862-864)Cag>Tag p.Q288* TRIM28_ENST00000341753.6_Nonsense_Mutation_p.Q206* NM_005762.2 NP_005753.1 Q13263 TIF1B_HUMAN tripartite motif containing 28 288 Leucine zipper alpha helical coiled-coil region.|RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) GTCTGACGTACAGAAGCGTGT 0.582000 15 72 0 0 1 0 0 KCNH3 23416 broad.mit.edu 37 12 49951250 49951250 + Silent SNP G G A rs140591831 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:49951250G>A ENST00000257981.6 + 15 3026 c.2766G>A c.(2764-2766)tcG>tcA p.S922S NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 922 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CTCGGGCATCGGGAGAGGGGC 0.682000 7 12 0 0 1 0 0 RPL15 6138 broad.mit.edu 37 3 23959442 23959442 + Missense_Mutation SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:23959442G>T ENST00000307839.5 + 2 731 c.92G>T c.(91-93)cGc>cTc p.R31L RPL15_ENST00000456530.2_Missense_Mutation_p.R31L|RPL15_ENST00000435882.1_Missense_Mutation_p.R31L|RPL15_ENST00000413699.1_Missense_Mutation_p.R31L|NKIRAS1_ENST00000421515.2_Intron|RPL15_ENST00000415719.1_Missense_Mutation_p.R31L|RPL15_ENST00000354811.5_Missense_Mutation_p.R31L NM_001253379.1|NM_001253380.1|NM_002948.3 NP_001240308.1|NP_001240309.1|NP_002939.2 P61313 RL15_HUMAN ribosomal protein L15 31 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 7 TGGCAGTACCGCCAGCTCTCT 0.587000 17 26 5.3912e-06 5.603e-06 1 1 0 OR5I1 10798 broad.mit.edu 37 11 55703277 55703277 + Silent SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:55703277G>C ENST00000301532.3 - 1 599 c.600C>G c.(598-600)ctC>ctG p.L200L NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 ATGTGGAGAGGAGCCACTCAT 0.378000 12 6 0 0 1 0 0 DSG4 147409 broad.mit.edu 37 18 28966700 28966700 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr18:28966700G>C ENST00000359747.4 + 3 163 c.134G>C c.(133-135)aGa>aCa p.R45T RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.R45T|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA NM_001134453.1 NP_001127925.1 Q86SJ6 DSG4_HUMAN desmoglein 4 45 homophilic cell adhesion desmosome|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(10;0.00504) CAAACAGTCAGAAGACAAAAG 0.428000 34 38 0 0 1 0 0 C20orf194 25943 broad.mit.edu 37 20 3362059 3362059 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:3362059C>G ENST00000252032.9 - 3 317 c.250G>C c.(250-252)Gag>Cag p.E84Q NM_001009984.2 NP_001009984.1 Q5TEA3 CT194_HUMAN chromosome 20 open reading frame 194 84 NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 39 CCCGTTTTCTCAAAATCACTG 0.363000 16 75 0 0 1 0 0 ZMYND8 23613 broad.mit.edu 37 20 45874931 45874931 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:45874931G>C ENST00000311275.7 - 14 2298 c.2045C>G c.(2044-2046)tCa>tGa p.S682* ZMYND8_ENST00000446994.2_Nonsense_Mutation_p.S619*|ZMYND8_ENST00000372023.3_Nonsense_Mutation_p.S677*|ZMYND8_ENST00000471951.2_Nonsense_Mutation_p.S702*|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Nonsense_Mutation_p.S682*|ZMYND8_ENST00000540497.1_Nonsense_Mutation_p.S630*|ZMYND8_ENST00000262975.4_Nonsense_Mutation_p.S682*|ZMYND8_ENST00000536340.1_Nonsense_Mutation_p.S709*|ZMYND8_ENST00000396281.4_Nonsense_Mutation_p.S682*|ZMYND8_ENST00000360911.3_Nonsense_Mutation_p.S677*|ZMYND8_ENST00000461685.1_Nonsense_Mutation_p.S702*|ZMYND8_ENST00000352431.2_Nonsense_Mutation_p.S702*|ZMYND8_ENST00000458360.2_Nonsense_Mutation_p.S677* NM_001281772.1|NM_001281778.1|NM_001281783.1 NP_001268701.1|NP_001268707.1|NP_001268712.1 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 682 protein binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8) 62 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGGGTGAGGTGAAGGTTTTGC 0.512000 96 110 0 0 1 0 0 RNF40 9810 broad.mit.edu 37 16 30779568 30779568 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:30779568C>G ENST00000324685.6 + 13 2131 c.1696C>G c.(1696-1698)Cca>Gca p.P566A RNF40_ENST00000563683.1_Missense_Mutation_p.P526A|RNF40_ENST00000357890.5_Missense_Mutation_p.P466A|RNF40_ENST00000402121.3_Missense_Mutation_p.P258A NM_001207033.1|NM_014771.3 NP_001193962.1|NP_055586 O75150 BRE1B_HUMAN ring finger protein 40, E3 ubiquitin protein ligase 566 histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2) 30 Colorectal(24;0.198) GGAGATGGCTCCAGTGCCTGG 0.632000 10 33 0 0 1 0 0 TRIM37 4591 broad.mit.edu 37 17 57148277 57148277 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:57148277G>C ENST00000376149.3 - 9 1159 c.350C>G c.(349-351)tCt>tGt p.S117C TRIM37_ENST00000262294.7_Missense_Mutation_p.S239C|TRIM37_ENST00000393065.2_Missense_Mutation_p.S205C|TRIM37_ENST00000393066.3_Missense_Mutation_p.S239C O94972 TRI37_HUMAN tripartite motif containing 37 239 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TGAGCTCTTAGATATCAACTC 0.393000 Mulibrey Nanism 27 50 0 0 1 0 0 CCNB1 891 broad.mit.edu 37 5 68470222 68470222 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr5:68470222G>C ENST00000256442.5 + 5 944 c.691G>C c.(691-693)Gat>Cat p.D231H NM_031966.3 NP_114172.1 P14635 CCNB1_HUMAN cyclin B1 231 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole large_intestine(2)|lung(5)|skin(1) 8 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CTCCATTATTGATCGGTTCAT 0.453000 25 118 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68172185 68172185 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:68172185C>A ENST00000243457.3 + 2 1388 c.1005C>A c.