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 SFMBT2 57713 broad.mit.edu 37 10 7262417 7262417 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:7262417G>A ENST00000361972.4 - 11 1376 c.1286C>T c.(1285-1287)tCc>tTc p.S429F SFMBT2_ENST00000397167.1_Missense_Mutation_p.S429F NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 429 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 ACTCACAACGGAGGCCACACA 0.517000 40 155 0 0 1 0 0 GPX6 257202 broad.mit.edu 37 6 28472193 28472193 + Nonsense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:28472193C>T ENST00000361902.1 - 5 591 c.542G>A c.(541-543)tGg>tAg p.W181* GPX6_ENST00000474923.1_Missense_Mutation_p.G148R NM_182701.1 NP_874360.1 P59796 GPX6_HUMAN glutathione peroxidase 6 (olfactory) 181 response to oxidative stress extracellular region glutathione peroxidase activity NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Glutathione(DB00143) CTCAAAGTTCCAGCGGATATC 0.527000 3 41 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683191 6683191 + Missense_Mutation SNP G G A rs143419082 TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:6683191G>A ENST00000321535.4 + 2 134 c.4G>A c.(4-6)Gac>Aac p.D2N NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 2 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 TTCCTGGATGGACGAAGAAAG 0.507000 3 47 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32560521 32560521 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:32560521G>A ENST00000319778.6 - 13 2632 c.2330C>T c.(2329-2331)tCc>tTc p.S777F EPC1_ENST00000263062.8_Missense_Mutation_p.S800F|EPC1_ENST00000375110.2_Missense_Mutation_p.S727F NM_001272004.1|NM_001272019.1 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 800 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) TGGGACCTTGGAAACTTGACA 0.433000 21 92 0 0 1 0 0 ZNF583 147949 broad.mit.edu 37 19 56934293 56934293 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:56934293C>T ENST00000333201.9 + 5 476 c.266C>T c.(265-267)tCa>tTa p.S89L ZNF583_ENST00000291598.7_Missense_Mutation_p.S89L NM_001159861.1|NM_152478.2 NP_001153333.1|NP_689691.2 Q96ND8 ZN583_HUMAN zinc finger protein 583 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0564) AGTGAATTTTCATCAAAGCAA 0.313000 4 31 0 0 1 0 0 BRD7 29117 broad.mit.edu 37 16 50373952 50373952 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:50373952G>A ENST00000394688.3 - 6 796 c.637C>T c.(637-639)Cca>Tca p.P213S BRD7_ENST00000394689.2_Missense_Mutation_p.P213S Q9NPI1 BRD7_HUMAN bromodomain containing 7 213 Bromo. cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleus histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2) 22 all_cancers(37;0.0127) ATGGTCTCTGGTTTATTGTAA 0.333000 8 62 0 0 1 0 0 COBLL1 22837 broad.mit.edu 37 2 165584552 165584552 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:165584552C>T ENST00000375458.2 - 4 809 c.588G>A c.(586-588)caG>caA p.Q196Q COBLL1_ENST00000194871.6_Silent_p.Q249Q|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Silent_p.Q196Q|COBLL1_ENST00000392717.2_Silent_p.Q234Q|COBLL1_ENST00000409184.3_Silent_p.Q234Q NM_001278460.1|NM_001278461.1 NP_001265389.1|NP_001265390.1 Q53SF7 COBL1_HUMAN cordon-bleu WH2 repeat protein-like 1 234 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 CAAGAGGCTCCTGCGATTGAT 0.373000 9 62 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75843624 75843624 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:75843624G>A ENST00000322507.8 - 33 5923 c.5614C>T c.(5614-5616)Cgt>Tgt p.R1872C COL12A1_ENST00000345356.6_Missense_Mutation_p.R708C|COL12A1_ENST00000483888.2_Missense_Mutation_p.R1872C|COL12A1_ENST00000416123.2_Missense_Mutation_p.R1872C NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1872 Fibronectin type-III 14. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 TTGTACTGACGAGGATTTCCC 0.448000 4 61 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737548 13737548 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:13737548C>T ENST00000265104.4 - 66 11372 c.11268G>A c.(11266-11268)agG>agA p.R3756R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3756 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GTTCCTTCATCCTTCTTTTGT 0.373000 Kartagener syndrome 6 48 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813502 106813502 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:106813502G>A ENST00000407775.2 + 8 1442 c.1192G>A c.(1192-1194)Gaa>Aaa p.E398K RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E266K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E266K|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E129K NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 398 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AAGTGACATGGAACACTCTCC 0.502000 13 65 0 0 1 0 0 ACAD10 80724 broad.mit.edu 37 12 112194136 112194136 + Splice_Site SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:112194136G>A ENST00000455480.2 + 22 3309 c.e22-1 ACAD10_ENST00000313698.4_Splice_Site|RP11-162P23.2_ENST00000546840.2_Intron NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 GTGTCTGCCAGGCCTTTGGAG 0.632000 3 18 0 0 1 0 0 GPR139 124274 broad.mit.edu 37 16 20043605 20043605 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:20043605C>T ENST00000570682.1 - 2 814 c.514G>A c.(514-516)Gaa>Aaa p.E172K NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 172 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 ATGTAGTCTTCAGTCCAGATG 0.517000 7 28 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4902842 4902842 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:4902842G>A ENST00000381781.2 - 1 37 c.38C>T c.(37-39)cCc>cTc p.P13L NM_001080523.1 NP_001073992.1 A6NEK1 ARRD5_HUMAN arrestin domain containing 5 13 signal transduction endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) AGACATGGGGGGTTGGGGGGT 0.527000 17 38 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691266 153691266 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:153691266C>T ENST00000304337.2 - 2 1711 c.891G>A c.(889-891)aaG>aaA p.K297K NM_145720.3 NP_663772.1 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 297 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) ATTTTAGGTTCTTTACCTCTG 0.353000 25 100 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140255196 140255196 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:140255196C>T ENST00000398631.2 + 1 139 c.139C>T c.(139-141)Cgc>Tgc p.R47C PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCGTGGGCCGCATCGCTCA 0.652000 15 67 0 0 1 0 0 TOM1L2 146691 broad.mit.edu 37 17 17766051 17766051 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:17766051C>T ENST00000581396.1 - 10 1142 c.1046G>A c.(1045-1047)cGc>cAc p.R349H TOM1L2_ENST00000542206.1_Missense_Mutation_p.R251H|TOM1L2_ENST00000540946.1_Missense_Mutation_p.R301H|TOM1L2_ENST00000535933.1_Missense_Mutation_p.R346H|TOM1L2_ENST00000395739.4_Missense_Mutation_p.R354H|TOM1L2_ENST00000379504.3_Missense_Mutation_p.R399H|TOM1L2_ENST00000318094.10_Missense_Mutation_p.R354H|TOM1L2_ENST00000478943.1_Missense_Mutation_p.R132H NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 399 intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) ATACGTCTTGCGCTGCTCAGC 0.527000 4 198 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 22 0 0 1 0 0 TACC3 10460 broad.mit.edu 37 4 1730378 1730378 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:1730378C>T ENST00000313288.4 + 4 1355 c.1249C>T c.(1249-1251)Ccg>Tcg p.P417S NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 417 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) AAACTTCATCCCGTTCGGAGG 0.622000 13 48 0 0 1 0 0 TSSK6 83983 broad.mit.edu 37 19 19626088 19626088 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:19626088G>A ENST00000360913.3 - 1 750 c.149C>T c.(148-150)cCg>cTg p.P50L TSSK6_ENST00000585580.3_Missense_Mutation_p.P50L Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 50 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 GACGAAGTCCGGGGGCGCTCG 0.612000 9 32 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18691963 18691963 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:18691963G>A ENST00000251296.1 + 6 1170 c.787G>A c.(787-789)Gag>Aag p.E263K NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 263 extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GCCAACCACAGAGAACATACC 0.672000 27 116 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325379 31325379 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr18:31325379G>A ENST00000269197.5 + 12 5567 c.5567G>A c.(5566-5568)gGg>gAg p.G1856E NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1856 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GATGTTAAAGGGGTGCCTTGT 0.458000 11 175 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141722068 141722068 + Splice_Site SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:141722068G>A ENST00000475668.2 + 7 765 c.710_splice c.e7-1 p.L237_splice MGAM_ENST00000549489.2_Splice_Site_p.L237_splice O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 237 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGTGTCTAGGTTTGACTCGA 0.517000 7 45 0 0 1 0 0 EIF2B5 8893 broad.mit.edu 37 3 183855532 183855532 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:183855532C>T ENST00000273783.3 + 3 567 c.445C>T c.(445-447)Ctt>Ttt p.L149F EIF2B5_ENST00000444495.1_Missense_Mutation_p.L149F|EIF2B5_ENST00000498831.1_3'UTR NM_003907.2 NP_003898.2 Q13144 EI2BE_HUMAN eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa 149 astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process cytosol|eukaryotic translation initiation factor 2B complex|nucleus guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1) 27 all_cancers(143;7.59e-11)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CTCTGACTTTCTTCTGGTGTA 0.463000 7 24 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509799 106509799 + Nonsense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:106509799G>A ENST00000359195.3 + 2 2103 c.1793G>A c.(1792-1794)tGg>tAg p.W598* PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.W598*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.W598* NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 598 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TCAGTGAAATGGGGACAGCAA 0.438000 14 82 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31152904 31152904 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:31152904G>A ENST00000268281.4 - 12 1845 c.1787C>T c.(1786-1788)cCa>cTa p.P596L PRSS36_ENST00000569305.1_Missense_Mutation_p.P591L|PRSS36_ENST00000418068.2_Missense_Mutation_p.P596L NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 596 Peptidase S1 3. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GACCCCCACTGGAGCAGCCTC 0.682000 4 51 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80782973 80782973 + Missense_Mutation SNP T T C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:80782973T>C ENST00000466387.1 + 16 2420 c.1696T>C c.(1696-1698)Tat>Cat p.Y566H CTNNA2_ENST00000402739.4_Missense_Mutation_p.Y566H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Y566H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Y600H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.Y566H|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Y245H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Y566H P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 566 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AGCTGGGGTTTATACTGAGAA 0.473000 14 87 0 0 1 0 0 GSG2 83903 broad.mit.edu 37 17 3629315 3629315 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:3629315G>A ENST00000325418.4 + 1 2105 c.2086G>A c.(2086-2088)Gat>Aat p.D696N ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron NM_031965.2 NP_114171.2 Q8TF76 HASP_HUMAN germ cell associated 2 (haspin) 696 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity CTTGGAACGGGATGGGATTGT 0.502000 8 57 0 0 1 0 0 TDRD3 81550 broad.mit.edu 37 13 61102941 61102941 + Missense_Mutation SNP T T C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:61102941T>C ENST00000196169.3 + 11 2091 c.1303T>C c.(1303-1305)Tat>Cat p.Y435H TDRD3_ENST00000535286.1_Missense_Mutation_p.Y528H|TDRD3_ENST00000377894.2_Missense_Mutation_p.Y435H|TDRD3_ENST00000377881.2_Missense_Mutation_p.Y435H NM_001146071.1|NM_030794.2 NP_001139543.1|NP_110421.1 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 435 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 40 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) ATCTGTAGATTATAATAATCA 0.338000 11 27 0 0 1 0 0 RASA3 22821 broad.mit.edu 37 13 114817546 114817546 + Silent SNP G G A rs34594581 TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:114817546G>A ENST00000334062.7 - 3 379 c.258C>T c.(256-258)ttC>ttT p.F86F RASA3_ENST00000542651.1_Silent_p.F86F|RASA3_ENST00000389544.4_Silent_p.F54F NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 86 C2 1. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AATCCCTCCGGAAAACGTCTC 0.453000 5 30 0 0 1 0 0 ROCK2 9475 broad.mit.edu 37 2 11337309 11337309 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:11337309G>A ENST00000315872.6 - 27 3893 c.3445C>T c.(3445-3447)Cca>Tca p.P1149S ROCK2_ENST00000401753.1_Missense_Mutation_p.P906S NM_004850.3 NP_004841.2 O75116 ROCK2_HUMAN Rho-associated, coiled-coil containing protein kinase 2 1149 axon guidance|cytokinesis|intracellular signal transduction cytosol|plasma membrane ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2) 43 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162) TCCATACCTGGAAACCCATCA 0.418000 11 48 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100678524 100678524 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:100678524G>A ENST00000306151.4 + 3 3891 c.3827G>A c.(3826-3828)gGa>gAa p.G1276E NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 1276 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACTAGTGAAGGAAGTACTCTA 0.502000 53 270 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15652223 15652223 + Missense_Mutation SNP A A C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:15652223A>C ENST00000262041.5 - 3 1113 c.704T>G c.