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 ZNF557 79230 broad.mit.edu 37 19 7075115 7075115 + Splice_Site SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:7075115C>T ENST00000414706.1 + 3 503 c.31_splice c.e3+1 p.A10_splice ZNF557_ENST00000252840.6_Splice_Site_p.A10_splice|ZNF557_ENST00000439035.2_Splice_Site_p.A10_splice NM_001044387.1|NM_001044388.1|NM_024341.2 NP_001037852.1|NP_001037853.1|NP_077317.2 Q8N988 ZN557_HUMAN zinc finger protein 557 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 Lung(535;0.179) CCCCAACTGCCGGTGAGTCAT 0.642000 9 126 0 0 0.411799 0 0 ECSIT 51295 broad.mit.edu 37 19 11624790 11624790 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:11624790G>A ENST00000270517.7 - 3 478 c.343C>T c.(343-345)Cgc>Tgc p.R115C ECSIT_ENST00000417981.2_Intron|ECSIT_ENST00000588998.1_Intron|ECSIT_ENST00000252440.7_Missense_Mutation_p.R115C|ECSIT_ENST00000592312.1_5'UTR|ECSIT_ENST00000591104.1_Missense_Mutation_p.R115C NM_016581.4 NP_057665.2 Q9BQ95 ECSIT_HUMAN ECSIT signalling integrator 115 innate immune response|regulation of oxidoreductase activity mitochondrion oxidoreductase activity, acting on NADH or NADPH|protein binding p.R115C(1) kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 11 CGCATCTTGCGCAGGGCCAGG 0.592000 6 111 0 0 0.307466 0 0 KCNH5 27133 broad.mit.edu 37 14 63175050 63175050 + Nonsense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:63175050G>A ENST00000322893.7 - 11 2411 c.2143C>T c.(2143-2145)Cag>Tag p.Q715* KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 715 Calmodulin-binding (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.Q715*(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TCCTTCTGCTGCTTGAACTTC 0.562000 14 208 0 0 0.457914 0 0 MUC16 94025 broad.mit.edu 37 19 8976368 8976368 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:8976368C>A ENST00000397910.4 - 75 42663 c.42460G>T c.(42460-42462)Ggc>Tgc p.G14154C MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 14185 SEA 14. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.G14154C(2) 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 AGCCCGGGGCCCACAGGGTCA 0.597000 10 58 1.08611e-07 1.20165e-07 0.387290 1 0 SERPINA10 51156 broad.mit.edu 37 14 94756667 94756667 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:94756667T>C ENST00000554723.1 - 2 802 c.384A>G c.(382-384)cgA>cgG p.R128R SERPINA10_ENST00000554173.1_Silent_p.R88R|SERPINA10_ENST00000261994.4_Silent_p.R88R|SERPINA10_ENST00000393096.1_Silent_p.R88R Q9UK55 ZPI_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 88 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity p.R88R(1) haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 33 all_cancers(154;0.105) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) TGGAGATCTTTCGCAGCAGGC 0.567000 14 60 0 0 0.435327 0 0 PXDNL 137902 broad.mit.edu 37 8 52321017 52321017 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:52321017C>T ENST00000356297.4 - 17 3267 c.3167G>A c.(3166-3168)gGc>gAc p.G1056D PXDNL_ENST00000543296.1_Missense_Mutation_p.G1056D NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1056 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TAATGTGTGGCCAAATCTAAA 0.493000 4 40 0 0 0.150653 0 0 ANO9 338440 broad.mit.edu 37 11 420567 420567 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:420567G>A ENST00000332826.6 - 19 1766 c.1682C>T c.(1681-1683)gCg>gTg p.A561V NM_001012302.2 NP_001012302.2 A1A5B4 ANO9_HUMAN anoctamin 9 561 chloride channel complex chloride channel activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4) 21 GAGCAGCGGCGCCAGCGGGAA 0.687000 5 42 0 0 0.248553 0 0 ITGA11 22801 broad.mit.edu 37 15 68649516 68649516 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:68649516C>T ENST00000423218.2 - 7 817 c.722G>A c.(721-723)cGg>cAg p.R241Q ITGA11_ENST00000562826.1_5'UTR|ITGA11_ENST00000315757.7_Missense_Mutation_p.R241Q Q9UKX5 ITA11_HUMAN integrin, alpha 11 241 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity p.R241Q(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) AAATGCCGTCCGGGTCTCTGT 0.413000 23 82 0 0 0.681144 0 0 TBX18 9096 broad.mit.edu 37 6 85446602 85446602 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:85446602G>A ENST00000369663.5 - 8 1962 c.1625C>T c.(1624-1626)gCc>gTc p.A542V TBX18_ENST00000606784.1_Intron NM_001080508.1 NP_001073977.1 O95935 TBX18_HUMAN T-box 18 542 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3) 61 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) CTCAGGACTGGCAGCCAGTTT 0.502000 6 225 0 0 0.248553 0 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 109 0 0 0.278610 0 0 TIPARP 25976 broad.mit.edu 37 3 156395883 156395883 + Nonsense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:156395883C>T ENST00000461166.1 + 2 985 c.397C>T c.(397-399)Cga>Tga p.R133* TIPARP_ENST00000542783.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000486483.1_Nonsense_Mutation_p.R133*|TIPARP_ENST00000295924.7_Nonsense_Mutation_p.R133* NM_001184717.1 NP_001171646.1 Q7Z3E1 PARPT_HUMAN TCDD-inducible poly(ADP-ribose) polymerase 133 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding p.R133*(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) AGCTCCAGAACGAGTGGTTCC 0.498000 4 158 0 0 0.150653 0 0 SLC5A10 125206 broad.mit.edu 37 17 18872377 18872377 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:18872377G>A ENST00000317977.6 + 6 869 c.298G>A c.(298-300)Gcg>Acg p.A100T SLC5A10_ENST00000395643.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395645.3_Missense_Mutation_p.A156T|SLC5A10_ENST00000395647.2_Missense_Mutation_p.A156T|SLC5A10_ENST00000395642.1_Missense_Mutation_p.A100T|SLC5A10_ENST00000417251.2_Missense_Mutation_p.A156T|FAM83G_ENST00000388995.6_3'UTR A0PJK1 SC5AA_HUMAN solute carrier family 5 (sodium/sugar cotransporter), member 10 156 sodium ion transport|transmembrane transport integral to membrane transporter activity p.A156T(1) central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 GGACCTGTACGCGGGGGCTCT 0.612000 9 67 0 0 0.335167 0 0 CYTH3 9265 broad.mit.edu 37 7 6210514 6210514 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:6210514C>T ENST00000350796.3 - 8 794 c.658G>A c.(658-660)Gcc>Acc p.A220T CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.A135T NM_004227.3 NP_004218.1 O43739 CYH3_HUMAN cytohesin 3 220 regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|membrane fraction|plasma membrane 1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1) 19 CGGTTCATGGCGATGAACCGT 0.637000 7 32 0 0 0.278610 0 0 GBP3 2635 broad.mit.edu 37 1 89480252 89480252 + Nonsense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:89480252G>A ENST00000370481.4 - 4 626 c.406C>T c.(406-408)Cag>Tag p.Q136* NM_018284.2 NP_060754.2 Q9H0R5 GBP3_HUMAN guanylate binding protein 3 136 integral to membrane GTP binding|GTPase activity p.Q136*(1) breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(277;0.123) all cancers(265;0.0103)|Epithelial(280;0.0293) ATAGCCTGCTGGTTGATGGTT 0.512000 24 158 0 0 0.693898 0 0 MFAP5 8076 broad.mit.edu 37 12 8804283 8804283 + Silent SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:8804283G>T ENST00000359478.2 - 7 409 c.222C>A c.(220-222)tcC>tcA p.S74S MFAP5_ENST00000543369.1_Intron|MFAP5_ENST00000396549.2_Intron|MFAP5_ENST00000540087.1_Intron|MFAP5_ENST00000433590.2_Intron|MFAP5_ENST00000535336.1_Intron NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 74 microfibril extracellular matrix structural constituent breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) TTTCACTGAGGGAGGCTGAAA 0.433000 8 167 1.58986e-06 1.71343e-06 0.361761 1 0 NUP188 23511 broad.mit.edu 37 9 131768055 131768055 + Splice_Site SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:131768055G>T ENST00000372577.2 + 41 4890 c.4869_splice c.e41+1 p.E1623_splice NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1623 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.E1623D(1) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 TGCTTGGAGAGGTAAGTTGGT 0.597000 18 296 3.32936e-07 3.62569e-07 0.539581 1 0 INADL 10207 broad.mit.edu 37 1 62393501 62393501 + Splice_Site SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:62393501C>T ENST00000371158.2 + 27 3784 c.3670_splice c.e27+1 p.Q1224_splice INADL_ENST00000316485.6_Splice_Site_p.Q1224_splice NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1224 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding p.Q1224*(1)|p.Q1224K(1) breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CTTTACCGACCGTGAGTGCCT 0.388000 5 47 0 0 0.184627 0 0 SORBS3 10174 broad.mit.edu 37 8 22415644 22415644 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:22415644C>T ENST00000240123.7 + 5 800 c.417C>T c.(415-417)agC>agT p.S139S SORBS3_ENST00000523402.1_Silent_p.S139S NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 139 SoHo. muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) GATCCCAGAGCGTTGACAGAC 0.512000 9 180 0 0 0.335167 0 0 KIAA0922 23240 broad.mit.edu 37 4 154502668 154502668 + Missense_Mutation SNP A A G rs147407649 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:154502668A>G ENST00000409959.3 + 9 897 c.848A>G c.(847-849)cAt>cGt p.H283R KIAA0922_ENST00000440693.1_Missense_Mutation_p.H283R|KIAA0922_ENST00000409663.3_Missense_Mutation_p.H283R NM_001131007.1 NP_001124479.1 A2VDJ0 T131L_HUMAN KIAA0922 283 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TTGTTAGATCATCTCTCTATT 0.323000 4 112 0 0 0.184627 0 0 NFE2L3 9603 broad.mit.edu 37 7 26225102 26225102 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:26225102G>A ENST00000056233.3 + 4 2043 c.1784G>A c.(1783-1785)tGt>tAt p.C595Y NM_004289.6 NP_004280.5 Q9Y4A8 NF2L3_HUMAN nuclear factor, erythroid 2-like 3 595 transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity p.C595Y(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7) 29 GCGCAGAACTGTCGTAAACGC 0.368000 4 73 0 0 0.150653 0 0 PTRF 284119 broad.mit.edu 37 17 40557266 40557266 + Silent SNP G G A rs137932986 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:40557266G>A ENST00000357037.5 - 2 1031 c.612C>T c.(610-612)gaC>gaT p.D204D NM_012232.5 NP_036364.2 Q6NZI2 PTRF_HUMAN polymerase I and transcript release factor 204 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm protein binding|rRNA primary transcript binding p.D204D(1) breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1) 17 all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134) BRCA - Breast invasive adenocarcinoma(366;0.193) CCACCGCCTCGTCCGACGAAA 0.672000 10 259 0 0 0.500413 0 0 LIG4 3981 broad.mit.edu 37 13 108861451 108861451 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr13:108861451C>T ENST00000356922.4 - 2 2438 c.2166G>A c.(2164-2166)aaG>aaA p.K722K LIG4_ENST00000442234.1_Silent_p.K722K|LIG4_ENST00000405925.1_Silent_p.K722K NM_002312.3|NM_206937.1 NP_002303.2|NP_996820.1 P49917 DNLI4_HUMAN ligase IV, DNA, ATP-dependent 722 BRCT 1. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding p.K722K(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) GCCATGCAGGCTTGACAACAT 0.398000 Non-homologous end-joining 11 124 0 0 0.361761 0 0 LRIT3 345193 broad.mit.edu 37 4 110791704 110791704 + Missense_Mutation SNP G G C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:110791704G>C ENST00000327908.3 + 4 2014 c.1250G>C c.(1249-1251)tGt>tCt p.C417S LRIT3_ENST00000409621.2_Missense_Mutation_p.C417S|LRIT3_ENST00000594814.1_Missense_Mutation_p.C600S|LRIT3_ENST00000379920.3_Missense_Mutation_p.C555S Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 555 integral to membrane cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1) 16 OV - Ovarian serous cystadenocarcinoma(123;0.0011) CCATTGATTTGTTTCTTGTTG 0.383000 7 101 0 0 0.278610 0 0 TIGD2 166815 broad.mit.edu 37 4 90034328 90034328 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:90034328G>A ENST00000317005.2 + 1 361 c.203G>A c.(202-204)cGt>cAt p.R68H NM_145715.2 NP_663761.1 Q4W5G0 TIGD2_HUMAN tigger transposable element derived 2 68 HTH CENPB-type. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding p.R68H(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 14 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;3.86e-05) GTATCCAAACGTAAATCTATG 0.378000 5 145 0 0 0.217242 0 0 SLC13A5 284111 broad.mit.edu 37 17 6606330 6606330 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:6606330G>A ENST00000433363.2 - 5 908 c.675C>T c.(673-675)acC>acT p.T225T SLC13A5_ENST00000381074.4_Silent_p.T182T|SLC13A5_ENST00000573648.1_Silent_p.T225T|SLC13A5_ENST00000293800.6_Silent_p.T208T NM_177550.3 NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 225 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 GTCCCGTCCCGGTCAGGGTGG 0.647000 5 170 0 0 0.217242 0 0 DLGAP2 9228 broad.mit.edu 37 8 1616604 1616604 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:1616604C>T ENST00000421627.2 + 6 1814 c.1680C>T c.(1678-1680)gaC>gaT p.D560D NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 639 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCACCCAGGACGCCTACCAGG 0.632000 4 20 0 0 0.184627 0 0 FAM214A 56204 broad.mit.edu 37 15 52970217 52970217 + Translation_Start_Site SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:52970217A>G ENST00000261844.7 - 2 154 c.2T>C c.(1-3)aTg>aCg p.M1T FAM214A_ENST00000562351.1_5'UTR NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 1 p.M1T(1) GTCTGGCTTCATTTTCACATC 0.453000 14 134 0 0 0.479597 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 4 111 0 0 0.278610 0 0 ADNP2 22850 broad.mit.edu 37 18 77896569 77896569 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:77896569T>C ENST00000262198.4 + 4 3728 c.3273T>C c.