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 XKR4 114786 broad.mit.edu 37 8 56436610 56436610 + Missense_Mutation SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr8:56436610T>C ENST00000327381.5 + 3 1877 c.1777T>C c.(1777-1779)Tca>Cca p.S593P NM_052898.1 NP_443130.1 Q5GH76 XKR4_HUMAN XK, Kell blood group complex subunit-related family, member 4 593 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) GATTGAAGAATCAGTCATTAA 0.488000 31 61 0 0 1 0 0 TMEM155 132332 broad.mit.edu 37 4 122681459 122681459 + Missense_Mutation SNP T T A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr4:122681459T>A ENST00000337677.5 - 6 941 c.383A>T c.(382-384)aAg>aTg p.K128M TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M NM_152399.2 NP_689612.2 Q4W5P6 TM155_HUMAN transmembrane protein 155 128 extracellular region breast(1)|lung(5) 6 tcagacaatcttgcagatagc 0.403000 16 28 0 0 1 0 0 SSTR3 0 broad.mit.edu 37 22 37603530 37603530 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr22:37603530C>T ENST00000328544.3 - 2 846 c.313G>A c.(313-315)Gcc>Acc p.A105T SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T NM_001051.3 NP_001042.1 P32745 SSR3_HUMAN somatostatin receptor 3 105 G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1) 14 TAGGACAGGGCGTTCTGGGCG 0.622000 52 73 0 0 1 0 0 NAA10 8260 broad.mit.edu 37 X 153195616 153195616 + Missense_Mutation SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:153195616T>C ENST00000464845.1 - 8 850 c.532A>G c.(532-534)Aac>Gac p.N178D NAA10_ENST00000370015.4_3'UTR|NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR NM_001256120.1|NM_003491.3 NP_001243049.1|NP_003482.1 P41227 NAA10_HUMAN N(alpha)-acetyltransferase 10, NatA catalytic subunit 178 DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1) 10 TCCACCTTGTTCTCGATGGCA 0.627000 69 78 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21562142 21562142 + Missense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr13:21562142G>A ENST00000382592.4 - 4 2182 c.1777C>T c.(1777-1779)Cgc>Tgc p.R593C LATS2_ENST00000542899.1_Missense_Mutation_p.R593C NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 593 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTCTTGATGCGTGACTCTCTC 0.512000 18 103 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89948203 89948203 + Missense_Mutation SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr5:89948203T>C ENST00000405460.2 + 19 3553 c.3457T>C c.(3457-3459)Tct>Cct p.S1153P NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1153 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTTTCTGTATCTTGGCAGCT 0.383000 4 140 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151336930 151336930 + Missense_Mutation SNP A A T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:151336930A>T ENST00000370314.4 - 10 1487 c.1249T>A c.(1249-1251)Tcc>Acc p.S417T RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|GABRA3_ENST00000370311.1_Missense_Mutation_p.S417T NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 417 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|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GCGCCCTTGGAGATGGTGGAA 0.552000 14 280 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70776956 70776956 + Splice_Site SNP G G T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:70776956G>T ENST00000373719.3 + 10 1537 c.e10+1 OGT_ENST00000373701.3_Splice_Site NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) CATTCATAAGGTACTACTGTT 0.368000 4 31 5.9392e-07 6.1065e-07 1 1 0 INPP5F 22876 broad.mit.edu 37 10 121551532 121551532 + Missense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr10:121551532G>A ENST00000361976.2 + 5 762 c.596G>A c.(595-597)cGg>cAg p.R199Q INPP5F_ENST00000369081.1_Missense_Mutation_p.R103Q|INPP5F_ENST00000369083.3_Missense_Mutation_p.R199Q NM_014937.3 NP_055752.1 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 199 SAC. phosphoric ester hydrolase activity breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 42 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) AGGGACGGTCGGCCCCTCTGG 0.493000 4 185 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 5 174 0 0 1 0 0 NR3C2 0 broad.mit.edu 37 4 149041414 149041414 + Missense_Mutation SNP A A G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr4:149041414A>G ENST00000355292.3 - 7 2910 c.2548T>C c.