(703-705)tTc>tGc p.F235C NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 235 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CCTGTTTTGGAACCAGACTTT 0.418000 9 66 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142626216 142626216 + Splice_Site SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:142626216C>T ENST00000265310.1 - 5 836 c.e5-1 TRPV5_ENST00000442623.1_Splice_Site NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GGGTGCTCCCCTGTGGACACA 0.597000 4 17 0 0 1 0 0 CARM1 10498 broad.mit.edu 37 19 11022906 11022906 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:11022906C>T ENST00000327064.4 + 5 795 c.605C>T c.(604-606)gCc>gTc p.A202V CARM1_ENST00000344150.4_Missense_Mutation_p.A202V NM_199141.1 NP_954592.1 Q86X55 CARM1_HUMAN coactivator-associated arginine methyltransferase 1 202 cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleoplasm beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding p.A202V(2) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 13 TCGTTTTTTGCCGCCCAAGCT 0.622000 5 267 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51263088 51263088 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:51263088C>T ENST00000266037.9 + 15 1284 c.1261C>T c.(1261-1263)Cgc>Tgc p.R421C NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 421 DHR-1. 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) AGGTGATATCCGCAATGACCT 0.463000 20 57 0 0 1 0 0 KCNK16 83795 broad.mit.edu 37 6 39282993 39282993 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:39282993G>A ENST00000425054.2 - 5 875 c.876C>T c.(874-876)ctC>ctT p.L292L KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron|KCNK16_ENST00000373229.5_Intron NM_001135105.1 NP_001128577.1 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 0 integral to membrane potassium channel activity|voltage-gated ion channel activity large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2) 13 CCCCGGGATGGAGTGGTCTAA 0.567000 3 14 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192225446 192225446 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:192225446G>A ENST00000392318.3 + 8 899 c.652G>A c.(652-654)Gag>Aag p.E218K MYO1B_ENST00000304164.4_Missense_Mutation_p.E218K|MYO1B_ENST00000339514.4_Missense_Mutation_p.E218K|MYO1B_ENST00000392316.1_Missense_Mutation_p.E218K NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 218 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) TGCCTCTGAAGAGCTCCTCAG 0.448000 6 90 0 0 1 0 0 C9orf117 286207 broad.mit.edu 37 9 130473571 130473571 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:130473571G>A ENST00000373295.2 + 4 691 c.651G>A c.(649-651)acG>acA p.T217T NM_001012502.2 NP_001012520.2 Q5JU67 CI117_HUMAN chromosome 9 open reading frame 117 217 breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1) 6 AGGTGACCACGAACCGGATGT 0.577000 4 23 0 0 1 0 0 MAPK8 5599 broad.mit.edu 37 10 49628257 49628257 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:49628257C>T ENST00000374189.1 + 6 691 c.510C>T c.(508-510)ttC>ttT p.F170F MAPK8_ENST00000360332.3_Silent_p.F170F|MAPK8_ENST00000374182.3_Silent_p.F170F|MAPK8_ENST00000374174.1_Silent_p.F170F|MAPK8_ENST00000395611.3_Silent_p.F170F P45983 MK08_HUMAN mitogen-activated protein kinase 8 170 Protein kinase. activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 34 Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116) Epithelial(53;3.46e-65)|Lung(62;0.125) TTCTTGACTTCGGTCTGGCCA 0.413000 7 60 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34192733 34192733 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:34192733G>A ENST00000297161.2 + 16 2280 c.1906G>A c.(1906-1908)Gat>Aat p.D636N BMPER_ENST00000426693.1_Missense_Mutation_p.D636N NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 636 TIL. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TGCTGTGTACGATACCTGTGG 0.507000 20 124 0 0 1 0 0 IDO2 169355 broad.mit.edu 37 8 39873121 39873121 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:39873121G>A ENST00000502986.2 + 11 1505 c.1263G>A c.(1261-1263)taG>taA p.*421* IDO2_ENST00000389060.4_Silent_p.*408*|IDO2_ENST00000343295.4_3'UTR NM_194294.2 NP_919270.2 Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 0 tryptophan catabolic process to kynurenine cytosol heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1) 18 CACGTGGTTAGGAGGCTGCCC 0.557000 8 41 0 0 1 0 0 OR1N1 138883 broad.mit.edu 37 9 125288801 125288801 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:125288801G>A ENST00000304880.2 - 1 771 c.772C>T c.(772-774)Ctg>Ttg p.L258L NM_012363.1 NP_036495.1 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, member 1 258 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GGAGGACACAGGTAGGCACTG 0.537000 9 26 0 0 1 0 0 ST6GALNAC4 27090 broad.mit.edu 37 9 130677018 130677018 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:130677018C>T ENST00000335791.5 - 3 390 c.115G>A c.(115-117)Gac>Aac p.D39N ST6GALNAC4_ENST00000495983.1_5'UTR|ST6GALNAC4_ENST00000343609.2_5'UTR NM_175039.3 NP_778204.1 Q9H4F1 SIA7D_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 39 glycolipid metabolic process|protein glycosylation integral to Golgi membrane|nucleus|soluble fraction (alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity endometrium(1)|large_intestine(2)|lung(2)|prostate(2) 7 AAGTGGTGGTCCAGGCAGGTG 0.642000 7 12 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55540842 55540842 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:55540842C>T ENST00000220676.1 + 4 4548 c.4400C>T c.(4399-4401)tCt>tTt p.S1467F NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1467 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAATTGGAATCTTTTGAAGAA 0.378000 8 21 0 0 1 0 0 MYOM2 9172 broad.mit.edu 37 8 2054075 2054075 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:2054075C>T ENST00000262113.4 + 22 2919 c.2778C>T c.(2776-2778)atC>atT p.I926I MYOM2_ENST00000523438.1_Silent_p.I351I NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 926 Ig-like C2-type 3. muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) AAGGCAACATCTATCTGGGCT 0.473000 10 48 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31323203 31323203 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr18:31323203C>T ENST00000269197.5 + 12 3391 c.3391C>T c.(3391-3393)Cct>Tct p.P1131S NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CCGGTTGCCTCCTCCGCTCAG 0.478000 4 20 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99306869 99306869 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:99306869C>T ENST00000336374.2 - 11 1044 c.1042G>A c.(1042-1044)Gat>Aat p.D348N NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 348 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) AGCACAGTATCATAGGTGGGT 0.378000 10 32 0 0 1 0 0 SYT17 51760 broad.mit.edu 37 16 19236121 19236121 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:19236121C>T ENST00000562034.1 + 5 4804 c.1006C>T c.(1006-1008)Ccc>Tcc p.P336S SYT17_ENST00000562711.2_Missense_Mutation_p.P393S|SYT17_ENST00000355377.2_Missense_Mutation_p.P397S|SYT17_ENST00000568433.1_Missense_Mutation_p.P91S|SYT17_ENST00000568115.1_Missense_Mutation_p.P336S Q9BSW7 SYT17_HUMAN synaptotagmin XVII 397 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 CTTCAAAGTTCCCCAAGAAGA 0.458000 10 47 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15323568 15323568 + RNA SNP T T C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr21:15323568T>C ENST00000344693.5 - 0 834 NR_027270.1 AGGAAGGATGTTTTGCAGGAG 0.318000 16 104 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685448 125685448 + Missense_Mutation SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:125685448A>G ENST00000371126.1 - 1 1386 c.1144T>C c.(1144-1146)Ttc>Ctc p.F382L NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 382 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 TCCTCCAGGAATTTCTGGGCC 0.622000 3 49 0 0 1 0 0 N4BP1 9683 broad.mit.edu 37 16 48580158 48580158 + Missense_Mutation SNP G G C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:48580158G>C ENST00000262384.3 - 6 2469 c.2233C>G c.(2233-2235)Cag>Gag p.Q745E N4BP1_ENST00000565423.1_Intron NM_153029.3 NP_694574.3 O75113 N4BP1_HUMAN NEDD4 binding protein 1 745 negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination nucleolus|PML body breast(3)|kidney(2)|lung(11)|urinary_tract(1) 17 all_cancers(37;0.179)|all_lung(18;0.11) AACGTGTACTGCAGCAGCCTA 0.527000 5 48 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103040432 103040432 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:103040432G>A ENST00000264260.2 + 4 821 c.232G>A c.(232-234)Gac>Aac p.D78N IL18RAP_ENST00000409369.1_Intron NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 78 cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 GGGTAGTAACGACCTATCTGA 0.438000 7 24 0 0 1 0 0 KRTAP24-1 643803 broad.mit.edu 37 21 31655039 31655039 + Missense_Mutation SNP C C A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr21:31655039C>A ENST00000340345.4 - 1 237 c.212G>T c.(211-213)tGc>tTc p.C71F NM_001085455.1 NP_001078924.1 Q3LI83 KR241_HUMAN keratin associated protein 24-1 71 keratin filament structural molecule activity breast(1)|large_intestine(3)|lung(7)|urinary_tract(3) 14 GGGAGATTTGCAGGTTGGTGC 0.532000 12 40 9.31168e-06 9.4589e-06 1 1 0 SKIV2L 6499 broad.mit.edu 37 6 31927100 31927100 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:31927100C>T ENST00000375394.2 + 2 162 c.49C>T c.(49-51)Cta>Tta p.L17L SKIV2L_ENST00000488648.1_3'UTR|SKIV2L_ENST00000544581.1_5'UTR NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 17 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 TCCCCTGGACCTACCCCTTCG 0.582000 69 318 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508119 37508119 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:37508119G>A ENST00000374660.1 + 40 3767 c.3668G>A c.(3667-3669)aGg>aAg p.R1223K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.R1104K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.R1104K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1170 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TTAACTAAAAGGGCATCTCAA 0.333000 29 112 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584164 179584164 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:179584164G>A ENST00000589042.1 - 83 24177 c.23953C>T c.(23953-23955)Cct>Tct p.P7985S TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P6741S|TTN_ENST00000591111.1_Missense_Mutation_p.P7668S|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7668 Ig-like 62. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATGAAGGAAGGAGGCACAATC 0.488000 9 67 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8218844 8218844 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:8218844C>T ENST00000539824.1 + 7 935 c.561C>T c.(559-561)tcC>tcT p.S187S SH3TC1_ENST00000245105.3_Silent_p.S263S Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 263 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 GCGTGTCCTCCGAGGAGGTGG 0.662000 4 21 0 0 1 0 0 BBS9 27241 broad.mit.edu 37 7 33312736 33312736 + Missense_Mutation SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:33312736A>G ENST00000242067.6 + 8 1336 c.815A>G c.(814-816)aAg>aGg p.K272R BBS9_ENST00000350941.3_Missense_Mutation_p.K272R|BBS9_ENST00000354265.4_Missense_Mutation_p.K272R|BBS9_ENST00000355070.2_Missense_Mutation_p.K272R|BBS9_ENST00000396127.2_Missense_Mutation_p.K272R|BBS9_ENST00000425508.2_Missense_Mutation_p.K227R NM_198428.2 NP_940820.1 Q3SYG4 PTHB1_HUMAN Bardet-Biedl syndrome 9 272 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding BBS9/PKD1L1(2) NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(11;0.0894) TTTTGCCTTAAGGATAATGGA 0.373000 Bardet-Biedl syndrome 13 118 0 0 1 0 0 ARPC2 10109 broad.mit.edu 37 2 219110154 219110154 + Silent SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:219110154A>G ENST00000295685.10 + 7 822 c.561A>G c.(559-561)gaA>gaG p.E187E ARPC2_ENST00000477992.1_3'UTR|ARPC2_ENST00000315717.5_Silent_p.E187E NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 187 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) AGTTCAAAGAAGGACGCAGAG 0.517000 9 61 0 0 1 0 0 C21orf33 8209 broad.mit.edu 37 21 45563173 45563173 + Missense_Mutation SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr21:45563173A>G ENST00000291577.6 + 6 701 c.608A>G c.(607-609)aAg>aGg p.K203R C21orf33_ENST00000348499.5_Missense_Mutation_p.K172R NM_004649.6 NP_004640.3 P30042 ES1_HUMAN chromosome 21 open reading frame 33 203 mitochondrion NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191) GAAGGTGGCAAGTGGCCTTAT 0.627000 6 29 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103293071 103293071 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:103293071G>A ENST00000428762.1 - 14 1849 c.1690C>T c.(1690-1692)Ctc>Ttc p.L564F RELN_ENST00000424685.2_Missense_Mutation_p.L564F|RELN_ENST00000343529.5_Missense_Mutation_p.L564F NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 564 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) GTAGAAGGGAGAACAGGCAAG 0.438000 21 62 0 0 1 0 0 PRSS22 64063 broad.mit.edu 37 16 2905646 2905646 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:2905646G>A ENST00000161006.3 - 4 553 c.488C>T c.(487-489)cCt>cTt p.P163L PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Intron NM_022119.3 NP_071402.1 Q9GZN4 BSSP4_HUMAN protease, serine, 22 163 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2) 10 AGAGGCATCAGGTAGGCAGAT 0.587000 7 58 0 0 1 0 0 OSBPL8 114882 broad.mit.edu 37 12 76749711 76749711 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:76749711G>A ENST00000261183.3 - 24 3107 c.2628C>T c.