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 CD160 11126 broad.mit.edu 37 1 145699074 145699074 + Silent SNP T T A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:145699074T>A ENST00000369290.1 - 3 247 c.90A>T c.(88-90)acA>acT p.T30T CD160_ENST00000401557.3_Silent_p.T139T|CD160_ENST00000369288.2_Silent_p.T139T|CD160_ENST00000235933.6_Silent_p.T139T O95971 BY55_HUMAN CD160 molecule 139 Ig-like V-type. cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response anchored to plasma membrane MHC class I receptor activity|receptor binding p.T139T(1) endometrium(3)|large_intestine(2)|lung(2) 7 all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786) KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229) ATCCCGTCACTGTGTAGTTCC 0.433000 32 74 0 0 0.003271 0 0 OTUD7B 56957 broad.mit.edu 37 1 149936222 149936222 + Silent SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:149936222T>C ENST00000369135.3 - 6 951 c.657A>G c.(655-657)gcA>gcG p.A219A OTUD7B_ENST00000479905.1_5'UTR NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 219 Catalytic.|OTU.|TRAF-binding. negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding p.A219A(1) breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247) TCTCCATCAGTGCATACAAAG 0.517000 83 119 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179615912 179615912 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:179615912T>C ENST00000360870.5 - 46 11437 c.11215A>G c.(11215-11217)Aaa>Gaa p.K3739E TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 9587 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGAATATCTTTATCACTAGCT 0.338000 33 126 0 0 0.001786 0 0 GPRC6A 222545 broad.mit.edu 37 6 117113394 117113394 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:117113394G>T ENST00000310357.3 - 6 2713 c.2692C>A c.(2692-2694)Ctt>Att p.L898I GPRC6A_ENST00000530250.1_Missense_Mutation_p.L723I|GPRC6A_ENST00000368549.3_Missense_Mutation_p.L827I NM_148963.2 NP_683766.2 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, member A 898 response to amino acid stimulus G-protein coupled receptor activity p.L898I(1) autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3) 65 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGTGCCTGAAGATCTTTGCTT 0.453000 8 222 2.17888e-05 8.94621e-05 0.006214 1 0 SDHAP1 255812 broad.mit.edu 37 3 195717102 195717102 + RNA SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:195717102A>G ENST00000427841.1 - 0 48 NR_003264.2 GCGCTTGGCAACCGCGACAGG 0.776000 3 11 0 0 0.000248 0 0 EXPH5 23086 broad.mit.edu 37 11 108383265 108383265 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr11:108383265T>C ENST00000265843.4 - 6 3079 c.2969A>G c.(2968-2970)gAa>gGa p.E990G EXPH5_ENST00000428840.1_Missense_Mutation_p.E914G|EXPH5_ENST00000525344.1_Missense_Mutation_p.E983G|EXPH5_ENST00000443411.1_Missense_Mutation_p.E802G NM_015065.2 NP_055880.2 Q149M6 Q149M6_HUMAN exophilin 5 990 intracellular protein transport Rab GTPase binding p.E990G(1) breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TGATATACTTTCTGTTTTGCT 0.363000 30 119 0 0 0.002836 0 0 SLC7A14 57709 broad.mit.edu 37 3 170198379 170198379 + Silent SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:170198379C>A ENST00000231706.4 - 7 2007 c.1692G>T c.(1690-1692)acG>acT p.T564T CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron NM_020949.2 NP_066000.2 Q8TBB6 S7A14_HUMAN solute carrier family 7, member 14 564 integral to membrane amino acid transmembrane transporter activity p.T564T(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) AGATGGTCACCGTGTGCCCCG 0.532000 61 22 2.18419e-29 1.07364e-28 0.003610 1 0 CPB1 1360 broad.mit.edu 37 3 148562468 148562468 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:148562468G>A ENST00000491148.1 + 9 1026 c.692G>A c.(691-693)cGa>cAa p.R231Q CPB1_ENST00000282957.4_Missense_Mutation_p.R231Q P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 231 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding p.R231Q(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TTTCAGAGCCGATTTTGGAGA 0.443000 64 34 0 0 0.003610 0 0 SLAMF6 114836 broad.mit.edu 37 1 160460449 160460449 + Missense_Mutation SNP T T G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:160460449T>G ENST00000368059.3 - 4 742 c.673A>C c.