(2548-2550)Tat>Cat p.Y850H NR3C2_ENST00000511528.1_Missense_Mutation_p.Y850H|NR3C2_ENST00000512865.1_Missense_Mutation_p.Y729H|NR3C2_ENST00000344721.4_Missense_Mutation_p.Y846H|NR3C2_ENST00000342437.4_Silent_p.C680C|NR3C2_ENST00000358102.3_Missense_Mutation_p.Y846H P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 846 Steroid-binding. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) CATAGTTCATACATGGCAGAC 0.448000 3 81 0 0 1 0 0 CD300LG 146894 broad.mit.edu 37 17 41930300 41930300 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:41930300C>T ENST00000317310.4 + 3 441 c.400C>T c.(400-402)Cct>Tct p.P134S CD300LG_ENST00000377203.4_Intron|CD300LG_ENST00000586233.1_Intron|CD300LG_ENST00000539718.1_Missense_Mutation_p.P134S|CD300LG_ENST00000293396.8_Intron NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 134 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) TCCTCCCTCCCCTTCTCCCAC 0.587000 4 226 0 0 1 0 0 CLEC12A 160364 broad.mit.edu 37 12 10131591 10131591 + Missense_Mutation SNP C C T rs141455664 byFrequency TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr12:10131591C>T ENST00000304361.4 + 2 300 c.118C>T c.(118-120)Cgt>Tgt p.R40C CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000350667.4_Intron|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C NM_138337.5|NM_201623.3 NP_612210.4|NP_963917.2 Q5QGZ9 CL12A_HUMAN C-type lectin domain family 12, member A 40 integral to membrane|plasma membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 16 TCATGTATGGCGTCCAGCAGC 0.433000 39 62 0 0 1 0 0 TMC5 79838 broad.mit.edu 37 16 19451785 19451785 + Missense_Mutation SNP G G T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr16:19451785G>T ENST00000396229.2 + 3 1174 c.425G>T c.(424-426)aGc>aTc p.S142I TMC5_ENST00000542583.2_Missense_Mutation_p.S142I|TMC5_ENST00000541464.1_Missense_Mutation_p.S142I|TMC5_ENST00000381414.4_Missense_Mutation_p.S142I NM_001105248.1 NP_001098718.1 Q6UXY8 TMC5_HUMAN transmembrane channel-like 5 142 Poly-Ser. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 GGCTCCAGCAGCAGTGGAAAC 0.498000 5 324 0.014758 0.014758 1 1 0 TMEM216 51259 broad.mit.edu 37 11 61161357 61161357 + Splice_Site SNP T T G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr11:61161357T>G ENST00000515837.2 + 3 1083 c.136_splice c.e3-1 p.G46_splice TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46_splice Q9P0N5 TM216_HUMAN transmembrane protein 216 39 integral to membrane p.G46G(3) endometrium(1)|large_intestine(2)|lung(1)|prostate(2) 6 TATTGGCAGGTGTCCTGCTAC 0.438000 7 27 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 915191 915191 + Nonsense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:915191G>A ENST00000544583.2 - 19 2457 c.1858C>T c.(1858-1860)Cag>Tag p.Q620* ABR_ENST00000302538.5_Nonsense_Mutation_p.Q666*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*|ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448* NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related 666 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TCCACACACTGCCGGACGATG 0.652000 48 73 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547087 132547087 + Silent SNP G G A rs12366766 TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr12:132547087G>A ENST00000333577.4 + 48 8392 c.8283G>A c.(8281-8283)caG>caA p.Q2761Q EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q Q96L91 EP400_HUMAN E1A binding protein p400 2761 Interaction with ZNF42 (By similarity).|Poly-Gln. histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity p.Q2724Q(16)|p.Q2725Q(1) 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) agcagcagcagcaacaacagc 0.562000 7 69 0 0 1 0 0 CHRNA5 1138 broad.mit.edu 37 15 78882881 78882881 + Missense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr15:78882881G>A ENST00000299565.5 + 5 1348 c.1148G>A c.(1147-1149)gGt>gAt p.G383D RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron NM_000745.3 NP_000736.2 P30532 ACHA5_HUMAN cholinergic receptor, nicotinic, alpha 5 (neuronal) 383 behavioral response to nicotine cell junction|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3) 15 ACTGAGAGTGGTAGTGGACCA 0.438000 32 56 0 0 1 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48831681 48831681 + Silent SNP C C G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:48831681C>G ENST00000376441.1 - 25 2353 c.2319G>C c.