(3271-3273)ttT>ttC p.F1091F NM_014913.3 NP_055728.1 Q6IQ32 ADNP2_HUMAN ADNP homeobox 2 1091 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.F1091F(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) CTTCATTTTTTGGAAAAAGAA 0.308000 9 98 0 0 0.361761 0 0 DNAJB5 25822 broad.mit.edu 37 9 34993411 34993411 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:34993411C>T ENST00000541010.1 + 1 3193 c.181C>T c.(181-183)Cgg>Tgg p.R61W DNAJB5_ENST00000312316.5_Missense_Mutation_p.R61W|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R95W|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R61W|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R133W|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R175W O75953 DNJB5_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 5 61 J. protein folding|response to unfolded protein heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(32;0.00575) CCCCAAGAAACGGGGCCTGTA 0.552000 5 301 0 0 0.184627 0 0 SPATA31A6 389730 broad.mit.edu 37 9 43625067 43625067 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:43625067G>A ENST00000332857.6 - 4 3648 c.3620C>T c.(3619-3621)aCg>aTg p.T1207M NM_001145196.1 NP_001138668.1 SPATA31 subfamily A, member 6 p.T1207M(1) TCCAACTGCCGTCATGAGACC 0.468000 31 438 0 0 0.779181 0 0 C20orf96 140680 broad.mit.edu 37 20 264701 264701 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr20:264701G>A ENST00000360321.2 - 4 347 c.209C>T c.(208-210)aCg>aTg p.T70M C20orf96_ENST00000382369.5_Missense_Mutation_p.T35M|C20orf96_ENST00000400269.3_Missense_Mutation_p.T12M NM_080571.1|NM_153269.2 NP_542138.1|NP_695001.2 Q9NUD7 CT096_HUMAN chromosome 20 open reading frame 96 70 p.T70M(1) endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 12 all_cancers(10;0.00959)|Lung NSC(37;0.227) OV - Ovarian serous cystadenocarcinoma(29;0.149) TGTCACCACCGTAGTGGGCTT 0.537000 10 104 0 0 0.387290 0 0 KIF25 0 broad.mit.edu 37 6 168443358 168443358 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:168443358G>A ENST00000443060.2 + 9 1338 c.947G>A c.(946-948)cGg>cAg p.R316Q KIF25_ENST00000354419.2_Missense_Mutation_p.R316Q|KIF25_ENST00000351261.3_Intron Q9UIL4 KIF25_HUMAN kinesin family member 25 316 microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity p.R316Q(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 29 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) GCCCCGTACCGGAACAGCAGG 0.652000 7 157 0 0 0.307466 0 0 DHRSX 207063 broad.mit.edu 37 X 2184932 2184932 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chrX:2184932C>T ENST00000334651.5 - 5 497 c.445G>A c.(445-447)Ggc>Agc p.G149S DHRSX_ENST00000464935.1_5'UTR NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 149 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TAGTTCAGGCCGAAATGTTCT 0.527000 23 253 0 0 0.667858 0 0 SV2A 0 broad.mit.edu 37 1 149885321 149885321 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:149885321C>T ENST00000369146.3 - 2 562 c.72G>A c.(70-72)aaG>aaA p.K24K SV2A_ENST00000369145.1_Silent_p.K24K NM_014849.3 NP_055664.3 Q7L0J3 SV2A_HUMAN synaptic vesicle glycoprotein 2A 24 Interaction with SYT1 (By similarity). neurotransmitter transport cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane transmembrane transporter activity p.K24K(1) breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2) 55 Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) Levetiracetam(DB01202) TGGCCGCATGCTTTTTGACTT 0.547000 36 133 0 0 0.812448 0 0 ADAR 103 broad.mit.edu 37 1 154560617 154560617 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:154560617G>A ENST00000368474.4 - 11 3202 c.3003C>T c.(3001-3003)cgC>cgT p.R1001R ADAR_ENST00000368471.3_Silent_p.R706R|ADAR_ENST00000292205.5_Silent_p.R1044R NM_001111.4|NM_015840.3|NM_015841.3 NP_001102.2|NP_056655.2|NP_056656.2 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 1001 A to I editase. adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CCACCTTGGTGCGGAGCTTTC 0.557000 6 437 0 0 0.248553 0 0 WNT9A 7483 broad.mit.edu 37 1 228111994 228111994 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:228111994C>T ENST00000272164.5 - 3 470 c.460G>A c.(460-462)Gca>Aca p.A154T WNT9A_ENST00000497852.1_5'UTR NM_003395.2 NP_003386.1 O14904 WNT9A_HUMAN wingless-type MMTV integration site family, member 9A 154 anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity p.A154T(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 19 Prostate(94;0.0405) AGGTCGGGTGCCTCATCGCAG 0.642000 30 178 0 0 0.729181 0 0 PTH1R 5745 broad.mit.edu 37 3 46945059 46945059 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:46945059C>T ENST00000313049.5 + 14 1898 c.1695C>T c.(1693-1695)aaC>aaT p.N565N PTH1R_ENST00000430002.2_Silent_p.N565N|PTH1R_ENST00000418619.1_Silent_p.N565N|PTH1R_ENST00000449590.1_Silent_p.N565N Q03431 PTH1R_HUMAN parathyroid hormone 1 receptor 565 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 GGTTCCTCAACGGCTCCTGCT 0.667000 8 258 0 0 0.278610 0 0 ADAM11 4185 broad.mit.edu 37 17 42855196 42855196 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:42855196G>A ENST00000200557.6 + 23 2204 c.2035G>A c.(2035-2037)Ggc>Agc p.G679S ADAM11_ENST00000535346.1_Missense_Mutation_p.G479S NM_002390.4 NP_002381.2 O75078 ADA11_HUMAN ADAM metallopeptidase domain 11 679 EGF-like. integrin-mediated signaling pathway|proteolysis integral to membrane|plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.G679S(2) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 Prostate(33;0.0959) CACCTGCCCCGGCAGTGGGGA 0.642000 7 75 0 0 0.248553 0 0 CYP2B7P1 0 broad.mit.edu 37 19 41430188 41430188 + RNA SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:41430188G>A ENST00000599198.1 + 0 65 NR_001278.1 NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1) 12 ATGGAGCTCAGCGTCCTCCTC 0.582000 4 74 0 0 0.150653 0 0 CREBBP 1387 broad.mit.edu 37 16 3842029 3842029 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:3842029G>T ENST00000262367.5 - 5 2092 c.1283C>A c.(1282-1284)cCt>cAt p.P428H CREBBP_ENST00000382070.3_Intron NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 428 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GAGGCAAACAGGACAGTCATG 0.433000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 193 0.217242 0.219351 0.217242 1 0 KDM5A 5927 broad.mit.edu 37 12 416960 416960 + Missense_Mutation SNP T T G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:416960T>G ENST00000399788.2 - 23 3952 c.3590A>C c.(3589-3591)cAa>cCa p.Q1197P KDM5A_ENST00000382815.4_Missense_Mutation_p.Q1197P NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 1197 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 TCCTTTTTTTTGGGAACTTGA 0.468000 T NUP98 AML 4 156 0 0 0.184627 0 0 KLHL14 57565 broad.mit.edu 37 18 30350295 30350295 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:30350295G>T ENST00000359358.4 - 2 698 c.260C>A c.(259-261)cCg>cAg p.P87Q KLHL14_ENST00000358095.4_Missense_Mutation_p.P87Q|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 87 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 ctgctgcggcggctgctgctg 0.726000 4 54 0.00909568 0.00945951 0.150653 1 0 ZBTB32 27033 broad.mit.edu 37 19 36206307 36206307 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:36206307C>A ENST00000392197.2 + 3 1097 c.779C>A c.(778-780)cCt>cAt p.P260H ZBTB32_ENST00000262630.3_Missense_Mutation_p.P260H Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 260 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding p.P260H(1) large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 14 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGGGGCCAGCCTGCCCTGTGG 0.672000 14 135 1.15088e-07 1.26657e-07 0.500413 1 0 PON2 5445 broad.mit.edu 37 7 95041699 95041699 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:95041699G>A ENST00000536183.1 - 4 538 c.355C>T c.(355-357)Cgg>Tgg p.R119W PON2_ENST00000222572.3_Missense_Mutation_p.R98W|PON2_ENST00000433091.2_Missense_Mutation_p.R98W NM_000305.2 NP_000296.2 Q15165 PON2_HUMAN paraoxonase 2 98 aromatic compound catabolic process extracellular region|plasma membrane arylesterase activity|identical protein binding|metal ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_cancers(62;9.35e-11)|all_epithelial(64;3.37e-09) STAD - Stomach adenocarcinoma(171;0.0151) CTTAATTCCCGTGCCCTTGGT 0.438000 5 85 0 0 0.184627 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139448 3139448 + Missense_Mutation SNP C C T rs149846830 byFrequency TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:3139448C>T ENST00000252463.2 - 5 1909 c.1822G>A c.(1822-1824)Gcc>Acc p.A608T ZSCAN10_ENST00000575108.1_Missense_Mutation_p.A269T|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.A526T NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 608 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GTGTCGCAGGCGTGGGGCTTC 0.711000 5 84 0 0 0.184627 0 0 MYRF 745 broad.mit.edu 37 11 61551032 61551032 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:61551032T>C ENST00000278836.5 + 23 3175 c.3079T>C c.(3079-3081)Tcc>Ccc p.S1027P MYRF_ENST00000389602.4_Missense_Mutation_p.S413P|TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.S987P NM_001127392.1 NP_001120864.1 myelin regulatory factor p.S987P(1) GAATTCGATGTCCATCACCTC 0.617000 11 303 0 0 0.361761 0 0 PRDM2 7799 broad.mit.edu 37 1 14105677 14105677 + Missense_Mutation SNP G G A rs143566559 by1000genomes TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:14105677G>A ENST00000235372.7 + 8 2243 c.1387G>A c.(1387-1389)Gct>Act p.A463T PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.A463T|PRDM2_ENST00000343137.4_Missense_Mutation_p.A262T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.A262T NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 463 Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding p.A463T(1) endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) TTCAGAGAAGGCTTCCCAAGA 0.418000 7 70 0 0 0.278610 0 0 BAI2 576 broad.mit.edu 37 1 32221807 32221807 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:32221807C>T ENST00000373658.3 - 4 972 c.631G>A c.(631-633)Gct>Act p.A211T BAI2_ENST00000398547.1_Missense_Mutation_p.A199T|BAI2_ENST00000373655.2_Missense_Mutation_p.A211T|BAI2_ENST00000398538.1_Missense_Mutation_p.A199T|BAI2_ENST00000398556.3_Missense_Mutation_p.A214T|BAI2_ENST00000527361.1_Missense_Mutation_p.A211T|BAI2_ENST00000398542.1_Missense_Mutation_p.A199T|BAI2_ENST00000257070.4_Missense_Mutation_p.A211T NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 211 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.A211T(1) breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) CTGCCGGCAGCGCGGCCACAC 0.647000 9 86 0 0 0.307466 0 0 FAM171A1 221061 broad.mit.edu 37 10 15325965 15325965 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:15325965C>T ENST00000378116.4 - 2 243 c.237G>A c.(235-237)caG>caA p.Q79Q NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 79 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 CCAGCTTATACTGGAACTTGA 0.567000 4 143 0 0 0.150653 0 0 CROCCP2 0 broad.mit.edu 37 1 16957414 16957414 + RNA SNP C C T rs2296161 by1000genomes TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:16957414C>T ENST00000412962.1 - 0 264 AAGTGCAGGGCGGAGAGAATC 0.706000 5 29 0 0 0.184627 0 0 SLC35D2 11046 broad.mit.edu 37 9 99099021 99099021 + Missense_Mutation SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:99099021A>G ENST00000253270.7 - 9 792 c.730T>C c.(730-732)Ttt>Ctt p.F244L SLC35D2_ENST00000375259.4_Intron NM_007001.2 NP_008932.2 Q76EJ3 S35D2_HUMAN solute carrier family 35 (UDP-GlcNAc/UDP-glucose transporter), member D2 244 Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity endometrium(3)|large_intestine(3)|lung(4)|skin(2) 12 Acute lymphoblastic leukemia(62;0.0167) GAAAGAAGAAACTGTAGGATA 0.313000 3 8 0 0 0.115264 0 0 ZBTB21 49854 broad.mit.edu 37 21 43412180 43412180 + Silent SNP G G A rs143540135 by1000genomes TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr21:43412180G>A ENST00000310826.5 - 3 2208 c.2025C>T c.(2023-2025)tgC>tgT p.C675C ZBTB21_ENST00000398511.3_Silent_p.C675C|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Silent_p.C675C NM_001098402.1 NP_001091872.1 zinc finger and BTB domain containing 21 p.C675C(1) ACGCTTTTCCGCAGTAAGTAC 0.438000 11 135 0 0 0.361761 0 0 GPR179 440435 broad.mit.edu 37 17 36486199 36486199 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:36486199G>A ENST00000342292.4 - 11 3273 c.3253C>T c.(3253-3255)Cgc>Tgc p.R1085C NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1085 integral to membrane|plasma membrane G-protein coupled receptor activity p.R1085C(1) breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCCAGGCTGCGCATGGAACCC 0.582000 4 88 0 0 0.150653 0 0 BCL11A 53335 broad.mit.edu 37 2 60688396 60688396 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:60688396C>T ENST00000335712.6 - 4 1878 c.1651G>A c.(1651-1653)Gtg>Atg p.V551M BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000537768.1_Missense_Mutation_p.V220M|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.V517M|BCL11A_ENST00000356842.4_Missense_Mutation_p.V551M|BCL11A_ENST00000538214.1_Missense_Mutation_p.V517M NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 551 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding p.V551M(3) NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GAGCTGAGCACCATGCCCTGC 0.716000 T IGH@ B-CLL 4 43 0 0 0.150653 0 0 EVPL 2125 broad.mit.edu 37 17 74005213 74005213 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:74005213C>T ENST00000301607.3 - 22 4326 c.4073G>A c.