(673-675)Aaa>Caa p.K225Q SLAMF6_ENST00000368057.3_Missense_Mutation_p.K225Q|SLAMF6_ENST00000368055.1_Missense_Mutation_p.K114Q NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 225 integral to membrane|plasma membrane receptor activity p.K225Q(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) AGAATCATTTTGGTATCTGTA 0.383000 5 126 0 0 0.001168 0 0 OR13F1 138805 broad.mit.edu 37 9 107266550 107266550 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr9:107266550C>A ENST00000334726.2 + 1 96 c.7C>A c.(7-9)Ccg>Acg p.P3T NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P3T(1) endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 AAAAATGTTCCCGGCAAATTG 0.383000 33 48 1.04352e-10 4.49614e-10 0.003755 1 0 BPI 671 broad.mit.edu 37 20 36952397 36952397 + Silent SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr20:36952397G>A ENST00000262865.4 + 8 983 c.894G>A c.(892-894)ggG>ggA p.G298G CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR NM_001725.2 NP_001716.2 P17213 BPI_HUMAN bactericidal/permeability-increasing protein 298 defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production extracellular region|integral to plasma membrane lipid binding|lipopolysaccharide binding p.G298G(1) kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 30 Myeloproliferative disorder(115;0.00878) ACACAGCCGGGCTTGTATACC 0.557000 30 33 0 0 0.002836 0 0 TRIM23 373 broad.mit.edu 37 5 64890374 64890374 + Missense_Mutation SNP G G C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:64890374G>C ENST00000231524.9 - 10 1890 c.1519C>G c.(1519-1521)Ctg>Gtg p.L507V TRIM23_ENST00000381018.3_Missense_Mutation_p.L507V|TRIM23_ENST00000274327.7_Missense_Mutation_p.L507V NM_001656.3 NP_001647.1 P36406 TRI23_HUMAN tripartite motif containing 23 507 ARF-like. interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.L507V(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) ATCAGGAGCAGAGCATCTCGG 0.358000 57 100 0 0 0.003610 0 0 PCDHA6 56142 broad.mit.edu 37 5 140207997 140207997 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:140207997G>T ENST00000529310.1 + 1 435 c.321G>T c.(319-321)gaG>gaT p.E107D PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E107D|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 p.E107D(2) NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCACCTGGAGGTGATCGTGG 0.567000 94 159 1.6041e-38 8.23279e-38 0.003610 1 0 OSBPL6 114880 broad.mit.edu 37 2 179247751 179247751 + Splice_Site SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:179247751T>C ENST00000190611.4 + 17 1998 c.1621_splice c.e17-1 p.I541_splice OSBPL6_ENST00000359685.3_Splice_Site_p.I505_splice|OSBPL6_ENST00000409045.3_Splice_Site_p.I510_splice|OSBPL6_ENST00000315022.2_Splice_Site_p.I545_splice|OSBPL6_ENST00000409631.1_Splice_Site_p.I505_splice|OSBPL6_ENST00000392505.2_Splice_Site_p.I566_splice NM_032523.3 NP_115912.1 Q9BZF3 OSBL6_HUMAN oxysterol binding protein-like 6 541 lipid transport lipid binding p.I541T(1)|p.I566T(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CTTCTTCCAGTCCTGAATGGG 0.453000 44 57 0 0 0.003610 0 0 ATM 472 broad.mit.edu 37 11 108236107 108236107 + Nonsense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr11:108236107G>T ENST00000278616.4 + 63 9428 c.9043G>T c.(9043-9045)Gag>Tag p.E3015* C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Nonsense_Mutation_p.E3015*|ATM_ENST00000525178.1_3'UTR NM_000051.3 NP_000042.3 Q13315 ATM_HUMAN ataxia telangiectasia mutated 3015 cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E3015*(2) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GAGACTACAAGAGAAACTGAA 0.423000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 48 33 5.13769e-22 2.39074e-21 0.003610 1 0 COX10-AS1 100874058 broad.mit.edu 37 17 13927856 13927856 + RNA SNP T T C rs148981647 by1000genomes TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr17:13927856T>C ENST00000602743.1 - 0 224 TTCTCCACTTTGAGAGGTTGC 0.542000 3 30 0 0 0.001984 0 0 TC2N 123036 broad.mit.edu 37 14 92268648 92268648 + Nonsense_Mutation SNP A A T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr14:92268648A>T ENST00000435962.2 - 4 742 c.419T>A c.(418-420)tTg>tAg p.L140* TC2N_ENST00000340892.5_Nonsense_Mutation_p.L140*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.L140*|TC2N_ENST00000556018.1_Nonsense_Mutation_p.L140* NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 140 nucleus p.L140*(2) breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) GCGTCGACTCAAATCAGGTGA 0.418000 81 43 0 0 0.003610 0 0 OXCT1 5019 broad.mit.edu 37 5 41805723 41805723 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:41805723C>A ENST00000196371.5 - 9 1061 c.901G>T c.