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 MGAT2 4247 broad.mit.edu 37 14 50088617 50088617 + Missense_Mutation SNP A A G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:50088617A>G ENST00000305386.2 + 1 1129 c.631A>G c.(631-633)Atc>Gtc p.I211V RP11-649E7.5_ENST00000555043.1_RNA NM_002408.3 NP_002399.1 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 211 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity cervix(1)|endometrium(3)|large_intestine(1)|lung(6) 11 all_epithelial(31;0.0021)|Breast(41;0.0124) ATTGGGGTGCATCAATGCTGA 0.493000 39 71 0 0 1 0 0 HLA-C 3107 broad.mit.edu 37 6 31239513 31239513 + Missense_Mutation SNP C C T rs41548913 TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr6:31239513C>T ENST00000383329.3 - 2 220 c.206G>A c.(205-207)gGg>gAg p.G69E HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 69 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex p.G69E(5) central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 17 CCGCGGCTCCCCTCTCGGACT 0.697000 4 50 0 0 1 0 0 LGMN 5641 broad.mit.edu 37 14 93182496 93182496 + Missense_Mutation SNP C C T TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:93182496C>T ENST00000393218.2 - 6 726 c.389G>A c.(388-390)gGc>gAc p.G130D LGMN_ENST00000555699.1_Missense_Mutation_p.G130D|LGMN_ENST00000334869.4_Missense_Mutation_p.G130D|LGMN_ENST00000557434.1_Missense_Mutation_p.G130D NM_001008530.2 NP_001008530.1 Q99538 LGMN_HUMAN legumain 130 hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process lysosome cysteine-type endopeptidase activity|protein serine/threonine kinase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2) 18 all_cancers(154;0.0706) COAD - Colon adenocarcinoma(157;0.224) CAGGACTTTGCCGGATCCTAT 0.468000 4 139 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100063871 100063871 + Missense_Mutation SNP C C T TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr4:100063871C>T ENST00000508393.1 - 3 301 c.136G>A c.(136-138)Gtt>Att p.V46I ADH4_ENST00000423445.1_Missense_Mutation_p.V46I|ADH4_ENST00000505590.1_Missense_Mutation_p.V46I|ADH4_ENST00000504581.1_5'UTR|ADH4_ENST00000265512.7_Missense_Mutation_p.V27I|RP11-696N14.1_ENST00000500358.2_RNA P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 27 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GCTACTTCAACCTCTTCAATG 0.507000 4 79 0 0 1 0 0 VWA3B 200403 broad.mit.edu 37 2 98928751 98928751 + Missense_Mutation SNP C C G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr2:98928751C>G ENST00000477737.1 + 28 4028 c.3824C>G c.(3823-3825)cCc>cGc p.P1275R VWA3B_ENST00000490947.2_3'UTR NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 1275 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GCAGCCCTGCCCTGTACTCTC 0.627000 18 38 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470489 25470489 + Missense_Mutation SNP T T G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr2:25470489T>G ENST00000264709.3 - 8 1322 c.985A>C c.(985-987)Atg>Ctg p.M329L DNMT3A_ENST00000402667.1_Missense_Mutation_p.M106L|DNMT3A_ENST00000380746.4_Missense_Mutation_p.M140L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M329L NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 329 Interaction with DNMT1 and DNMT3B.|PWWP. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGAACCACATGACCCAGCGG 0.617000 """Mis, F, N, S""" AML 15 46 0 0 1 0 0 NHLRC2 374354 broad.mit.edu 37 10 115661652 115661652 + Missense_Mutation SNP C C A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr10:115661652C>A ENST00000369301.3 + 7 1579 c.1367C>A c.(1366-1368)cCc>cAc p.P456H NM_198514.3 NP_940916.2 Q8NBF2 NHLC2_HUMAN NHL repeat containing 2 456 cell redox homeostasis breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 15 Epithelial(162;0.017)|all cancers(201;0.0187) GAAAGAGACCCCATGGTAATG 0.453000 39 54 4.92203e-23 4.92203e-23 1 1 0 CHEK2 11200 broad.mit.edu 37 22 29091841 29091841 + Silent SNP G G A rs146546850 byFrequency TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr22:29091841G>A ENST00000544772.1 - 12 1889 c.453C>T c.