(2626-2628)ctC>ctT p.L876L OSBPL8_ENST00000393249.2_Silent_p.L834L|OSBPL8_ENST00000393250.4_Silent_p.L834L NM_020841.4 NP_065892.1 Q9BZF1 OSBL8_HUMAN oxysterol binding protein-like 8 876 lipid transport lipid binding breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2) 28 GCAAAATCAGGAGGAAAATGA 0.358000 6 31 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88702692 88702692 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:88702692C>T ENST00000372027.4 - 6 1922 c.1849G>A c.(1849-1851)Gag>Aag p.E617K NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 617 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 TCCAGCACCTCCTCCCCGAAG 0.731000 4 10 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194063399 194063399 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:194063399G>A ENST00000323830.3 - 2 122 c.33C>T c.(31-33)tcC>tcT p.S11S CPN2_ENST00000429275.1_Silent_p.S11S NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 11 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GGAGCAGGAGGGAGGTCCAGA 0.587000 7 23 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56161183 56161183 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:56161183G>A ENST00000399503.3 + 5 1052 c.1052G>A c.(1051-1053)cGt>cAt p.R351H NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 351 R -> H (in Ref. 2; AAC97073). cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) AGCTGTGCACGTGGAACATTC 0.348000 6 46 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 31039382 31039382 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:31039382G>A ENST00000355537.3 + 4 3003 c.2856G>A c.(2854-2856)gtG>gtA p.V952V NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 952 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) TCCACGGAGTGGATGGTGGTG 0.537000 32 129 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13523065 13523065 + Silent SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:13523065A>G ENST00000341083.3 - 6 1037 c.741T>C c.(739-741)tcT>tcC p.S247S BEND7_ENST00000396900.2_Silent_p.S299S|BEND7_ENST00000396898.2_Silent_p.S312S|BEND7_ENST00000378605.3_Silent_p.S260S NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 299 protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TTGACAATATAGAGTCCAGCT 0.403000 3 70 0 0 1 0 0 TCF4 6925 broad.mit.edu 37 18 52901848 52901848 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr18:52901848G>A ENST00000354452.3 - 16 2028 c.1417C>T c.(1417-1419)Ccg>Tcg p.P473S TCF4_ENST00000564228.1_Missense_Mutation_p.P402S|TCF4_ENST00000561992.1_Missense_Mutation_p.P343S|TCF4_ENST00000537856.3_Missense_Mutation_p.P343S|TCF4_ENST00000564999.1_Missense_Mutation_p.P473S|TCF4_ENST00000356073.4_Missense_Mutation_p.P473S|TCF4_ENST00000566279.1_Missense_Mutation_p.P413S|TCF4_ENST00000544241.2_Missense_Mutation_p.P402S|TCF4_ENST00000457482.3_Missense_Mutation_p.P313S|TCF4_ENST00000540999.1_Missense_Mutation_p.P449S|TCF4_ENST00000568673.1_Missense_Mutation_p.P449S|TCF4_ENST00000567880.1_Missense_Mutation_p.P413S|TCF4_ENST00000543082.1_Missense_Mutation_p.P431S|TCF4_ENST00000568740.1_Missense_Mutation_p.P448S|TCF4_ENST00000570287.2_Missense_Mutation_p.P313S|TCF4_ENST00000398339.1_Missense_Mutation_p.P575S|TCF4_ENST00000566286.1_Missense_Mutation_p.P470S|TCF4_ENST00000565018.2_Missense_Mutation_p.P473S|TCF4_ENST00000564403.2_Missense_Mutation_p.P479S|TCF4_ENST00000570177.2_Missense_Mutation_p.P343S|TCF4_ENST00000561831.3_Missense_Mutation_p.P313S|TCF4_ENST00000537578.1_Missense_Mutation_p.P449S NM_001083962.1 NP_001077431.1 P15884 ITF2_HUMAN transcription factor 4 473 positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter transcription factor complex E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 41 Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718) TGTGGAACCGGAACCTGGTTT 0.602000 OREG0024990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 65 0 0 1 0 0 SLC6A20 54716 broad.mit.edu 37 3 45821516 45821516 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:45821516G>A ENST00000358525.4 - 3 454 c.339C>T c.(337-339)ctC>ctT p.L113L SLC6A20_ENST00000353278.4_Silent_p.L113L|SLC6A20_ENST00000456124.2_Silent_p.L113L NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 113 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) AGGAGTGGAAGAGGTACCAGA 0.627000 3 3 0 0 1 0 0 FUS 2521 broad.mit.edu 37 16 31200457 31200457 + Silent SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:31200457A>G ENST00000254108.7 + 9 951 c.846A>G c.(844-846)tcA>tcG p.S282S FUS_ENST00000380244.3_Silent_p.S281S|FUS_ENST00000568685.1_Silent_p.S283S|FUS_ENST00000474990.1_3'UTR NM_001170634.1|NM_001170937.1|NM_004960.3 NP_001164105.1|NP_001164408.1|NP_004951.1 P35637 FUS_HUMAN fused in sarcoma 282 cell death|nuclear mRNA splicing, via spliceosome nucleoplasm DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158) breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1) 22 Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121) GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209) AGGATAATTCAGACAACAACA 0.378000 T """DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1""" """liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma""" 8 104 0 0 1 0 0 USP38 84640 broad.mit.edu 37 4 144124642 144124642 + Missense_Mutation SNP A A C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:144124642A>C ENST00000307017.4 + 5 1638 c.1132A>C c.(1132-1134)Aca>Cca p.T378P USP38_ENST00000510377.1_Missense_Mutation_p.T378P NM_032557.5 NP_115946.2 Q8NB14 UBP38_HUMAN ubiquitin specific peptidase 38 378 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 33 all_hematologic(180;0.158) AGTACAATTAACAGAATTGAT 0.333000 24 47 0 0 1 0 0 C10orf53 282966 broad.mit.edu 37 10 50901947 50901947 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:50901947C>T ENST00000374113.3 + 2 272 c.225C>T c.(223-225)ccC>ccT p.P75P C10orf53_ENST00000374111.3_Intron|C10orf53_ENST00000535836.1_Intron|C10orf53_ENST00000374112.3_Intron Q8N6V4 CJ053_HUMAN chromosome 10 open reading frame 53 0 endometrium(1)|lung(6) 7 all_neural(218;0.107) TCGGTAAGCCCTTTGGCGATG 0.448000 8 44 0 0 1 0 0 SSRP1 6749 broad.mit.edu 37 11 57094314 57094314 + Missense_Mutation SNP A A T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:57094314A>T ENST00000278412.2 - 16 2187 c.1921T>A c.(1921-1923)Tcc>Acc p.S641T RP11-872D17.4_ENST00000534162.1_RNA NM_003146.2 NP_003137.1 Q08945 SSRP1_HUMAN structure specific recognition protein 1 641 Ser-rich. DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|cytoplasm|nucleoplasm DNA binding|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4) 23 GAGGGCGTGGATTTCTTTTCC 0.498000 6 39 0 0 1 0 0 AOC1 26 broad.mit.edu 37 7 150554789 150554789 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:150554789C>T ENST00000493429.1 + 4 1815 c.1231C>T c.(1231-1233)Cat>Tat p.H411Y AOC1_ENST00000416793.2_Missense_Mutation_p.H411Y|AOC1_ENST00000360937.4_Missense_Mutation_p.H411Y|AOC1_ENST00000467291.1_Missense_Mutation_p.H411Y amine oxidase, copper containing 1 TGACCCGGTCCATTATCCCCG 0.577000 17 73 0 0 1 0 0 KRTCAP3 200634 broad.mit.edu 37 2 27666038 27666038 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:27666038G>A ENST00000543753.1 + 4 418 c.371G>A c.(370-372)gGt>gAt p.G124D KRTCAP3_ENST00000407293.1_Missense_Mutation_p.G106D|KRTCAP3_ENST00000288873.3_Missense_Mutation_p.G124D NM_001168364.1 NP_001161836.1 Q53RY4 KCP3_HUMAN keratinocyte associated protein 3 124 integral to membrane large_intestine(1)|lung(2) 3 Acute lymphoblastic leukemia(172;0.155) GTGGCCAACGGTGGCCGCCGC 0.617000 10 123 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35756497 35756497 + Splice_Site SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:35756497G>A ENST00000540320.1 + 29 5197 c.4662_splice c.e29-1 p.D1555_splice NBEA_ENST00000400445.3_Splice_Site_p.D1555_splice|NBEA_ENST00000379939.2_Splice_Site_p.D1552_splice|NBEA_ENST00000310336.4_Splice_Site_p.D1555_splice Q8NFP9 NBEA_HUMAN neurobeachin 1555 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TTTTTCATAGGATGATAGCAA 0.343000 8 48 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994732 140994732 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:140994732C>T ENST00000285879.4 + 4 1828 c.1542C>T c.(1540-1542)ctC>ctT p.L514L MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 514 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) AGTCTCCTCTCCAGATTCCTC 0.507000 HNSCC(15;0.026) 36 58 0 0 1 0 0 RASGEF1C 255426 broad.mit.edu 37 5 179554673 179554673 + Missense_Mutation SNP C C A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:179554673C>A ENST00000393371.2 - 5 946 c.650G>T c.(649-651)cGg>cTg p.R217L RASGEF1C_ENST00000522500.1_Missense_Mutation_p.R66L|RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R217L|RASGEF1C_ENST00000519883.1_5'UTR Q8N431 RGF1C_HUMAN RasGEF domain family, member 1C 217 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1) 12 all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCGATGTGCCGCAGCCGCTC 0.627000 3 14 0.00024832 0.000250268 1 1 0 PACS2 23241 broad.mit.edu 37 14 105859672 105859672 + Splice_Site SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:105859672G>A ENST00000447393.1 + 23 2738 c.2563_splice c.e23+1 p.V855_splice PACS2_ENST00000551743.1_Splice_Site_p.V365_splice|PACS2_ENST00000551801.1_Splice_Site_p.V52_splice|PACS2_ENST00000547217.1_Splice_Site_p.V821_splice|PACS2_ENST00000325438.8_Splice_Site_p.V851_splice|PACS2_ENST00000458164.2_Splice_Site_p.V866_splice|PACS2_ENST00000430725.2_Splice_Site_p.V776_splice NM_015197.3 NP_056012.2 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 851 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 21 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) CATGCTGCGGGGTGAGCACCA 0.617000 4 33 0 0 1 0 0 HDC 3067 broad.mit.edu 37 15 50555432 50555432 + Splice_Site SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr15:50555432C>T ENST00000267845.3 - 2 606 c.204_splice c.e2+1 p.G68_splice HDC_ENST00000543581.1_Splice_Site_p.G68_splice NM_002112.3 NP_002103.2 P19113 DCHS_HUMAN histidine decarboxylase 68 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) TGTGTCTCACCCCAGGCATGA 0.582000 10 97 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161113333 161113333 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:161113333C>T ENST00000523217.1 + 2 378 c.136C>T c.(136-138)Cgg>Tgg p.R46W GABRA6_ENST00000274545.5_Missense_Mutation_p.R46W|GABRA6_ENST00000522269.1_3'UTR NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 46 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTATGACAATCGGCTGCGGCC 0.493000 TCGA Ovarian(5;0.080) 7 58 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179605802 179605802 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:179605802G>A ENST00000589042.1 - 48 12382 c.12158C>T c.(12157-12159)cCa>cTa p.P4053L TTN_ENST00000359218.5_Missense_Mutation_p.P3815L|TTN_ENST00000460472.2_Missense_Mutation_p.P3690L|TTN_ENST00000342175.6_Missense_Mutation_p.P3882L|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P3736L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3736 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGTGTCTGTGGAAAATCCTC 0.478000 14 131 0 0 1 0 0 PCNX 22990 broad.mit.edu 37 14 71575507 71575507 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:71575507C>T ENST00000304743.2 + 34 6934 c.6488C>T c.(6487-6489)tCa>tTa p.S2163L PCNX_ENST00000439984.3_Missense_Mutation_p.S2052L|PCNX_ENST00000238570.5_Missense_Mutation_p.S2091L|PCNX_ENST00000556272.1_3'UTR NM_014982.2 NP_055797.2 Q96RV3 PCX1_HUMAN pecanex homolog (Drosophila) 2163 Ser-rich. integral to membrane p.S2163L(1) NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1) 87 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) AACTTGCCATCATCCATCCAA 0.572000 7 40 0 0 1 0 0 BIN2 51411 broad.mit.edu 37 12 51685575 51685575 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:51685575C>T ENST00000267012.4 - 10 1376 c.1315G>A c.(1315-1317)Gcc>Acc p.A439T BIN2_ENST00000452142.2_Missense_Mutation_p.A407T|BIN2_ENST00000544402.1_Missense_Mutation_p.A413T|BIN2_ENST00000604560.1_Missense_Mutation_p.A412T NM_016293.2 NP_057377.2 Q9UBW5 BIN2_HUMAN bridging integrator 2 439 Pro-rich. cytoplasm protein binding NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3) 31 CCTCCAGAGGCTGTAGGGCTG 0.622000 8 32 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76799510 76799510 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:76799510G>A ENST00000312010.6 - 16 3091 c.2767C>T c.(2767-2769)Ctt>Ttt p.L923F USP36_ENST00000542802.2_Missense_Mutation_p.L923F|USP36_ENST00000449938.2_Missense_Mutation_p.L528F NM_025090.3 NP_079366.3 Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 923 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) TCTTCACCAAGACCTTCTGCT 0.582000 7 51 0 0 1 0 0 CTBP1-AS2 92070 broad.mit.edu 37 4 1244973 1244973 + RNA SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:1244973G>A ENST00000581398.1 + 0 927 CTBP1-AS2_ENST00000357591.2_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA NR_033339.1 TGTTCCAAGCGCTGCCTTCTC 0.567000 4 16 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66431973 66431973 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:66431973C>T ENST00000341529.3 + 9 1597 c.1449C>T c.(1447-1449)taC>taT p.Y483Y CDH5_ENST00000539168.1_5'UTR NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 483 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCAAGCCCTACCAGCCCAAAG 0.572000 21 95 0 0 1 0 0 MAGEB4 4115 broad.mit.edu 37 X 30261045 30261045 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:30261045C>T ENST00000378982.2 + 1 989 c.793C>T c.(793-795)Ccc>Tcc p.P265S NM_002367.3 NP_002358.1 O15481 MAGB4_HUMAN melanoma antigen family B, 4 265 MAGE. breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 CAACAGTGATCCCCCACGCTA 0.502000 11 21 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16138351 16138351 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:16138351C>T ENST00000399408.2 + 8 1029 c.854C>T c.