(1003-1005)caC>caA p.H335Q KCNJ2_ENST00000535240.1_Missense_Mutation_p.H335Q NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 335 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) AAGAGAAGCACTACTACAAAG 0.473000 17 79 1.15088e-07 1.2047e-07 1 1 0 OR2M3 127062 broad.mit.edu 37 1 248367151 248367151 + Missense_Mutation SNP G G A rs145845024 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:248367151G>A ENST00000456743.1 + 1 820 c.782G>A c.(781-783)cGg>cAg p.R261Q NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) ATGTACATACGGCCCACATCT 0.502000 75 166 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62221629 62221629 + Missense_Mutation SNP A A G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:62221629A>G ENST00000266068.1 - 9 1884 c.1406T>C c.(1405-1407)tTc>tCc p.F469S GMEB2_ENST00000370077.1_Missense_Mutation_p.F469S|GMEB2_ENST00000370069.1_Missense_Mutation_p.F418S Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 469 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GACCACCTTGAACACCGTGCT 0.667000 10 46 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252742 124252742 + Silent SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:124252742G>C ENST00000375013.2 - 1 516 c.498C>G c.(496-498)ctC>ctG p.L166L NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) TGCAGAAGGTGAGTCTAAGCA 0.512000 6 39 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73921519 73921519 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:73921519C>A ENST00000586717.1 - 12 1108 c.835G>T c.(835-837)Gat>Tat p.D279Y FBF1_ENST00000319129.5_Missense_Mutation_p.D279Y|FBF1_ENST00000389570.4_Missense_Mutation_p.D279Y A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 279 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 CCCCACATATCTTCACTGTCT 0.532000 13 11 2.31682e-05 2.38232e-05 1 1 0 CXorf58 254158 broad.mit.edu 37 X 23957400 23957400 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chrX:23957400C>T ENST00000379211.3 + 9 1528 c.979C>T c.(979-981)Cat>Tat p.H327Y NM_001169574.1|NM_152761.2 NP_001163045.1|NP_689974.2 Q96LI9 CX058_HUMAN chromosome X open reading frame 58 327 breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1) 14 GGATAACTATCATCTCCACTC 0.343000 13 13 0 0 1 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356815 2356815 + RNA SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:2356815G>A ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA GAACTACCTGGACCTCGTCGT 0.537000 67 50 0 0 1 0 0 ABCA4 24 broad.mit.edu 37 1 94574170 94574170 + Missense_Mutation SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:94574170G>T ENST00000370225.3 - 4 491 c.405C>A c.(403-405)ttC>ttA p.F135L ABCA4_ENST00000535735.1_Missense_Mutation_p.F135L NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 135 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) GGGTGTCCATGAATTGGGACA 0.488000 24 44 4.4004e-07 4.58967e-07 1 1 0 EGF 1950 broad.mit.edu 37 4 110883036 110883036 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr4:110883036C>T ENST00000265171.5 + 8 1652 c.1207C>T c.(1207-1209)Cgc>Tgc p.R403C EGF_ENST00000503392.1_Missense_Mutation_p.R403C|EGF_ENST00000509793.1_Missense_Mutation_p.R361C NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 403 EGF-like 3. angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) TTCCTGTCCACGCAATGTGTC 0.403000 7 100 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51225017 51225017 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:51225017C>T ENST00000245441.5 - 18 2921 c.2731G>A c.(2731-2733)Gag>Aag p.E911K NIN_ENST00000324330.9_Missense_Mutation_p.E911K|NIN_ENST00000453196.1_Missense_Mutation_p.E911K|NIN_ENST00000530997.2_Missense_Mutation_p.E911K|NIN_ENST00000389868.3_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.E911K|NIN_ENST00000382043.4_Intron NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 911 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TGCTGTCTCTCGACGACCATG 0.463000 T PDGFRB MPD 31 77 0 0 1 0 0 ZNF225 7768 broad.mit.edu 37 19 44635715 44635715 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:44635715C>G ENST00000262894.6 + 5 1228 c.948C>G c.(946-948)ttC>ttG p.F316L ZNF225_ENST00000590612.1_Missense_Mutation_p.F316L|ZNF225_ENST00000592780.1_3'UTR NM_013362.2 NP_037494.2 Q9UK10 ZN225_HUMAN zinc finger protein 225 316 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) AGAAACCATTCAGATGTGATA 0.423000 47 127 0 0 1 0 0 ATP2B1 490 broad.mit.edu 37 12 90013955 90013955 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:90013955C>T ENST00000428670.3 - 11 2106 c.1650G>A c.(1648-1650)ttG>ttA p.L550L ATP2B1_ENST00000359142.3_Silent_p.L550L|ATP2B1_ENST00000393164.2_Silent_p.L293L|ATP2B1_ENST00000261173.2_Silent_p.L550L|ATP2B1_ENST00000348959.3_Silent_p.L550L P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 550 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 AAAGAAGTCCCAACAAGGCAC 0.378000 12 41 0 0 1 0 0 ANAPC1 64682 broad.mit.edu 37 2 112608394 112608394 + Missense_Mutation SNP T T C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr2:112608394T>C ENST00000341068.3 - 14 2381 c.1609A>G c.