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 PSG7 5676 broad.mit.edu 37 19 43439742 43439742 + RNA SNP A A G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr19:43439742A>G ENST00000406070.2 - 0 340 PSG7_ENST00000446844.3_RNA NM_002783.2 NP_002774.2 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) female pregnancy extracellular region Prostate(69;0.00682) TCTACTATATATGATGTAACA 0.418000 23 446 0 0 0.001882 0 0 CHAD 1101 broad.mit.edu 37 17 48543081 48543081 + Missense_Mutation SNP G G A rs138200891 TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr17:48543081G>A ENST00000508540.1 - 2 1077 c.925C>T c.(925-927)Cgg>Tgg p.R309W ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R309W|ACSF2_ENST00000427954.2_Intron NM_001267.2 NP_001258.2 O15335 CHAD_HUMAN chondroadherin 309 LRRCT. regulation of cell growth proteinaceous extracellular matrix extracellular matrix structural constituent central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2) 15 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CGAAGGCCCCGGAGCTGGCAG 0.562000 4 196 0 0 0.000602 0 0 UBBP4 0 broad.mit.edu 37 17 21731144 21731144 + Missense_Mutation SNP T T G rs149119138 by1000genomes TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr17:21731144T>G ENST00000584755.1 + 2 843 c.446T>G c.(445-447)cTg>cGg p.L149R UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000584398.1_3'UTR p.L149R(18) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GTCCTGCGTCTGAGAGGTGGT 0.542000 4 128 0 0 0.000602 0 0 SCN10A 6336 broad.mit.edu 37 3 38793869 38793869 + Missense_Mutation SNP G G T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr3:38793869G>T ENST00000449082.2 - 11 1595 c.1596C>A c.(1594-1596)agC>agA p.S532R NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 532 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AGCCCCGATGGCTTTCGTGGT 0.602000 7 82 0.00198382 0.00261029 0.001984 1 0 MT1JP 0 broad.mit.edu 37 16 56670367 56670367 + RNA SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr16:56670367C>T ENST00000564564.1 + 0 693 CCTGCACGTGCGCCGGCTCCT 0.572000 29 69 0 0 0.007291 0 0 NOS3 4846 broad.mit.edu 37 7 150693876 150693876 + Missense_Mutation SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr7:150693876C>T ENST00000297494.3 + 5 802 c.445C>T c.(445-447)Cgg>Tgg p.R149W NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000461406.1_Intron|NOS3_ENST00000467517.1_Missense_Mutation_p.R149W NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 149 Interaction with NOSIP. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.R149R(1) NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) CCACGAACAGCGGCTTCAAGA 0.657000 6 23 0 0 0.006214 0 0 FAM178A 0 broad.mit.edu 37 10 102683830 102683830 + Missense_Mutation SNP G G C TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr10:102683830G>C ENST00000238961.3 + 5 1220 c.1072G>C c.(1072-1074)Gag>Cag p.E358Q FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 358 AAAAGCAAGAGAGTCCTTCCT 0.398000 5 46 0 0 0.001168 0 0 SZT2 23334 broad.mit.edu 37 1 43912025 43912025 + Missense_Mutation SNP T T C TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr1:43912025T>C ENST00000562955.1 + 64 8839 c.8839T>C c.(8839-8841)Tgt>Cgt p.C2947R SZT2_ENST00000372442.1_Missense_Mutation_p.C2105R NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 3004 peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CTGTTACTTCTGTGTCAAACA 0.552000 4 102 0 0 0.000602 0 0 PGM1 5236 broad.mit.edu 37 1 64100510 64100510 + Silent SNP G G A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr1:64100510G>A ENST00000371083.4 + 5 1115 c.747G>A c.(745-747)ccG>ccA p.P249P PGM1_ENST00000540265.1_Silent_p.P34P|PGM1_ENST00000371084.3_Silent_p.P231P NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 231 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 TTGTGGGACCGTATGTAAAGA 0.473000 4 144 0 0 0.000248 0 0 EIF4G3 8672 broad.mit.edu 37 1 21133862 21133862 + Missense_Mutation SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr1:21133862C>T ENST00000602326.1 - 35 5309 c.4726G>A c.(4726-4728)Gca>Aca p.A1576T EIF4G3_ENST00000374937.3_Missense_Mutation_p.A1576T|EIF4G3_ENST00000537738.1_Missense_Mutation_p.A1060T|EIF4G3_ENST00000536266.1_Missense_Mutation_p.A1174T|EIF4G3_ENST00000264211.8_Missense_Mutation_p.A1570T|EIF4G3_ENST00000400422.1_Missense_Mutation_p.A1570T|EIF4G3_ENST00000374935.3_Missense_Mutation_p.A1290T NM_001198802.1 NP_001185731.1 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 gamma, 3 1570 EIF4A-binding (By similarity).|Necessary but not sufficient for MKNK1- binding (By similarity).|W2. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3) 70 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) GTGAAGAATGCCGTGACAGAT 0.453000 5 326 0 0 0.000602 0 0 ATP5B 506 broad.mit.edu 37 12 57036472 57036472 + Silent SNP G G C TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr12:57036472G>C ENST00000262030.3 - 6 986 c.936C>G c.(934-936)acC>acG p.T312T ATP5B_ENST00000552919.1_Intron|ATP5B_ENST00000550162.1_5'UTR NM_001686.3 NP_001677.2 P06576 ATPB_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide 312 angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AACCAGCCTGGGTGAAGCGAA 0.483000 25 67 0 0 0.006320 0 0 UNC93A 54346 broad.mit.edu 37 6 167717405 167717405 + Splice_Site SNP A A G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr6:167717405A>G ENST00000230256.3 + 5 800 c.e5-1 UNC93A_ENST00000366829.2_Splice_Site NM_018974.3 NP_061847.2 Q86WB7 UN93A_HUMAN unc-93 homolog A (C. elegans) integral to membrane|plasma membrane breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 40 Breast(66;7.62e-05)|Ovarian(120;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ATGTCCTTTCAGGGAGTGGTG 0.537000 27 105 0 0 0.002836 0 0 PCDHGB1 0 broad.mit.edu 37 5 140730818 140730818 + Missense_Mutation SNP A A G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr5:140730818A>G ENST00000523390.1 + 1 991 c.991A>G c.(991-993)Ata>Gta p.I331V PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAATGTTCAAATAGAAATTGT 0.428000 6 76 0 0 0.001984 0 0 PATZ1 23598 broad.mit.edu 37 22 31740738 31740738 + Missense_Mutation SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr22:31740738C>T ENST00000266269.5 - 1 1480 c.851G>A c.(850-852)gGg>gAg p.G284E PATZ1_ENST00000405309.3_Missense_Mutation_p.G284E|PATZ1_ENST00000351933.4_Missense_Mutation_p.G284E|PATZ1_ENST00000215919.3_Missense_Mutation_p.G284E NM_014323.2 NP_055138.2 Q9HBE1 PATZ1_HUMAN POZ (BTB) and AT hook containing zinc finger 1 284 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/PATZ1(2) NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 12 CCTCAGGCCCCCTGGGGACCC 0.652000 6 18 0 0 0.003080 0 0 SERPINA9 327657 broad.mit.edu 37 14 94929626 94929626 + Missense_Mutation SNP T T A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr14:94929626T>A ENST00000337425.5 - 5 1186 c.1112A>T c.(1111-1113)cAc>cTc p.H371L SERPINA9_ENST00000298845.7_Missense_Mutation_p.H271L|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000448305.2_Missense_Mutation_p.H273L|SERPINA9_ENST00000424550.2_Missense_Mutation_p.H222L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.H353L NM_175739.3 NP_783866.2 Q86WD7 SPA9_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 353 T -> A (in Ref. 1; AAO65242). regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17) 21 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CACAGCCTTGTGGGTTGCCTG 0.502000 14 75 0 0 0.003163 0 0 KMT2A 4297 broad.mit.edu 37 11 118344301 118344301 + Silent SNP T T A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr11:118344301T>A ENST00000534358.1 + 3 2450 c.2427T>A c.(2425-2427)tcT>tcA p.S809S KMT2A_ENST00000354520.4_Silent_p.S809S|KMT2A_ENST00000389506.5_Silent_p.S809S NM_001197104.1|NM_005933.3 NP_001184033.1|NP_005924.2 lysine (K)-specific methyltransferase 2A CTGGGGAATCTGCAGAGAAAA 0.468000 7 167 0 0 0.003080 0 0 KRT8 3856 broad.mit.edu 37 12 53293635 53293635 + Missense_Mutation SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr12:53293635C>T ENST00000552551.1 - 6 1337 c.905G>A c.(904-906)cGc>cAc p.R302H KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000546897.1_Missense_Mutation_p.R302H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H P05787 K2C8_HUMAN keratin 8 302 Coil 2.|Necessary for interaction with PNN.|Rod. cytoskeleton organization|interspecies interaction between organisms cytoplasm|keratin filament|nuclear matrix|nucleoplasm protein binding|structural molecule activity endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(357;0.108) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) AGTCTTTGTGCGCCGCAGGTC 0.602000 30 35 0 0 0.007291 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b 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 38 45 0 0 0.002522 0 0 SLC5A8 160728 broad.mit.edu 37 12 101577979 101577979 + Missense_Mutation SNP C C A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr12:101577979C>A ENST00000536262.2 - 8 1543 c.985G>T c.(985-987)Gac>Tac p.D329Y NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 329 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity p.D329N(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 TGCAGAATGTCCAGTACCAAA 0.348000 9 48 0.000442599 0.000598107 0.006214 1 0 CD200 4345 broad.mit.edu 37 3 112064083 112064083 + Silent SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr3:112064083C>T ENST00000315711.8 + 3 426 c.369C>T c.