(853-855)cCg>cTg p.P285L ABCC1_ENST00000349029.5_Missense_Mutation_p.P285L|ABCC1_ENST00000345148.5_Missense_Mutation_p.P285L|ABCC1_ENST00000346370.5_Missense_Mutation_p.P285L|ABCC1_ENST00000399410.3_Missense_Mutation_p.P285L|ABCC1_ENST00000351154.5_Missense_Mutation_p.P285L P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 285 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CCTGCCCAGCCGAAAGAGAGT 0.557000 3 34 0 0 1 0 0 TRBV19 28568 broad.mit.edu 37 7 142326766 142326766 + RNA SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:142326766G>A ENST00000390393.3 + 0 272 CGTGGATGGTGGAATCACTCA 0.527000 11 66 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986016 11986016 + RNA SNP C C A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:11986016C>A ENST00000434078.2 + 0 608 NR_027425.1 AACGTCTTGGCGGCAGGCGCC 0.478000 5 56 0.000602214 0.000602214 1 1 0 FAM49B 51571 broad.mit.edu 37 8 130891648 130891648 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:130891648G>A ENST00000519824.2 - 3 333 c.60C>T c.(58-60)ttC>ttT p.F20F FAM49B_ENST00000517654.1_Silent_p.F20F|FAM49B_ENST00000518879.1_Intron|FAM49B_ENST00000519110.1_Silent_p.F20F|FAM49B_ENST00000519540.1_Silent_p.F20F|FAM49B_ENST00000523509.1_Silent_p.F20F|FAM49B_ENST00000522746.1_Silent_p.F20F|FAM49B_ENST00000401979.2_Silent_p.F20F|FAM49B_ENST00000522250.1_Intron|FAM49B_ENST00000522941.1_Intron NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 20 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) CAAAATCAAGGAAAAAATTTG 0.373000 6 27 0 0 1 0 0 ACOT6 641372 broad.mit.edu 37 14 74086109 74086109 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:74086109G>A ENST00000381139.1 + 2 521 c.190G>A c.(190-192)Gat>Aat p.D64N RP3-414A15.10_ENST00000555011.1_RNA NM_001037162.1 NP_001032239.1 Q3I5F7 ACOT6_HUMAN acyl-CoA thioesterase 6 64 cytosol carboxylesterase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 7 BRCA - Breast invasive adenocarcinoma(234;0.00331) ACTTGTCGATGATCTAGGAAA 0.403000 4 66 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128814897 128814897 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:128814897G>A ENST00000270861.5 + 13 2697 c.2423G>A c.(2422-2424)gGt>gAt p.G808D PLK4_ENST00000507249.1_Missense_Mutation_p.G747D|PLK4_ENST00000513090.1_Missense_Mutation_p.G776D|PLK4_ENST00000514379.1_Missense_Mutation_p.G767D|PLK4_ENST00000515069.1_Missense_Mutation_p.G730D NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 808 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 AGAAAACCTGGTAGTACTAGT 0.353000 12 101 0 0 1 0 0 UGT2A1 10941 broad.mit.edu 37 4 70455304 70455304 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:70455304C>T ENST00000503640.1 - 6 1425 c.1370G>A c.(1369-1371)cGa>cAa p.R457Q UGT2A1_ENST00000512704.1_Missense_Mutation_p.R413Q|UGT2A2_ENST00000457664.2_Missense_Mutation_p.R466Q|UGT2A1_ENST00000514019.1_Missense_Mutation_p.R623Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.R457Q NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus 457 detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GAAGACTGCTCGATCCAGGGG 0.448000 19 63 0 0 1 0 0 TRBV7-4 28594 broad.mit.edu 37 7 142176756 142176756 + RNA SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:142176756C>T ENST00000390369.2 - 0 34 CCCTAGGAAACCCAGGACCAC 0.512000 14 59 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3548013 3548013 + Missense_Mutation SNP C C A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:3548013C>A ENST00000355415.2 - 4 839 c.670G>T c.(670-672)Gtg>Ttg p.V224L AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000389395.3_Missense_Mutation_p.V224L|MFSD12_ENST00000398558.4_Missense_Mutation_p.V224L NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 224 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 ACACCCACCACCAGCAGGGAC 0.701000 4 31 0.00024832 0.000250268 1 1 0 EXPH5 23086 broad.mit.edu 37 11 108381647 108381647 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:108381647G>A ENST00000265843.4 - 6 4697 c.4587C>T c.(4585-4587)aaC>aaT p.N1529N EXPH5_ENST00000428840.1_Silent_p.N1453N|EXPH5_ENST00000443411.1_Silent_p.N1341N|EXPH5_ENST00000525344.1_Silent_p.N1522N NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 1529 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GACTCTCTAAGTTTGGTTCAT 0.433000 6 25 0 0 1 0 0 SYTL2 54843 broad.mit.edu 37 11 85445603 85445603 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:85445603G>A ENST00000316356.4 - 7 1333 c.769C>T c.(769-771)Cct>Tct p.P257S SYTL2_ENST00000389960.4_Missense_Mutation_p.P256S|SYTL2_ENST00000524452.1_Missense_Mutation_p.P256S|SYTL2_ENST00000528231.1_Missense_Mutation_p.P256S|SYTL2_ENST00000527523.1_Missense_Mutation_p.P208S Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 256 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CTTTGTCTAGGAAAAGACTGG 0.473000 5 75 0 0 1 0 0 ALX3 257 broad.mit.edu 37 1 110607256 110607256 + Missense_Mutation SNP G G A rs121908168 TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:110607256G>A ENST00000369792.4 - 2 634 c.547C>T c.(547-549)Cgg>Tgg p.R183W NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 183 R -> W (in FND1). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) AGCTGCTCCCGGGCATACACA 0.597000 7 31 0 0 1 0 0 CD200R1 131450 broad.mit.edu 37 3 112642585 112642585 + Missense_Mutation SNP T T C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:112642585T>C ENST00000471858.1 - 7 1149 c.917A>G c.(916-918)aAc>aGc p.N306S CD200R1_ENST00000308611.3_Missense_Mutation_p.N329S|CD200R1_ENST00000295863.4_3'UTR NM_170780.2 NP_740750.1 Q8TD46 MO2R1_HUMAN CD200 receptor 1 306 interspecies interaction between organisms|regulation of immune response extracellular region|integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 26 CTTCACCTTGTTTGTAGTATC 0.378000 6 33 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 28913433 28913433 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:28913433G>A ENST00000282397.4 - 17 2611 c.2360C>T c.(2359-2361)tCt>tTt p.S787F FLT1_ENST00000540678.1_Missense_Mutation_p.S5F NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 787 cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TATTTCAGAAGAAGACTGAGA 0.383000 4 27 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767909 77767909 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:77767909C>T ENST00000521891.2 + 10 9200 c.8752C>T c.(8752-8754)Ccc>Tcc p.P2918S ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2892S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2873S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2873S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2873 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATCCAGCAATCCCTTTAAATC 0.493000 HNSCC(33;0.089) 10 30 0 0 1 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328342 61328342 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr18:61328342C>T ENST00000283752.5 - 2 252 c.109G>A c.(109-111)Gca>Aca p.A37T SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.A37T NM_006919.2 NP_008850.1 P29508 SPB3_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 3 37 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 ATCCCTAATGCTGATGTGATG 0.418000 14 65 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5897000 5897000 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr20:5897000G>A ENST00000378961.4 + 2 282 c.78G>A c.(76-78)agG>agA p.R26R CHGB_ENST00000488832.1_3'UTR NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 26 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 TGGATAACAGGAACCACAATG 0.393000 3 11 0 0 1 0 0 LIPJ 142910 broad.mit.edu 37 10 90362398 90362398 + Nonsense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:90362398G>A ENST00000371939.3 + 9 1103 c.789G>A c.(787-789)tgG>tgA p.W263* NM_001010939.2 NP_001010939.2 Q5W064 LIPJ_HUMAN lipase, family member J 263 lipid catabolic process hydrolase activity large_intestine(4)|lung(4)|ovary(1) 9 all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222) Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05) TGCTTCATTGGAGTCAGGTAT 0.348000 4 41 0 0 1 0 0 PPIL6 285755 broad.mit.edu 37 6 109748299 109748299 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:109748299C>T ENST00000521072.2 - 4 1061 c.481G>A c.(481-483)Gag>Aag p.E161K PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Missense_Mutation_p.E129K|PPIL6_ENST00000440797.2_Missense_Mutation_p.E161K NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 161 PPIase cyclophilin-type. protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) AGTATCACCTCAAAAATCAAT 0.303000 8 16 0 0 1 0 0 TSSK6 83983 broad.mit.edu 37 19 19626089 19626089 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:19626089G>A ENST00000360913.3 - 1 749 c.148C>T c.(148-150)Ccg>Tcg p.P50S TSSK6_ENST00000585580.3_Missense_Mutation_p.P50S Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 50 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 ACGAAGTCCGGGGGCGCTCGC 0.612000 9 32 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140208464 140208464 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:140208464G>A ENST00000529310.1 + 1 902 c.788G>A c.(787-789)aGa>aAa p.R263K PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.R263K|PCDHA2_ENST00000526136.1_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAGTTATCAGACTGAATGCT 0.408000 6 59 0 0 1 0 0 ACSM4 341392 broad.mit.edu 37 12 7457031 7457031 + Missense_Mutation SNP T T C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:7457031T>C ENST00000399422.4 + 1 152 c.104T>C c.(103-105)cTt>cCt p.L35P NM_001080454.1 NP_001073923.1 P0C7M7 ACSM4_HUMAN acyl-CoA synthetase medium-chain family member 4 35 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding endometrium(6)|kidney(1)|lung(14) 21 CCTCTGACTCTTGCTGACTTT 0.473000 18 100 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 10 39 0 0 1 0 0 SMYD2 56950 broad.mit.edu 37 1 214498026 214498026 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:214498026C>T ENST00000366957.5 + 6 599 c.577C>T c.(577-579)Cat>Tat p.H193Y SMYD2_ENST00000491455.1_3'UTR|SMYD2_ENST00000415093.2_Missense_Mutation_p.H193Y NM_020197.2 NP_064582.2 Q9NRG4 SMYD2_HUMAN SET and MYND domain containing 2 193 SET. negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent cytosol|nucleus histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144) AGAACTTTCTCATTTGGGATC 0.338000 18 82 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64601265 64601265 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:64601265C>T ENST00000342711.5 - 22 2509 c.2510G>A c.(2509-2511)aGg>aAg p.R837K NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 837 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 TCCTCCATGCCTTGTGGCCTC 0.647000 11 62 0 0 1 0 0 ASPG 374569 broad.mit.edu 37 14 104570979 104570979 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:104570979C>T ENST00000551177.1 + 9 1049 c.957C>T c.(955-957)gtC>gtT p.V319V ASPG_ENST00000455920.2_Silent_p.V319V|ASPG_ENST00000546892.2_Silent_p.V319V NM_001080464.2 NP_001073933.2 Q86U10 LPP60_HUMAN asparaginase homolog (S. cerevisiae) 319 Asparaginase. lipid catabolic process 1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 11 GAGCCGGCGTCATCTCAGGCT 0.682000 4 22 0 0 1 0 0 KRT25 147183 broad.mit.edu 37 17 38905539 38905539 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:38905539C>T ENST00000312150.4 - 7 1274 c.1214G>A c.(1213-1215)gGa>gAa p.G405E NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 405 Tail. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) ATTTCCAGATCCATAATCTTT 0.358000 9 98 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61829763 61829763 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:61829763C>T ENST00000280772.1 - 37 11067 c.10876G>A c.(10876-10878)Gaa>Aaa p.E3626K ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 3626 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGCCTCTCTTCAACAAAATCC 0.473000 5 42 0 0 1 0 0 PRSS16 10279 broad.mit.edu 37 6 27215684 27215684 + Nonsense_Mutation SNP G G T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:27215684G>T ENST00000230582.3 + 2 109 c.94G>T c.(94-96)Gag>Tag p.E32* PRSS16_ENST00000421826.2_Nonsense_Mutation_p.E32* NM_005865.3 NP_005856.1 Q9NQE7 TSSP_HUMAN protease, serine, 16 (thymus) 32 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 26 GCGCCTGGGTGAGCACATTCA 0.632000 12 59 9.31168e-06 9.4589e-06 1 1 0 CCR5 1234 broad.mit.edu 37 3 46414966 46414966 + Silent SNP G G A rs333 byFrequency TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:46414966G>A ENST00000343801.4 + 3 930 c.573G>A c.(571-573)aaG>aaA p.K191K CCR5_ENST00000292303.4_Silent_p.K191K|CCR5_ENST00000445772.1_Silent_p.K191K|RP11-24F11.2_ENST00000451485.1_RNA NM_000579.3 NP_000570.1 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 (gene/pseudogene) 191 cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity p.K191N(1) central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) AATTCTGGAAGAATTTCCAGA 0.448000 35 156 0 0 1 0 0 CDH8 1006 broad.mit.edu 37 16 62055094 62055094 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:62055094C>T ENST00000577390.1 - 2 1168 c.214G>A c.(214-216)Gaa>Aaa p.E72K CDH8_ENST00000577730.1_Missense_Mutation_p.E72K|CDH8_ENST00000299345.6_Missense_Mutation_p.E72K|CDH8_ENST00000584337.1_Missense_Mutation_p.E72K NM_001796.4 NP_001787.2 P55286 CADH8_HUMAN cadherin 8, type 2 72 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4) 112 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) GAAAACTCTTCCAGGACAAAC 0.423000 5 40 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69621313 69621313 + Splice_Site SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:69621313C>T ENST00000337103.4 + 8 2585 c.994_splice c.e8+1 p.F331_splice C8orf34_ENST00000539993.1_Splice_Site_p.F356_splice|C8orf34_ENST00000518698.1_Splice_Site_p.F442_splice|C8orf34_ENST00000325233.3_Splice_Site_p.F100_splice Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 356 signal transduction cAMP-dependent protein kinase regulator activity p.F331F(1)|p.F356F(1) NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) CAGATTCATTCGGTAAGTTTT 0.343000 3 21 0 0 1 0 0 SUMF2 25870 broad.mit.edu 37 7 56140705 56140705 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:56140705G>A ENST00000434526.2 + 3 328 c.297G>A c.