(2317-2319)ctG>ctC p.L773L GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000376425.3_Silent_p.L742L NM_020137.3 NP_064522.3 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 773 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 GGACGCTGCCCAGCCCGCTGC 0.607000 22 33 0 0 1 0 0 RP13-996F3.4 0 broad.mit.edu 37 15 83014106 83014106 + Silent SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr15:83014106T>C ENST00000557886.1 - 6 576 c.477A>G c.(475-477)gtA>gtG p.V159V p.V159V(12) endometrium(6)|kidney(5)|prostate(1) 12 GTAGCTGCTCTACCTTAGATG 0.498000 4 4 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78790138 78790138 + Missense_Mutation SNP A A G rs11999771 TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr9:78790138A>G ENST00000376767.3 + 14 2505 c.1993A>G c.(1993-1995)Aaa>Gaa p.K665E PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 0 CRM (Cys-rich motif). anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 gaatggaatgaaatggaatgg 0.423000 3 31 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366698 248366698 + Missense_Mutation SNP C C G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr1:248366698C>G ENST00000456743.1 + 1 367 c.329C>G c.(328-330)tCt>tGt p.S110C NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 110 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTGCTTGGCTCTGAGTGCTTT 0.458000 22 286 0 0 1 0 0 HOXA7 3204 broad.mit.edu 37 7 27196035 27196035 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr7:27196035C>T ENST00000242159.3 - 1 263 c.130G>A c.(130-132)Gcc>Acc p.A44T NM_006896.3 NP_008827.2 P31268 HXA7_HUMAN homeobox A7 44 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1) 16 AAGGCGCCGGCGCCCGCCCCG 0.607000 23 143 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105280487 105280487 + Missense_Mutation SNP A A C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:105280487A>C ENST00000327674.4 - 1 898 c.563T>G c.(562-564)cTa>cGa p.L188R SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 188 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) GTCTTGAATTAGACCCACAAC 0.413000 55 108 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43898541 43898541 + Missense_Mutation SNP C C A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr22:43898541C>A ENST00000417669.1 + 6 1210 c.766C>A c.(766-768)Ccc>Acc p.P256T MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 256 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) GGACTGGGTCCCCAAGAAGAT 0.632000 16 137 1.37285e-15 1.45244e-15 1 1 0 SYNE2 23224 broad.mit.edu 37 14 64683079 64683079 + Missense_Mutation SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr14:64683079T>C ENST00000357395.3 + 108 19746 c.8602T>C c.(8602-8604)Tcc>Ccc p.S2868P SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6483P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 6483 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCCCCCTGCGTCCAGCACCCC 0.498000 34 46 0 0 1 0 0 SRRM4 84530 broad.mit.edu 37 12 119592158 119592158 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr12:119592158C>T ENST00000267260.4 + 12 1890 c.1502C>T c.(1501-1503)cCg>cTg p.P501L NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 501 Arg-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 AGAGACTCCCCGAGCCACCTG 0.632000 17 19 0 0 1 0 0 DRP2 1821 broad.mit.edu 37 X 100490939 100490939 + Missense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:100490939G>A ENST00000395209.3 + 4 735 c.208G>A c.(208-210)Gcc>Acc p.A70T DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000402866.1_Missense_Mutation_p.A70T|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 70 central nervous system development cytoplasm|cytoskeleton zinc ion binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 GTCTGTTGGTGCCTCTGGACC 0.517000 95 185 0 0 1 0 0 SEC61A1 29927 broad.mit.edu 37 3 127786281 127786281 + Silent SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr3:127786281C>T ENST00000243253.3 + 10 1177 c.993C>T c.