(1609-1611)Act>Gct p.T537A NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 537 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm p.T537A(5) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 49 GGCTTTGGAGTACTAACGCCA 0.433000 4 77 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 9009896 9009896 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:9009896G>A ENST00000299698.7 + 24 3165 c.2985G>A c.(2983-2985)acG>acA p.T995T A2ML1_ENST00000539547.1_Silent_p.T504T NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 839 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 GGCTGCTGACGGAGGAGATCA 0.522000 14 69 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61444836 61444836 + Silent SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:61444836C>A ENST00000370461.1 + 5 3990 c.1713C>A c.(1711-1713)ggC>ggA p.G571G OGFR_ENST00000290291.6_Silent_p.G623G Q9NZT2 OGFR_HUMAN opioid growth factor receptor 623 7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK]. regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) AGACCCCAGGCCCCCGCCCGG 0.731000 3 39 0.115264 0.115661 1 1 0 KIAA1199 57214 broad.mit.edu 37 15 81229024 81229024 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:81229024C>G ENST00000394685.3 + 24 3438 c.3019C>G c.(3019-3021)Caa>Gaa p.Q1007E KIAA1199_ENST00000220244.3_Missense_Mutation_p.Q1007E|RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000356249.5_Missense_Mutation_p.Q1007E Q8WUJ3 K1199_HUMAN KIAA1199 1007 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 GATGTACATTCAAGCCTACAA 0.463000 37 84 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54374302 54374302 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr4:54374302G>A ENST00000306888.2 - 2 436 c.185C>T c.(184-186)aCg>aTg p.T62M LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA|LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.T158M|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 158 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) GGAGGGAGCCGTGGCTGTGAG 0.597000 6 18 0 0 1 0 0 ALYREF 10189 broad.mit.edu 37 17 79846175 79846175 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:79846175G>A ENST00000331204.4 - 5 727 c.701C>T c.(700-702)tCa>tTa p.S234L ALYREF_ENST00000505490.2_Missense_Mutation_p.S241L NM_005782.3 NP_005773.3 Q86V81 THOC4_HUMAN Aly/REF export factor 234 intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding CTGCTGCTTTGAATTCCTGCC 0.652000 14 16 0 0 1 0 0 SFMBT2 57713 broad.mit.edu 37 10 7239623 7239623 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:7239623G>A ENST00000361972.4 - 15 1675 c.1585C>T c.(1585-1587)Cct>Tct p.P529S SFMBT2_ENST00000397167.1_Missense_Mutation_p.P529S NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 529 regulation of transcription, DNA-dependent nucleus NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 AAGAGCTGAGGACAGCAGTAT 0.557000 29 48 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129278615 129278615 + Missense_Mutation SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:129278615C>A ENST00000393239.1 - 32 5323 c.5145G>T c.(5143-5145)caG>caT p.Q1715H PLXND1_ENST00000324093.4_Missense_Mutation_p.Q1715H Q9Y4D7 PLXD1_HUMAN plexin D1 1715 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 CCAGAAACTTCTGCAACGTGC 0.607000 36 62 5.8336e-16 6.26413e-16 1 1 0 CENPI 2491 broad.mit.edu 37 X 100402946 100402946 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chrX:100402946C>T ENST00000372927.1 + 19 2167 c.1890C>T c.(1888-1890)ttC>ttT p.F630F CENPI_ENST00000218507.5_Silent_p.F630F|CENPI_ENST00000423383.1_Silent_p.F630F NM_006733.2 NP_006724.2 Q92674 CENPI_HUMAN centromere protein I 630 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2) 30 AATCAGAGTTCAATTTCAGCA 0.353000 13 17 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 11 5 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7278163 7278163 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:7278163G>A ENST00000436587.2 + 3 721 c.498G>A c.(496-498)ttG>ttA p.L166L C1GALT1_ENST00000402468.3_Silent_p.L166L|C1GALT1_ENST00000223122.3_Silent_p.L166L NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 166 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) ATTGGTTTTTGAAAGCAGATG 0.358000 31 47 0 0 1 0 0 NUP98 4928 broad.mit.edu 37 11 3800411 3800411 + Silent SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:3800411G>C ENST00000324932.7 - 3 573 c.153C>G c.(151-153)ctC>ctG p.L51L NUP98_ENST00000359171.4_Silent_p.L51L|NUP98_ENST00000355260.3_Silent_p.L51L|NUP98_ENST00000397007.4_Silent_p.L51L|NUP98_ENST00000397004.4_Silent_p.L51L NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 51 Gly/Thr-rich. carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) AATTTCCAAAGAGGCCTCCAG 0.408000 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 90 82 0 0 1 0 0 GSC2 2928 broad.mit.edu 37 22 19136519 19136519 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:19136519C>T ENST00000086933.2 - 3 602 c.603G>A c.(601-603)ccG>ccA p.P201P NM_005315.1 NP_005306.1 O15499 GSC2_HUMAN goosecoid homeobox 2 201 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 Colorectal(54;0.0993) AGCTCCCCTTCGGGGACTTCT 0.627000 4 8 0 0 1 0 0 MIEF1 54471 broad.mit.edu 37 22 39908024 39908024 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:39908024C>T ENST00000325301.2 + 4 739 c.315C>T c.