(295-297)gaG>gaA p.E99E SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000437307.2_Silent_p.E80E|SUMF2_ENST00000342190.6_Silent_p.E99E|SUMF2_ENST00000395435.2_Silent_p.E99E|SUMF2_ENST00000395436.2_Silent_p.E99E|SUMF2_ENST00000413756.1_Silent_p.E80E NM_001042469.1|NM_015411.2 NP_001035934.2|NP_056226.2 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 80 endoplasmic reticulum lumen metal ion binding breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1) 14 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTGTCAGGGAGAAAAAGTATC 0.473000 9 25 0 0 1 0 0 SCNM1 79005 broad.mit.edu 37 1 151141482 151141482 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:151141482G>A ENST00000368905.4 + 7 725 c.614G>A c.(613-615)gGa>gAa p.G205E NM_001204856.1|NM_024041.3 NP_001191785.1|NP_076946.1 Q9BWG6 SCNM1_HUMAN sodium channel modifier 1 205 mRNA processing|RNA splicing nucleus metal ion binding|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) ATCCCAGATGGACGAGGTCGA 0.453000 12 40 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79027271 79027271 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:79027271C>T ENST00000446378.2 + 2 2714 c.2683C>T c.(2683-2685)Ccc>Tcc p.P895S NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 895 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ACGATACACACCCTCTTCTAC 0.468000 7 22 0 0 1 0 0 TAS2R41 259287 broad.mit.edu 37 7 143175712 143175712 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:143175712C>T ENST00000408916.1 + 1 747 c.747C>T c.(745-747)tcC>tcT p.S249S EPHA1-AS1_ENST00000429289.1_RNA NM_176883.2 NP_795364.2 P59536 T2R41_HUMAN taste receptor, type 2, member 41 249 sensory perception of taste integral to membrane G-protein coupled receptor activity endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1) 18 Melanoma(164;0.15) CCTTTCTGTCCCTGATCATTG 0.507000 10 66 0 0 1 0 0 BTBD7 55727 broad.mit.edu 37 14 93730273 93730273 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:93730273G>A ENST00000334746.5 - 4 1536 c.1229C>T c.(1228-1230)tCt>tTt p.S410F BTBD7_ENST00000393170.2_Intron|BTBD7_ENST00000554565.1_Missense_Mutation_p.S59F NM_001002860.2 NP_001002860.2 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 410 breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1) 35 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) ATATGGATGAGAACTCCACTT 0.408000 4 42 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51382590 51382590 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:51382590G>A ENST00000216392.7 - 10 1524 c.1192C>T c.(1192-1194)Cct>Tct p.P398S PYGL_ENST00000544180.2_Missense_Mutation_p.P364S|PYGL_ENST00000532462.1_Missense_Mutation_p.P398S NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 398 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) AAATGTCGAGGGAGCAGCTTC 0.488000 4 29 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 236659084 236659084 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:236659084G>A ENST00000409538.1 + 6 1916 c.1420G>A c.(1420-1422)Gag>Aag p.E474K AGAP1_ENST00000336665.5_Missense_Mutation_p.E209K|AGAP1_ENST00000304032.7_Missense_Mutation_p.E209K|AGAP1_ENST00000428334.2_Missense_Mutation_p.E48K|AGAP1_ENST00000409457.1_Missense_Mutation_p.E209K Q9UPQ3 AGAP1_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 209 PH. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CACGTACTACGAGACGTGTGC 0.537000 11 97 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211518789 211518789 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:211518789G>A ENST00000233072.5 + 29 3717 c.3521G>A c.(3520-3522)cGa>cAa p.R1174Q CPS1_ENST00000430249.2_Missense_Mutation_p.R1180Q|CPS1_ENST00000451903.2_Missense_Mutation_p.R723Q NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1174 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GAAGGGGCCCGAGAAGTAGAA 0.423000 10 40 0 0 1 0 0 OR52H1 390067 broad.mit.edu 37 11 5565961 5565961 + Missense_Mutation SNP A A T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:5565961A>T ENST00000322653.4 - 1 818 c.793T>A c.(793-795)Ttc>Atc p.F265I HBG2_ENST00000380259.2_Intron NM_001005289.1 NP_001005289.1 Q8NGJ2 O52H1_HUMAN olfactory receptor, family 52, subfamily H, member 1 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGATGGAGAAAAAGGCAGGT 0.502000 5 34 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141568589 141568589 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:141568589G>A ENST00000220592.5 - 7 985 c.873C>T c.(871-873)caC>caT p.H291H AGO2_ENST00000519980.1_Silent_p.H291H NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 GTTACGTTTGGTGACTGGCGG 0.582000 19 66 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153928 45153928 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:45153928G>A ENST00000296129.1 - 3 436 c.302C>T c.(301-303)tCa>tTa p.S101L CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.S101L NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 101 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) ACATGGGCCTGACATACAGTC 0.507000 30 109 0 0 1 0 0 PPP1R12C 54776 broad.mit.edu 37 19 55607264 55607264 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:55607264G>A ENST00000263433.3 - 9 1213 c.1198C>T c.(1198-1200)Ccg>Tcg p.P400S PPP1R12C_ENST00000376393.2_Missense_Mutation_p.P400S|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.P326S NM_001271618.1|NM_017607.2 NP_001258547.1|NP_060077.1 Q9BZL4 PP12C_HUMAN protein phosphatase 1, regulatory subunit 12C 400 cytoplasm p.P400T(1) central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 22 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) GGGTGCGGCGGGGAGGAGACG 0.612000 31 69 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119097172 119097172 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:119097172C>T ENST00000328252.3 + 13 3799 c.3430C>T c.(3430-3432)Ctg>Ttg p.L1144L PAPPA_ENST00000534838.1_Silent_p.L182L NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1144 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 GAACAATCCCCTGATTATCCC 0.632000 13 36 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8518175 8518175 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:8518175C>T ENST00000381196.4 - 18 1759 c.1216G>A c.(1216-1218)Gaa>Aaa p.E406K PTPRD_ENST00000358503.5_Missense_Mutation_p.E393K|PTPRD_ENST00000486161.1_Missense_Mutation_p.E406K|PTPRD_ENST00000356435.5_Missense_Mutation_p.E406K|PTPRD_ENST00000355233.5_Missense_Mutation_p.E406K|PTPRD_ENST00000397606.3_Missense_Mutation_p.E396K|PTPRD_ENST00000397617.3_Missense_Mutation_p.E396K|PTPRD_ENST00000397611.3_Missense_Mutation_p.E403K|PTPRD_ENST00000537002.1_Missense_Mutation_p.E403K|PTPRD_ENST00000540109.1_Missense_Mutation_p.E406K|PTPRD_ENST00000360074.4_Missense_Mutation_p.E393K NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 406 Fibronectin type-III 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGCACAGGTTCGCTGGGAGGC 0.542000 TSP Lung(15;0.13) 52 87 0 0 1 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290979 141290979 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:141290979G>A ENST00000247452.3 - 3 1142 c.795C>T c.(793-795)ttC>ttT p.F265F NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 265 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) CCCCATAGACGAAGTGCTCCC 0.507000 HNSCC(46;0.14) 22 41 0 0 1 0 0 OR2S2 56656 broad.mit.edu 37 9 35957967 35957967 + Silent SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:35957967A>G ENST00000341959.2 - 1 184 c.129T>C c.(127-129)aaT>aaC p.N43N NM_019897.2 NP_063950.2 Q9NQN1 OR2S1_HUMAN olfactory receptor, family 2, subfamily S, member 2 43 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(32;0.00613)|STAD - Stomach adenocarcinoma(86;0.194) TGAGGACCCCATTGCCCAGCA 0.557000 9 47 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88476299 88476299 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:88476299G>A ENST00000429277.2 + 10 1607 c.1462G>A c.(1462-1464)Gag>Aag p.E488K LDB3_ENST00000458213.2_Missense_Mutation_p.E373K|LDB3_ENST00000361373.4_Missense_Mutation_p.E483K|LDB3_ENST00000263066.6_Missense_Mutation_p.E373K|LDB3_ENST00000352360.5_Missense_Mutation_p.E226K NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 483 cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 GGGCCCTGCGGAGCCTGCCAG 0.647000 28 80 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72131228 72131228 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:72131228G>A ENST00000305425.4 - 6 1926 c.1504C>T c.(1504-1506)Cct>Tct p.P502S DACH1_ENST00000354591.4_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.P554S|DACH1_ENST00000313174.7_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 552 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) TTGGGCCCAGGAAGTACATTT 0.408000 7 53 0 0 1 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:30795310C>T ENST00000013222.5 + 3 651 c.635C>T c.(634-636)tCc>tTc p.S212F INMT_ENST00000409539.1_Missense_Mutation_p.S211F|INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron NM_001199219.1|NM_006774.4 NP_001186148.1|NP_006765.4 O95050 INMT_HUMAN indolethylamine N-methyltransferase 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 11 50 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137688743 137688743 + Missense_Mutation SNP C C G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:137688743C>G ENST00000371817.3 + 36 3308 c.2894C>G c.(2893-2895)cCc>cGc p.P965R NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 965 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCAAAGGGCCCCCCTGTAAGT 0.587000 18 59 0 0 1 0 0 TEX37 200523 broad.mit.edu 37 2 88828806 88828806 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:88828806C>T ENST00000303254.3 + 4 499 c.357C>T c.(355-357)gcC>gcT p.A119A NM_152670.2 NP_689883.1 testis expressed 37 TGCACCTGGCCCAGGGTGACC 0.587000 15 56 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35993821 35993821 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:35993821G>A ENST00000297866.5 + 15 2570 c.2504G>A c.(2503-2505)aGt>aAt p.S835N NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 835 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 AATGTACCCAGTGGACACATC 0.393000 20 29 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28250509 28250509 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:28250509C>T ENST00000305242.5 - 10 1466 c.1374G>A c.(1372-1374)gtG>gtA p.V458V ARMC4_ENST00000537576.1_Silent_p.V150V|ARMC4_ENST00000239715.3_Silent_p.V315V|ARMC4_ENST00000545014.1_5'UTR|ARMC4_ENST00000480504.1_5'UTR NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 458 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 TTAAATATTTCACCAGCTTCT 0.378000 8 56 0 0 1 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179632760 179632760 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:179632760C>T ENST00000589042.1 - 39 9510 c.9286G>A c.(9286-9288)Gaa>Aaa p.E3096K TTN_ENST00000359218.5_Missense_Mutation_p.E3050K|TTN_ENST00000460472.2_Missense_Mutation_p.E3050K|TTN_ENST00000342175.6_Missense_Mutation_p.E3050K|TTN_ENST00000342992.6_Missense_Mutation_p.E3096K|TTN_ENST00000360870.5_Missense_Mutation_p.E3096K|TTN_ENST00000591111.1_Missense_Mutation_p.E3096K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2833 Ig-like 18. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATCTGCAGTTCCTGGTCATCT 0.418000 5 54 0 0 1 0 0 ISL1 3670 broad.mit.edu 37 5 50685526 50685526 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:50685526C>T ENST00000230658.7 + 4 1110 c.525C>T c.(523-525)caC>caT p.H175H ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.H175H NM_002202.2 NP_002193.2 P61371 ISL1_HUMAN ISL LIM homeobox 1 175 generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(810;0.000845)|Breast(144;0.0411) CCCACGTCCACAAGCAGCCGG 0.716000 4 26 0 0 1 0 0 MESP2 145873 broad.mit.edu 37 15 90321375 90321375 + Missense_Mutation SNP A A T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr15:90321375A>T ENST00000341735.3 + 2 1004 c.1004A>T c.(1003-1005)cAg>cTg p.Q335L MESP2_ENST00000558723.1_3'UTR|MESP2_ENST00000560219.1_Missense_Mutation_p.Q37L NM_001039958.1 NP_001035047.1 Q0VG99 MESP2_HUMAN mesoderm posterior 2 homolog (mouse) 335 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CAGAGACTGCAGCCTCAGACC 0.637000 7 29 0 0 1 0 0 GRK5 2869 broad.mit.edu 37 10 121203251 121203251 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:121203251C>T ENST00000392870.2 + 12 1582 c.1253C>T c.(1252-1254)tCc>tTc p.S418F GRK5_ENST00000369108.3_Missense_Mutation_p.S313F NM_005308.2 NP_005299.1 P34947 GRK5_HUMAN G protein-coupled receptor kinase 5 418 Protein kinase. G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway cytoplasm|plasma membrane|soluble fraction ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1) 27 Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249) all cancers(201;0.0227) GAGGCCAAGTCCATCTGCAAG 0.642000 4 22 0 0 1 0 0 DNAH7 56171 broad.mit.edu 37 2 196825573 196825573 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:196825573G>A ENST00000312428.6 - 18 2402 c.2302C>T c.(2302-2304)Cgt>Tgt p.R768C NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 768 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 TCATAAAGACGAAGATAAGGG 0.403000 14 79 0 0 1 0 0 PYGL 5836 broad.mit.edu 37 14 51382591 51382591 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:51382591G>A ENST00000216392.7 - 10 1523 c.1191C>T c.