(991-993)ggC>ggT p.G331G RUVBL1_ENST00000464873.1_Intron|SEC61A1_ENST00000464451.1_Silent_p.G337G|SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000483956.1_3'UTR NM_013336.3 NP_037468.1 P61619 S61A1_HUMAN Sec61 alpha 1 subunit (S. cerevisiae) 331 protein targeting to ER integral to endoplasmic reticulum membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4) 21 CTTCTGGGGGCCCAGCACGTG 0.483000 51 97 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 14 43 0 0 1 0 0 PHYHIP 9796 broad.mit.edu 37 8 22081799 22081799 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr8:22081799C>T ENST00000454243.2 - 4 972 c.398G>A c.(397-399)cGc>cAc p.R133H PHYHIP_ENST00000321613.3_Missense_Mutation_p.R133H NM_014759.3 NP_055574.3 Q92561 PHYIP_HUMAN phytanoyl-CoA 2-hydroxylase interacting protein 133 endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1) 10 Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629) GCGGAGCATGCGGCCTGCGAT 0.622000 4 72 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18928550 18928550 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr9:18928550C>T ENST00000380534.4 - 4 1204 c.925G>A c.(925-927)Gcc>Acc p.A309T FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 309 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) GTGTAATGGGCCTGCACTGTT 0.547000 46 58 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577157 7577157 + Splice_Site SNP T T G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:7577157T>G ENST00000420246.2 - 8 915 c.e8-2 TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.?(11)|p.0?(8)|p.E258fs*71(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATTACCACTACTCAGGATA 0.512000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 11 13 0 0 1 0 0 RGAG4 340526 broad.mit.edu 37 X 71350423 71350423 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:71350423C>T ENST00000545866.1 - 1 1335 c.968G>A c.(967-969)cGa>cAa p.R323Q RGAG4_ENST00000479991.1_Missense_Mutation_p.R323Q|NHSL2_ENST00000540800.1_Intron Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 323 cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1) 24 Renal(35;0.156) GATGATATTTCGAACTCCAGG 0.493000 59 111 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123271073 123271073 + Missense_Mutation SNP A A G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr4:123271073A>G ENST00000264501.4 + 80 14066 c.13693A>G c.(13693-13695)Acc>Gcc p.T4565A KIAA1109_ENST00000388738.3_Missense_Mutation_p.T4565A Q2LD37 K1109_HUMAN KIAA1109 4565 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ATCAAGGTCAACCACACCAGA 0.393000 4 156 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47774744 47774744 + Silent SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:47774744T>C ENST00000376954.1 + 6 1067 c.699T>C c.(697-699)taT>taC p.Y233Y ZNF81_ENST00000338637.7_Silent_p.Y233Y P51508 ZNF81_HUMAN zinc finger protein 81 233 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) ACTCTTCTTATAGTCACCACG 0.363000 9 79 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217833 130217833 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:130217833C>T ENST00000276211.5 + 4 790 c.445C>T c.(445-447)Cgt>Tgt p.R149C ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 149 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 GGCTGCGGGCCGTCGTCGGGG 0.622000 15 240 0 0 1 0 0 WDR93 56964 broad.mit.edu 37 15 90265288 90265288 + Silent SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr15:90265288T>C ENST00000268130.7 + 8 899 c.798T>C c.(796-798)gaT>gaC p.D266D WDR93_ENST00000444934.2_5'UTR|WDR93_ENST00000560294.1_Silent_p.D266D NM_020212.1 NP_064597.1 Q6P2C0 WDR93_HUMAN WD repeat domain 93 266 electron transport chain mitochondrial inner membrane oxidoreductase activity, acting on NADH or NADPH NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 33 Lung NSC(78;0.0237)|all_lung(78;0.0478) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128) tgttttAGGATGCAAATGTTA 0.318000 3 46 0 0 1 0 0 RP11-385D13.1 0 broad.mit.edu 37 17 15532459 15532459 + Nonsense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:15532459G>A ENST00000455584.2 - 6 1208 c.1165C>T c.