(901-903)Gta>Tta p.V301L OXCT1_ENST00000509987.1_Missense_Mutation_p.V115L NM_000436.3 NP_000427.1 P55809 SCOT1_HUMAN 3-oxoacid CoA transferase 1 301 cellular lipid metabolic process|ketone body catabolic process mitochondrial matrix 3-oxoacid CoA-transferase activity|protein homodimerization activity p.V301L(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2) 28 Succinic acid(DB00139) CGTTCCCTTACGTCATCTCCA 0.438000 53 110 1.74971e-23 8.25202e-23 0.003610 1 0 TAAR8 83551 broad.mit.edu 37 6 132874425 132874425 + Silent SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:132874425G>T ENST00000275200.1 + 1 594 c.594G>T c.(592-594)gtG>gtT p.V198V NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 198 plasma membrane G-protein coupled receptor activity p.V198V(1) endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) AAGGCTGGGTGTTGATAGATT 0.358000 24 93 6.21321e-17 2.74482e-16 0.002780 1 0 HECW1 23072 broad.mit.edu 37 7 43484237 43484237 + Missense_Mutation SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr7:43484237A>G ENST00000395891.1 + 11 2071 c.1466A>G c.(1465-1467)gAg>gGg p.E489G HECW1_ENST00000453890.1_Missense_Mutation_p.E489G NM_015052.3 NP_055867.3 Q76N89 HECW1_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 489 Glu-rich. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity p.E489G(1)|p.E468G(1) NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3) 125 CCCTTGGAGGAGGAAGCAACG 0.637000 12 13 0 0 0.001368 0 0 ALMS1 7840 broad.mit.edu 37 2 73830399 73830399 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:73830399C>G ENST00000264448.6 + 21 12438 c.12327C>G c.(12325-12327)atC>atG p.I4109M ALMS1_ENST00000409009.1_Missense_Mutation_p.I4067M|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4109 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.I4109M(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 ACAAGCCTATCAGCAAGAAGG 0.488000 11 22 0 0 0.002450 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414844 14414844 + RNA SNP T T C rs148060711 by1000genomes TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr21:14414844T>C ENST00000507941.1 + 0 95 ACTGGGCCTGTGCCAATGGCC 0.433000 4 40 0 0 0.000248 0 0 GABRA6 2559 broad.mit.edu 37 5 161112996 161112996 + Translation_Start_Site SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:161112996A>G ENST00000523217.1 + 1 243 c.1A>G c.(1-3)Atg>Gtg p.M1V GABRA6_ENST00000274545.5_Start_Codon_SNP_p.M1V|GABRA6_ENST00000522269.1_Intron NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 1 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity p.M1V(1) breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCACTGCAGGATGGCGTCGTC 0.463000 TCGA Ovarian(5;0.080) 11 125 0 0 0.001368 0 0 EPHB6 2051 broad.mit.edu 37 7 142564781 142564781 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr7:142564781G>T ENST00000392957.2 + 11 2492 c.1705G>T c.(1705-1707)Ggc>Tgc p.G569C EPHB6_ENST00000442129.1_Missense_Mutation_p.G569C|EPHB6_ENST00000411471.2_Missense_Mutation_p.G292C NM_004445.3 NP_004436.2 O15197 EPHB6_HUMAN EPH receptor B6 569 Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity p.G554C(1) NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TGCCGGCCACGGCCCCTACGG 0.627000 11 49 4.36969e-10 1.85978e-09 0.001855 1 0 NUP214 8021 broad.mit.edu 37 9 134015959 134015959 + Missense_Mutation SNP G G C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr9:134015959G>C ENST00000359428.5 + 11 1300 c.1156G>C c.(1156-1158)Gct>Cct p.A386P RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000451030.1_Missense_Mutation_p.A386P|NUP214_ENST00000411637.2_Missense_Mutation_p.A386P|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA P35658 NU214_HUMAN nucleoporin 214kDa 386 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding p.A386P(1) NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TCTTCCTCCTGCTCCAGTTCT 0.393000 T """DEK, SET, ABL1""" """AML, T-ALL""" 11 164 0 0 0.001855 0 0 CSMD3 114788 broad.mit.edu 37 8 113649131 113649131 + Silent SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:113649131C>T ENST00000297405.5 - 22 3874 c.3630G>A c.