(313-315)ttC>ttT p.F105F MIEF1_ENST00000404569.1_Silent_p.F105F|MIEF1_ENST00000402881.1_Silent_p.F105F NM_019008.4 NP_061881.2 mitochondrial elongation factor 1 105 CCTCCACCTTCGACACAGGTG 0.592000 15 56 0 0 1 0 0 RGP1 9827 broad.mit.edu 37 9 35749850 35749850 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:35749850C>T ENST00000378078.4 + 2 239 c.98C>T c.(97-99)aCg>aTg p.T33M RGP1_ENST00000456972.2_Missense_Mutation_p.T73M|GBA2_ENST00000545786.1_De_novo_Start_InFrame NM_001080496.2 NP_001073965.2 Q92546 RGP1_HUMAN RGP1 retrograde golgi transport homolog (S. cerevisiae) 33 cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_epithelial(49;0.167) Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CTTCCGCCCACGGCCACTTCT 0.597000 13 44 0 0 1 0 0 ANK2 287 broad.mit.edu 37 4 114284532 114284532 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr4:114284532C>G ENST00000357077.4 + 40 10848 c.10795C>G c.(10795-10797)Cat>Gat p.H3599D ANK2_ENST00000506722.1_Missense_Mutation_p.H1505D|ANK2_ENST00000394537.3_Missense_Mutation_p.H1514D|ANK2_ENST00000264366.6_Missense_Mutation_p.H3566D|ANK2_ENST00000509550.1_Missense_Mutation_p.H690D|ANK2_ENST00000510275.2_Missense_Mutation_p.H166D NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3566 Death. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GGAGCAAATTCATCAAATTCG 0.378000 15 17 0 0 1 0 0 TIGD7 91151 broad.mit.edu 37 16 3349202 3349202 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:3349202C>G ENST00000396862.1 - 2 3241 c.1413G>C c.(1411-1413)caG>caC p.Q471H TIGD7_ENST00000268674.2_Missense_Mutation_p.Q471H NM_033208.3 NP_149985.2 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 471 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 ATTCAGCAGTCTGCTTCTCAG 0.408000 45 114 0 0 1 0 0 LINC00969 440993 broad.mit.edu 37 3 195400728 195400728 + RNA SNP A A G rs12107841 by1000genomes TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:195400728A>G ENST00000445430.1 + 0 1324 GATTGTGCCCAGCCTGTACGC 0.587000 7 28 0 0 1 0 0 DPY19L2P1 554236 broad.mit.edu 37 7 35131548 35131548 + RNA SNP G G A rs144021252 by1000genomes TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:35131548G>A ENST00000436258.1 - 0 1821 TGGCACCTGCGAAGACAGCAT 0.388000 3 64 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71054112 71054112 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:71054112C>G ENST00000393567.2 - 22 3445 c.3295G>C c.(3295-3297)Gag>Cag p.E1099Q HYDIN_ENST00000448089.2_Missense_Mutation_p.E1051Q NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 1099 p.E1051Q(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) TTATCAGTCTCACATATAAAG 0.507000 7 14 0 0 1 0 0 CRYBA4 1413 broad.mit.edu 37 22 27024278 27024278 + Silent SNP C C A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr22:27024278C>A ENST00000354760.3 + 5 362 c.327C>A c.(325-327)atC>atA p.I109I CRYBA4_ENST00000466315.1_3'UTR NM_001886.2 NP_001877.1 P53673 CRBA4_HUMAN crystallin, beta A4 109 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens p.I109I(1) large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2) 18 GGCTGACAATCTTCGAGCAAG 0.562000 20 59 4.35082e-09 4.60395e-09 1 1 0 PLEKHG5 57449 broad.mit.edu 37 1 6533126 6533126 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:6533126C>G ENST00000377748.1 - 10 1632 c.1135G>C c.(1135-1137)Gag>Cag p.E379Q PLEKHG5_ENST00000377740.3_Missense_Mutation_p.E379Q|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.E339Q|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.E302Q|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.E358Q|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.E302Q|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.E302Q|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.E302Q|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.E302Q|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.E381Q|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.E371Q|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.E302Q NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 358 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) TCATCGTACTCCTCCTCCCAG 0.637000 6 35 0 0 1 0 0 TBC1D20 128637 broad.mit.edu 37 20 422261 422261 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:422261C>T ENST00000354200.4 - 5 744 c.597G>A c.(595-597)gtG>gtA p.V199V TBC1D20_ENST00000461188.1_5'UTR NM_144628.2 NP_653229.1 Q96BZ9 TBC20_HUMAN TBC1 domain family, member 20 199 Rab-GAP TBC. interspecies interaction between organisms integral to membrane|intracellular Rab GTPase activator activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 12 all_epithelial(17;0.228)|Breast(17;0.231) GCTCTGGATTCACCTGGTCAA 0.468000 28 110 0 0 1 0 0 ESYT2 57488 broad.mit.edu 37 7 158526939 158526939 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:158526939C>G ENST00000251527.5 - 22 2706 c.2641G>C c.(2641-2643)Gac>Cac p.D881H ESYT2_ENST00000435514.2_Missense_Mutation_p.D316H NM_020728.2 NP_065779.1 A0FGR8 ESYT2_HUMAN extended synaptotagmin-like protein 2 909 C2 3. integral to membrane|plasma membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2) 32 TCCGTGAGGTCATACCTGAGA 0.572000 8 17 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42911874 42911874 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:42911874C>G ENST00000244289.4 - 5 2002 c.1726G>C c.