(4072-4074)cGc>cAc p.R1358H EVPL_ENST00000586740.1_Missense_Mutation_p.R1380H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1358 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 CAGCAGCAGGCGCTTGCTCTG 0.687000 5 187 0 0 0.184627 0 0 DDX23 9416 broad.mit.edu 37 12 49237789 49237789 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:49237789C>T ENST00000308025.3 - 3 333 c.254G>A c.(253-255)cGg>cAg p.R85Q DDX23_ENST00000553182.1_5'UTR NM_004818.2 NP_004809.2 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 85 Arg-rich. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding p.R85Q(1) NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3) 36 CTTCTTATTCCGATCCCGCTC 0.488000 21 382 0 0 0.608945 0 0 OBSCN 84033 broad.mit.edu 37 1 228456388 228456388 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:228456388C>T ENST00000570156.2 + 19 5645 c.5571C>T c.(5569-5571)cgC>cgT p.R1857R OBSCN_ENST00000284548.11_Silent_p.R1673R|OBSCN_ENST00000359599.6_Silent_p.R329R|OBSCN_ENST00000422127.1_Silent_p.R1673R|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 845 Ig-like 18. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding p.R1673R(1)|p.R1765R(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGAAAGTGCGCGTGGAGGCCG 0.682000 16 154 0 0 0.500413 0 0 ACSF3 197322 broad.mit.edu 37 16 89212411 89212411 + Nonsense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:89212411C>T ENST00000317447.4 + 10 1944 c.1567C>T c.(1567-1569)Cga>Tga p.R523* ACSF3_ENST00000537116.1_3'UTR|ACSF3_ENST00000406948.3_Nonsense_Mutation_p.R523*|ACSF3_ENST00000378345.4_Nonsense_Mutation_p.R258* NM_001127214.2|NM_001243279.1|NM_174917.3 NP_001120686.1|NP_001230208.1|NP_777577.2 Q4G176 ACSF3_HUMAN acyl-CoA synthetase family member 3 523 fatty acid metabolic process mitochondrion acid-thiol ligase activity|ATP binding p.R523*(1) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1) 15 BRCA - Breast invasive adenocarcinoma(80;0.0281) GGTGACCCTCCGAGAAGGACA 0.597000 6 161 0 0 0.248553 0 0 ZFP3 124961 broad.mit.edu 37 17 4995356 4995356 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:4995356G>A ENST00000318833.3 + 2 893 c.557G>A c.(556-558)cGg>cAg p.R186Q NM_153018.2 NP_694563.1 Q96NJ6 ZFP3_HUMAN ZFP3 zinc finger protein 186 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R186Q(1) NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1) 20 AGCCTTCGACGGCACCTGAGA 0.393000 7 185 0 0 0.278610 0 0 BMP8B 656 broad.mit.edu 37 1 40228862 40228862 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:40228862C>T ENST00000372827.3 - 6 1336 c.961G>A c.(961-963)Gct>Act p.A321T PPIE_ENST00000372830.1_Intron|PPIE_ENST00000356511.2_Intron NM_001720.3 NP_001711.2 P34820 BMP8B_HUMAN bone morphogenetic protein 8b 321 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity endometrium(1)|liver(1)|ovary(1)|urinary_tract(1) 4 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CCTTGGGGAGCGATGACCCAG 0.637000 9 162 0 0 0.361761 0 0 FOLR2 2350 broad.mit.edu 37 11 71932028 71932028 + Missense_Mutation SNP G G A rs140643936 byFrequency TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:71932028G>A ENST00000449475.2 + 3 614 c.316G>A c.(316-318)Gcc>Acc p.A106T FOLR2_ENST00000298223.6_Missense_Mutation_p.A89T|FOLR2_ENST00000454954.2_Missense_Mutation_p.A48T P14207 FOLR2_HUMAN folate receptor 2 (fetal) 89 folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(3)|large_intestine(3)|ovary(1)|skin(1) 8 Folic Acid(DB00158) GATGGAGCCCGCCTGCAAGCG 0.622000 7 56 0 0 0.248553 0 0 DNMT1 1786 broad.mit.edu 37 19 10262102 10262102 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:10262102C>T ENST00000340748.4 - 23 2424 c.2189G>A c.(2188-2190)cGc>cAc p.R730H DNMT1_ENST00000540357.1_Missense_Mutation_p.R730H|DNMT1_ENST00000359526.4_Missense_Mutation_p.R746H P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 730 chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding p.R730H(2) breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) CCAAGAGATGCGATTCTTGTT 0.512000 17 200 0 0 0.539581 0 0 KMT2A 4297 broad.mit.edu 37 11 118371737 118371737 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:118371737G>A ENST00000534358.1 + 25 6217 c.6194G>A c.(6193-6195)cGc>cAc p.R2065H KMT2A_ENST00000354520.4_Missense_Mutation_p.R2024H|KMT2A_ENST00000389506.5_Missense_Mutation_p.R2062H NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A ACAGATGCTCGCAAGCGCTGT 0.458000 6 100 0 0 0.217242 0 0 SETD5 55209 broad.mit.edu 37 3 9489431 9489431 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:9489431C>T ENST00000402466.1 + 16 2318 c.1550C>T c.(1549-1551)cCg>cTg p.P517L SETD5_ENST00000302463.6_Missense_Mutation_p.P517L|SETD5_ENST00000402198.1_Missense_Mutation_p.P615L|SETD5_ENST00000406341.1_Missense_Mutation_p.P615L|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.P634L Q9C0A6 SETD5_HUMAN SET domain containing 5 615 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) AGGCCCCGGCCGAAGAGTCGA 0.507000 5 298 0 0 0.248553 0 0 NOTCH1 4851 broad.mit.edu 37 9 139401818 139401818 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:139401818G>A ENST00000277541.6 - 22 3657 c.3582C>T c.(3580-3582)aaC>aaT p.N1194N NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1194 EGF-like 31; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) AGGTGCCCCCGTTCTGGCAGG 0.667000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 4 37 0 0 0.150653 0 0 OR2A25 392138 broad.mit.edu 37 7 143771567 143771567 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:143771567G>A ENST00000408898.2 + 1 293 c.255G>A c.(253-255)ctG>ctA p.L85L NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor, family 2, subfamily A, member 25 85 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L85L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Melanoma(164;0.0783) TGAACCTCCTGCATCCAGCCA 0.552000 7 122 0 0 0.278610 0 0 KCNG2 26251 broad.mit.edu 37 18 77623902 77623902 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:77623902C>T ENST00000316249.3 + 1 235 c.235C>T c.(235-237)Cgc>Tgc p.R79C NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 79 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) GTGCGCCTTCCGCGCCATCGT 0.711000 4 14 0 0 0.150653 0 0 RAI1 10743 broad.mit.edu 37 17 17701153 17701153 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:17701153G>A ENST00000353383.1 + 3 5360 c.4891G>A c.(4891-4893)Gcc>Acc p.A1631T RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1631 Ser-rich. cytoplasm|nucleus zinc ion binding p.A1631T(1) breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) Ttcctcctctgcctcctcttc 0.637000 10 152 0 0 0.361761 0 0 CAMTA1 23261 broad.mit.edu 37 1 7723412 7723412 + Splice_Site SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:7723412G>T ENST00000303635.7 + 9 1012 c.e9-1 CAMTA1_ENST00000439411.2_Splice_Site NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.?(1) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GATCTCCGCAGGAGCTGGCGG 0.607000 T WWTR1 epitheliod hemangioendothelioma 52 246 7.71302e-15 8.67193e-15 0.870114 1 0 MSI2 0 broad.mit.edu 37 17 55339544 55339544 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:55339544G>A ENST00000284073.2 + 5 512 c.303G>A c.(301-303)gcG>gcA p.A101A MSI2_ENST00000416426.2_Silent_p.A79A|MSI2_ENST00000322684.3_Silent_p.A97A NM_138962.2 NP_620412.1 Q96DH6 MSI2H_HUMAN musashi RNA-binding protein 2 101 RRM 1. cytoplasm nucleotide binding|RNA binding p.A101A(1) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1) 7 Breast(9;1.78e-08) GBM - Glioblastoma multiforme(1;0.0025) CTCGTCGAGCGCAACCCAAGG 0.368000 T HOXA9 CML 12 148 0 0 0.435327 0 0 FILIP1 27145 broad.mit.edu 37 6 76022502 76022502 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:76022502C>T ENST00000393004.2 - 5 3267 c.3046G>A c.(3046-3048)Gca>Aca p.A1016T FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.A1016T|FILIP1_ENST00000370020.1_Missense_Mutation_p.A917T Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1016 p.A1016T(1) breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GCTGGTGCTGCTGATGTAGAC 0.488000 27 187 0 0 0.717897 0 0 USP6 9098 broad.mit.edu 37 17 5033903 5033903 + Nonsense_Mutation SNP C C T rs142168522 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:5033903C>T ENST00000574788.1 + 11 2309 c.79C>T c.(79-81)Cga>Tga p.R27* USP6_ENST00000304328.5_5'UTR|USP6_ENST00000572429.1_Intron|USP6_ENST00000332776.4_Nonsense_Mutation_p.R27*|USP6_ENST00000250066.6_Nonsense_Mutation_p.R27* P35125 UBP6_HUMAN ubiquitin specific peptidase 6 (Tre-2 oncogene) 27 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R27*(2) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 34 ACAGGGACACCGAGCTGGGCT 0.597000 T """COL1A1, CDH11, ZNF9, OMD""" aneurysmal bone cysts 21 162 0 0 0.639603 0 0 GABRR1 2569 broad.mit.edu 37 6 89891738 89891738 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:89891738G>A ENST00000435811.1 - 7 1238 c.784C>T c.(784-786)Cgc>Tgc p.R262C GABRR1_ENST00000369451.3_Missense_Mutation_p.R192C|GABRR1_ENST00000454853.2_Missense_Mutation_p.R279C NM_001256703.1 NP_001243632.1 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) A receptor, rho 1 279 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity p.R279C(1)|p.R273C(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 35 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) AAGATGTGGCGACGCAACGTG 0.488000 11 167 0 0 0.387290 0 0 PTK7 0 broad.mit.edu 37 6 43126631 43126631 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:43126631C>T ENST00000230419.4 + 18 3019 c.2798C>T c.(2797-2799)gCg>gTg p.A933V PTK7_ENST00000481273.1_Missense_Mutation_p.A941V|PTK7_ENST00000352931.2_Missense_Mutation_p.A877V|PTK7_ENST00000345201.2_Missense_Mutation_p.A893V|PTK7_ENST00000349241.2_Missense_Mutation_p.A803V NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 933 Interaction with CTNNB1.|Protein kinase; inactive. A -> V (in a colorectal adenocarcinoma sample; somatic mutation). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.A933V(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) GACTTGGCTGCGCGTAACTGC 0.587000 4 60 0 0 0.150653 0 0 BOD1L1 259282 broad.mit.edu 37 4 13604158 13604158 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:13604158T>C ENST00000040738.5 - 10 4501 c.4366A>G c.(4366-4368)Aaa>Gaa p.K1456E NM_148894.2 NP_683692.2 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 1-like 1 1456 DNA binding p.K1456E(1) TGCTTAAGTTTGACAGTTTCA 0.383000 11 62 0 0 0.361761 0 0 DHRSX 207063 broad.mit.edu 37 X 2139237 2139237 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chrX:2139237C>T ENST00000334651.5 - 7 890 c.838G>A c.(838-840)Gca>Aca p.A280T NM_145177.2 NP_660160.2 Q8N5I4 DHRSX_HUMAN dehydrogenase/reductase (SDR family) X-linked 280 binding|oxidoreductase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1) 16 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) GTGACTGCTGCGTAGATGGAA 0.517000 5 185 0 0 0.217242 0 0 AC096574.4 0 broad.mit.edu 37 2 239141044 239141044 + RNA SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:239141044G>A ENST00000456601.1 + 0 720 TCCCCAAGCCGTTCAGGGCCT 0.512000 5 110 0 0 0.217242 0 0 GALNT11 63917 broad.mit.edu 37 7 151798006 151798006 + Splice_Site SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:151798006C>T ENST00000434507.1 + 5 856 c.419_splice c.e5+1 p.A140_splice GALNT11_ENST00000422997.2_Intron|GALNT11_ENST00000482812.1_Intron|GALNT11_ENST00000415421.1_Splice_Site_p.A140_splice|GALNT11_ENST00000320311.2_Splice_Site_p.A140_splice|GALNT11_ENST00000452146.2_Splice_Site_p.A59_splice|GALNT11_ENST00000430044.2_Splice_Site_p.A140_splice Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 140 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGGAATGCAGCGTATGTGCCT 0.443000 6 178 0 0 0.307466 0 0 LAMA1 284217 broad.mit.edu 37 18 7007238 7007238 + Missense_Mutation SNP G G A rs138028986 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:7007238G>A ENST00000389658.3 - 29 4253 c.4160C>T c.(4159-4161)gCa>gTa p.A1387V NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1387 Laminin EGF-like 14; second part. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCACTCCCTGCTGGGAGCTT 0.557000 4 49 0 0 0.150653 0 0 ZNF394 84124 broad.mit.edu 37 7 99097377 99097377 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:99097377T>C ENST00000337673.6 - 1 543 c.340A>G c.(340-342)Acc>Gcc p.T114A ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF394_ENST00000426306.2_Missense_Mutation_p.T114A NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 114 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GGCAGGATGGTGAGGAACTGC 0.677000 5 217 0 0 0.248553 0 0 GABRA4 2557 broad.mit.edu 37 4 46930324 46930324 + Missense_Mutation SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:46930324A>G ENST00000264318.3 - 9 2565 c.1583T>C c.(1582-1584)gTc>gCc p.V528A NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 528 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CCCAAATGTGACTGGAAAGAG 0.408000 8 188 0 0 0.278610 0 0 NOP2 4839 broad.mit.edu 37 12 6669363 6669363 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:6669363G>A ENST00000541778.1 - 15 2166 c.1678C>T c.(1678-1680)Cgt>Tgt p.R560C NOP2_ENST00000322166.5_Missense_Mutation_p.R564C|NOP2_ENST00000545200.1_Missense_Mutation_p.R560C|NOP2_ENST00000537442.1_Missense_Mutation_p.R564C|NOP2_ENST00000399466.2_Missense_Mutation_p.R560C|NOP2_ENST00000542015.1_5'UTR|NOP2_ENST00000382421.3_Missense_Mutation_p.R597C P46087 NOP2_HUMAN NOP2 nucleolar protein 564 positive regulation of cell proliferation|rRNA processing nucleolus protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 19 CGGGTAGAACGCAGACTGGGG 0.512000 8 110 0 0 0.278610 0 0 DISC1 27185 broad.mit.edu 37 1 231830155 231830155 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:231830155T>C ENST00000439617.2 + 2 704 c.651T>C c.