(3628-3630)tcG>tcA p.S1210S CSMD3_ENST00000343508.3_Silent_p.S1170S|CSMD3_ENST00000455883.2_Silent_p.S1106S|CSMD3_ENST00000352409.3_Silent_p.S1210S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1210 Sushi 6. integral to membrane|plasma membrane p.S1210S(2)|p.S1170S(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTCGATAACCCGAAGAGCATG 0.507000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 223 0 0 0.005443 0 0 CNTLN 54875 broad.mit.edu 37 9 17298270 17298270 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr9:17298270C>G ENST00000380647.3 + 7 1150 c.1066C>G c.(1066-1068)Cag>Gag p.Q356E CNTLN_ENST00000425824.1_Missense_Mutation_p.Q356E|CNTLN_ENST00000262360.5_Missense_Mutation_p.Q356E|CNTLN_ENST00000380641.4_Missense_Mutation_p.Q356E Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 356 centriole|membrane two-component sensor activity p.Q356E(1) breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CCAGCAGCTTCAGGTTCTCAA 0.403000 42 22 0 0 0.002522 0 0 BMS1P20 96610 broad.mit.edu 37 22 22661187 22661187 + RNA SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr22:22661187G>A ENST00000426066.1 + 0 279 NR_027293.1 CCCCCACCCCGTCATGTACAG 0.413000 5 35 0 0 0.001168 0 0 GLUL 2752 broad.mit.edu 37 1 182353654 182353654 + Silent SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:182353654G>A ENST00000311223.5 - 8 1904 c.1008C>T c.(1006-1008)taC>taT p.Y336Y GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Silent_p.Y336Y|GLUL_ENST00000339526.4_Silent_p.Y336Y|GLUL_ENST00000331872.6_Silent_p.Y336Y NM_002065.5 NP_002056.2 P15104 GLNA_HUMAN glutamate-ammonia ligase 336 cell proliferation|glutamine biosynthetic process|neurotransmitter uptake cytosol|Golgi apparatus|mitochondrion ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding p.Y336Y(1) endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1) 16 Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134) GATCTTCAAAGTAACCCTTCT 0.547000 5 82 0 0 0.000602 0 0 MYH1 4619 broad.mit.edu 37 17 10412919 10412919 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr17:10412919C>A ENST00000226207.5 - 15 1564 c.1470G>T c.(1468-1470)caG>caT p.Q490H CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 490 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.Q490H(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GGTTGAAAAACTGTTGCAGTT 0.433000 75 85 3.48418e-26 1.66573e-25 0.003610 1 0 FBXL7 23194 broad.mit.edu 37 5 15928027 15928027 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:15928027C>A ENST00000504595.1 + 3 637 c.156C>A c.(154-156)agC>agA p.S52R FBXL7_ENST00000329673.7_Missense_Mutation_p.S40R|FBXL7_ENST00000510662.1_Missense_Mutation_p.S5R NM_001278317.1|NM_012304.3 NP_001265246.1|NP_036436.1 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 52 ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity p.S52R(1) cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GCACACTGAGCACGCCCAGCC 0.587000 25 95 2.41591e-17 1.08097e-16 0.004656 1 0 MAB21L2 10586 broad.mit.edu 37 4 151504477 151504477 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr4:151504477T>C ENST00000317605.4 + 1 1401 c.296T>C c.(295-297)gTg>gCg p.V99A LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron NM_006439.4 NP_006430.1 Q9Y586 MB212_HUMAN mab-21-like 2 (C. elegans) 99 nervous system development nucleus p.V99A(1) breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2) 21 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) GGCTGCGCAGTGCTCAAACTG 0.597000 18 76 0 0 0.007413 0 0 CASR 846 broad.mit.edu 37 3 122002536 122002536 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:122002536G>A ENST00000498619.1 + 7 2203 c.1765G>A c.(1765-1767)Gcc>Acc p.A589T CASR_ENST00000490131.1_Missense_Mutation_p.A579T|CASR_ENST00000296154.5_Missense_Mutation_p.A579T NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 579 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity p.A579T(1) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TTTTACAGATGCCAGTGCCTG 0.473000 12 65 0 0 0.001368 0 0 BICD1 636 broad.mit.edu 37 12 32491750 32491750 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:32491750C>G ENST00000281474.5 + 8 2704 c.2601C>G c.(2599-2601)agC>agG p.S867R BICD1_ENST00000548411.1_Intron NM_001714.2 NP_001705.2 Q96G01 BICD1_HUMAN bicaudal D homolog 1 (Drosophila) 867 anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton p.S867R(1) NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GTGATCAGAGCCGTCCCAGGA 0.428000 97 294 0 0 0.003610 0 0 KDM5A 5927 broad.mit.edu 37 12 442778 442778 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:442778C>A ENST00000399788.2 - 12 1890 c.1528G>T c.