(1726-1728)Gag>Cag p.E576Q LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000597203.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 576 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) AGTGGCATCTCAAAGGCTTCG 0.652000 16 40 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143100929 143100929 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:143100929C>T ENST00000316549.6 - 13 1705 c.1497G>A c.(1495-1497)ctG>ctA p.L499L SLC9A9-AS2_ENST00000490153.1_RNA NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 499 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 GGTCCTCCTTCAGATTTTCAT 0.443000 49 104 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157514817 157514817 + Silent SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:157514817C>G ENST00000361835.3 - 4 520 c.363G>C c.(361-363)ctG>ctC p.L121L FCRL5_ENST00000368189.3_Silent_p.L121L|FCRL5_ENST00000368191.3_Silent_p.L36L|FCRL5_ENST00000368190.3_Silent_p.L121L|FCRL5_ENST00000356953.4_Silent_p.L121L NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 121 integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) CCCGGCACCTCAGAACCACAG 0.413000 35 40 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54666423 54666423 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:54666423G>A ENST00000376591.4 - 10 1634 c.1503C>T c.(1501-1503)ctC>ctT p.L501L TMC4_ENST00000301187.4_Silent_p.L495L|TMC4_ENST00000416963.1_Silent_p.L83L NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 501 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GAAACTGGATGAGCAGCGCGA 0.567000 9 22 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16727871 16727871 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:16727871G>A ENST00000380672.4 - 3 311 c.254C>T c.(253-255)aCg>aTg p.T85M BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Missense_Mutation_p.T85M|BNC2_ENST00000380667.2_Intron NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 85 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AGCCGTAGTCGTTCTGGTTCC 0.453000 22 165 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 241099949 241099949 + Nonsense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:241099949G>C ENST00000366565.1 - 5 665 c.284C>G c.(283-285)tCa>tGa p.S95* RGS7_ENST00000366563.1_Nonsense_Mutation_p.S95*|RGS7_ENST00000366564.1_Nonsense_Mutation_p.S95*|RGS7_ENST00000446183.2_Nonsense_Mutation_p.S11*|RGS7_ENST00000407727.1_Nonsense_Mutation_p.S95*|RGS7_ENST00000331110.7_Nonsense_Mutation_p.S69*|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366562.4_Nonsense_Mutation_p.S95*|RGS7_ENST00000348120.2_Intron NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 95 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GACATGATCTGAGATTGGAAA 0.393000 20 65 0 0 1 0 0 TRNT1 51095 broad.mit.edu 37 3 3186363 3186363 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr3:3186363G>C ENST00000251607.6 + 5 679 c.577G>C c.(577-579)Gag>Cag p.E193Q TRNT1_ENST00000280591.6_Missense_Mutation_p.E193Q NM_182916.2 NP_886552 Q96Q11 TRNT1_HUMAN tRNA nucleotidyl transferase, CCA-adding, 1 193 protein targeting to mitochondrion|tRNA 3'-end processing mitochondrion ATP binding|tRNA adenylyltransferase activity|tRNA binding breast(2)|endometrium(3)|large_intestine(4)|lung(2)|urinary_tract(1) 12 Epithelial(13;0.00226)|OV - Ovarian serous cystadenocarcinoma(96;0.00592)|all cancers(10;0.011) GAGAATACAAGAGGATTATCT 0.264000 25 28 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246811353 246811353 + Nonstop_Mutation SNP G G T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:246811353G>T ENST00000366512.3 + 9 2230 c.1850G>T c.(1849-1851)tGa>tTa p.*617L CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366513.4_Intron NM_001139459.1 NP_001132931.1 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 0 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 AATCAGAGATGAAGTACAATT 0.343000 19 58 2.35188e-11 2.50695e-11 1 1 0 CES2 8824 broad.mit.edu 37 16 66969516 66969516 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:66969516G>A ENST00000317091.4 + 1 1154 c.170G>A c.(169-171)cGa>cAa p.R57Q CES2_ENST00000417689.1_Missense_Mutation_p.R57Q NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 0 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) CGCCGGCAGCGAACCGAGACC 0.677000 38 88 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41169886 41169886 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:41169886C>T ENST00000355653.3 - 4 923 c.828G>A c.(826-828)ctG>ctA p.L276L VAT1_ENST00000587173.1_Silent_p.L208L|VAT1_ENST00000420567.3_Silent_p.L142L NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 276 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) CCATGGGTTTCAGGAGGTTGT 0.537000 24 38 0 0 1 0 0 CELA2A 63036 broad.mit.edu 37 1 15788083 15788083 + Missense_Mutation SNP A A C rs150024502 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:15788083A>C ENST00000359621.4 + 3 182 c.157A>C c.(157-159)Aag>Cag p.K53Q NM_033440.2 NP_254275.1 P08217 CEL2A_HUMAN chymotrypsin-like elastase family, member 2A 53 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1) 16 CTCCAATGGCAAGTGGTACCA 0.597000 26 59 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7962981 7962981 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:7962981C>T ENST00000246024.2 - 8 1182 c.967G>A c.