(649-651)ctT>ctC p.L217L DISC1_ENST00000317586.4_Silent_p.L217L|DISC1_ENST00000539444.1_Silent_p.L217L|DISC1_ENST00000602281.1_Silent_p.L217L|DISC1_ENST00000366636.4_Silent_p.L217L|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000535983.1_Silent_p.L217L|DISC1_ENST00000366633.3_Silent_p.L217L|DISC1_ENST00000537876.1_Silent_p.L217L|TRAX_ENST00000602962.1_3'UTR|DISC1_ENST00000602873.1_Intron NM_001164537.1|NM_001164540.1|NM_018662.2 NP_001158009.1|NP_001158012.1|NP_061132.2 Q9NRI5 DISC1_HUMAN disrupted in schizophrenia 1 217 Interaction with MAP1A. microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway centrosome|microtubule protein binding breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(173;0.0208)|Prostate(94;0.0975) GGCTCTCGCTTGGCTCTGCCG 0.617000 10 87 0 0 0.335167 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186793469 186793469 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:186793469G>T ENST00000169298.3 + 8 1773 c.1099G>T c.(1099-1101)Ggt>Tgt p.G367C ST6GAL1_ENST00000457772.2_Missense_Mutation_p.G136C|ST6GAL1_ENST00000448044.1_Missense_Mutation_p.G367C NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 367 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CTGCACGATGGGTGCCTACCA 0.517000 5 65 0.0215528 0.0220836 0.217242 1 0 SIDT2 51092 broad.mit.edu 37 11 117060951 117060951 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:117060951G>A ENST00000324225.4 + 17 2094 c.1563G>A c.(1561-1563)ctG>ctA p.L521L SIDT2_ENST00000431081.2_Silent_p.L518L NM_001040455.1 NP_001035545.1 Q8NBJ9 SIDT2_HUMAN SID1 transmembrane family, member 2 521 integral to membrane|lysosomal membrane NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 36 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144) TCATCATCCTGCAACGGGAGA 0.602000 5 183 0 0 0.217242 0 0 BEND3 57673 broad.mit.edu 37 6 107390676 107390676 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:107390676G>A ENST00000429433.2 - 5 2368 c.1719C>T c.(1717-1719)ttC>ttT p.F573F BEND3_ENST00000369042.1_Silent_p.F573F NM_001080450.2 NP_001073919.1 Q5T5X7 BEND3_HUMAN BEN domain containing 3 573 BEN 3. central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3) 30 GGCGCGAGGCGAAGTTGCCGA 0.637000 7 143 0 0 0.278610 0 0 VKORC1L1 154807 broad.mit.edu 37 7 65419190 65419190 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:65419190C>T ENST00000360768.3 + 3 539 c.434C>T c.(433-435)aCg>aTg p.T145M VKORC1L1_ENST00000434382.2_Silent_p.H108H NM_173517.3 NP_775788.2 Q8N0U8 VKORL_HUMAN vitamin K epoxide reductase complex, subunit 1-like 1 145 integral to membrane p.H108H(1)|p.T145M(1) large_intestine(1)|prostate(1) 2 Lung NSC(55;0.197) Menadione(DB00170)|Warfarin(DB00682) TGCATCGTCACGTACGTGCTG 0.512000 15 118 0 0 0.479597 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19076976 19076976 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:19076976G>A ENST00000329773.2 - 2 1061 c.974C>T c.(973-975)tCg>tTg p.S325L NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 325 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding p.S325L(1) NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 ACTGCTTCTCGACATCTCCGG 0.537000 11 112 0 0 0.387290 0 0 TIMELESS 8914 broad.mit.edu 37 12 56817644 56817644 + Missense_Mutation SNP G G C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:56817644G>C ENST00000229201.4 - 16 2054 c.1900C>G c.(1900-1902)Caa>Gaa p.Q634E TIMELESS_ENST00000554616.1_Intron|TIMELESS_ENST00000553532.1_Missense_Mutation_p.Q635E NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 635 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 GAAATGTCTTGAGAGCCAAAC 0.473000 4 133 0 0 0.184627 0 0 AKAP11 11215 broad.mit.edu 37 13 42876768 42876768 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr13:42876768G>A ENST00000025301.2 + 8 4061 c.3886G>A c.(3886-3888)Gaa>Aaa p.E1296K NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1296 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) TGATGGTGACGAAGATTATAA 0.388000 4 97 0 0 0.184627 0 0 COL6A3 1293 broad.mit.edu 37 2 238274526 238274526 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:238274526C>T ENST00000295550.4 - 12 6105 c.5653G>A c.(5653-5655)Gtg>Atg p.V1885M COL6A3_ENST00000346358.4_Missense_Mutation_p.V1685M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1679M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1684M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V1278M|COL6A3_ENST00000409809.1_Missense_Mutation_p.V1679M NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 1885 Nonhelical region.|VWFA 10. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity p.V1885M(1) breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GACACACGCACGGTGGGCGAG 0.612000 19 153 0 0 0.575678 0 0 IGSF9B 22997 broad.mit.edu 37 11 133799647 133799647 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:133799647C>T ENST00000321016.8 - 12 1780 c.1550G>A c.(1549-1551)cGg>cAg p.R517Q IGSF9B_ENST00000533871.2_Missense_Mutation_p.R517Q Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 517 Fibronectin type-III 1. integral to membrane|plasma membrane p.R517Q(1) breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GACCTGGACCCGGACACTGCC 0.597000 9 106 0 0 0.387290 0 0 ORAI2 80228 broad.mit.edu 37 7 102087010 102087010 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:102087010G>A ENST00000356387.2 + 4 511 c.276G>A c.(274-276)ccG>ccA p.P92P ORAI2_ENST00000478730.1_Silent_p.P92P|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.P92P|ORAI2_ENST00000473939.1_Silent_p.P92P NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3 NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator 2 92 integral to membrane protein binding p.P92P(1) autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 ACCCGCGGCCGCTGCTGATTG 0.652000 4 96 0 0 0.184627 0 0 PCDHA4 0 broad.mit.edu 37 5 140188641 140188641 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:140188641C>T ENST00000530339.1 + 1 1869 c.1869C>T c.(1867-1869)cgC>cgT p.R623R PCDHA4_ENST00000356878.4_Silent_p.R623R|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.R623R|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 p.R623R(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCGTTCCGCGTGGGGCTGT 0.672000 9 199 0 0 0.361761 0 0 PLB1 151056 broad.mit.edu 37 2 28761155 28761155 + Silent SNP A A C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:28761155A>C ENST00000422425.2 + 10 602 c.558A>C c.(556-558)gcA>gcC p.A186A PLB1_ENST00000327757.5_Intron NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 185 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity p.A186A(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) TCCTGCAGGCACCCTCACTTA 0.627000 3 39 0 0 0.115264 0 0 DIS3L 115752 broad.mit.edu 37 15 66618502 66618502 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:66618502C>T ENST00000319194.5 + 12 2013 c.1752C>T c.(1750-1752)caC>caT p.H584H RP11-352G18.2_ENST00000565993.1_RNA|DIS3L_ENST00000319212.4_Silent_p.H667H NM_133375.3 NP_588616.1 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 667 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding p.H667H(1)|p.H584H(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 AGAACATTCACGACCTCATCC 0.537000 10 112 0 0 0.361761 0 0 ALG2 85365 broad.mit.edu 37 9 101980873 101980873 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:101980873G>A ENST00000476832.1 - 2 655 c.594C>T c.(592-594)gtC>gtT p.V198V ALG2_ENST00000319033.6_Silent_p.V105V NM_033087.3 NP_149078.1 Q9H553 ALG2_HUMAN ALG2, alpha-1,3/1,6-mannosyltransferase 198 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding p.V198V(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2) 22 Acute lymphoblastic leukemia(62;0.0559) ATGGATAGAGGACATCAGGGT 0.468000 13 118 0 0 0.520397 0 0 BMP1 649 broad.mit.edu 37 8 22051965 22051965 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:22051965C>T ENST00000306385.5 + 11 1975 c.1305C>T c.(1303-1305)tgC>tgT p.C435C BMP1_ENST00000306349.8_Silent_p.C435C|BMP1_ENST00000397814.3_Silent_p.C435C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.C435C NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 435 CUB 2. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding p.C435C(1) breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CAGCCATCTGCGGGGGTGATG 0.587000 7 64 0 0 0.307466 0 0 ZNF462 58499 broad.mit.edu 37 9 109689585 109689585 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:109689585T>C ENST00000277225.5 + 3 3681 c.3392T>C c.(3391-3393)gTc>gCc p.V1131A ZNF462_ENST00000457913.1_Missense_Mutation_p.V1131A Q96JM2 ZN462_HUMAN zinc finger protein 462 1131 transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V1131A(1) NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 GGAGTGCTTGTCCACTACCAG 0.532000 16 238 0 0 0.575678 0 0 SIRT4 23409 broad.mit.edu 37 12 120741830 120741830 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:120741830C>T ENST00000202967.4 + 2 525 c.466C>T c.(466-468)Cgc>Tgc p.R156C SIRT4_ENST00000537892.1_3'UTR NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 156 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding p.R156C(1) haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGGGAGTCGGCGCCTGACAGA 0.567000 6 94 0 0 0.278610 0 0 MYT1L 23040 broad.mit.edu 37 2 1926178 1926178 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:1926178C>T ENST00000399161.2 - 10 2110 c.1363G>A c.(1363-1365)Gaa>Aaa p.E455K MYT1L_ENST00000428368.2_Missense_Mutation_p.E455K NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 455 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.E455K(2) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CTCCCAGCTTCCATGGCCATC 0.532000 32 207 0 0 0.769981 0 0 IGSF22 283284 broad.mit.edu 37 11 18735656 18735656 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:18735656G>T ENST00000513874.1 - 14 1977 c.1838C>A c.(1837-1839)gCt>gAt p.A613D RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 613 Ig-like 4. p.A613D(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 GGCGTGCGCAGCCAGTGCCTC 0.627000 6 121 0.0215528 0.0220836 0.217242 1 0 PPP1R3B 79660 broad.mit.edu 37 8 8998482 8998482 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:8998482C>T ENST00000310455.3 - 2 830 c.680G>A c.(679-681)gGc>gAc p.G227D PPP1R3B_ENST00000519699.1_Missense_Mutation_p.G227D NM_001201329.1|NM_024607.3 NP_001188258.1|NP_078883.2 Q86XI6 PPR3B_HUMAN protein phosphatase 1, regulatory subunit 3B 227 CBM21. glycogen metabolic process p.G227D(2) endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 12 COAD - Colon adenocarcinoma(149;0.0717)|READ - Rectum adenocarcinoma(644;0.241) ATAGTTCTTGCCTCTGTTGCT 0.483000 19 128 0 0 0.575678 0 0 SARS 6301 broad.mit.edu 37 1 109772145 109772145 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:109772145G>A ENST00000369923.4 + 4 409 c.398G>A c.(397-399)cGa>cAa p.R133Q SARS_ENST00000234677.2_Missense_Mutation_p.R133Q P49591 SYSC_HUMAN seryl-tRNA synthetase 133 seryl-tRNA aminoacylation|tRNA processing cytosol ATP binding|protein binding|RNA binding|serine-tRNA ligase activity p.R133Q(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 17 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233) L-Serine(DB00133) GAGAACCTCCGAGAGATTGGG 0.532000 41 407 0 0 0.859065 0 0 TLK1 9874 broad.mit.edu 37 2 171863509 171863509 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:171863509C>A ENST00000442919.2 - 15 1952 c.1337G>T c.(1336-1338)aGa>aTa p.R446I TLK1_ENST00000360843.3_Missense_Mutation_p.R515I|TLK1_ENST00000521943.1_Missense_Mutation_p.R446I|TLK1_ENST00000434911.2_Missense_Mutation_p.R398I|TLK1_ENST00000431350.2_Missense_Mutation_p.R494I NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 494 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CTTCTCATCTCTCCAGCTTTT 0.294000 6 60 3.59834e-05 3.83823e-05 0.217242 1 0 SMPD3 55512 broad.mit.edu 37 16 68405352 68405352 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:68405352C>T ENST00000219334.5 - 3 1336 c.733G>A c.(733-735)Gtg>Atg p.V245M SMPD3_ENST00000563226.1_Missense_Mutation_p.V245M|SMPD3_ENST00000568373.1_Missense_Mutation_p.V245M NM_018667.3 NP_061137.1 Q9NY59 NSMA2_HUMAN sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) 245 cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity p.V245M(1) breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) CCGATGCGCACGATGCAGGCA 0.726000 8 51 0 0 0.307466 0 0 GMIP 51291 broad.mit.edu 37 19 19748980 19748980 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:19748980C>A ENST00000203556.4 - 9 914 c.777G>T c.(775-777)gaG>gaT p.E259D GMIP_ENST00000587238.1_Missense_Mutation_p.E259D|GMIP_ENST00000445806.2_Missense_Mutation_p.E259D NM_016573.2 NP_057657.2 Q9P107 GMIP_HUMAN GEM interacting protein 259 negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 TGGCCTGGGCCTCCTCTCGCG 0.771000 4 15 1.024e-07 1.13899e-07 0.184627 1 0 COL4A2 1284 broad.mit.edu 37 13 111138135 111138135 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr13:111138135G>A ENST00000360467.5 + 34 3465 c.3159G>A c.(3157-3159)gtG>gtA p.V1053V NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1053 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TCCCTGGGGTGGCTGGCCCCC 0.617000 6 111 0 0 0.217242 0 0 CDR2 1039 broad.mit.edu 37 16 22358681 22358681 + Missense_Mutation SNP C C T rs145715358 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:22358681C>T ENST00000268383.2 - 5 1277 c.970G>A c.