(1165-1167)Cag>Tag p.Q389* TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|TRIM16_ENST00000578237.1_Nonsense_Mutation_p.Q389* TTCTCCTCCTGCAGCCGGAGA 0.602000 9 69 0 0 1 0 0 RP11-333E13.4 0 broad.mit.edu 37 4 40045275 40045275 + RNA SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr4:40045275G>A ENST00000381811.2 - 0 874 NR_027277.1 CGTTCCTCCAGTTGGTCTCCA 0.592000 3 40 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1606186 1606186 + Silent SNP A A G rs137999496 TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr11:1606186A>G ENST00000382171.2 - 1 327 c.294T>C c.(292-294)ggT>ggC p.G98G KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 98 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGGAGCCACAACCCCCCTTGG 0.677000 10 92 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153640435 153640435 + Missense_Mutation SNP A A T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:153640435A>T ENST00000299328.5 + 2 411 c.122A>T c.(121-123)cAc>cTc p.H41L TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000369776.4_Intron NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 41 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 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) TACATGAACCACCTGACCGTG 0.677000 OREG0003602 type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 17 13 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130463923 130463923 + Missense_Mutation SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr3:130463923T>C ENST00000356763.3 - 2 697 c.140A>G c.(139-141)gAa>gGa p.E47G NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 47 Protein kinase. fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 GACCAGGCCTTCTCGGTGCTT 0.408000 16 35 0 0 1 0 0 CPZ 8532 broad.mit.edu 37 4 8603122 8603122 + Missense_Mutation SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr4:8603122G>A ENST00000360986.4 + 3 568 c.394G>A c.(394-396)Gcc>Acc p.A132T CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR NM_001014447.2 NP_001014447.1 Q66K79 CBPZ_HUMAN carboxypeptidase Z 132 FZ. proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CTGCCAGCCCGCCTTCGACGC 0.677000 5 10 0 0 1 0 0 SH2D1B 117157 broad.mit.edu 37 1 162381781 162381781 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr1:162381781C>T ENST00000367929.2 - 1 135 c.26G>A c.(25-27)cGt>cAt p.R9H SH2D1B_ENST00000493550.1_5'UTR|SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 9 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) CTTGGTCAGACGTCCATGGTA 0.532000 10 74 0 0 1 0 0 CSTF2 1478 broad.mit.edu 37 X 100077401 100077401 + Missense_Mutation SNP A A T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:100077401A>T ENST00000415585.2 + 3 321 c.299A>T c.(298-300)gAg>gTg p.E100V CSTF2_ENST00000372972.2_Missense_Mutation_p.E100V|CSTF2_ENST00000486615.1_Intron P33240 CSTF2_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa 100 mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cleavage body|mRNA cleavage and polyadenylation specificity factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 13 AACAAAGAAGAGCTGAAGAGT 0.418000 18 42 0 0 1 0 0 ARRB2 409 broad.mit.edu 37 17 4619834 4619834 + Silent SNP G G C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:4619834G>C ENST00000269260.2 + 5 521 c.288G>C c.(286-288)cgG>cgC p.R96R ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000381488.6_Silent_p.R81R NM_001257328.1|NM_001257330.1|NM_004313.3 NP_001244257.1|NP_001244259.1|NP_004304.1 P32121 ARRB2_HUMAN arrestin, beta 2 96 cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane angiotensin receptor binding|ubiquitin protein ligase binding large_intestine(1)|liver(2)|lung(3)|prostate(1) 7 ACCCACCCCGGCCCCCCACCC 0.672000 7 20 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135428469 135428469 + Silent SNP G G C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:135428469G>C ENST00000394143.1 + 6 2895 c.2604G>C c.(2602-2604)ctG>ctC p.L868L GPR112_ENST00000287534.4_Silent_p.L805L|GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 868 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) CAACAATGCTGGAAGTGACAG 0.398000 21 225 0 0 1 0 0 HS3ST3A1 9955 broad.mit.edu 37 17 13400056 13400056 + Missense_Mutation SNP C C T TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:13400056C>T ENST00000284110.1 - 2 1476 c.679G>A c.