(451-453)tcC>tcT p.S151S CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 372 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.S372S(8) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCAAAATCTTGGAGTGCCCAA 0.413000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 52 0 0 1 0 0 PLEKHM2 23207 broad.mit.edu 37 1 16046372 16046372 + Silent SNP C C G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr1:16046372C>G ENST00000375799.3 + 6 836 c.609C>G c.(607-609)acC>acG p.T203T PLEKHM2_ENST00000375793.2_Silent_p.T203T NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 203 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TCACCTCCACCAACCTGGAGT 0.557000 10 18 0 0 1 0 0 BMP4 652 broad.mit.edu 37 14 54417562 54417562 + Missense_Mutation SNP G G A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:54417562G>A ENST00000245451.4 - 4 808 c.415C>T c.(415-417)Cgt>Tgt p.R139C BMP4_ENST00000559087.1_Missense_Mutation_p.R139C|BMP4_ENST00000417573.1_Missense_Mutation_p.R139C|BMP4_ENST00000558984.1_Missense_Mutation_p.R139C NM_001202.3 NP_001193.2 P12644 BMP4_HUMAN bone morphogenetic protein 4 139 activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway extracellular space|proteinaceous extracellular matrix BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1) 19 AAGAGGAAACGAAAAGCAGAG 0.498000 6 65 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128236 68128236 + Missense_Mutation SNP A A G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr17:68128236A>G ENST00000585558.1 + 4 501 c.113A>G c.(112-114)tAt>tGt p.Y38C KCNJ16_ENST00000283936.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000586462.1_Missense_Mutation_p.Y42C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.Y3C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.Y3C Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 3 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) AGAATGAGCTATTACGGCAGC 0.428000 9 20 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989772 70989772 + Missense_Mutation SNP T T A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr14:70989772T>A ENST00000256389.3 - 2 2097 c.1853A>T c.(1852-1854)aAt>aTt p.N618I RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 568 Cys-rich. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TACTCCCACATTTTCACACTG 0.453000 19 42 0 0 1 0 0 SAT1 6303 broad.mit.edu 37 X 23803819 23803819 + Missense_Mutation SNP G G A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chrX:23803819G>A ENST00000379270.4 + 6 541 c.362G>A c.(361-363)cGc>cAc p.R121H SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.R93H NM_002970.2 NP_002961.1 P21673 SAT1_HUMAN spermidine/spermine N1-acetyltransferase 1 121 N-acetyltransferase. angiogenesis|polyamine biosynthetic process cytosol diamine N-acetyltransferase activity|protein binding breast(1)|endometrium(3)|kidney(3)|lung(3) 10 Spermine(DB00127) ATGAGGTGTCGCTGCAGCAGC 0.418000 4 84 0 0 1 0 0 TTPAL 79183 broad.mit.edu 37 20 43113157 43113157 + Missense_Mutation SNP T T C TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr20:43113157T>C ENST00000372904.3 + 4 769 c.626T>C c.(625-627)aTt>aCt p.I209T TTPAL_ENST00000262605.4_Missense_Mutation_p.I209T|TTPAL_ENST00000372906.2_Intron NM_024331.4 NP_077307.2 Q9BTX7 TTPAL_HUMAN tocopherol (alpha) transfer protein-like 209 CRAL-TRIO. intracellular transporter activity p.I209T(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5) 18 AAAAAGGTGATTGGCATCCTC 0.468000 33 66 0 0 1 0 0 FIGN 55137 broad.mit.edu 37 2 164467612 164467612 + Missense_Mutation SNP T T G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr2:164467612T>G ENST00000333129.3 - 3 1044 c.730A>C c.