(970-972)Gtg>Atg p.V324M NM_001802.1 NP_001793.1 Q01850 CDR2_HUMAN cerebellar degeneration-related protein 2, 62kDa 324 nucleus protein binding endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1) 11 GBM - Glioblastoma multiforme(48;0.0188) TGGCCCTTCACGATGTCACTC 0.577000 8 63 0 0 0.278610 0 0 PLD1 5337 broad.mit.edu 37 3 171427351 171427351 + Splice_Site SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:171427351A>G ENST00000356327.5 - 10 1130 c.1061_splice c.e10+1 p.W354_splice PLD1_ENST00000342215.6_Splice_Site_p.W354_splice|PLD1_ENST00000351298.4_Splice_Site_p.W354_splice|PLD1_ENST00000340989.4_Splice_Site_p.W354_splice NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 354 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.W354R(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) ATAACTTACCATTTAGCTAAA 0.378000 10 106 0 0 0.387290 0 0 SETD5 55209 broad.mit.edu 37 3 9490139 9490139 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:9490139G>A ENST00000402466.1 + 17 2645 c.1877G>A c.(1876-1878)cGt>cAt p.R626H SETD5_ENST00000302463.6_Missense_Mutation_p.R626H|SETD5_ENST00000402198.1_Missense_Mutation_p.R724H|SETD5_ENST00000406341.1_Missense_Mutation_p.R724H|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.R743H Q9C0A6 SETD5_HUMAN SET domain containing 5 724 NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) TGCCCTTTACGTATCACAACG 0.418000 4 92 0 0 0.150653 0 0 VPS13B 157680 broad.mit.edu 37 8 100454735 100454735 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:100454735G>A ENST00000395996.1 + 23 3428 c.3317G>A c.(3316-3318)gGa>gAa p.G1106E VPS13B_ENST00000358544.2_Missense_Mutation_p.G1106E|VPS13B_ENST00000357162.2_Missense_Mutation_p.G1106E Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 1106 protein transport p.G1106E(2) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TGGTACCATGGACAAACCAGC 0.428000 6 107 0 0 0.248553 0 0 HEATR6 63897 broad.mit.edu 37 17 58121389 58121389 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:58121389C>T ENST00000184956.6 - 20 3097 c.3081G>A c.(3079-3081)ccG>ccA p.P1027P HEATR6_ENST00000585976.1_Silent_p.P915P NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 1027 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CTCTCTTCCCCGGGACGGAAA 0.532000 9 201 0 0 0.335167 0 0 DDX56 54606 broad.mit.edu 37 7 44612025 44612025 + Missense_Mutation SNP C C T rs140918826 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:44612025C>T ENST00000258772.5 - 5 672 c.566G>A c.(565-567)cGg>cAg p.R189Q DDX56_ENST00000485367.1_5'UTR|DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q NM_001257189.1|NM_019082.3 NP_001244118.1|NP_061955.1 Q9NY93 DDX56_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 56 189 Helicase ATP-binding. rRNA processing nucleolus ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1) 16 CTGGTAAATCCGGGGCAAGTG 0.493000 5 66 0 0 0.217242 0 0 EP400 57634 broad.mit.edu 37 12 132472338 132472338 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:132472338G>A ENST00000333577.4 + 8 2529 c.2420G>A c.(2419-2421)cGc>cAc p.R807H EP400_ENST00000389562.2_Missense_Mutation_p.R770H|EP400_ENST00000330386.6_Missense_Mutation_p.R771H|EP400_ENST00000332482.4_Missense_Mutation_p.R734H|EP400_ENST00000389561.2_Missense_Mutation_p.R771H Q96L91 EP400_HUMAN E1A binding protein p400 807 HSA. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GAGGCCCCACGCCCCAAGTCC 0.597000 4 96 0 0 0.150653 0 0 KLK4 9622 broad.mit.edu 37 19 51412615 51412615 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:51412615C>T ENST00000324041.1 - 2 116 c.117G>A c.(115-117)ccG>ccA p.P39P NM_004917.3 NP_004908.3 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 39 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GCTGCGAGTGCGGGCTGCAGT 0.637000 7 503 0 0 0.278610 0 0 DLC1 10395 broad.mit.edu 37 8 12947960 12947960 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:12947960C>T ENST00000276297.4 - 15 4284 c.3875G>A c.(3874-3876)cGa>cAa p.R1292Q DLC1_ENST00000520226.1_Missense_Mutation_p.R781Q|DLC1_ENST00000358919.2_Missense_Mutation_p.R855Q|DLC1_ENST00000512044.2_Missense_Mutation_p.R889Q|DLC1_ENST00000510318.1_5'UTR NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 1292 actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding p.R1292Q(2) NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 ATTACGACATCGGCTCATTTC 0.512000 4 124 0 0 0.150653 0 0 SGPL1 8879 broad.mit.edu 37 10 72576638 72576638 + Splice_Site SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:72576638T>C ENST00000373202.3 + 2 227 c.e2+2 SGPL1_ENST00000486993.1_Splice_Site NM_003901.3 NP_003892.2 O95470 SGPL1_HUMAN sphingosine-1-phosphate lyase 1 apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process integral to endoplasmic reticulum membrane carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity large_intestine(4) 4 Pyridoxal Phosphate(DB00114) CTGATGTTGGTGAGCCTTTTG 0.473000 11 520 0 0 0.435327 0 0 MYO15A 51168 broad.mit.edu 37 17 18043898 18043898 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:18043898C>A ENST00000205890.5 + 20 5617 c.5279C>A c.(5278-5280)tCc>tAc p.S1760Y MYO15A_ENST00000412324.1_3'UTR NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 1760 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) AAGAGCAGCTCCGTCACTCGG 0.647000 OREG0024223 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 275 0.000673444 0.000714675 0.361761 1 0 BTRC 8945 broad.mit.edu 37 10 103294575 103294575 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:103294575C>T ENST00000370187.3 + 10 1373 c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W BTRC_ENST00000408038.2_Missense_Mutation_p.R383W|BTRC_ENST00000393441.4_Missense_Mutation_p.R378W NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 419 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) CATTACCCTCCGGAGGGTGCT 0.468000 5 283 0 0 0.184627 0 0 ASB4 51666 broad.mit.edu 37 7 95157409 95157409 + Missense_Mutation SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:95157409A>G ENST00000325885.5 + 3 843 c.772A>G c.(772-774)Aag>Gag p.K258E ASB4_ENST00000428113.1_Missense_Mutation_p.K258E NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 258 intracellular signal transduction p.K258E(1) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TCCCCTCCACAAGGCAGCCTG 0.557000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 99 0 0 0.217242 0 0 EIF4G1 1981 broad.mit.edu 37 3 184039641 184039641 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:184039641G>A ENST00000342981.4 + 9 1683 c.1269G>A c.(1267-1269)gaG>gaA p.E423E EIF4G1_ENST00000435046.2_Silent_p.E227E|EIF4G1_ENST00000427845.1_Silent_p.E336E|EIF4G1_ENST00000352767.3_Silent_p.E430E|EIF4G1_ENST00000319274.6_Silent_p.E423E|EIF4G1_ENST00000441154.1_Silent_p.E259E|EIF4G1_ENST00000350481.5_Silent_p.E259E|EIF4G1_ENST00000434061.2_Silent_p.E227E|EIF4G1_ENST00000414031.1_Silent_p.E383E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Silent_p.E383E|EIF4G1_ENST00000382330.3_Silent_p.E430E|EIF4G1_ENST00000346169.2_Silent_p.E423E|EIF4G1_ENST00000424196.1_Silent_p.E430E|EIF4G1_ENST00000392537.2_Silent_p.E336E NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 423 insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCCAGAGGAGCAGGCCAAGG 0.617000 6 269 0 0 0.248553 0 0 MYO1D 4642 broad.mit.edu 37 17 31087406 31087406 + Missense_Mutation SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:31087406T>C ENST00000318217.5 - 10 1502 c.1198A>G c.(1198-1200)Atc>Gtc p.I400V MYO1D_ENST00000583621.1_Missense_Mutation_p.I400V|MYO1D_ENST00000579584.1_Missense_Mutation_p.I400V|MYO1D_ENST00000394649.4_Missense_Mutation_p.I312V|MYO1D_ENST00000584232.1_5'UTR NM_015194.1 NP_056009.1 O94832 MYO1D_HUMAN myosin ID 400 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 BRCA - Breast invasive adenocarcinoma(9;0.0362) CAGTAATTGATACAGAATTGT 0.368000 7 150 0 0 0.248553 0 0 SEC24B 10427 broad.mit.edu 37 4 110447421 110447421 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:110447421G>A ENST00000265175.5 + 17 2886 c.2831G>A c.(2830-2832)cGt>cAt p.R944H SEC24B_ENST00000399100.2_Missense_Mutation_p.R909H|SEC24B_ENST00000504968.2_Missense_Mutation_p.R974H NM_006323.2 NP_006314.2 O95487 SC24B_HUMAN SEC24 family member B 944 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|transporter activity|zinc ion binding p.R944H(1)|p.R909H(1) breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;3.03e-05) TTCTTTGTCCGTTCTACTGAT 0.358000 9 124 0 0 0.361761 0 0 FZD2 2535 broad.mit.edu 37 17 42636103 42636103 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:42636103G>A ENST00000315323.3 + 1 1179 c.1047G>A c.(1045-1047)tcG>tcA p.S349S NM_001466.3 NP_001457.1 Q14332 FZD2_HUMAN frizzled family receptor 2 349 axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding p.S349S(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TCATCCTGTCGCTCACCTGGT 0.632000 8 100 0 0 0.307466 0 0 CASKIN1 57524 broad.mit.edu 37 16 2239048 2239048 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:2239048G>A ENST00000343516.6 - 6 689 c.597C>T c.(595-597)aaC>aaT p.N199N NM_020764.3 NP_065815.1 Q8WXD9 CSKI1_HUMAN CASK interacting protein 1 199 signal transduction cytoplasm p.N199N(1)|p.N28N(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3) 28 CGATGTGGCCGTTTTTAGCTG 0.652000 21 139 0 0 0.608945 0 0 SEPT9 10801 broad.mit.edu 37 17 75398336 75398336 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:75398336G>A ENST00000329047.8 + 2 1030 c.218G>A c.(217-219)cGg>cAg p.R73Q SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000427177.1_Missense_Mutation_p.R91Q|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000423034.2_Missense_Mutation_p.R84Q|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Missense_Mutation_p.R72Q|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.R73Q NM_006640.4 NP_006631.2 Q9UHD8 SEPT9_HUMAN septin 9 91 cell cycle|cell division|protein heterooligomerization microtubule|perinuclear region of cytoplasm|stress fiber GTP binding|GTPase activity|protein binding p.R73Q(2) autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2) 16 BRCA - Breast invasive adenocarcinoma(99;0.153) GCGTCCCTGCGGAGGGTGGAG 0.667000 10 56 0 0 0.335167 0 0 TUBG2 27175 broad.mit.edu 37 17 40811928 40811928 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:40811928C>T ENST00000251412.7 + 2 325 c.126C>T c.(124-126)acC>acT p.T42T NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 42 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) AATTCGCCACCGAGGGCACTG 0.667000 11 170 0 0 0.387290 0 0 ZNF71 58491 broad.mit.edu 37 19 57132798 57132798 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:57132798C>T ENST00000328070.6 + 3 377 c.143C>T c.(142-144)cCg>cTg p.P48L NM_021216.4 NP_067039.1 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 48 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 26 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CCAGAGAGGCCGCGGGGAGAT 0.617000 9 53 0 0 0.307466 0 0 TUBG2 27175 broad.mit.edu 37 17 40818429 40818429 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:40818429G>T ENST00000251412.7 + 10 1284 c.1085G>T c.(1084-1086)aGg>aTg p.R362M NM_016437.2 NP_057521.1 Q9NRH3 TBG2_HUMAN tubulin, gamma 2 362 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) GCCCTGTCGAGGAAGTCTCCC 0.622000 4 155 0.014758 0.015272 0.184627 1 0 APPL1 26060 broad.mit.edu 37 3 57303570 57303570 + Splice_Site SNP A A T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:57303570A>T ENST00000288266.3 + 22 2132 c.1983_splice c.e22-1 p.D662_splice ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR NM_012096.2 NP_036228.1 Q9UKG1 DP13A_HUMAN adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 662 apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import cytosol|early endosome membrane|microsome|nucleus|vesicle membrane protein kinase B binding p.D662V(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2) 27 KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144) TTCCACTAGGACTTGGAAGAA 0.423000 7 102 0 0 0.278610 0 0 ZPBP 11055 broad.mit.edu 37 7 50121412 50121412 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:50121412G>T ENST00000046087.2 - 3 361 c.292C>A c.(292-294)Cca>Aca p.P98T ZPBP_ENST00000419417.1_Missense_Mutation_p.P98T NM_001159878.1|NM_007009.2 NP_001153350.1|NP_008940.2 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein 98 binding of sperm to zona pellucida extracellular region p.P98T(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3) 29 Glioma(55;0.08)|all_neural(89;0.245) TGGAATGATGGGTCTATCAGT 0.358000 4 66 0.150653 0.152858 0.150653 1 0 RAB3A 5864 broad.mit.edu 37 19 18313413 18313413 + Silent SNP C C T rs144222621 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:18313413C>T ENST00000222256.4 - 2 316 c.138G>A c.(136-138)tcG>tcA p.S46S RAB3A_ENST00000464076.2_Intron NM_002866.4 NP_002857.1 P20336 RAB3A_HUMAN RAB3A, member RAS oncogene family 46 glutamate secretion|protein transport|small GTPase mediated signal transduction clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle GTP binding|GTPase activity p.S46S(2) NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 8 CAGGCGTGAACGAGTCGTCAG 0.542000 OREG0025360 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 273 0 0 0.834066 0 0 CLPTM1 1209 broad.mit.edu 37 19 45476426 45476426 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:45476426C>T ENST00000541297.2 + 3 691 c.226C>T c.(226-228)Cgc>Tgc p.R76C CLPTM1_ENST00000337392.5_Missense_Mutation_p.R90C|CLPTM1_ENST00000546079.1_5'UTR O96005 CLPT1_HUMAN cleft lip and palate associated transmembrane protein 1 90 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane p.R90C(2) endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) AGGAGCTCCACGCGTCGCCAG 0.627000 14 119 0 0 0.435327 0 0 GRIK1 2897 broad.mit.edu 37 21 31062069 31062069 + Missense_Mutation SNP C C T rs143948570 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr21:31062069C>T ENST00000399914.1 - 3 1044 c.523G>A c.