(1189-1191)ctC>ctT p.L397L PYGL_ENST00000544180.2_Silent_p.L363L|PYGL_ENST00000532462.1_Silent_p.L397L NM_002863.4 NP_002854.3 P06737 PYGL_HUMAN phosphorylase, glycogen, liver 397 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3) 25 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) AATGTCGAGGGAGCAGCTTCT 0.488000 4 29 0 0 1 0 0 NOC4L 79050 broad.mit.edu 37 12 132631868 132631868 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:132631868G>A ENST00000330579.1 + 4 429 c.388G>A c.(388-390)Gga>Aga p.G130R NM_024078.1 NP_076983.1 Q9BVI4 NOC4L_HUMAN nucleolar complex associated 4 homolog (S. cerevisiae) 130 rRNA processing integral to membrane|nuclear membrane|nucleolus protein binding endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2) 14 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05) GCAGCTGGAAGGAGCGCACCC 0.652000 3 3 0 0 1 0 0 RECQL5 9400 broad.mit.edu 37 17 73623540 73623540 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:73623540C>T ENST00000317905.5 - 20 3097 c.2938G>A c.(2938-2940)Gaa>Aaa p.E980K RECQL5_ENST00000423245.2_Missense_Mutation_p.E953K|RECQL5_ENST00000443199.2_5'UTR NM_004259.6 NP_004250.4 O94762 RECQ5_HUMAN RecQ protein-like 5 980 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding p.E953K(1) breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 36 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGTCAGCTTCGCTCTCGCAC 0.627000 Other identified genes with known or suspected DNA repair function 10 97 0 0 1 0 0 HCAR1 27198 broad.mit.edu 37 12 123214542 123214542 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:123214542G>A ENST00000432564.1 - 1 587 c.345C>T c.(343-345)ttC>ttT p.F115F HCAR1_ENST00000436083.2_Silent_p.F115F|HCAR1_ENST00000356987.2_Silent_p.F115F NM_032554.3 NP_115943.1 Q9BXC0 HCAR1_HUMAN hydroxycarboxylic acid receptor 1 115 response to estradiol stimulus integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(1)|skin(1) 10 GGACCACTTTGAAATACCTGT 0.617000 8 46 0 0 1 0 0 H6PD 9563 broad.mit.edu 37 1 9323666 9323666 + Missense_Mutation SNP T T G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:9323666T>G ENST00000377403.2 + 5 1416 c.1114T>G c.(1114-1116)Ttg>Gtg p.L372V H6PD_ENST00000602477.1_Missense_Mutation_p.L383V NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) 372 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) CGCTCGGATCTTGTTCAAGAA 0.612000 5 54 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9034696 9034696 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:9034696C>T ENST00000383836.3 - 20 2879 c.2452G>A c.(2452-2454)Gag>Aag p.E818K SRGAP3_ENST00000360413.3_Missense_Mutation_p.E794K NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 818 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CTGCTGGCCTCGCTGTCAGCC 0.572000 T RAF1 pilocytic astrocytoma 5 35 0 0 1 0 0 ITCH 83737 broad.mit.edu 37 20 33049960 33049960 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr20:33049960C>T ENST00000374864.4 + 14 1571 c.1358C>T c.(1357-1359)cCa>cTa p.P453L ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.P494L|ITCH_ENST00000535650.1_Missense_Mutation_p.P343L NM_001257137.1|NM_001257138.1|NM_031483.5 NP_001244066.1|NP_001244067.1|NP_113671.3 Q96J02 ITCH_HUMAN itchy E3 ubiquitin protein ligase 494 Required for interaction with FYN.|WW 3. apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus cytosol|nucleus|plasma membrane CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1) 36 GATGGAATTCCATATTTTGTG 0.348000 10 47 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63173858 63173858 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:63173858G>A ENST00000449996.3 + 9 663 c.591G>A c.(589-591)atG>atA p.M197I RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Missense_Mutation_p.M197I|RGS9_ENST00000262406.9_Missense_Mutation_p.M197I NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 197 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 AGCCTGGAATGGACAATGTGC 0.463000 7 71 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 758338 758338 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:758338G>A ENST00000215582.6 + 2 1495 c.1392G>A c.(1390-1392)acG>acA p.T464T NM_173481.2 NP_775752.1 mitotic spindle positioning CAAAGGCCACGATGTCCCCGA 0.617000 9 50 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137688744 137688744 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:137688744C>T ENST00000371817.3 + 36 3309 c.2895C>T c.(2893-2895)ccC>ccT p.P965P NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 965 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CAAAGGGCCCCCCTGTAAGTA 0.587000 18 58 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37838725 37838725 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:37838725G>A ENST00000324411.4 + 5 533 c.264G>A c.(262-264)ggG>ggA p.G88G HKR1_ENST00000591134.1_Silent_p.G27G|HKR1_ENST00000589392.1_Silent_p.G69G|HKR1_ENST00000392153.3_Silent_p.G69G|HKR1_ENST00000592168.1_Silent_p.G27G|HKR1_ENST00000591259.1_Silent_p.G69G|HKR1_ENST00000541583.2_Silent_p.G27G|HKR1_ENST00000591471.1_5'UTR|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000591417.1_Silent_p.G27G|HKR1_ENST00000586897.1_Silent_p.G27G NM_181786.2 NP_861451.1 P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 88 KRAB. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGAGCGAGGGGAAGCGCCCT 0.498000 3 31 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152845623 152845623 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:152845623C>T ENST00000263519.4 + 20 3656 c.3530C>T c.(3529-3531)cCg>cTg p.P1177L ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.P1177L NM_001001344.2 NP_001001344.1 Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1177 Poly-Pro. ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCCGCCCCCGTCCCCCAAC 0.602000 30 64 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236589 42236589 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:42236589C>T ENST00000541110.1 - 5 1308 c.740G>A c.(739-741)gGa>gAa p.G247E TRERF1_ENST00000372922.4_Missense_Mutation_p.G247E|TRERF1_ENST00000354325.2_Missense_Mutation_p.G247E|TRERF1_ENST00000340840.2_Missense_Mutation_p.G247E|TRERF1_ENST00000372917.4_Missense_Mutation_p.G247E Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 247 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGGCTGTCCTCCCTGCACTGG 0.602000 6 50 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121353207 121353207 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:121353207C>T ENST00000314583.3 - 10 841 c.750G>A c.(748-750)agG>agA p.R250R HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.R213R NM_005335.4 NP_005326.2 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 250 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CCTCTCGCTTCCTCTTCTCCT 0.547000 10 44 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122001057 122001057 + Missense_Mutation SNP A A C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:122001057A>C ENST00000334010.7 - 24 3813 c.3392T>G c.(3391-3393)gTg>gGg p.V1131G RP5-1101C3.1_ENST00000602012.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.V1092G|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.V1133G|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.V1092G|RP5-1101C3.1_ENST00000602199.1_RNA NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 1133 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 GCCTTCCAACACTGAAACAAA 0.348000 5 22 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65822642 65822642 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:65822642C>T ENST00000528302.1 + 4 408 c.354C>T c.(352-354)ggC>ggT p.G118G SF3B2_ENST00000322535.6_Silent_p.G118G Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 118 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TTGGCCTTGGCTTTCCTATGG 0.652000 20 44 0 0 1 0 0 METTL21C 196541 broad.mit.edu 37 13 103346827 103346827 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:103346827C>T ENST00000267273.6 - 1 27 c.22G>A c.(22-24)Gcg>Acg p.A8T NM_001010977.1 NP_001010977.1 Q5VZV1 MT21C_HUMAN methyltransferase like 21C 8 methyltransferase activity breast(1)|large_intestine(3)|lung(2)|skin(1) 7 GGCTGCTGCGCGGAGCTCAGA 0.577000 3 18 0 0 1 0 0 TRBJ2-4 28625 broad.mit.edu 37 7 142494712 142494712 + RNA SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:142494712G>A ENST00000390416.1 + 0 31 TCGGCGCCGGGACCCGGCTCT 0.711000 3 10 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126336563 126336563 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:126336563G>A ENST00000394329.3 + 5 6458 c.6445G>A c.(6445-6447)Gat>Aat p.D2149N FAT4_ENST00000335110.5_Missense_Mutation_p.D447N NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2149 Cadherin 20. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGACATCAATGATAACAACCC 0.378000 15 75 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14801678 14801678 + Silent SNP G G A rs75281180 by1000genomes TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr9:14801678G>A ENST00000380881.4 - 21 4484 c.3669C>T c.(3667-3669)caC>caT p.H1223H FREM1_ENST00000422223.2_Silent_p.H1222H|FREM1_ENST00000380880.3_Silent_p.H1222H Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1222 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TGGAAAAGCTGTGAACAGGTG 0.428000 21 24 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230654432 230654432 + Silent SNP A A T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:230654432A>T ENST00000283943.5 - 30 4543 c.4365T>A c.(4363-4365)atT>atA p.I1455I TRIP12_ENST00000389045.3_Silent_p.I1185I|TRIP12_ENST00000389044.4_Silent_p.I1503I NM_004238.1 NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1455 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) GTGGTGTGGGAATGAGGTAAA 0.363000 9 64 0 0 1 0 0 TXNDC11 51061 broad.mit.edu 37 16 11778031 11778031 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:11778031G>A ENST00000356957.3 - 12 2412 c.2305C>T c.(2305-2307)Ccc>Tcc p.P769S TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.P742S Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 769 Thioredoxin 2. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CTGTTGCAGGGAAAAAACAAG 0.408000 3 20 0 0 1 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428221 54428221 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:54428221C>T ENST00000566473.2 + 4 292 c.292C>T c.(292-294)Cgc>Tgc p.R98C ANKFN1_ENST00000318698.2_Missense_Mutation_p.R98C Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 98 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 CGCAGCCAAACGCCTGTACAG 0.453000 10 58 0 0 1 0 0 KDM2B 84678 broad.mit.edu 37 12 121881908 121881908 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:121881908C>T ENST00000377069.4 - 16 2671 c.2265G>A c.(2263-2265)ccG>ccA p.P755P KDM2B_ENST00000377071.4_Silent_p.P786P|KDM2B_ENST00000542973.1_Silent_p.P154P|KDM2B_ENST00000536437.1_Intron NM_001005366.1 NP_001005366.1 Q8NHM5 KDM2B_HUMAN lysine (K)-specific demethylase 2B 786 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 19 GGCCGTCCGGCGGCACCTTCT 0.627000 OREG0022201 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 123 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89986740 89986740 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:89986740G>A ENST00000405460.2 + 31 6929 c.6833G>A c.(6832-6834)gGa>gAa p.G2278E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2278 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) ACCATTAATGGACAGCTTGCT 0.488000 3 30 0 0 1 0 0 ZFP42 132625 broad.mit.edu 37 4 188924340 188924340 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:188924340G>A ENST00000326866.4 + 4 787 c.379G>A c.(379-381)Gta>Ata p.V127I ZFP42_ENST00000509524.1_Missense_Mutation_p.V127I NM_174900.3 NP_777560.2 Q96MM3 ZFP42_HUMAN ZFP42 zinc finger protein 127 female gonad development|male gonad development|meiosis cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V127L(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227) OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157) GAAAAAAGGGGTAAAGAAAGA 0.418000 8 108 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46750981 46750981 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:46750981G>A ENST00000311907.5 + 12 1580 c.1524G>A c.(1522-1524)aaG>aaA p.K508K F2_ENST00000530231.1_Silent_p.K469K NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 508 Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GCAACCTGAAGGAGACGTGGA 0.632000 7 89 0 0 1 0 0 KRTAP10-11 386678 broad.mit.edu 37 21 46066487 46066487 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr21:46066487G>A ENST00000334670.8 + 1 157 c.112G>A c.(112-114)Gcc>Acc p.A38T TSPEAR_ENST00000323084.4_Intron NM_198692.2 NP_941965.2 P60411 KR109_HUMAN keratin associated protein 10-11 38 25 X 5 AA repeats of C-C-X(3). keratin filament NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1) 12 CAGCTGCTGCGCCCCGGCCCC 0.697000 11 43 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 55922487 55922487 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:55922487C>T ENST00000288221.6 - 14 2749 c.2494G>A c.(2494-2496)Gaa>Aaa p.E832K NM_015576.1 NP_056391.1 O15083 ERC2_HUMAN ELKS/RAB6-interacting/CAST family member 2 832 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GCTTCTTTTTCGGCCAGGGAC 0.537000 31 94 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087949 49087949 + Missense_Mutation SNP G G A rs113480935 TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:49087949G>A ENST00000261900.3 - 9 1270 c.1048C>T c.(1048-1050)Cgg>Tgg p.R350W NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 350 cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 TCACTAGTCCGATGACCCTGA 0.463000 24 81 0 0 1 0 0 CAT 847 broad.mit.edu 37 11 34478338 34478338 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:34478338G>A ENST00000241052.4 + 8 1119 c.1030G>A c.(1030-1032)Gag>Aag p.E344K NM_001752.3 NP_001743.1 P04040 CATA_HUMAN catalase 344 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3) 26 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) ACCTGGCATTGAGGCCAGTCC 0.488000 3 24 0 0 1 0 0 MCF2L 23263 broad.mit.edu 37 13 113714963 113714963 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:113714963C>T ENST00000397030.1 + 5 562 c.525C>T c.