(1528-1530)Gct>Tct p.A510S KDM5A_ENST00000382815.4_Missense_Mutation_p.A510S NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 510 JmjC. 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 p.A510S(2) 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 TGCTCTGCAGCATGAGATGGC 0.493000 T NUP98 AML 66 91 2.36135e-34 1.1773e-33 0.003610 1 0 CAMK4 814 broad.mit.edu 37 5 110814095 110814095 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:110814095C>G ENST00000282356.4 + 9 1116 c.718C>G c.(718-720)Cca>Gca p.P240A CAMK4_ENST00000512453.1_Missense_Mutation_p.P240A NM_001744.4 NP_001735.1 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 240 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity p.P240A(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1) 30 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TGGATTTGAACCATTCTATGA 0.343000 10 195 0 0 0.001368 0 0 CLEC9A 283420 broad.mit.edu 37 12 10213811 10213811 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:10213811G>T ENST00000355819.1 + 6 871 c.258G>T c.(256-258)aaG>aaT p.K86N NM_207345.2 NP_997228.1 Q6UXN8 CLC9A_HUMAN C-type lectin domain family 9, member A 86 positive regulation of cytokine secretion|receptor-mediated endocytosis cell surface|integral to membrane receptor activity|sugar binding p.K86N(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 22 CAGAATGGAAGAGAAGCTGTG 0.408000 31 61 1.99505e-19 9.04251e-19 0.002445 1 0 REG1B 5968 broad.mit.edu 37 2 79314711 79314711 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:79314711G>T ENST00000305089.3 - 2 108 c.28C>A c.(28-30)Ctg>Atg p.L10M NM_006507.3 NP_006498.1 P48304 REG1B_HUMAN regenerating islet-derived 1 beta 10 cell proliferation extracellular region sugar binding p.L10M(1) central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 51 GAGGAGATCAGCATGAAGAAC 0.493000 23 24 2.44723e-14 1.0676e-13 0.004656 1 0 ZFPM2 23414 broad.mit.edu 37 8 106813793 106813793 + Missense_Mutation SNP G G T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:106813793G>T ENST00000407775.2 + 8 1733 c.1483G>T c.(1483-1485)Ggc>Tgc p.G495C RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.G363C|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.G363C|ZFPM2_ENST00000378472.4_Missense_Mutation_p.G226C|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 495 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding p.G495C(1) NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TTTCCCTGTGGGCCCTTTCCT 0.458000 50 306 4.1673e-28 2.01998e-27 0.003610 1 0 RFX7 64864 broad.mit.edu 37 15 56387452 56387452 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr15:56387452C>A ENST00000423270.1 - 9 2473 c.2474G>T c.(2473-2475)gGa>gTa p.G825V RFX7_ENST00000422057.1_Missense_Mutation_p.G728V|RFX7_ENST00000317318.6_Missense_Mutation_p.G825V|RFX7_ENST00000559447.2_Missense_Mutation_p.G728V NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 728 regulation of transcription, DNA-dependent nucleus DNA binding p.G825V(1)|p.G728V(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 CTGTGGCATTCCTTCTAATTC 0.388000 73 96 1.96331e-54 1.02268e-53 0.003610 1 0 TAZ 6901 broad.mit.edu 37 X 153648424 153648424 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chrX:153648424T>C ENST00000299328.5 + 8 926 c.637T>C c.(637-639)Tgg>Cgg p.W213R TAZ_ENST00000369790.4_Missense_Mutation_p.W169R|TAZ_ENST00000350743.4_Missense_Mutation_p.W183R|TAZ_ENST00000351413.4_Missense_Mutation_p.W199R|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000369776.4_Missense_Mutation_p.W144R NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 213 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity p.W213R(1) lung(1) 1 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) CCTGCCCCTGTGGCATGTCGG 0.642000 7 115 0 0 0.003080 0 0 FAM110B 90362 broad.mit.edu 37 8 59059695 59059695 + Silent SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:59059695C>T ENST00000361488.3 + 5 1786 c.906C>T c.