(523-525)Gtg>Atg p.V175M GRIK1_ENST00000399913.1_Missense_Mutation_p.V175M|GRIK1_ENST00000309434.7_Missense_Mutation_p.V175M|GRIK1_ENST00000399909.1_Missense_Mutation_p.V175M|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.V175M|GRIK1_ENST00000389125.3_Missense_Mutation_p.V175M|GRIK1_ENST00000389124.2_Missense_Mutation_p.V175M|GRIK1_ENST00000327783.4_Missense_Mutation_p.V175M|GRIK1_ENST00000535441.1_Missense_Mutation_p.V175M P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 175 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.V175M(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCATACACCACTGTCACTGTT 0.433000 20 226 0 0 0.557998 0 0 FAM91A1 157769 broad.mit.edu 37 8 124799551 124799551 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:124799551C>T ENST00000334705.7 + 13 1375 c.1129C>T c.(1129-1131)Cgc>Tgc p.R377C FAM91A1_ENST00000521166.1_Missense_Mutation_p.R377C NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 377 p.R377C(1) breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) ACACACGAAGCGCATCGCATT 0.388000 12 85 0 0 0.435327 0 0 TPD52L1 0 broad.mit.edu 37 6 125550342 125550342 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:125550342G>A ENST00000534000.1 + 3 510 c.214G>A c.(214-216)Ggc>Agc p.G72S TPD52L1_ENST00000532429.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000392482.2_Missense_Mutation_p.G43S|TPD52L1_ENST00000534199.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000524679.1_Missense_Mutation_p.G43S|TPD52L1_ENST00000304877.13_Missense_Mutation_p.G72S|TPD52L1_ENST00000368388.2_Missense_Mutation_p.G72S|TPD52L1_ENST00000368402.5_Missense_Mutation_p.G72S|TPD52L1_ENST00000528193.1_Missense_Mutation_p.G72S|TPD52L1_ENST00000527711.1_Missense_Mutation_p.G72S NM_003287.2 NP_003278.1 Q16890 TPD53_HUMAN tumor protein D52-like 1 72 DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity perinuclear region of cytoplasm caspase activator activity|protein heterodimerization activity|protein homodimerization activity p.G72S(1) endometrium(2)|large_intestine(2)|prostate(1) 5 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0265) ACAAAAACTCGGCATGAACCT 0.393000 5 128 0 0 0.184627 0 0 PGA5 5222 broad.mit.edu 37 11 61018744 61018744 + Silent SNP T T C rs601275 byFrequency TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:61018744T>C ENST00000312403.5 + 9 1343 c.1158T>C c.(1156-1158)ccT>ccC p.P386P PGA5_ENST00000541528.1_Silent_p.P126P|PGA5_ENST00000451616.2_Silent_p.P232P|PGA4_ENST00000422676.2_Silent_p.P386P NM_014224.2 NP_055039.1 P00790 PEPA_HUMAN pepsinogen 5, group I (pepsinogen A) 386 digestion|proteolysis extracellular region aspartic-type endopeptidase activity p.P386P(2) large_intestine(1)|skin(1) 2 GCCTGGCCCCTGTGGCTTAAG 0.537000 13 195 0 0 0.411799 0 0 CACNG4 27092 broad.mit.edu 37 17 65026808 65026808 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:65026808G>A ENST00000262138.3 + 4 674 c.672G>A c.(670-672)gcG>gcA p.A224A NM_014405.3 NP_055220.1 Q9UBN1 CCG4_HUMAN calcium channel, voltage-dependent, gamma subunit 4 224 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity p.A224A(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3) 19 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) TCCTTAAGGCGTCTTCCTCTT 0.542000 30 134 0 0 0.750413 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 4 85 0 0 0.150653 0 0 MFSD7 84179 broad.mit.edu 37 4 680048 680048 + Missense_Mutation SNP C C T rs138706049 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:680048C>T ENST00000322224.4 - 3 651 c.338G>A c.(337-339)cGc>cAc p.R113H MFSD7_ENST00000503156.1_Missense_Mutation_p.R49H|MFSD7_ENST00000515118.1_Intron|MFSD7_ENST00000347950.5_Intron|MFSD7_ENST00000513740.1_Intron|MFSD7_ENST00000404286.2_Missense_Mutation_p.R113H Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 113 transmembrane transport integral to membrane p.R113H(1) cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 GGGCACCATGCGTAGCACACT 0.627000 8 80 0 0 0.307466 0 0 THNSL1 79896 broad.mit.edu 37 10 25314125 25314125 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:25314125G>A ENST00000524413.1 + 3 2320 c.1973G>A c.(1972-1974)tGc>tAc p.C658Y THNSL1_ENST00000376356.4_Missense_Mutation_p.C658Y Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 (S. cerevisiae) 658 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) GACAAAACTTGCCCTGTGATT 0.403000 6 109 0 0 0.217242 0 0 DNAH9 1770 broad.mit.edu 37 17 11865470 11865470 + Missense_Mutation SNP A A C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:11865470A>C ENST00000262442.3 + 68 13198 c.13130A>C c.(13129-13131)cAa>cCa p.Q4377P DNAH9_ENST00000454412.2_Missense_Mutation_p.Q4301P|RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000396001.2_Missense_Mutation_p.Q689P NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 4377 cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ATGGCCCTGCAATGTGACATG 0.562000 9 106 0 0 0.335167 0 0 EOGT 285203 broad.mit.edu 37 3 69047176 69047176 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:69047176C>T ENST00000383701.3 - 10 1559 c.817G>A c.(817-819)Gtg>Atg p.V273M EOGT_ENST00000295571.5_Missense_Mutation_p.V273M|EOGT_ENST00000540955.1_Intron|EOGT_ENST00000540764.1_Missense_Mutation_p.V172M NM_001278689.1 NP_001265618.1 EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase TCCCACATCACGATGTACACG 0.393000 5 120 0 0 0.184627 0 0 FAT1 2195 broad.mit.edu 37 4 187541003 187541003 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:187541003G>A ENST00000441802.2 - 10 6946 c.6737C>T c.(6736-6738)gCc>gTc p.A2246V NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 2246 Cadherin 20. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TGCCGGGTGGGCCTCAAAGTC 0.463000 HNSCC(5;0.00058) 8 283 0 0 0.278610 0 0 UBR3 130507 broad.mit.edu 37 2 170938348 170938348 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:170938348C>T ENST00000272793.5 + 39 5712 c.5662C>T c.(5662-5664)Ctg>Ttg p.L1888L UBR3_ENST00000392631.1_Silent_p.L709L|UBR3_ENST00000418381.1_Silent_p.L1888L Q6ZT12 UBR3_HUMAN ubiquitin protein ligase E3 component n-recognin 3 (putative) 1888 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding p.L741L(1)|p.L1888L(1) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1) 33 TTACAATGGGCTGTGACTCTC 0.358000 8 113 0 0 0.307466 0 0 LANCL2 55915 broad.mit.edu 37 7 55492990 55492990 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:55492990G>T ENST00000254770.2 + 7 1630 c.1052G>T c.(1051-1053)aGc>aTc p.S351I NM_018697.3 NP_061167.1 Q9NS86 LANC2_HUMAN LanC lantibiotic synthetase component C-like 2 (bacterial) 351 negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway cortical actin cytoskeleton|cytosol|nucleus|plasma membrane ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 25 Breast(14;0.0379) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706) ATGGAGTGTAGCGATGTGATT 0.488000 5 135 1.024e-07 1.13899e-07 0.184627 1 0 C14orf159 80017 broad.mit.edu 37 14 91647609 91647609 + Silent SNP T T C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:91647609T>C ENST00000518868.1 + 11 1500 c.810T>C c.(808-810)tgT>tgC p.C270C C14orf159_ENST00000256324.10_Silent_p.C270C|C14orf159_ENST00000520328.1_Silent_p.C253C|C14orf159_ENST00000522322.1_Silent_p.C265C|C14orf159_ENST00000412671.2_Silent_p.C270C|C14orf159_ENST00000521077.2_Silent_p.C270C|C14orf159_ENST00000428926.2_Silent_p.C265C|C14orf159_ENST00000523771.1_Silent_p.C265C|C14orf159_ENST00000523816.1_Silent_p.C265C|C14orf159_ENST00000525393.2_Silent_p.C141C Q7Z3D6 CN159_HUMAN chromosome 14 open reading frame 159 265 mitochondrion p.C265C(1) NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0191)|all_epithelial(191;0.241) Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207) CACCTGGTTGTCTCACCCCAG 0.522000 5 63 0 0 0.184627 0 0 XYLT1 64131 broad.mit.edu 37 16 17232351 17232351 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:17232351C>T ENST00000261381.6 - 8 1709 c.1625G>A c.(1624-1626)tGc>tAc p.C542Y CTD-2576D5.4_ENST00000567344.1_RNA NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 542 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATGGTGTCGCAGTGGGGGCT 0.607000 5 99 0 0 0.217242 0 0 HMHA1 23526 broad.mit.edu 37 19 1068742 1068742 + Splice_Site SNP C C T rs3764655 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:1068742C>T ENST00000313093.2 + 2 651 c.421_splice c.e2+1 p.D140_splice HMHA1_ENST00000586866.1_Splice_Site_p.D144_splice|HMHA1_ENST00000536472.1_Intron|HMHA1_ENST00000590214.1_Splice_Site_p.D167_splice|HMHA1_ENST00000539243.2_Splice_Site_p.D156_splice NM_012292.3 NP_036424.2 Q92619 HMHA1_HUMAN histocompatibility (minor) HA-1 140 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding p.D140D(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2) 16 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGTTGCGTGACGGTGAGAGCC 0.652000 13 143 0 0 0.411799 0 0 ZNF700 90592 broad.mit.edu 37 19 12060642 12060642 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:12060642C>T ENST00000482090.1 + 3 2167 c.1749C>T c.(1747-1749)ttC>ttT p.F583F ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.F601F|CTD-2006C1.12_ENST00000586394.1_RNA Q9H0M5 ZN700_HUMAN zinc finger protein 700 601 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 GGAAAGCCTTCAGTTGTGCCT 0.478000 6 184 0 0 0.278610 0 0 ZNF317 57693 broad.mit.edu 37 19 9271970 9271970 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:9271970G>A ENST00000247956.6 + 7 1954 c.1649G>A c.(1648-1650)cGg>cAg p.R550Q ZNF317_ENST00000360385.3_Missense_Mutation_p.R518Q NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 550 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R550Q(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 GTGCACAGGCGGATCCACACC 0.587000 5 128 0 0 0.184627 0 0 COL4A2 1284 broad.mit.edu 37 13 111156530 111156530 + Nonsense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr13:111156530G>T ENST00000360467.5 + 45 4627 c.4321G>T c.(4321-4323)Gga>Tga p.G1441* COL4A2-AS1_ENST00000417970.2_RNA NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1441 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding p.G1441*(1) NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) TGGGCCCCAAGGAAGAGGTGG 0.622000 12 122 2.27111e-07 2.48627e-07 0.411799 1 0 OR52N4 390072 broad.mit.edu 37 11 5776704 5776704 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:5776704C>T ENST00000317254.3 + 1 782 c.734C>T c.(733-735)gCc>gTc p.A245V TRIM5_ENST00000380027.1_Intron NM_001005175.2 NP_001005175.3 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene) 245 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) ACCTGCACTGCCCACATTTGT 0.493000 6 239 0 0 0.278610 0 0 PCDHA13 0 broad.mit.edu 37 5 140263967 140263967 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:140263967G>A ENST00000289272.2 + 1 2114 c.2114G>A c.(2113-2115)tGc>tAc p.C705Y PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.C705Y|PCDHA5_ENST00000529859.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGCCATCTGCGCGGTGTCC 0.662000 12 204 0 0 0.457914 0 0 GNB2 2783 broad.mit.edu 37 7 100275276 100275276 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:100275276C>T ENST00000303210.4 + 6 905 c.423C>T c.(421-423)ggC>ggT p.G141G GNB2_ENST00000393926.1_Silent_p.G141G|GNB2_ENST00000419828.1_Silent_p.G41G|GNB2_ENST00000424361.1_Silent_p.G97G|GNB2_ENST00000393924.1_Silent_p.G141G|GNB2_ENST00000427895.1_Silent_p.G41G|GNB2_ENST00000436220.1_Silent_p.G97G NM_005273.3 NP_005264.2 P62879 GBB2_HUMAN guanine nucleotide binding protein (G protein), beta polypeptide 2 141 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity p.G141G(1) endometrium(1)|lung(3)|ovary(2)|prostate(1) 7 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) AGCTGCCTGGCCACACTGGTG 0.657000 4 128 0 0 0.150653 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185269161 185269161 + Silent SNP A A G TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:185269161A>G ENST00000367498.3 - 13 2093 c.1471T>C c.(1471-1473)Ttg>Ctg p.L491L IVNS1ABP_ENST00000392007.3_Silent_p.L273L|IVNS1ABP_ENST00000459929.1_5'UTR NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 491 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex p.L491L(1) breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 CTTGTCCACAACTTTGTTACA 0.353000 10 58 0 0 0.335167 0 0 ACKR6 0 broad.mit.edu 37 17 6381355 6381355 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:6381355C>T ENST00000262483.8 - 8 927 c.840G>A c.(838-840)gcG>gcA p.A280A ACKR6_ENST00000421306.3_Silent_p.A244A NM_031220.3 NP_112497.2 p.A280A(2) CTGAGGGCCCCGCACTGTAGC 0.672000 21 141 0 0 0.624587 0 0 PCDHA2 0 broad.mit.edu 37 5 140176233 140176233 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:140176233G>A ENST00000526136.1 + 1 1684 c.1684G>A c.(1684-1686)Gcg>Acg p.A562T PCDHA2_ENST00000520672.2_Missense_Mutation_p.A562T|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A562T|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 p.A562T(4) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGACAACGCGCCGGCACT 0.697000 13 216 0 0 0.500413 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79629650 79629650 + Silent SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr8:79629650C>T ENST00000263849.4 + 9 1002 c.900C>T c.(898-900)tgC>tgT p.C300C NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 300 CAAAATTCTGCCATGAGTGTG 0.373000 8 243 0 0 0.307466 0 0 NUMA1 0 broad.mit.edu 37 11 71725778 71725778 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:71725778C>T ENST00000393695.3 - 15 3102 c.2771G>A c.