(967-969)Gag>Aag p.E323K NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 323 Glu-rich. cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 CAGGGTTGCTCAGAGATGCCT 0.552000 12 72 0 0 1 0 0 TSN 7247 broad.mit.edu 37 2 122520583 122520583 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr2:122520583G>C ENST00000389682.3 + 5 623 c.376G>C c.(376-378)Gag>Cag p.E126Q TSN_ENST00000409193.1_Missense_Mutation_p.E121Q|TSN_ENST00000536142.1_Intron|TSN_ENST00000498545.1_3'UTR NM_001261401.1|NM_004622.2 NP_001248330.1|NP_004613.1 Q15631 TSN_HUMAN translin 126 DNA recombination cytoplasm|nucleus sequence-specific DNA binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1) 12 Ovarian(717;0.0563)|Prostate(154;0.116) TTTTTTAGTTGAGCCAGATCG 0.363000 8 34 0 0 1 0 0 MTOR 2475 broad.mit.edu 37 1 11187803 11187803 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:11187803C>T ENST00000361445.4 - 44 6170 c.6094G>A c.(6094-6096)Gaa>Aaa p.E2032K MTOR_ENST00000376838.1_Missense_Mutation_p.E237K NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 2032 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GATGCCTCTTCCAGGCCTTCA 0.537000 65 152 0 0 1 0 0 KNOP1 400506 broad.mit.edu 37 16 19725472 19725472 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:19725472C>T ENST00000219837.7 - 2 964 c.886G>A c.(886-888)Gag>Aag p.E296K AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 ACCCCACTCTCTTTCCTCTTC 0.483000 32 158 0 0 1 0 0 C2CD2L 9854 broad.mit.edu 37 11 118983417 118983417 + Missense_Mutation SNP A A G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:118983417A>G ENST00000336702.3 + 10 1579 c.1220A>G c.(1219-1221)tAt>tGt p.Y407C C2CD2L_ENST00000528586.1_Missense_Mutation_p.Y155C NM_014807.3 NP_055622.3 O14523 C2C2L_HUMAN C2CD2-like 407 integral to membrane NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1) 13 CAGCTTCACTATGAGGAGGGC 0.612000 19 17 0 0 1 0 0 NUFIP1 26747 broad.mit.edu 37 13 45523860 45523860 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:45523860C>G ENST00000379161.4 - 8 1181 c.1135G>C c.(1135-1137)Gaa>Caa p.E379Q NM_012345.2 NP_036477.2 Q9UHK0 NUFP1_HUMAN nuclear fragile X mental retardation protein interacting protein 1 379 box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3) 18 Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125) GACTTACCTTCTGGCTCACTC 0.448000 22 42 0 0 1 0 0 KLRAP1 10748 broad.mit.edu 37 12 10749545 10749545 + RNA SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr12:10749545G>A ENST00000510134.2 - 0 315 breast(1)|large_intestine(1)|lung(1) 3 AGGATCCCAAGAGTCACTGCA 0.408000 8 21 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G A rs28934573 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:7577559G>A ENST00000420246.2 - 7 854 c.722C>T c.(721-723)tCc>tTc p.S241F TP53_ENST00000359597.4_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000269305.4_Missense_Mutation_p.S241F|TP53_ENST00000413465.2_Missense_Mutation_p.S241F NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 241 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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) GCCCATGCAGGAACTGTTACA 0.572000 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) 10 17 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113256737 113256737 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:113256737G>C ENST00000297405.5 - 65 10532 c.10288C>G c.(10288-10290)Cat>Gat p.H3430D CSMD3_ENST00000455883.2_Missense_Mutation_p.H3261D|CSMD3_ENST00000343508.3_Missense_Mutation_p.H3390D|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3360D NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3430 Sushi 28. 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 GTATACCCATGAGATGGAAGG 0.423000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 40 41 0 0 1 0 0 XPR1 9213 broad.mit.edu 37 1 180775644 180775644 + Missense_Mutation SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:180775644G>A ENST00000367590.4 + 6 830 c.632G>A c.(631-633)aGa>aAa p.R211K XPR1_ENST00000367589.3_Missense_Mutation_p.R211K NM_004736.3 NP_004727.2 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 1 211 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 35 GATGGTGACAGACAAAAGGCT 0.373000 10 72 0 0 1 0 0 ZNF528 84436 broad.mit.edu 37 19 52919984 52919984 + Missense_Mutation SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:52919984C>T ENST00000360465.3 + 7 2305 c.1879C>T c.(1879-1881)Cat>Tat p.H627Y ZNF528_ENST00000391788.2_3'UTR NM_032423.2 NP_115799.2 Q3MIS6 ZN528_HUMAN zinc finger protein 528 627 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 39 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) TCAGAGAGTTCATTCATGAGA 0.393000 8 36 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23869930 23869930 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:23869930G>A ENST00000405093.3 - 13 1468 c.1398C>T c.(1396-1398)ttC>ttT p.F466F MYH6_ENST00000356287.3_Silent_p.F466F NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 466 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGAAGATCTCGAAGCCAGCGA 0.552000 14 24 0 0 1 0 0 KTN1 3895 broad.mit.edu 37 14 56079156 56079156 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr14:56079156C>G ENST00000416613.1 + 1 462 c.390C>G c.