(679-681)Gcg>Acg p.A227T HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T NM_006042.1 NP_006033.1 Q9Y663 HS3SA_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 227 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GAGATGCGCGCGGGGGCCTCC 0.627000 51 162 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 34 0 0 1 0 0 LETM2 137994 broad.mit.edu 37 8 38262000 38262000 + Silent SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr8:38262000G>A ENST00000379957.4 + 8 1321 c.1194G>A c.(1192-1194)ccG>ccA p.P398P LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000524874.1_Silent_p.P350P|LETM2_ENST00000523983.2_Silent_p.P351P|LETM2_ENST00000297720.5_Silent_p.P303P NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 398 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) AGCCCAAGCCGATTGAGATAC 0.557000 10 57 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949447 56949447 + Missense_Mutation SNP A A G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr11:56949447A>G ENST00000497933.1 + 1 227 c.80A>G c.(79-81)gAc>gGc p.D27G NM_001005210.2 NP_001005210.1 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 0 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GATTCCATGGACACAGTCCTC 0.607000 11 58 0 0 1 0 0 NEMF 9147 broad.mit.edu 37 14 50269393 50269393 + Silent SNP A A C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr14:50269393A>C ENST00000298310.5 - 21 2417 c.1968T>G c.(1966-1968)ctT>ctG p.L656L NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Silent_p.L635L|NEMF_ENST00000545773.1_Silent_p.L614L O60524 NEMF_HUMAN nuclear export mediator factor 656 cytoplasm|nucleus breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 36 GTACCTTAAAAAGGAAGCTAA 0.318000 6 49 0 0 1 0 0 EFS 0 broad.mit.edu 37 14 23828664 23828664 + Silent SNP T T G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr14:23828664T>G ENST00000216733.3 - 4 1630 c.1023A>C c.(1021-1023)ccA>ccC p.P341P EFS_ENST00000351354.3_Silent_p.P248P|EFS_ENST00000429593.2_Silent_p.P172P NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 341 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCAGGCGGGGTGGGGGTGGGG 0.697000 10 61 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117773444 117773444 + Missense_Mutation SNP T T A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:117773444T>A ENST00000276204.6 + 38 4122 c.4048T>A c.(4048-4050)Tcg>Acg p.S1350T DOCK11_ENST00000276202.7_Missense_Mutation_p.S1350T Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1350 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 AGACCGAAAATCGCAAACCAT 0.413000 14 90 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98129891 98129891 + Silent SNP G G A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr10:98129891G>A ENST00000357947.3 - 20 3069 c.2844C>T c.(2842-2844)taC>taT p.Y948Y NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 948 CUB 5. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CCATGTAGTCGTAGCCGCAGT 0.667000 11 81 0 0 1 0 0 OR5I1 10798 broad.mit.edu 37 11 55703053 55703053 + Missense_Mutation SNP A A G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr11:55703053A>G ENST00000301532.3 - 1 823 c.824T>C c.(823-825)aTt>aCt p.I275T NM_006637.1 NP_006628.1 Q13606 OR5I1_HUMAN olfactory receptor, family 5, subfamily I, member 1 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 CACTGAGATAATTTTATCAGT 0.408000 16 27 0 0 1 0 0 CASP1 834 broad.mit.edu 37 11 104897057 104897057 + Missense_Mutation SNP A A C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr11:104897057A>C ENST00000533400.1 - 9 1178 c.1143T>G c.(1141-1143)gaT>gaG p.D381E CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E NM_001257118.1 NP_001244047.1 P29466 CASP1_HUMAN caspase 1, apoptosis-related cysteine peptidase 381 cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction cytosol caspase activator activity|cysteine-type endopeptidase activity|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482) Minocycline(DB01017)|Penicillamine(DB00859) GCGCTCTACCATCTGGCTGCT 0.393000 7 67 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577574 7577574 + Missense_Mutation SNP T T C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:7577574T>C ENST00000420246.2 - 7 839 c.707A>G c.