(367-369)ttC>ttT p.F123F CD200_ENST00000473539.1_Silent_p.F148F|CD200_ENST00000383681.3_Silent_p.F49F NM_005944.5 NP_005935.4 P41217 OX2G_HUMAN CD200 molecule 123 Ig-like V-type. regulation of immune response integral to plasma membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05) TGTGTCTCTTCAATACCTTTG 0.443000 4 125 0 0 0.000248 0 0 UCP3 7352 broad.mit.edu 37 11 73714925 73714925 + Silent SNP G G A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr11:73714925G>A ENST00000314032.4 - 6 1323 c.771C>T c.(769-771)ctC>ctT p.L257L UCP3_ENST00000426995.2_Silent_p.L257L|UCP3_ENST00000348534.4_Silent_p.L155L NM_003356.3 NP_003347.1 P55916 UCP3_HUMAN uncoupling protein 3 (mitochondrial, proton carrier) 257 mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Breast(11;2.08e-05) TCATACAGTCGAGGGGGCTGA 0.617000 8 194 0 0 0.004482 0 0 GIGYF2 26058 broad.mit.edu 37 2 233655736 233655736 + Missense_Mutation SNP A A G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr2:233655736A>G ENST00000373566.3 + 12 1212 c.1015A>G c.(1015-1017)Att>Gtt p.I339V GIGYF2_ENST00000452341.2_Missense_Mutation_p.I148V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I317V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I311V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I317V|GIGYF2_ENST00000409480.1_Missense_Mutation_p.I339V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I339V Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 317 cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GAAAGAGCCTATTCCAGAAGA 0.443000 3 92 0 0 0.004672 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492966 21492966 + Missense_Mutation SNP C C G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr20:21492966C>G ENST00000377142.4 - 2 773 c.417G>C c.(415-417)caG>caC p.Q139H NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 139 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 GCTCGTAGGTCTGCGCCTTGG 0.692000 16 26 0 0 0.006122 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51628865 51628865 + Missense_Mutation SNP A A T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr19:51628865A>T ENST00000440804.3 + 2 500 c.433A>T c.(433-435)Agg>Tgg p.R145W SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R145W NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 145 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CTTGACCCACAGGCCCAACAT 0.642000 5 221 0 0 0.001168 0 0 GPR31 2853 broad.mit.edu 37 6 167570606 167570606 + Silent SNP G G A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr6:167570606G>A ENST00000366834.1 - 1 1211 c.714C>T c.(712-714)tgC>tgT p.C238C NM_005299.2 NP_005290.2 O00270 GPR31_HUMAN G protein-coupled receptor 31 238 integral to plasma membrane G-protein coupled receptor activity NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1) 17 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492) TGGCCAGGAAGCAGGGCAGAA 0.592000 11 118 0 0 0.000978 0 0 MUC17 140453 broad.mit.edu 37 7 100681682 100681682 + Missense_Mutation SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr7:100681682C>T ENST00000306151.4 + 3 7049 c.6985C>T c.(6985-6987)Cca>Tca p.P2329S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2329 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TACCAGCATGCCAACCTCAAC 0.478000 6 586 0 0 0.001984 0 0 MUC16 94025 broad.mit.edu 37 19 9046747 9046747 + Silent SNP T T A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr19:9046747T>A ENST00000397910.4 - 5 35087 c.34884A>T c.(34882-34884)ccA>ccT p.P11628P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11630 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCACTACCCCTGGTATACTGG 0.512000 16 147 0 0 0.004990 0 0 COL6A1 1291 broad.mit.edu 37 21 47409674 47409674 + Silent SNP A A G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr21:47409674A>G ENST00000361866.3 + 11 1026 c.912A>G c.(910-912)aaA>aaG p.K304K NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 304 Triple-helical region. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGGGAGAAAAAGGGAGCCGTG 0.637000 3 109 0 0 0.004672 0 0 KIT 3815 broad.mit.edu 37 4 55561801 55561801 + Missense_Mutation SNP T T G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr4:55561801T>G ENST00000288135.5 + 2 288 c.191T>G c.(190-192)gTc>gGc p.V64G NM_000222.2|NM_001093772.1 NP_000213.1|NP_001087241.1 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog 64 Ig-like C2-type 1. male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1) 6411 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCGGGCTTTGTCAAATGGACT 0.493000 1 """Mis, O""" """GIST, AML, TGCT, mastocytosis, mucosal melanoma""" """GIST, epithelioma""" Piebald trait Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors 4 78 0 0 0.000248 0 0 DCST1 149095 broad.mit.edu 37 1 155013046 155013046 + Silent SNP C C T rs141235792 TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr1:155013046C>T ENST00000295542.1 + 6 573 c.477C>T c.