(388-390)atC>atG p.I130M KTN1_ENST00000395311.1_Missense_Mutation_p.I130M|KTN1_ENST00000438792.2_Missense_Mutation_p.I130M|KTN1_ENST00000395308.1_Missense_Mutation_p.I130M|KTN1_ENST00000395309.3_Missense_Mutation_p.I130M|KTN1_ENST00000413890.2_Missense_Mutation_p.I130M|KTN1_ENST00000395314.3_Missense_Mutation_p.I130M Q86UP2 KTN1_HUMAN kinectin 1 (kinesin receptor) 130 microtubule-based movement endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 19 AGCAGGTCATCAAAGAAAGTG 0.438000 T RET papillary thryoid 22 68 0 0 1 0 0 RRM2B 50484 broad.mit.edu 37 8 103238200 103238200 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr8:103238200G>A ENST00000251810.3 - 3 510 c.267C>T c.(265-267)atC>atT p.I89I RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000395912.2_Silent_p.I37I NM_001172478.1|NM_015713.4 NP_001165949.1|NP_056528.2 Q7LG56 RIR2B_HUMAN ribonucleotide reductase M2 B (TP53 inducible) 89 deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion nucleoplasm ribonucleoside-diphosphate reductase activity|transition metal ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 9 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000728) AGATGTGAGAGATGAAGTACT 0.333000 Modulation of nucleotide pools 11 54 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33659476 33659476 + Missense_Mutation SNP C C T rs139781035 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr6:33659476C>T ENST00000374316.5 + 54 8370 c.7310C>T c.(7309-7311)tCg>tTg p.S2437L ITPR3_ENST00000605930.1_Missense_Mutation_p.S2437L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2437 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 TCAGGGCTCTCGGTGCCTGAG 0.627000 32 22 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39453083 39453083 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr13:39453083G>C ENST00000280481.7 + 23 9191 c.8975G>C c.(8974-8976)gGa>gCa p.G2992A NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2992 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) GGATCTGATGGATTTAAAGTC 0.423000 22 68 0 0 1 0 0 TMEM98 26022 broad.mit.edu 37 17 31263409 31263409 + Missense_Mutation SNP G G C TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:31263409G>C ENST00000579849.1 + 6 788 c.357G>C c.(355-357)atG>atC p.M119I TMEM98_ENST00000578289.1_Missense_Mutation_p.M119I|TMEM98_ENST00000394642.3_Missense_Mutation_p.M119I NM_015544.2 NP_056359.2 Q9Y2Y6 TMM98_HUMAN transmembrane protein 98 119 endoplasmic reticulum|integral to membrane kidney(2)|large_intestine(1) 3 Ovarian(249;0.182)|Breast(31;0.244) BRCA - Breast invasive adenocarcinoma(9;0.0769) GGGCCAAGATGAAGACTTCAG 0.567000 26 37 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83810001 83810001 + Silent SNP T T A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:83810001T>A ENST00000398309.2 - 5 869 c.399A>T c.(397-399)atA>atT p.I133I DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000418306.2_Silent_p.I82I|DLG2_ENST00000398301.2_Silent_p.I172I|DLG2_ENST00000376104.2_Silent_p.I238I|DLG2_ENST00000280241.8_Silent_p.I172I|DLG2_ENST00000531015.1_Silent_p.I100I|DLG2_ENST00000330014.6_Silent_p.I72I|DLG2_ENST00000532653.1_Silent_p.I133I|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000524982.1_Silent_p.I133I|DLG2_ENST00000543673.1_Silent_p.I238I NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 133 PDZ 1. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) CACCTCCTGGTATAATCTTCG 0.428000 7 34 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27389579 27389579 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:27389579G>A ENST00000379214.4 - 18 3134 c.2691C>T c.(2689-2691)tcC>tcT p.S897S LGR4_ENST00000389858.4_Silent_p.S873S NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 897 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 TGCCACAGTCGGACCAGTAGC 0.498000 20 52 0 0 1 0 0 PMS2CL 441194 broad.mit.edu 37 7 6777016 6777016 + RNA SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:6777016C>T ENST00000486256.1 + 0 1143 NR_002217.1 AGTGACCCTACGGACAGAGCG 0.582000 13 69 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36217391 36217391 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr9:36217391G>A ENST00000396594.3 - 12 2344 c.2233C>T c.(2233-2235)Ctg>Ttg p.L745L GNE_ENST00000539815.1_Silent_p.L714L|GNE_ENST00000377902.5_Silent_p.L714L|GNE_ENST00000447283.2_Silent_p.L640L|GNE_ENST00000543356.2_Silent_p.L709L|GNE_ENST00000539208.1_Silent_p.L604L NM_001128227.2 NP_001121699.1 Q9Y223 GLCNE_HUMAN glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase 714 cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) GTGTAGTCCAGAACCATGCTG 0.547000 3 28 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19278221 19278221 + Silent SNP G G A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:19278221G>A ENST00000562034.1 + 6 4863 c.1065G>A c.(1063-1065)aaG>aaA p.K355K SYT17_ENST00000355377.2_Silent_p.K416K|SYT17_ENST00000568433.1_Silent_p.K110K|SYT17_ENST00000562711.2_Silent_p.K412K Q9BSW7 SYT17_HUMAN synaptotagmin XVII 416 C2 2. membrane|synaptic vesicle transporter activity NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 17 ACAACATGAAGAGCAGCAATG 0.572000 16 14 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36079615 36079615 + Missense_Mutation SNP T T A TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr21:36079615T>A ENST00000360731.3 + 3 1466 c.1466T>A c.