(523-525)ttC>ttT p.F175F MCF2L_ENST00000375608.3_Silent_p.F172F|MCF2L_ENST00000375604.2_Silent_p.F199F|MCF2L_ENST00000423482.2_Silent_p.F140F|MCF2L_ENST00000375601.3_Silent_p.F146F|MCF2L_ENST00000442652.2_Silent_p.F172F|MCF2L_ENST00000434480.2_Silent_p.F148F|MCF2L_ENST00000375597.4_Silent_p.F140F|MCF2L_ENST00000421756.1_Silent_p.F146F|MCF2L_ENST00000535094.2_Silent_p.F142F O15068 MCF2L_HUMAN MCF.2 cell line derived transforming sequence-like 172 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane Rho guanyl-nucleotide exchange factor activity kidney(1)|large_intestine(5)|ovary(1)|stomach(1) 8 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188) CGGGTTTTTTCCAAAGGACTC 0.562000 4 43 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028583 37028583 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:37028583C>T ENST00000358047.3 + 1 2152 c.2100C>T c.(2098-2100)tcC>tcT p.S700S NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 700 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CTGGAGTGTCCCGTCTCCACC 0.652000 14 34 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70255187 70255187 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr7:70255187G>A ENST00000342771.4 + 19 3306 c.2985G>A c.(2983-2985)gaG>gaA p.E995E AUTS2_ENST00000406775.2_Silent_p.E971E NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 995 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) TGCCTCCAGAGGCCCCGCAGA 0.697000 6 24 0 0 1 0 0 MED24 9862 broad.mit.edu 37 17 38185157 38185157 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:38185157G>A ENST00000394126.1 - 13 1824 c.1406C>T c.(1405-1407)tCc>tTc p.S469F MED24_ENST00000394128.2_Missense_Mutation_p.S444F|MED24_ENST00000394127.2_Missense_Mutation_p.S431F|MED24_ENST00000356271.3_Missense_Mutation_p.S431F|MED24_ENST00000501516.3_Missense_Mutation_p.S463F O75448 MED24_HUMAN mediator complex subunit 24 444 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|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 autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 41 Colorectal(19;0.000442) ACTCTTCCCGGACAGCATGTG 0.582000 10 52 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3436092 3436092 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:3436092C>T ENST00000301365.4 - 8 1055 c.924G>A c.(922-924)gaG>gaA p.E308E TRPV3_ENST00000572519.1_Silent_p.E308E|TRPV3_ENST00000576742.1_Silent_p.E308E Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 308 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) TCTTGAAGTCCTCGGCCACGG 0.582000 4 40 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183675897 183675897 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr4:183675897C>T ENST00000511685.1 + 22 4500 c.4377C>T c.(4375-4377)taC>taT p.Y1459Y TENM3_ENST00000406950.2_Silent_p.Y1459Y|TENM3_ENST00000502950.1_3'UTR teneurin transmembrane protein 3 GTGACTGTTACCAGAGTGGAG 0.488000 25 52 0 0 1 0 0 MAP2K2 5605 broad.mit.edu 37 19 4117584 4117584 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:4117584G>A ENST00000262948.5 - 2 389 c.136C>T c.(136-138)Ctt>Ttt p.L46F MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR NM_030662.3 NP_109587.1 P36507 MP2K2_HUMAN mitogen-activated protein kinase kinase 2 46 activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|extracellular region ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTCGTCAAGTTCCAGCTCC 0.572000 11 69 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2415763 2415763 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:2415763G>A ENST00000332578.3 + 10 1567 c.1567G>A c.(1567-1569)Gaa>Aaa p.E523K NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 523 Peptidase S1 2. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAGCCTGAAGGAAGGGTCCCG 0.677000 17 32 0 0 1 0 0 IL32 9235 broad.mit.edu 37 16 3117607 3117607 + Missense_Mutation SNP G G T rs145687578 byFrequency TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:3117607G>T ENST00000525643.2 + 4 439 c.107G>T c.(106-108)cGt>cTt p.R36L IL32_ENST00000534507.1_Missense_Mutation_p.R82L|IL32_ENST00000008180.9_Intron|IL32_ENST00000396890.2_Missense_Mutation_p.R82L|IL32_ENST00000551513.1_Missense_Mutation_p.R82L|IL32_ENST00000531965.1_Missense_Mutation_p.R26L|IL32_ENST00000530538.2_Missense_Mutation_p.R36L|IL32_ENST00000552356.1_Intron|IL32_ENST00000551122.1_Missense_Mutation_p.R36L|IL32_ENST00000549213.1_Missense_Mutation_p.R36L|IL32_ENST00000382213.3_Missense_Mutation_p.R36L|IL32_ENST00000440815.3_Missense_Mutation_p.R36L|IL32_ENST00000530890.1_Intron|IL32_ENST00000396887.3_Missense_Mutation_p.R36L|IL32_ENST00000548246.1_Intron|IL32_ENST00000548652.1_Missense_Mutation_p.R36L|IL32_ENST00000444393.3_Missense_Mutation_p.R36L|IL32_ENST00000552936.1_Missense_Mutation_p.R60L|IL32_ENST00000528163.2_Missense_Mutation_p.R36L|IL32_ENST00000533097.2_Missense_Mutation_p.R36L|IL32_ENST00000548476.1_Missense_Mutation_p.R82L|IL32_ENST00000552664.1_Missense_Mutation_p.R36L|IL32_ENST00000526464.2_Missense_Mutation_p.R36L|IL32_ENST00000325568.5_Missense_Mutation_p.R36L|IL32_ENST00000529699.1_Missense_Mutation_p.R36L|IL32_ENST00000529550.1_Missense_Mutation_p.R36L P24001 IL32_HUMAN interleukin 32 82 cell adhesion|defense response|immune response extracellular space cytokine activity breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 15 GAATCAGGACGTGGACAGGTG 0.557000 14 87 0.000308642 0.000309848 1 1 0 MUC16 94025 broad.mit.edu 37 19 9069874 9069874 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:9069874C>T ENST00000397910.4 - 3 17775 c.17572G>A c.(17572-17574)Gaa>Aaa p.E5858K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5860 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATGGCCATTTCTGTGGATCCT 0.493000 24 112 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10647549 10647549 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:10647549C>T ENST00000547195.1 - 8 1559 c.1059G>A c.(1057-1059)caG>caA p.Q353Q MRVI1_ENST00000424001.1_Silent_p.Q129Q|MRVI1_ENST00000436272.1_Silent_p.Q417Q|MRVI1_ENST00000527509.2_Silent_p.Q353Q|MRVI1_ENST00000552103.1_Silent_p.Q353Q|MRVI1_ENST00000531107.1_Silent_p.Q436Q|MRVI1_ENST00000545852.1_Silent_p.Q129Q|MRVI1_ENST00000421747.1_Silent_p.Q435Q|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000558540.1_Silent_p.Q129Q|MRVI1_ENST00000423302.2_Silent_p.Q444Q|MRVI1_ENST00000534266.2_Silent_p.Q129Q NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 417 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TCCGCACGGGCTGCACTTGTA 0.597000 6 18 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28196592 28196592 + Splice_Site SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:28196592C>T ENST00000305242.5 - 17 2702 c.2610_splice c.e17+1 p.K870_splice ARMC4_ENST00000537576.1_Splice_Site_p.K562_splice|ARMC4_ENST00000545014.1_Splice_Site_p.K395_splice NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 870 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CCGTTCTTACCTTTGCATTTT 0.438000 4 21 0 0 1 0 0 P4HA2 8974 broad.mit.edu 37 5 131543412 131543412 + Missense_Mutation SNP C C T rs141239435 TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:131543412C>T ENST00000401867.1 - 9 1637 c.1069G>A c.(1069-1071)Gca>Aca p.A357T P4HA2_ENST00000360568.3_Missense_Mutation_p.A357T|P4HA2_ENST00000166534.4_Missense_Mutation_p.A357T|P4HA2_ENST00000379086.1_Missense_Mutation_p.A357T|P4HA2_ENST00000379100.2_Missense_Mutation_p.A357T|P4HA2_ENST00000379104.2_Missense_Mutation_p.A357T O15460 P4HA2_HUMAN prolyl 4-hydroxylase, alpha polypeptide II 357 endoplasmic reticulum lumen electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(142;0.103)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Proline(DB00172)|Succinic acid(DB00139) TTAGGTTTTGCGATCTCCTTG 0.517000 4 61 0 0 1 0 0 BTRC 8945 broad.mit.edu 37 10 103298056 103298056 + Silent SNP T T A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:103298056T>A ENST00000370187.3 + 13 1702 c.1584T>A c.(1582-1584)atT>atA p.I528I BTRC_ENST00000393441.4_Silent_p.I487I|BTRC_ENST00000408038.2_Silent_p.I492I|BTRC_ENST00000493877.1_3'UTR NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 528 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) TTAGAAAAATTAAAGTGTGGG 0.423000 5 62 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95719963 95719963 + RNA SNP A A T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:95719963A>T ENST00000480546.1 - 0 1334 NR_002319.2 GAATCTTCTTAAATACCGTGT 0.498000 8 68 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175372465 175372465 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:175372465C>T ENST00000367674.1 - 4 1495 c.787G>A c.(787-789)Gaa>Aaa p.E263K TNR_ENST00000263525.2_Missense_Mutation_p.E263K NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 263 Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.E263K(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) CACCTCAGTTCCCTGCAGTCC 0.637000 9 37 0 0 1 0 0 CCNB3 85417 broad.mit.edu 37 X 50089666 50089666 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:50089666C>T ENST00000376042.1 + 10 3968 c.3670C>T c.(3670-3672)Cgt>Tgt p.R1224C CCNB3_ENST00000376038.1_Missense_Mutation_p.R120C|CCNB3_ENST00000348603.2_Missense_Mutation_p.R120C|CCNB3_ENST00000276014.7_Missense_Mutation_p.R1224C Q8WWL7 CCNB3_HUMAN cyclin B3 1224 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) CAACTCACCTCGTGTGGATGA 0.463000 15 32 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55539276 55539276 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:55539276C>T ENST00000219070.4 + 13 2414 c.1905C>T c.(1903-1905)gcC>gcT p.A635A MMP2_ENST00000543485.1_Silent_p.A559A|MMP2_ENST00000437642.2_Silent_p.A585A|MMP2_ENST00000570308.1_Silent_p.A559A NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 635 Hemopexin-like 4.|Required for inhibitor TIMP2 binding. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) TCAAGGGTGCCTATTACCTGA 0.527000 25 97 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38690878 38690878 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:38690878C>T ENST00000449981.2 + 2 402 c.293C>T c.(292-294)tCg>tTg p.S98L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCAGTGATTTCGGAAGTGCTG 0.502000 13 57 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152280647 152280647 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:152280647G>A ENST00000368799.1 - 3 6750 c.6715C>T c.(6715-6717)Cgg>Tgg p.R2239W FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2239 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGGATCCCCGGGGCCTGCTT 0.577000 Ichthyosis 45 159 0 0 1 0 0 ANKRD44 91526 broad.mit.edu 37 2 197990618 197990618 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:197990618G>A ENST00000328737.2 - 5 406 c.330C>T c.(328-330)gtC>gtT p.V110V ANKRD44_ENST00000337207.5_Silent_p.V110V|ANKRD44_ENST00000450567.1_Silent_p.V110V|ANKRD44_ENST00000409153.1_Silent_p.V135V|ANKRD44_ENST00000282272.8_Silent_p.V127V|ANKRD44_ENST00000409919.1_Silent_p.V135V|ANKRD44_ENST00000539527.1_Silent_p.V63V Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 135 protein binding NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 45 OV - Ovarian serous cystadenocarcinoma(117;0.246) CTCGGTCGGAGACATTGACAC 0.557000 21 102 0 0 1 0 0 TRPV3 162514 broad.mit.edu 37 17 3436091 3436091 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:3436091C>T ENST00000301365.4 - 8 1056 c.925G>A c.(925-927)Gac>Aac p.D309N TRPV3_ENST00000572519.1_Missense_Mutation_p.D309N|TRPV3_ENST00000576742.1_Missense_Mutation_p.D309N Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, subfamily V, member 3 309 integral to membrane calcium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 35 Menthol(DB00825) GTCTTGAAGTCCTCGGCCACG 0.577000 4 39 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20681305 20681305 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr16:20681305C>T ENST00000307493.4 - 5 823 c.756G>A c.(754-756)agG>agA p.R252R ACSM1_ENST00000520010.1_Silent_p.R252R|ACSM1_ENST00000219151.4_5'UTR NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 252 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TCCGTAATTTCCTACTAACTC 0.512000 4 16 0 0 1 0 0 LY86 9450 broad.mit.edu 37 6 6626623 6626623 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:6626623C>T ENST00000379953.2 + 4 673 c.321C>T c.(319-321)ccC>ccT p.P107P LY86_ENST00000230568.4_Silent_p.P107P O95711 LY86_HUMAN lymphocyte antigen 86 107 apoptosis|cell proliferation|humoral immune response|inflammatory response|innate immune response extracellular space|plasma membrane large_intestine(2)|lung(6) 8 Ovarian(93;0.0377) CGGCTCTGCCCAAGTTTTCTT 0.488000 13 38 0 0 1 0 0 DMBT1 1755 broad.mit.edu 37 10 124361487 124361487 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:124361487G>A ENST00000368909.3 + 29 3624 c.3518G>A c.(3517-3519)gGa>gAa p.G1173E DMBT1_ENST00000368955.3_Missense_Mutation_p.G1163E|DMBT1_ENST00000330163.4_Missense_Mutation_p.G674E|DMBT1_ENST00000344338.3_Missense_Mutation_p.G1163E|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Missense_Mutation_p.G674E|DMBT1_ENST00000338354.3_Missense_Mutation_p.G1173E NM_007329.2 NP_015568.2 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 1173 SRCR 9. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TCAGCCCCAGGAAATGCCCGG 0.602000 22 77 0 0 1 0 0 LRRC31 79782 broad.mit.edu 37 3 169569529 169569529 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr3:169569529G>A ENST00000316428.5 - 7 1094 c.1037C>T c.(1036-1038)tCa>tTa p.S346L LRRC31_ENST00000523069.1_Missense_Mutation_p.S346L|LRRC31_ENST00000264676.5_Missense_Mutation_p.S290L NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 346 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTTGTTGGCTGATAAATCCAA 0.393000 11 47 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123844357 123844357 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:123844357C>T ENST00000369005.1 + 4 2682 c.2342C>T c.