(904-906)gaC>gaT p.D302D FAM110B_ENST00000520369.1_Intron NM_147189.2 NP_671722.1 Q8TC76 F110B_HUMAN family with sequence similarity 110, member B 302 microtubule organizing center|mitochondrion|nucleus p.D302D(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2) 26 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CTAATTCTGACATAATATCCC 0.493000 7 127 0 0 0.001984 0 0 ZNF112 7665 broad.mit.edu 37 19 44847409 44847409 + Silent SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr19:44847409G>A ENST00000337401.4 - 2 100 c.12C>T c.(10-12)ttC>ttT p.F4F CTC-512J12.6_ENST00000588212.1_Intron|ZNF112_ENST00000536500.1_Silent_p.F21F|ZNF112_ENST00000354340.4_Intron NM_001083335.1 NP_001076804.1 zinc finger protein 112 p.F4F(1) AGCTCACCTGGAATTTGGTCA 0.403000 31 83 0 0 0.003271 0 0 LARP1B 55132 broad.mit.edu 37 4 129043234 129043234 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr4:129043234C>G ENST00000326639.6 + 11 1626 c.1415C>G c.(1414-1416)tCt>tGt p.S472C LARP1B_ENST00000264584.5_Missense_Mutation_p.S425C|LARP1B_ENST00000427266.1_Missense_Mutation_p.S472C|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000441387.1_Missense_Mutation_p.S472C|LARP1B_ENST00000512292.1_Missense_Mutation_p.S472C NM_018078.2 NP_060548.2 Q659C4 LAR1B_HUMAN La ribonucleoprotein domain family, member 1B 472 RNA binding p.S472C(2) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3) 34 ACCCACATGTCTCGGGCAAAA 0.378000 24 143 0 0 0.003954 0 0 CARTPT 9607 broad.mit.edu 37 5 71016433 71016433 + Missense_Mutation SNP G G C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:71016433G>C ENST00000296777.4 + 3 473 c.342G>C c.(340-342)aaG>aaC p.K114N CARTPT_ENST00000513096.1_3'UTR NM_004291.3 NP_004282.1 Q16568 CART_HUMAN CART prepropeptide 114 activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission extracellular space p.K114N(1) large_intestine(1)|lung(2)|ovary(1) 4 Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;8.4e-56) Amphetamine(DB00182) TCCTCCTGAAGTGCTTATGAA 0.557000 7 14 0 0 0.003080 0 0 SENP7 57337 broad.mit.edu 37 3 101050843 101050843 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:101050843T>C ENST00000394095.2 - 19 2737 c.2684A>G c.(2683-2685)gAc>gGc p.D895G SENP7_ENST00000394094.2_Missense_Mutation_p.D830G|SENP7_ENST00000394085.3_Missense_Mutation_p.D83G|SENP7_ENST00000394091.1_Missense_Mutation_p.D731G|SENP7_ENST00000314261.7_Missense_Mutation_p.D829G|SENP7_ENST00000348610.3_Missense_Mutation_p.D862G|SENP7_ENST00000358203.3_Missense_Mutation_p.D731G NM_020654.3 NP_065705.3 Q9BQF6 SENP7_HUMAN SUMO1/sentrin specific peptidase 7 895 Protease. proteolysis nucleus cysteine-type peptidase activity p.D895G(1)|p.D829G(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 TGTTTTGTTGTCATTTTGGGA 0.373000 11 189 0 0 0.001368 0 0 TATDN1 83940 broad.mit.edu 37 8 125534428 125534428 + Silent SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:125534428A>G ENST00000276692.6 - 3 139 c.102T>C c.(100-102)gaT>gaC p.D34D TATDN1_ENST00000605953.1_Silent_p.D34D|TATDN1_ENST00000521546.1_5'UTR|TATDN1_ENST00000519548.1_Intron|TATDN1_ENST00000517678.1_Intron NM_032026.3 NP_114415.1 Q6P1N9 TATD1_HUMAN TatD DNase domain containing 1 34 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding p.D34D(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1) 15 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TCCCTATTACATCCTGTAAGT 0.279000 7 182 0 0 0.003080 0 0 WDR65 149465 broad.mit.edu 37 1 43650921 43650921 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:43650921T>C ENST00000372492.4 + 5 1187 c.863T>C c.(862-864)aTt>aCt p.I288T WDR65_ENST00000528956.1_Missense_Mutation_p.I288T NM_001195831.2 NP_001182760.2 Q96MR6 WDR65_HUMAN WD repeat domain 65 288 p.I288T(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTGTTTGCCATTGCAGCCTAT 0.498000 53 89 0 0 0.003610 0 0 FMO4 2329 broad.mit.edu 37 1 171303668 171303668 + Missense_Mutation SNP A A T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr1:171303668A>T ENST00000367749.3 + 8 1276 c.946A>T c.(946-948)Aca>Tca p.T316S NM_002022.1 NP_002013.1 P31512 FMO4_HUMAN flavin containing monooxygenase 4 316 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding p.T316S(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) TGAAGATGGGACAGTGGAAGA 0.383000 78 107 0 0 0.003610 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33616058 33616058 + Nonsense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:33616058C>A ENST00000504830.1 - 15 2598 c.2263G>T c.