(1465-1467)tTt>tAt p.F489Y CLIC6_ENST00000349499.2_Missense_Mutation_p.F471Y Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 489 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 AATTGCCCGTTTTCTCAGCGT 0.438000 12 47 0 0 1 0 0 RRBP1 6238 broad.mit.edu 37 20 17640924 17640924 + Missense_Mutation SNP C C G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr20:17640924C>G ENST00000377813.1 - 3 532 c.229G>C c.(229-231)Gag>Cag p.E77Q RRBP1_ENST00000246043.4_Missense_Mutation_p.E77Q|RRBP1_ENST00000360807.4_Missense_Mutation_p.E77Q|RRBP1_ENST00000377807.2_Missense_Mutation_p.E77Q|RRBP1_ENST00000455029.2_Intron Q9P2E9 RRBP1_HUMAN ribosome binding protein 1 77 protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 TTAGGTttctcttcctttttc 0.498000 4 16 0 0 1 0 0 U2AF2 11338 broad.mit.edu 37 19 56179916 56179916 + Silent SNP C C T TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:56179916C>T ENST00000450554.2 + 8 1745 c.786C>T c.(784-786)ttC>ttT p.F262F U2AF2_ENST00000590551.1_Silent_p.F98F|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Silent_p.F262F NM_001012478.1|NM_007279.2 NP_001012496.1|NP_009210.1 P26368 U2AF2_HUMAN U2 small nuclear RNA auxiliary factor 2 262 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2) 21 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) ACAAGCTGTTCATCGGGGGCT 0.582000 11 17 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186295316 186295316 + Frame_Shift_Del DEL T T - TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr1:186295316delT ENST00000367478.4 - 41 6237 c.5941delA c.(5941-5943)atgfs p.M1981fs NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) tcatcTCCCATCCCTGTGtca 0.413 T NTRK1 papillary thyroid 13 26 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100268235 100268237 + RNA DEL GAA GAA - TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr4:100268235_100268237delGAA ENST00000515683.1 - 0 536_538 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AAAATCACAGGAAGGGGGGTCAC 0.483 53 46 --- --- --- --- PTCD1 26024 broad.mit.edu 37 7 99017661 99017661 + Frame_Shift_Del DEL G G - TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr7:99017661delG ENST00000292478.4 - 8 2282 c.2032delC c.(2032-2034)cggfs p.R678fs ATP5J2-PTCD1_ENST00000413834.1_Frame_Shift_Del_p.R727fs|PTCD1_ENST00000555673.1_Frame_Shift_Del_p.R727fs NM_015545.3 NP_056360.2 pentatricopeptide repeat domain 1 endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1) 27 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GGCTTGGTCCGGAACTTCTGC 0.612 51 101 --- --- --- --- VSIG2 23584 broad.mit.edu 37 11 124620739 124620740 + Frame_Shift_Ins INS - - G TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr11:124620739_124620740insG ENST00000403470.1 - 3 352_353 c.297_298insC c.(295-300)cccacafs p.T100fs VSIG2_ENST00000326621.5_Frame_Shift_Ins_p.T100fs Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 100 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) ACCCCCACTGTGGGGGGGTTCT 0.540 11 53 --- --- --- --- CHST14 113189 broad.mit.edu 37 15 40763679 40763686 + Frame_Shift_Del DEL GCCTGGGG GCCTGGGG - TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr15:40763679_40763686delGCCTGGGG ENST00000306243.5 + 1 520_527 c.267_274delGCCTGGGG c.(265-276)aagcctgggggcfs p.PGG90fs CHST14_ENST00000559991.1_Frame_Shift_Del_p.PGG90fs NM_130468.3 NP_569735.1 Q8NCH0 CHSTE_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14 90 carbohydrate biosynthetic process|dermatan sulfate proteoglycan metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity|phosphate binding cervix(1)|large_intestine(1)|prostate(2) 4 all_cancers(109;2.34e-14)|all_epithelial(112;1.08e-11)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0781) AAGCCCCCAAGCCTGGGGGCCTGTCCCT 0.726 4 9 --- --- --- --- ITGAL 3683 broad.mit.edu 37 16 30531249 30531251 + In_Frame_Del DEL GCT GCT - TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr16:30531249_30531251delGCT ENST00000356798.6 + 30 3480_3482 c.3300_3302delGCT c.(3298-3303)gggctg>ggg p.L1106del ITGAL_ENST00000433423.2_In_Frame_Del_p.L340del|ITGAL_ENST00000358164.5_In_Frame_Del_p.L1022del NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1106 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) GCATCGGGGGGCTGCTGCTGCTG 0.601 7 205 --- --- --- --- MED13 9969 broad.mit.edu 37 17 60033782 60033783 + In_Frame_Ins INS - - CAC TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr17:60033782_60033783insCAC ENST00000397786.2 - 24 5616_5617 c.5540_5541insGTG c.(5539-5541)tgc>tgGTGc p.1846_1847insW NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1846 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CAAGTCCTAAGCACCACTCCCA 0.366 15 131 --- --- --- --- CYP4F8 11283 broad.mit.edu 37 19 15730745 15730747 + RNA DEL TAA TAA - rs140849245 TCGA-ZF-A9R0-01A-11D-A38G-08 TCGA-ZF-A9R0-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 51ebb569-a35e-4f72-8bcd-000d05ca9603 2e7d1891-7bf8-4459-979f-9ffa36579f3c g.chr19:15730745_15730747delTAA ENST00000441682.2 + 0 586 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 8 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1) 26 taggagcatgtaatggactcatg 0.468 3 3 --- --- --- ---