(475-477)cgC>cgT p.R159R DCST1_ENST00000392480.1_Silent_p.R159R|DCST1_ENST00000368419.2_Silent_p.R159R|DCST1_ENST00000423025.2_Silent_p.R134R NM_152494.3 NP_689707.2 Q5T197 DCST1_HUMAN DC-STAMP domain containing 1 159 integral to membrane zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 27 all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.000434) ACAACACCCGCGCAGCTTGGC 0.617000 4 9 0 0 0.000248 0 0 ATRX 546 broad.mit.edu 37 X 76845411 76845411 + Splice_Site SNP C C T TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chrX:76845411C>T ENST00000373344.5 - 27 6325 c.e27-1 ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) GAAAACAAGGCTAAAAAAACA 0.323000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 23 6 0 0 0.001882 0 0 SEMA4F 10505 broad.mit.edu 37 2 74901749 74901749 + Missense_Mutation SNP G G A TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr2:74901749G>A ENST00000357877.2 + 8 1096 c.947G>A c.(946-948)cGa>cAa p.R316Q SEMA4F_ENST00000339773.5_Missense_Mutation_p.R161Q NM_004263.3 NP_004254.2 O95754 SEM4F_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F 316 Sema. cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 45 GCTGTGCTTCGACCTGAGCTT 0.562000 21 224 0 0 0.001882 0 0 KIAA1429 25962 broad.mit.edu 37 8 95523837 95523837 + Missense_Mutation SNP A A G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr8:95523837A>G ENST00000297591.5 - 13 3041 c.2966T>C c.(2965-2967)cTc>cCc p.L989P KIAA1429_ENST00000437199.1_Missense_Mutation_p.L989P|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L989P NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 989 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) GTTGACATGGAGCCTCCAAGG 0.428000 3 111 0 0 0.004672 0 0 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G A rs121913343 TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr17:7577121G>A ENST00000420246.2 - 8 949 c.817C>T c.(817-819)Cgt>Tgt p.R273C TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 273 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GCACAAACACGCACCTCAAAG 0.542000 R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID) 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) 33 4 0 0 0.002096 0 0 KMT2C 58508 broad.mit.edu 37 7 151842271 151842271 + Missense_Mutation SNP T T G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr7:151842271T>G ENST00000355193.2 - 55 14530 c.14312A>C c.(14311-14313)aAa>aCa p.K4771T KMT2C_ENST00000262189.6_Missense_Mutation_p.K4714T lysine (K)-specific methyltransferase 2C GGCACTCATTTTAGGTTCAGA 0.448000 16 117 0 0 0.004990 0 0 ARID1A 8289 broad.mit.edu 37 1 27057936 27057937 + Frame_Shift_Ins INS - - C TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr1:27057936_27057937insC ENST00000324856.7 + 3 2015_2016 c.1644_1645insC c.(1642-1647)caccccfs p.HP548fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.HP165fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.HP548fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 548 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.Y551fs*72(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CCCAGAGCCAGCCCCCCTACTC 0.649 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 23 431 --- --- --- --- SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 7 13 --- --- --- --- POLDIP2 26073 broad.mit.edu 37 17 26684394 26684395 + Splice_Site INS - - G rs113730440 TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr17:26684394_26684395insG ENST00000540200.1 - 1 78 c.e1+1 POLDIP2_ENST00000003607.4_5'UTR NM_015584.3 NP_056399.1 Q9Y2S7 PDIP2_HUMAN polymerase (DNA-directed), delta interacting protein 2 mitochondrial nucleoid|nucleus all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) AGAGCGGCTTTGCCACCGGGCC 0.762 5 4 --- --- --- --- DDX5 1655 broad.mit.edu 37 17 62500099 62500102 + Splice_Site DEL ACAG ACAG - TCGA-DU-5853-01A-11D-1893-08 TCGA-DU-5853-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0750c06c-d62b-42d9-804a-a9b9d76b90ed fb0e600b-10e0-43fb-b877-0981c762da9b g.chr17:62500099_62500102delACAG ENST00000225792.5 - 4 841_843 c.441_splice c.e4+1 p.L149_splice DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.L149_splice NM_004396.3 NP_004387.1 P17844 DDX5_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 5 149 Helicase ATP-binding. cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 19 Breast(5;2.15e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) TCCCAAACTTACAGACAATGTTTT 0.397 T ETV4 prostate 7 202 --- --- --- ---