(2263-2265)Gga>Tga p.G755* ADAMTS12_ENST00000352040.3_Nonsense_Mutation_p.G670*|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 755 Spacer 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G755*(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 ATAAACCCTCCATTCAGGTAA 0.468000 HNSCC(64;0.19) 69 125 1.07363e-35 5.43039e-35 0.003610 1 0 LINC00969 440993 broad.mit.edu 37 3 195400795 195400795 + RNA SNP C C T rs7615357 by1000genomes TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:195400795C>T ENST00000445430.1 + 0 1391 GGGGCAAACTCGCTGTTGGAC 0.592000 4 58 0 0 0.001168 0 0 SMAP1 60682 broad.mit.edu 37 6 71566660 71566660 + Silent SNP A A C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:71566660A>C ENST00000370455.3 + 9 1136 c.888A>C c.(886-888)gcA>gcC p.A296A SMAP1_ENST00000370452.3_Silent_p.A269A|B3GAT2_ENST00000230053.6_3'UTR|SMAP1_ENST00000316999.5_Silent_p.A269A NM_001044305.1 NP_001037770.1 Q8IYB5 SMAP1_HUMAN small ArfGAP 1 296 regulation of ARF GTPase activity plasma membrane ARF GTPase activator activity|zinc ion binding p.A269A(1)|p.A296A(1) breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1) 15 AAGAAGTGGCAAAGAAACAAC 0.428000 4 167 0 0 0.000602 0 0 DTWD2 285605 broad.mit.edu 37 5 118183901 118183901 + Missense_Mutation SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr5:118183901T>C ENST00000304058.4 - 5 482 c.412A>G c.(412-414)Act>Gct p.T138A DTWD2_ENST00000515439.3_Missense_Mutation_p.T108A|DTWD2_ENST00000510708.1_Missense_Mutation_p.T204A Q8NBA8 DTWD2_HUMAN DTW domain containing 2 204 p.T204A(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4) 13 all_epithelial(76;0.0982)|Prostate(80;0.121) OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939) GAAATGCTAGTTTTTAATTGC 0.308000 11 59 0 0 0.002450 0 0 ZNF25 219749 broad.mit.edu 37 10 38241751 38241751 + Silent SNP T T C TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr10:38241751T>C ENST00000302609.7 - 6 887 c.675A>G c.(673-675)acA>acG p.T225T ZNF25_ENST00000374633.1_5'UTR NM_145011.2 NP_659448.1 P17030 ZNF25_HUMAN zinc finger protein 25 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.T225T(1) breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) GTTTCTCCCCTGTGTGTGTTT 0.423000 13 276 0 0 0.001855 0 0 SDHAP1 255812 broad.mit.edu 37 3 195717134 195717134 + RNA SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:195717134G>A ENST00000427841.1 - 0 16 NR_003264.2 CGACACGTCTGTAGTCGCCGC 0.761000 3 8 0 0 0.000248 0 0 BBS2 583 broad.mit.edu 37 16 56545113 56545113 + Silent SNP A A G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr16:56545113A>G ENST00000245157.5 - 3 849 c.429T>C c.(427-429)gcT>gcC p.A143A BBS2_ENST00000568104.1_Silent_p.A143A|BBS2_ENST00000561951.1_5'UTR NM_031885.3 NP_114091.3 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 143 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding p.A143A(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3) 26 AACCTTGCAGAGCACAATTGC 0.398000 Bardet-Biedl syndrome 59 168 0 0 0.003610 0 0 ALMS1 7840 broad.mit.edu 37 2 73830395 73830395 + Missense_Mutation SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:73830395C>T ENST00000264448.6 + 21 12434 c.12323C>T c.(12322-12324)cCt>cTt p.P4108L ALMS1_ENST00000409009.1_Missense_Mutation_p.P4066L|ALMS1_ENST00000464408.2_3'UTR NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4108 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole p.P4108L(1) breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 AAGAACAAGCCTATCAGCAAG 0.483000 13 23 0 0 0.004007 0 0 BAP1 8314 broad.mit.edu 37 3 52441235 52441235 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr3:52441235G>A ENST00000460680.1 - 7 1006 c.535C>T c.(535-537)Cgg>Tgg p.R179W BAP1_ENST00000296288.5_Missense_Mutation_p.R179W NM_004656.2 NP_004647.1 Q92560 BAP1_HUMAN BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) 179 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.R179W(1) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) TCAAAGAGCCGGCCTGTGATA 0.597000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 31 31 0 0 0.004878 0 0 PEX3 8504 broad.mit.edu 37 6 143792568 143792568 + Nonsense_Mutation SNP C C T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr6:143792568C>T ENST00000367591.4 + 6 568 c.505C>T c.