(2770-2772)cGc>cAc p.R924H NUMA1_ENST00000358965.6_Missense_Mutation_p.R924H|NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA NM_006185.2 NP_006176.2 Q14980 NUMA1_HUMAN nuclear mitotic apparatus protein 1 924 G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole protein binding|structural molecule activity p.R924H(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 65 ACCTGCCTTGCGCACCAAGGT 0.602000 T RARA APL 9 144 0 0 0.361761 0 0 KCNK13 56659 broad.mit.edu 37 14 90650708 90650708 + Silent SNP C C T rs114616148 by1000genomes TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:90650708C>T ENST00000282146.4 + 2 1029 c.588C>T c.(586-588)taC>taT p.Y196Y NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 196 integral to membrane potassium channel activity|voltage-gated ion channel activity p.Y196Y(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CCGTGTACTACGTCATGCTGA 0.612000 20 243 0 0 0.592651 0 0 TCAIM 285343 broad.mit.edu 37 3 44442728 44442728 + Silent SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:44442728G>T ENST00000342649.4 + 10 1579 c.1152G>T c.(1150-1152)ggG>ggT p.G384G TCAIM_ENST00000417237.1_Silent_p.G384G NM_173826.3 NP_776187.2 T cell activation inhibitor, mitochondrial ATGAACTCGGGCATTTTAATA 0.413000 8 167 1.12685e-05 1.20817e-05 0.307466 1 0 TRIM32 22954 broad.mit.edu 37 9 119461051 119461051 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:119461051C>T ENST00000450136.1 + 2 1191 c.1030C>T c.(1030-1032)Cgg>Tgg p.R344W ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R344W|ASTN2_ENST00000373996.3_Intron NM_001099679.1|NM_012210.3 NP_001093149.1|NP_036342.2 Q13049 TRI32_HUMAN tripartite motif containing 32 344 fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding p.R344W(2) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 26 TGCTAAACAGCGGGGTCCTGA 0.557000 5 113 0 0 0.184627 0 0 FLNA 0 broad.mit.edu 37 X 153587627 153587627 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chrX:153587627G>A ENST00000422373.1 - 25 4538 c.4290C>T c.(4288-4290)ggC>ggT p.G1430G FLNA_ENST00000369850.3_Silent_p.G1430G|FLNA_ENST00000344736.4_Silent_p.G1430G|FLNA_ENST00000360319.4_Silent_p.G1430G NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1430 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding p.G1430G(2) breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCACTTGATGGCCACCATAGG 0.612000 9 69 0 0 0.361761 0 0 PCDHB15 0 broad.mit.edu 37 5 140626634 140626634 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:140626634G>A ENST00000231173.3 + 1 1488 c.1488G>A c.(1486-1488)ccG>ccA p.P496P NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 496 Cadherin 5. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCGGGACCCGCACCTGCCCC 0.657000 7 327 0 0 0.278610 0 0 MYH15 22989 broad.mit.edu 37 3 108229289 108229289 + Splice_Site SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:108229289C>T ENST00000273353.3 - 2 205 c.e2+1 NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ACATGTCTCACCATCCAAGGC 0.463000 4 104 0 0 0.150653 0 0 NDUFS6 4726 broad.mit.edu 37 5 1814479 1814479 + Silent SNP G G A rs35349407 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:1814479G>A ENST00000274137.5 + 3 231 c.213G>A c.(211-213)ttG>ttA p.L71L NDUFS6_ENST00000469176.1_Silent_p.L71L NM_004553.4 NP_004544.1 O75380 NDUS6_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) 71 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity p.L71L(1) central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1) 7 NADH(DB00157) CCATTGATTTGATAGCAGAGC 0.468000 7 147 0 0 0.278610 0 0 ZNF574 64763 broad.mit.edu 37 19 42584668 42584668 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:42584668G>A ENST00000600245.1 + 2 2565 c.1910G>A c.(1909-1911)cGc>cAc p.R637H ZNF574_ENST00000222339.7_Missense_Mutation_p.R727H|ZNF574_ENST00000359044.4_Missense_Mutation_p.R637H Q6ZN55 ZN574_HUMAN zinc finger protein 574 637 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R637H(1) endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Prostate(69;0.059) CAGCCCCACCGCTGCCCATCC 0.701000 10 199 0 0 0.361761 0 0 LAMC1 3915 broad.mit.edu 37 1 183106827 183106827 + Missense_Mutation SNP A A C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:183106827A>C ENST00000258341.4 + 26 4595 c.4338A>C c.(4336-4338)gaA>gaC p.E1446D NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 1446 Domain II and I. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent p.E1446D(2) NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCAAGGCAGAAGCTGAAAGAA 0.373000 8 66 0 0 0.307466 0 0 MPP3 4356 broad.mit.edu 37 17 41891642 41891642 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:41891642G>A ENST00000398393.1 - 13 1432 c.1172C>T c.(1171-1173)cCg>cTg p.P391L MPP3_ENST00000398389.4_Missense_Mutation_p.P366L|MPP3_ENST00000475450.1_5'UTR Q13368 MPP3_HUMAN membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) 366 Guanylate kinase-like. signal transduction cell surface|integral to plasma membrane guanylate kinase activity p.P366L(1) endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) CAGCAGCTCCGGAGACTCAGC 0.632000 13 279 0 0 0.411799 0 0 NCOA3 8202 broad.mit.edu 37 20 46279860 46279860 + Silent SNP G G A rs151060280 byFrequency TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr20:46279860G>A ENST00000372004.3 + 20 3990 c.3774G>A c.(3772-3774)caG>caA p.Q1258Q NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 1262 Acetyltransferase.|Poly-Gln. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding p.Q1262Q(1) breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 agcagcagcagcagcaacagc 0.567000 5 88 0 0 0.184627 0 0 TBC1D8 11138 broad.mit.edu 37 2 101656775 101656775 + Silent SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:101656775G>A ENST00000409318.1 - 6 1075 c.945C>T c.(943-945)caC>caT p.H315H TBC1D8_ENST00000376840.4_Silent_p.H300H NM_001102426.1 NP_001095896.1 O95759 TBCD8_HUMAN TBC1 domain family, member 8 (with GRAM domain) 300 GRAM 2. blood circulation|positive regulation of cell proliferation intracellular|membrane calcium ion binding|Rab GTPase activator activity p.H300H(1)|p.H315H(1) breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 32 CCACAACCGCGTGCAGCTTCT 0.577000 17 45 0 0 0.520397 0 0 HOOK2 29911 broad.mit.edu 37 19 12881812 12881812 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:12881812C>T ENST00000264827.5 - 10 1006 c.836G>A c.(835-837)cGg>cAg p.R279Q HOOK2_ENST00000397668.3_Missense_Mutation_p.R279Q|HOOK2_ENST00000589965.1_Intron NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 279 Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding p.R279Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 CGCCTGGTTCCGGTGCTGCAG 0.652000 4 57 0 0 0.150653 0 0 MYH13 8735 broad.mit.edu 37 17 10212613 10212613 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:10212613G>A ENST00000418404.3 - 34 5270 c.5107C>T c.(5107-5109)Cgc>Tgc p.R1703C MYH13_ENST00000252172.4_Missense_Mutation_p.R1703C|MYH13_ENST00000570743.1_Missense_Mutation_p.R1703C Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 1703 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.R1703S(2) breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GACAGCCTGCGGGTCCGCTCC 0.667000 4 48 0 0 0.217242 0 0 TRPV4 59341 broad.mit.edu 37 12 110226321 110226321 + Missense_Mutation SNP G G T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:110226321G>T ENST00000418703.2 - 12 2186 c.2092C>A c.(2092-2094)Ctg>Atg p.L698M TRPV4_ENST00000541794.1_Missense_Mutation_p.L651M|TRPV4_ENST00000536838.1_Missense_Mutation_p.L664M|TRPV4_ENST00000346520.2_Missense_Mutation_p.L638M|TRPV4_ENST00000261740.2_Missense_Mutation_p.L698M|TRPV4_ENST00000392719.2_Missense_Mutation_p.L651M|TRPV4_ENST00000544971.1_Missense_Mutation_p.L591M|TRPV4_ENST00000537083.1_Missense_Mutation_p.L638M NM_001177431.1 NP_001170902.1 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, subfamily V, member 4 698 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding p.L698M(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 GTCACCAGCAGGATGATGAAG 0.567000 18 184 5.35267e-07 5.79872e-07 0.557998 1 0 MMRN2 79812 broad.mit.edu 37 10 88702968 88702968 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:88702968G>A ENST00000372027.4 - 6 1646 c.1573C>T c.(1573-1575)Cgg>Tgg p.R525W NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 525 extracellular space p.R525W(1) breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 AGCTGCCGCCGCTCGTCCAGG 0.697000 6 43 0 0 0.217242 0 0 GPX2 2877 broad.mit.edu 37 14 65409312 65409312 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:65409312G>A ENST00000389614.5 - 1 219 c.133C>T c.(133-135)Cgg>Tgg p.R45W CHURC1-FNTB_ENST00000542227.1_Intron|CHURC1-FNTB_ENST00000447296.2_Intron NM_002083.3 NP_002074.2 P18283 GPX2_HUMAN glutathione peroxidase 2 (gastrointestinal) 45 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity large_intestine(2)|ovary(1)|skin(1) 4 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) GTGAAGTCCCGGGTGGTTGTG 0.587000 4 142 0 0 0.184627 0 0 ALS2CL 259173 broad.mit.edu 37 3 46724745 46724745 + Silent SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:46724745C>A ENST00000318962.4 - 10 1067 c.984G>T c.(982-984)ctG>ctT p.L328L ALS2CL_ENST00000415953.1_Silent_p.L328L NM_147129.3 NP_667340.2 Q60I27 AL2CL_HUMAN ALS2 C-terminal like 328 endosome organization|regulation of Rho protein signal transduction GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2) 29 BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202) GGCCAGCCCCCAGCACGGGGA 0.672000 3 22 0.004672 0.0048833 0.115264 1 0 MUS81 80198 broad.mit.edu 37 11 65633329 65633329 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:65633329C>T ENST00000308110.4 + 15 1902 c.1553C>T c.(1552-1554)aCa>aTa p.T518I MUS81_ENST00000525006.1_3'UTR|MUS81_ENST00000533035.1_Missense_Mutation_p.T443I NM_025128.4 NP_079404.3 Q96NY9 MUS81_HUMAN MUS81 structure-specific endonuclease subunit 518 DNA recombination|DNA repair nucleolus 3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1) 13 READ - Rectum adenocarcinoma(159;0.166) GAACAAGAGACACTGCTGAGC 0.637000 Homologous recombination 5 217 0 0 0.184627 0 0 PTGER2 5732 broad.mit.edu 37 14 52781586 52781586 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:52781586G>A ENST00000245457.5 + 1 474 c.320G>A c.(319-321)cGc>cAc p.R107H PTGER2_ENST00000557436.1_Intron NM_000956.3 NP_000947.2 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 107 integral to plasma membrane prostaglandin E receptor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CCCGAGAGCCGCGCGTGCACC 0.647000 4 114 0 0 0.150653 0 0 CCDC157 550631 broad.mit.edu 37 22 30768247 30768247 + Missense_Mutation SNP G G A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr22:30768247G>A ENST00000405659.1 + 7 2016 c.1307G>A c.(1306-1308)cGt>cAt p.R436H CCDC157_ENST00000338306.3_Missense_Mutation_p.R436H Q569K6 CC157_HUMAN coiled-coil domain containing 157 436 central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 15 GAGAAGGCCCGTGTCGACAGC 0.662000 5 15 0 0 0.217242 0 0 DHX37 57647 broad.mit.edu 37 12 125465071 125465071 + Missense_Mutation SNP C C T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:125465071C>T ENST00000308736.2 - 4 801 c.703G>A c.(703-705)Gtc>Atc p.V235I DHX37_ENST00000544745.1_Missense_Mutation_p.V22I NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 235 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGGATGAAGACGGCGGGCTTA 0.647000 4 81 0 0 0.184627 0 0 AQP7 364 broad.mit.edu 37 9 33385585 33385585 + Missense_Mutation SNP C C A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:33385585C>A ENST00000541274.1 - 5 859 c.410G>T c.(409-411)gGg>gTg p.G137V AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CACCCCCCACCCCTCAACACA 0.602000 4 125 0.00307968 0.00323522 0.278610 1 0 ENTPD6 0 broad.mit.edu 37 20 25195565 25195565 + Silent SNP C C T rs146741054 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr20:25195565C>T ENST00000360031.2 + 6 839 c.657C>T c.(655-657)aaC>aaT p.N219N ENTPD6_ENST00000376652.4_Silent_p.N220N|ENTPD6_ENST00000433259.2_Silent_p.N220N|ENTPD6_ENST00000354989.5_Silent_p.N203N NM_001247.2 NP_001238.2 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 (putative) 220 Golgi membrane|integral to membrane nucleoside-diphosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1) 27 CCATCATGAACGGAACAGATG 0.463000 4 63 0 0 0.150653 0 0 UBR4 23352 broad.mit.edu 37 1 19467923 19467923 + Frame_Shift_Del DEL G G - rs145307465 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:19467923delG ENST00000375267.2 - 57 8409 c.8406delC c.(8404-8406)ccfs p.P2802fs UBR4_ENST00000375226.2_Frame_Shift_Del_p.P2813fs|UBR4_ENST00000375217.2_Frame_Shift_Del_p.P2830fs|UBR4_ENST00000375254.3_Frame_Shift_Del_p.P2802fs Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2802 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGTCCAGCATGGGGGGGAAGC 0.587 9 178 --- --- --- --- KANK4 163782 broad.mit.edu 37 1 62740427 62740427 + Frame_Shift_Del DEL G G - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:62740427delG ENST00000371153.4 - 3 727 c.349delC c.(349-351)agfs p.Q117fs KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 117 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 GTTGAGGCCTGGGGGGCATTA 0.607 15 53 --- --- --- --- TP53BP2 7159 broad.mit.edu 37 1 223985959 223985959 + Frame_Shift_Del DEL C C - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:223985959delC ENST00000391878.2 - 13 2287 c.1519delG c.