(706-708)tAc>tGc p.Y236C TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 236 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GTTACACATGTAGTTGTAGTG 0.572000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 40 36 0 0 1 0 0 AR 367 broad.mit.edu 37 X 66863188 66863188 + Silent SNP G G C TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chrX:66863188G>C ENST00000374690.3 + 2 2231 c.1707G>C c.(1705-1707)ggG>ggC p.G569G AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G|AR_ENST00000396043.2_Silent_p.G37G|AR_ENST00000513847.1_3'UTR NM_000044.3 NP_000035.2 P10275 ANDR_HUMAN androgen receptor 568 cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport cytoplasm|nuclear chromatin|nucleoplasm androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3) 67 all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102) all_lung(315;1.3e-11) Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624) AAGCTTCTGGGTGTCACTATG 0.493000 Androgen Insensitivity Syndrome 5 43 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39799059 39799060 + Frame_Shift_Ins INS - - G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr1:39799059_39799060insG ENST00000564288.1 + 37 7576_7577 c.6799_6800insG c.(6799-6801)ggafs p.G2267fs MACF1_ENST00000476350.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Frame_Shift_Ins_p.G707fs|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Frame_Shift_Ins_p.G2304fs|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Frame_Shift_Ins_p.G2272fs Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 2272 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 7 130 --- --- --- --- RP11-13J8.1 0 broad.mit.edu 37 2 201967218 201967218 + RNA DEL G G - TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr2:201967218delG ENST00000448256.1 + 0 628 aaaaaaaaaagaaTTTGTTCT 0.463 3 4 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939825 31939826 + Frame_Shift_Ins INS - - G TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr6:31939825_31939826insG ENST00000375331.2 + 1 218_219 c.52_53insG c.(52-54)ggcfs p.G18fs DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 18 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 GCGACAGTGGCGGGCAAACCCC 0.634 8 272 --- --- --- --- STK19 8859 broad.mit.edu 37 6 31939829 31939830 + Frame_Shift_Ins INS - - A TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr6:31939829_31939830insA ENST00000375331.2 + 1 222_223 c.56_57insA c.(55-57)gaafs p.E19fs DOM3Z_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.E19fs|DOM3Z_ENST00000478221.1_5'UTR|DOM3Z_ENST00000375349.3_5'UTR NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 19 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(5)|upper_aerodigestive_tract(2) 7 CAGTGGCGGGCAAACCCCTCCC 0.634 7 214 --- --- --- --- ASCL1 429 broad.mit.edu 37 12 103352171 103352172 + In_Frame_Ins INS - - GCA rs71438488 TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr12:103352171_103352172insGCA ENST00000266744.3 + 1 708_709 c.149_150insGCA c.(148-150)gca>gGCAca p.50_50A>GT NM_004316.3 NP_004307.2 P50553 ASCL1_HUMAN achaete-scute family bHLH transcription factor 1 50 cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development nucleus bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity NS(3)|large_intestine(1)|lung(1) 5 gcgcagagcgcgcagcagcagc 0.757 5 3 --- --- --- --- ZZEF1 23140 broad.mit.edu 37 17 4046085 4046085 + Frame_Shift_Del DEL G G - TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr17:4046085delG ENST00000381638.2 - 1 229 c.105delC c.(103-105)ccfs p.P35fs ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 35 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CGCCCGGGCCGGGGGTCGTGC 0.751 2 4 --- --- --- --- KANK3 256949 broad.mit.edu 37 19 8398950 8398961 + In_Frame_Del DEL TCGCTGTCGCCA TCGCTGTCGCCA - rs111751275 TCGA-FG-A60J-01A-11D-A289-08 TCGA-FG-A60J-10A-01D-A289-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8317d01c-1f0a-4aac-9dfe-4f873da39278 d5887198-a47e-478b-8d13-db072d97b967 g.chr19:8398950_8398961delTCGCTGTCGCCA ENST00000330915.3 - 5 1532_1543 c.1467_1478delTGGCGACAGCGA c.(1465-1479)gag>ga p.DGDSE489del KANK3_ENST00000593649.1_In_Frame_Del_p.DGDSE489del NM_198471.2 NP_940873.2 Q6NY19 KANK3_HUMAN KN motif and ankyrin repeat domains 3 489 p.D489_S492delDGDS(2) breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 9 GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC 0.717 5 6 --- --- --- ---