(2341-2343)cCc>cTc p.P781L TACC2_ENST00000453444.2_Missense_Mutation_p.P781L|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.P781L|TACC2_ENST00000515273.1_Missense_Mutation_p.P781L|TACC2_ENST00000334433.3_Missense_Mutation_p.P781L|TACC2_ENST00000358010.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 781 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTGCCACATCCCCCCCAGGGG 0.637000 5 50 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74004825 74004825 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr17:74004825C>T ENST00000301607.3 - 22 4714 c.4461G>A c.(4459-4461)caG>caA p.Q1487Q EVPL_ENST00000586740.1_Silent_p.Q1509Q NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1487 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGTCTTCTCCTGGTCCAGGT 0.572000 14 93 0 0 1 0 0 PPIL6 285755 broad.mit.edu 37 6 109748297 109748297 + Splice_Site SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:109748297C>T ENST00000521072.2 - 4 1063 c.483_splice c.e4+1 p.E161_splice PPIL6_ENST00000524031.1_5'UTR|PPIL6_ENST00000424445.2_Splice_Site_p.E129_splice|PPIL6_ENST00000440797.2_Splice_Site_p.E161_splice NM_173672.4 NP_775943.1 Q8IXY8 PPIL6_HUMAN peptidylprolyl isomerase (cyclophilin)-like 6 161 PPIase cyclophilin-type. protein folding peptidyl-prolyl cis-trans isomerase activity large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548) Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259) AAAGTATCACCTCAAAAATCA 0.308000 8 16 0 0 1 0 0 C1orf105 92346 broad.mit.edu 37 1 172434464 172434464 + Nonsense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:172434464C>T ENST00000367727.4 + 6 565 c.367C>T c.(367-369)Cag>Tag p.Q123* C1orf105_ENST00000367725.4_Nonsense_Mutation_p.Q113*|C1orf105_ENST00000367726.1_3'UTR NM_139240.3 NP_640333.3 O95561 CA105_HUMAN chromosome 1 open reading frame 105 123 large_intestine(1)|lung(12)|prostate(1)|skin(1) 15 ACCCAAATTCCAGACTACACC 0.373000 14 39 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45397874 45397874 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr15:45397874G>A ENST00000389039.6 - 18 2686 c.2301C>T c.(2299-2301)atC>atT p.I767I DUOX2_ENST00000603300.1_Silent_p.I767I Q9NRD8 DUOX2_HUMAN dual oxidase 2 767 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGATCTCCAGGATGCGTTCCC 0.562000 17 61 0 0 1 0 0 APLP1 333 broad.mit.edu 37 19 36362522 36362522 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:36362522C>T ENST00000221891.4 + 5 738 c.546C>T c.(544-546)agC>agT p.S182S APLP1_ENST00000586861.1_Silent_p.S176S|APLP1_ENST00000537454.2_Silent_p.S143S NM_001024807.1|NM_005166.3 NP_001019978.1|NP_005157.1 P51693 APLP1_HUMAN amyloid beta (A4) precursor-like protein 1 182 apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 33 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGGCCTGCAGCTCCCAGGGCC 0.642000 14 52 0 0 1 0 0 BCL2A1 597 broad.mit.edu 37 15 80263245 80263245 + Missense_Mutation SNP G G T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr15:80263245G>T ENST00000267953.3 - 1 543 c.217C>A c.(217-219)Caa>Aaa p.Q73K BCL2A1_ENST00000335661.6_Missense_Mutation_p.Q73K NM_004049.3 NP_004040.1 Q16548 B2LA1_HUMAN BCL2-related protein A1 73 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 TCCATCACTTGGTTGAATAGT 0.393000 29 120 1.08312e-15 1.11345e-15 1 1 0 PSG9 5678 broad.mit.edu 37 19 43762228 43762228 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:43762228G>A ENST00000244293.7 - 4 1156 c.1090C>T c.(1090-1092)Ctc>Ttc p.L364F PSG9_ENST00000270077.3_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.L271F|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000291752.5_Intron Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 0 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTCAGGAGGAGAATTTGGGAT 0.448000 9 12 0 0 1 0 0 IFT43 112752 broad.mit.edu 37 14 76488735 76488735 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:76488735G>A ENST00000556742.1 + 3 216 c.213G>A c.(211-213)tcG>tcA p.S71S IFT43_ENST00000314067.6_Silent_p.S71S|IFT43_ENST00000238628.6_Silent_p.S71S|IFT43_ENST00000553338.1_3'UTR NM_001255995.1 NP_001242924.1 Q96FT9 IFT43_HUMAN intraflagellar transport 43 homolog (Chlamydomonas) 71 cilium morphogenesis|intraflagellar retrograde transport p.S71S(1) endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 TGAAGGCTTCGAAGTGAGTAC 0.478000 14 87 0 0 1 0 0 CHURC1 91612 broad.mit.edu 37 14 65390803 65390803 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr14:65390803C>T ENST00000607599.1 + 2 269 c.215C>T c.(214-216)tCc>tTc p.S72F CHURC1_ENST00000549115.1_Missense_Mutation_p.S72F|CHURC1_ENST00000359118.2_Missense_Mutation_p.S45F|CHURC1-FNTB_ENST00000542227.1_5'UTR|CHURC1_ENST00000548752.2_Missense_Mutation_p.S72F|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.S45F|CHURC1_ENST00000552002.2_Missense_Mutation_p.S45F NM_001204063.1|NM_145165.3 NP_001190992.1|NP_660148.3 churchill domain containing 1 breast(1)|pancreas(1) 2 all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976) ACAAACAAATCCTTGAAAGAA 0.393000 8 52 0 0 1 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28294491 28294491 + Missense_Mutation SNP T T C TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:28294491T>C ENST00000414429.1 - 8 1576 c.673A>G c.(673-675)Aag>Gag p.K225E ZSCAN31_ENST00000439158.1_Missense_Mutation_p.K225E|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.K225E|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.K225E|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.K66E zinc finger and SCAN domain containing 31 TTTTCTGCCTTGCTGTCTCGT 0.428000 16 89 0 0 1 0 0 ALX3 257 broad.mit.edu 37 1 110607257 110607257 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr1:110607257G>A ENST00000369792.4 - 2 633 c.546C>T c.(544-546)gcC>gcT p.A182A NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 182 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) GCTGCTCCCGGGCATACACAT 0.592000 7 31 0 0 1 0 0 CAPZA3 93661 broad.mit.edu 37 12 18891609 18891609 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr12:18891609G>A ENST00000317658.3 + 1 565 c.407G>A c.(406-408)gGa>gAa p.G136E NM_033328.2 NP_201585.1 Q96KX2 CAZA3_HUMAN capping protein (actin filament) muscle Z-line, alpha 3 136 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding p.G136A(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1) 19 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TATCCAAAAGGAAATTGCAAC 0.403000 6 49 0 0 1 0 0 CXorf36 79742 broad.mit.edu 37 X 45051207 45051207 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chrX:45051207G>A ENST00000398000.2 - 2 361 c.287C>T c.(286-288)tCt>tTt p.S96F CXorf36_ENST00000377934.4_Missense_Mutation_p.S96F|RP11-342D14.1_ENST00000450527.1_RNA|RP11-342D14.1_ENST00000438181.1_RNA NM_176819.3 NP_789789.2 Q9H7Y0 CX036_HUMAN chromosome X open reading frame 36 96 extracellular region endometrium(1)|large_intestine(2)|lung(4) 7 TGCAGGATAAGAAAGCAAGGA 0.483000 4 16 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76476288 76476288 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:76476288C>T ENST00000396423.2 + 10 1419 c.1295C>T c.(1294-1296)tCa>tTa p.S432L HNF4G_ENST00000354370.1_Missense_Mutation_p.S395L NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 395 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AACCAAGCATCAGTCATTTCA 0.413000 22 92 0 0 1 0 0 OCA2 4948 broad.mit.edu 37 15 28202788 28202788 + Missense_Mutation SNP C C A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr15:28202788C>A ENST00000354638.3 - 16 1885 c.1730G>T c.(1729-1731)gGg>gTg p.G577V OCA2_ENST00000353809.5_Missense_Mutation_p.G553V|OCA2_ENST00000382996.2_Missense_Mutation_p.G577V NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 577 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CAGCACCTTCCCCAGCAGCAG 0.657000 Oculocutaneous Albinism 9 44 5.68852e-11 5.82451e-11 1 1 0 SPEG 10290 broad.mit.edu 37 2 220331918 220331918 + Silent SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr2:220331918G>A ENST00000312358.7 + 10 3036 c.2904G>A c.(2902-2904)ctG>ctA p.L968L SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 968 Ig-like 4. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCCGGTCCCTGGCCGTGCTGG 0.677000 OREG0004000 type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 113 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676149 37676149 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:37676149G>A ENST00000532828.2 - 5 2541 c.2290C>T c.(2290-2292)Cat>Tat p.H764Y ZNF585B_ENST00000531805.1_Missense_Mutation_p.H709Y|ZNF585B_ENST00000312908.5_Missense_Mutation_p.H352Y|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 764 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGCTCTGATGAACACTGAAC 0.458000 8 80 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13443692 13443692 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:13443692G>A ENST00000360228.5 - 9 1245 c.1246C>T c.(1246-1248)Ccc>Tcc p.P416S CACNA1A_ENST00000573710.2_Missense_Mutation_p.P416S NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 416 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CCATCAAAGGGATGCCTCTGC 0.567000 3 26 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1279761 1279761 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr10:1279761G>A ENST00000381312.1 - 6 1713 c.1388C>T c.(1387-1389)tCg>tTg p.S463L ADARB2_ENST00000469464.1_5'UTR NM_018702.3 NP_061172.1 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 (non-functional) 463 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) CACGAATATCGATCGCTCTGA 0.527000 7 37 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73205311 73205311 + Silent SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr5:73205311C>T ENST00000545377.1 + 34 4412 c.4236C>T c.(4234-4236)ctC>ctT p.L1412L ARHGEF28_ENST00000512883.1_Silent_p.L332L|ARHGEF28_ENST00000296799.4_Silent_p.L1099L|ARHGEF28_ENST00000513042.2_Silent_p.L1412L|ARHGEF28_ENST00000426542.2_Silent_p.L1412L|ARHGEF28_ENST00000437974.1_Silent_p.L1412L|ARHGEF28_ENST00000287898.5_Silent_p.L1368L|ARHGEF28_ENST00000296794.6_Silent_p.L1412L NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GCCTGTCTCTCGGCCACTCTA 0.607000 4 12 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74799858 74799858 + Missense_Mutation SNP C C T TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr11:74799858C>T ENST00000305159.3 - 1 941 c.901G>A c.(901-903)Gat>Aat p.D301N NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 GCCTTTACATCCCTGTTTCTC 0.483000 14 58 0 0 1 0 0 XKR6 286046 broad.mit.edu 37 8 10756264 10756264 + Missense_Mutation SNP A A G TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr8:10756264A>G ENST00000416569.2 - 3 1150 c.1124T>C c.(1123-1125)tTt>tCt p.F375S XKR6_ENST00000304437.2_Missense_Mutation_p.F96S NM_173683.3 NP_775954.2 Q5GH73 XKR6_HUMAN XK, Kell blood group complex subunit-related family, member 6 375 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3) 31 Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555) AAAGAGGGCAAAAGAGATCAC 0.547000 4 46 0 0 1 0 0 NDUFB7 4713 broad.mit.edu 37 19 14677067 14677067 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr19:14677067G>A ENST00000215565.2 - 3 353 c.292C>T c.(292-294)Cgc>Tgc p.R98C NM_004146.5 NP_004137.2 P17568 NDUB7_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 7, 18kDa 98 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial intermembrane space|mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity endometrium(3)|large_intestine(2)|lung(2)|ovary(1) 8 NADH(DB00157) TCCTTCATGCGCATCACATAG 0.667000 3 39 0 0 1 0 0 PLCB2 5330 broad.mit.edu 37 15 40582260 40582260 + Missense_Mutation SNP G G A TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr15:40582260G>A ENST00000260402.3 - 30 3482 c.3233C>T c.(3232-3234)tCc>tTc p.S1078F PLCB2_ENST00000456256.2_Missense_Mutation_p.S1063F|PLCB2_ENST00000557821.1_Missense_Mutation_p.S1074F NM_004573.2 NP_004564.2 Q00722 PLCB2_HUMAN phospholipase C, beta 2 1078 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3) 39 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CTGGATGTGGGAGTTGTTAAT 0.468000 6 43 0 0 1 0 0 HLA-V 352962 broad.mit.edu 37 6 29760353 29760373 + RNA DEL GCGGGCGCCGTGGATGGAGCA GCGGGCGCCGTGGATGGAGCA - rs74661005 by1000genomes TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:29760353_29760373delGCGGGCGCCGTGGATGGAGCA ENST00000457107.1 + 0 223_243 GGATGGAGCCGCGGGCGCCGTGGATGGAGCAGGAGGGGCCG 0.674 3 4 --- --- --- --- DST 667 broad.mit.edu 37 6 56501426 56501426 + Frame_Shift_Del DEL G G - TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr6:56501426delG ENST00000370754.5 - 22 2889 c.2890delC c.(2890-2892)agfs p.Q964fs DST_ENST00000370788.2_Frame_Shift_Del_p.Q786fs|DST_ENST00000370769.4_Frame_Shift_Del_p.Q786fs|DST_ENST00000421834.2_Frame_Shift_Del_p.Q786fs|DST_ENST00000361203.3_Frame_Shift_Del_p.Q786fs|DST_ENST00000244364.6_Frame_Shift_Del_p.Q460fs|DST_ENST00000312431.6_Frame_Shift_Del_p.Q786fs|DST_ENST00000370765.6_Frame_Shift_Del_p.Q460fs|DST_ENST00000446842.2_Frame_Shift_Del_p.Q460fs|DST_ENST00000518935.1_Frame_Shift_Del_p.Q460fs Q03001 DYST_HUMAN dystonin 786 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CAGCTCCACTGCGTCTGCATT 0.448 19 82 --- --- --- --- RFC3 5983 broad.mit.edu 37 13 34398063 34398063 + Frame_Shift_Del DEL A A - TCGA-FS-A4F8-06A-11D-A25O-08 TCGA-FS-A4F8-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx A893974E-B95F-4FD4-952A-6500E12F7663 B0911371-FC4D-4045-B78E-769136C7A6B0 g.chr13:34398063delA ENST00000380071.3 + 3 365 c.235delA c.(235-237)aafs p.K81fs RFC3_ENST00000434425.1_Frame_Shift_Del_p.K81fs NM_002915.3 NP_002906.1 P40938 RFC3_HUMAN replication factor C (activator 1) 3, 38kDa 81 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding lung(2)|skin(1) 3 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GACTCCATCTAAAAAAAAAAT 0.269 5 8 --- --- --- ---