(505-507)Cag>Tag p.Q169* NM_003630.2 NP_003621.1 P56589 PEX3_HUMAN peroxisomal biogenesis factor 3 169 protein import into peroxisome membrane|transmembrane transport integral to peroxisomal membrane protein binding p.Q169*(1) endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117) ATCAAGTATTCAGCACCTACT 0.294000 12 160 0 0 0.001855 0 0 EIF4E 1977 broad.mit.edu 37 4 99802265 99802265 + Missense_Mutation SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr4:99802265G>A ENST00000450253.2 - 7 2092 c.568C>T c.(568-570)Cct>Tct p.P190S EIF4E_ENST00000280892.6_Missense_Mutation_p.P210S|EIF4E_ENST00000504432.1_Missense_Mutation_p.P218S|EIF4E_ENST00000505992.1_Missense_Mutation_p.P221S NM_001968.3 NP_001959.1 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 190 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity p.P190S(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) ATCTTTGGAGGAAGTCCTAAC 0.358000 18 46 0 0 0.004656 0 0 RP11-344E13.3 0 broad.mit.edu 37 17 20805603 20805603 + RNA SNP G G A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr17:20805603G>A ENST00000577537.1 + 0 787 RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA GGCCTTCTACGCCCATTACTG 0.567000 51 80 0 0 0.003610 0 0 RANBP2 5903 broad.mit.edu 37 2 109381162 109381162 + Silent SNP A A T TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:109381162A>T ENST00000283195.6 + 20 4293 c.4167A>T c.(4165-4167)ccA>ccT p.P1389P NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1389 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding p.P1389P(2) RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TTGGCCCACCATTAGCTGAAA 0.408000 87 162 0 0 0.003610 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C T rs121913529 TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr12:25398284C>T ENST00000311936.3 - 2 226 c.35G>A c.(34-36)gGt>gAt p.G12D KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348000 G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 12 12 0 0 0.001855 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19642327 19642327 + Missense_Mutation SNP C C A TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr21:19642327C>A ENST00000284885.3 - 25 3052 c.3019G>T c.(3019-3021)Gtc>Ttc p.V1007F NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 1007 Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity p.V1007F(1) NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 AACCTTGAGACCCTGGCATAC 0.433000 5 100 0.000602214 0.00244387 0.000602 1 0 OR1F2P 26184 broad.mit.edu 37 16 3266071 3266071 + RNA SNP A A G rs2550401 by1000genomes TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr16:3266071A>G ENST00000576468.1 + 0 418 GCCAACTCGAATGCTCTGCTG 0.562000 3 58 0 0 0.004672 0 0 GNAS 2778 broad.mit.edu 37 20 57428785 57428785 + Missense_Mutation SNP C C G TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr20:57428785C>G ENST00000371100.4 + 1 1017 c.465C>G c.(463-465)agC>agG p.S155R GNAS_ENST00000306120.3_Missense_Mutation_p.A92G|GNAS_ENST00000371099.2_Missense_Mutation_p.S155R|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.S155R|GNAS_ENST00000313949.7_Intron NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.S155R(1) adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GAGGATACAGCCCTCCACCAG 0.612000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 12 16 0 0 0.001855 0 0 LOC101927533 101927533 broad.mit.edu 37 2 65738847 65738847 + RNA DEL T T - rs111377658 TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr2:65738847delT ENST00000377977.3 + 0 862 ttttTTGAAATTTTTTTTTTT 0.294 3 5 --- --- --- --- RNF139 11236 broad.mit.edu 37 8 125499067 125499084 + In_Frame_Del DEL CTGTTTGTCTCTGCTTGC CTGTTTGTCTCTGCTTGC - rs142948801 TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chr8:125499067_125499084delCTGTTTGTCTCTGCTTGC ENST00000303545.3 + 2 1549_1566 c.1177_1194delCTGTTTGTCTCTGCTTGC c.(1177-1194)del p.LFVSAC393del NM_007218.3 NP_009149.2 Q8WU17 RN139_HUMAN ring finger protein 139 393 negative regulation of cell proliferation|regulation of protein ubiquitination endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1) 20 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TTTTCCTGTGCTGTTTGTCTCTGCTTGCCTGTTTATTC 0.404 219 576 --- --- --- --- KANTR 102723508 broad.mit.edu 37 X 53142508 53142509 + RNA INS - - A rs145002653 by1000genomes TCGA-49-4510-01A-01D-1265-08 TCGA-49-4510-11A-01D-1265-08 Untested Somatic Phase_I WXS none Illumina GAIIx b2c12bff-addd-45a2-ada4-c30ac935809c 19c2a338-ad3e-4fa9-be1f-2babcbf08ddb g.chrX:53142508_53142509insA ENST00000604849.1 + 0 96 AACACACACACAAAAAAAAACC 0.356 5 6 --- --- --- ---