(1519-1521)cgfs p.A507fs TP53BP2_ENST00000391879.2_Intron|TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000343537.7_Frame_Shift_Del_p.A636fs NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 630 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TTGGTCAACGCGCTCTGCACA 0.478 9 241 --- --- --- --- OR2M7 391196 broad.mit.edu 37 1 248487570 248487570 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr1:248487570delT ENST00000317965.2 - 1 329 c.301delA c.(301-303)ttfs p.I101fs NM_001004691.1 NP_001004691.1 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, member 7 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3) 42 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TAGAAGAAAATTTGTGTGGCA 0.468 9 513 --- --- --- --- THADA 63892 broad.mit.edu 37 2 43458187 43458187 + Frame_Shift_Del DEL A A - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:43458187delA ENST00000405006.4 - 38 6113 c.5762delT c.(5761-5763)tgfs p.L1921fs AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Frame_Shift_Del_p.L1602fs|THADA_ENST00000405975.2_Frame_Shift_Del_p.L1921fs|THADA_ENST00000330266.7_Intron NM_001083953.1|NM_001271643.1 NP_001077422.1|NP_001258572.1 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1921 binding breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 66 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) CTTTCCTTCCAAAAAGGCCAG 0.488 7 78 --- --- --- --- IL1F10 84639 broad.mit.edu 37 2 113832281 113832282 + Frame_Shift_Del DEL TC TC - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:113832281_113832282delTC ENST00000337569.3 + 3 175_176 c.100_101delTC c.(100-102)tfs p.S34fs IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron Q8WWZ1 IL1FA_HUMAN interleukin 1 family, member 10 (theta) 34 extracellular space cytokine activity|interleukin-1 receptor antagonist activity endometrium(1)|lung(6)|ovary(1) 8 CCTTGACTCTTCTCTCTCTTCC 0.584 16 321 --- --- --- --- AC016683.6 0 broad.mit.edu 37 2 113970873 113970873 + RNA DEL G G - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:113970873delG ENST00000456685.1 + 0 98 AGAGGACAAAGgggagaggga 0.617 2 4 --- --- --- --- ARHGAP15 55843 broad.mit.edu 37 2 144381770 144381770 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr2:144381770delT ENST00000295095.6 + 12 1239 c.1072delT c.(1072-1074)ttfs p.F359fs NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 359 Rho-GAP. regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) ACTGAAGATGTTTTTCCGGGA 0.502 15 87 --- --- --- --- HSPD1P6 0 broad.mit.edu 37 3 36810381 36810381 + RNA DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:36810381delT ENST00000424886.1 - 0 405 GAGTGAGGCCttttttttttt 0.542 4 8 --- --- --- --- MST1R 4486 broad.mit.edu 37 3 49940112 49940112 + Frame_Shift_Del DEL C C - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr3:49940112delC ENST00000296474.3 - 1 958 c.931delG c.(931-933)ccfs p.A311fs MST1R_ENST00000344206.4_Frame_Shift_Del_p.A311fs|CTD-2330K9.2_ENST00000435478.1_RNA NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 311 Sema. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CCTTCTGGGGCCCCCCGGCGC 0.667 8 343 --- --- --- --- ENAM 10117 broad.mit.edu 37 4 71509665 71509666 + Frame_Shift_Ins INS - - AG TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:71509665_71509666insAG ENST00000396073.3 + 9 2803_2804 c.2522_2523insAG c.(2521-2523)cgafs p.R841fs ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 841 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) ATGAATTCTCCAGAGAGAGAAC 0.421 15 145 --- --- --- --- TET2 54790 broad.mit.edu 37 4 106158589 106158589 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:106158589delT ENST00000305737.2 + 3 3894 c.3490delT c.(3490-3492)ttfs p.F1165fs TET2_ENST00000413648.2_Intron|TET2_ENST00000545826.1_Intron|TET2_ENST00000380013.4_Intron|TET2_ENST00000394764.1_Frame_Shift_Del_p.F1165fs|TET2_ENST00000513237.1_Intron|TET2_ENST00000540549.1_Intron NM_017628.4 NP_060098.3 Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 0 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) ATTTTCCTTCTTTTTTTAAAT 0.368 """Mis N, F""" MDS 8 92 --- --- --- --- AGA 175 broad.mit.edu 37 4 178352896 178352896 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr4:178352896delT ENST00000264595.2 - 9 1134 c.1007delA c.(1006-1008)atfs p.N336fs NM_000027.3|NM_001171988.1 NP_000018.2|NP_001165459.1 P20933 ASPG_HUMAN aspartylglucosaminidase 336 asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2) 16 all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245) all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163) AGTTGGCTGATTTTTTTCGGA 0.368 8 89 --- --- --- --- DIMT1 27292 broad.mit.edu 37 5 61688029 61688029 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr5:61688029delT ENST00000199320.4 - 10 921 c.761delA c.(760-762)acfs p.N254fs KIF2A_ENST00000509663.2_Intron|DIMT1_ENST00000506390.1_Frame_Shift_Del_p.N254fs NM_014473.2 NP_055288.1 Q9UNQ2 DIMT1_HUMAN DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) 254 nucleolus RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity AATTCTGTAGTTTTTTTCCAA 0.299 7 185 --- --- --- --- PHF3 23469 broad.mit.edu 37 6 64415953 64415953 + Frame_Shift_Del DEL A A - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr6:64415953delA ENST00000262043.3 + 12 3742 c.3402delA c.(3400-3402)ccfs p.P1134fs PHF3_ENST00000393387.1_Frame_Shift_Del_p.P1134fs Q92576 PHF3_HUMAN PHD finger protein 3 1134 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) ATCTTTCTCCAAAAAAAGTAA 0.358 7 61 --- --- --- --- CEP41 95681 broad.mit.edu 37 7 130041784 130041785 + Frame_Shift_Del DEL TG TG - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr7:130041784_130041785delTG ENST00000223208.4 - 8 849_850 c.579_580delCA c.(577-582)tagtfs p.YS193fs CEP41_ENST00000541543.1_Frame_Shift_Del_p.YS177fs|CEP41_ENST00000343969.5_Frame_Shift_Del_p.YS193fs NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa 193 Rhodanese. G2/M transition of mitotic cell cycle centrosome|cytosol ATTGGGTAACTGTAAGCTGCAA 0.342 7 86 --- --- --- --- SLC25A25 114789 broad.mit.edu 37 9 130866086 130866087 + Frame_Shift_Ins INS - - C TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr9:130866086_130866087insC ENST00000373066.5 + 6 1116_1117 c.709_710insC c.(709-711)cccfs p.P237fs SLC25A25_ENST00000433501.1_Frame_Shift_Ins_p.P102fs|SLC25A25_ENST00000432073.2_Frame_Shift_Ins_p.P225fs|SLC25A25_ENST00000373064.5_Frame_Shift_Ins_p.P205fs|SLC25A25_ENST00000373068.2_Frame_Shift_Ins_p.P239fs|SLC25A25_ENST00000373069.5_Frame_Shift_Ins_p.P251fs NM_001265614.2 NP_001252543.1 Q6KCM7 SCMC2_HUMAN solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25 205 transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3) 10 AACCTGCACGGCCCCCCTGGAC 0.639 16 95 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50680468 50680469 + Frame_Shift_Del DEL AC AC - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:50680468_50680469delAC ENST00000355832.5 - 16 2955_2956 c.2877_2878delGT c.(2875-2880)gtacfs p.VY959fs RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Frame_Shift_Del_p.VY329fs NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 959 Helicase C-terminal. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AGGAGCCTGTACACAGTCACTT 0.550 Direct reversal of damage;Nucleotide excision repair (NER) 8 298 --- --- --- --- TCF7L2 6934 broad.mit.edu 37 10 114925494 114925494 + Frame_Shift_Del DEL C C - rs61724286 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr10:114925494delC ENST00000355995.4 + 15 2130 c.1623delC c.(1621-1623)gafs p.D541fs TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.D518fs|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.D524fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.D541fs|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369386.1_3'UTR|TCF7L2_ENST00000542695.1_Frame_Shift_Del_p.D257fs Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 541 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) TGAAGCCCGACCCCCTGGCCC 0.697 T VTI1A colorectal 49 188 --- --- --- --- TRIM5 85363 broad.mit.edu 37 11 5686351 5686352 + Frame_Shift_Ins INS - - T TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr11:5686351_5686352insT ENST00000305836.5 - 8 1471_1472 c.1169_1170insA c.(1168-1170)agafs p.R390fs TRIM5_ENST00000396847.3_3'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000380034.3_Frame_Shift_Ins_p.R390fs|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000483835.1_Intron Q9C035 TRIM5_HUMAN tripartite motif containing 5 390 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) GATAATTTTCATTTTTTTCAAT 0.421 11 223 --- --- --- --- CCDC92 80212 broad.mit.edu 37 12 124422263 124422263 + Frame_Shift_Del DEL T T - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr12:124422263delT ENST00000545135.1 - 3 3583 c.287delA c.(286-288)acfs p.N96fs CCDC92_ENST00000545891.1_Frame_Shift_Del_p.N96fs|CCDC92_ENST00000238156.3_Frame_Shift_Del_p.N113fs|CCDC92_ENST00000544798.1_Intron Q53HC0 CCD92_HUMAN coiled-coil domain containing 92 113 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) GATCATCGCGTTTTTCTGCTC 0.463 33 415 --- --- --- --- ESRRAP2 0 broad.mit.edu 37 13 21835723 21835728 + RNA DEL GGCGAG GGCGAG - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr13:21835723_21835728delGGCGAG ENST00000427890.1 + 0 61 GATGGACTGAGGCGAGGGGTGGGACT 0.646 5 5 --- --- --- --- HOMEZ 57594 broad.mit.edu 37 14 23745310 23745310 + Frame_Shift_Del DEL A A - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:23745310delA ENST00000357460.5 - 2 1291 c.1127delT c.(1126-1128)tafs p.L376fs HOMEZ_ENST00000561013.1_Frame_Shift_Del_p.L378fs|HOMEZ_ENST00000431326.2_Frame_Shift_Del_p.L378fs NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 376 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.L376fs*14(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) CTGGCACTGTAAAAAAAAGGA 0.488 22 91 --- --- --- --- MAP3K9 4293 broad.mit.edu 37 14 71275774 71275776 + In_Frame_Del DEL CCT CCT - rs3832971 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr14:71275774_71275776delCCT ENST00000554752.2 - 1 112_114 c.113_115delAGG c.(112-117)gcg>g p.EA38del MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 38 Ala-rich.|Poly-Glu. activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity p.E38delE(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) GCCGCCGCCGcctcctcctcctc 0.773 4 9 --- --- --- --- SNRPN 6638 broad.mit.edu 37 15 25223444 25223444 + Frame_Shift_Del DEL C C - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:25223444delC ENST00000444203.2 + 7 1715 c.676delC c.(676-678)ccfs p.P229fs SNRPN_ENST00000577565.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400098.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000554227.2_Frame_Shift_Del_p.P229fs|SNRPN_ENST00000400100.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000400097.1_Frame_Shift_Del_p.P225fs|SNRPN_ENST00000390687.4_Frame_Shift_Del_p.P225fs|SNURF_ENST00000338094.6_3'UTR|SNRPN_ENST00000346403.6_Frame_Shift_Del_p.P225fs P63162 RSMN_HUMAN small nuclear ribonucleoprotein polypeptide N 225 Repeat-rich region. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex identical protein binding|RNA binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) GGGAATGAGACCCCCTCCACC 0.552 Prader-Willi syndrome 14 256 --- --- --- --- HMGN2P46 0 broad.mit.edu 37 15 45829639 45829640 + RNA INS - - A TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:45829639_45829640insA ENST00000409454.1 + 0 682 AGAAGACTTGGAAAAAAATATA 0.361 3 3 --- --- --- --- IDH3A 3419 broad.mit.edu 37 15 78455875 78455875 + Frame_Shift_Del DEL A A - TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr15:78455875delA ENST00000299518.2 + 7 721 c.638delA c.(637-639)cafs p.Q213fs IDH3A_ENST00000559205.1_Intron|IDH3A_ENST00000558554.1_Frame_Shift_Del_p.Q178fs|IDH3A_ENST00000558535.1_3'UTR|IDH3A_ENST00000441490.2_Frame_Shift_Del_p.Q104fs NM_005530.2 NP_005521.1 P50213 IDH3A_HUMAN isocitrate dehydrogenase 3 (NAD+) alpha 213 carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 12 NADH(DB00157) CTTTTTCTACAAAAATGCAGG 0.303 7 147 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32077919 32077920 + RNA INS - - TTT rs4026454 by1000genomes TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr16:32077919_32077920insTTT ENST00000566806.1 - 0 499 GAAAACGGTTATTTTTTTGTTC 0.426 2 4 --- --- --- --- AC015922.5 0 broad.mit.edu 37 17 15737072 15737073 + RNA INS - - TTTA rs71838018 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr17:15737072_15737073insTTTA ENST00000584636.1 + 0 316 CTCTATCCTGCTTTATCTTGGA 0.460 2 4 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56246441 56246442 + Frame_Shift_Ins INS - - C rs12606191 byFrequency TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr18:56246441_56246442insC ENST00000361673.3 - 4 1779_1780 c.1566_1567insG c.(1564-1569)ggaggafs p.G523fs ALPK2_ENST00000587399.1_5'UTR NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 523 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 CATAAGTCCTTTCCCCCCACTC 0.520 OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 51 286 --- --- --- --- KIR2DL4 0 broad.mit.edu 37 19 55324675 55324675 + Frame_Shift_Del DEL A A - rs148484482 TCGA-CH-5769-01A-11D-1576-08 TCGA-CH-5769-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx e552db18-3b5e-43c6-a1b7-ab78d3f2404c 35af79db-a9a4-4373-b07e-bb3a09a0b870 g.chr19:55324675delA ENST00000396284.2 + 6 796 c.796delA c.(796-798)aafs p.K268fs KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 p.M271fs*>3(1) NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1) 17 GBM - Glioblastoma multiforme(193;0.0192) CTGGTGCTCCAAAAAAAAAGT 0.532 2 4 --- --- --- ---