(730-732)Agt>Cgt p.S244R FIGN_ENST00000409634.1_Intron NM_018086.2 NP_060556.2 Q5HY92 FIGN_HUMAN fidgetin 244 Pro-rich. nuclear matrix ATP binding|nucleoside-triphosphatase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1) 47 TAGCTGTAACTGGAGAGGTTA 0.612000 21 29 0 0 1 0 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091840 + Missense_Mutation SNP T T C rs142470496 byFrequency TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr22:29091840T>C ENST00000544772.1 - 12 1890 c.454A>G c.(454-456)Aag>Gag p.K152E CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron NM_001257387.1 NP_001244316.1 O96017 CHK2_HUMAN checkpoint kinase 2 373 FHA. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(9) central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2) 50 CCCAAAATCTTGGAGTGCCCA 0.418000 F breast Direct reversal of damage;Other conserved DNA damage response genes 5 56 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170128 90170128 + Silent SNP G G C TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr4:90170128G>C ENST00000333209.3 - 2 1652 c.1134C>G c.(1132-1134)gcC>gcG p.A378A NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 378 A -> V (in dbSNP:rs6811370). breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) ACTCCTGGGGGGCTAGCGTGC 0.562000 18 62 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144879387 144879387 + Nonsense_Mutation SNP G G A rs149886351 TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr1:144879387G>A ENST00000369359.4 - 30 4509 c.4471C>T c.(4471-4473)Cga>Tga p.R1491* PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1491*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1355*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1311*|PDE4DIP_ENST00000524974.1_5'UTR Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 1355 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding p.R1355*(2) NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGTCCTTTCGTAGGACCAAG 0.493000 T PDGFRB MPD 5 405 0 0 1 0 0 RAB40A 142684 broad.mit.edu 37 X 102755566 102755566 + Missense_Mutation SNP T T A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chrX:102755566T>A ENST00000372633.1 - 1 2237 c.119A>T c.(118-120)gAg>gTg p.E40V RAB40A_ENST00000304236.1_Missense_Mutation_p.E40V Q8WXH6 RB40A_HUMAN RAB40A, member RAS oncogene family 40 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 GTACGGGGACTCAGCTGCACC 0.622000 29 76 0 0 1 0 0 EIF3G 8666 broad.mit.edu 37 19 10229616 10229616 + Silent SNP G G A TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr19:10229616G>A ENST00000253108.4 - 4 210 c.168C>T c.(166-168)ccC>ccT p.P56P EIF3G_ENST00000587168.1_5'UTR NM_003755.3 NP_003746.2 O75821 EIF3G_HUMAN eukaryotic translation initiation factor 3, subunit G 56 cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity central_nervous_system(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05) TGACCTCCTTGGGAGGCGGCA 0.582000 14 26 0 0 1 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100552782 100552782 + RNA SNP C C G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr12:100552782C>G ENST00000397112.4 - 0 1477 NR_036632.1 large_intestine(1)|lung(3) 4 CACAGCTTTGCTTTGAGCTTT 0.597000 3 5 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9389817 9389817 + Missense_Mutation SNP A A G TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr20:9389817A>G ENST00000378501.2 + 20 1967 c.1952A>G c.(1951-1953)tAt>tGt p.Y651C PLCB4_ENST00000378473.3_Missense_Mutation_p.Y663C|PLCB4_ENST00000414679.2_Missense_Mutation_p.Y663C|PLCB4_ENST00000378493.1_Missense_Mutation_p.Y651C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.Y651C|PLCB4_ENST00000278655.4_Missense_Mutation_p.Y651C NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 651 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCACTGAACTATCAAACCCCA 0.502000 16 26 0 0 1 0 0 MYOM3 127294 broad.mit.edu 37 1 24435093 24435093 + Frame_Shift_Del DEL C C - TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr1:24435093delC ENST00000330966.7 - 2 196 c.34delG c.(34-36)acfs p.D12fs MYOM3_ENST00000329601.7_Frame_Shift_Del_p.D12fs|MYOM3_ENST00000374434.3_Frame_Shift_Del_p.D12fs Q5VTT5 MYOM3_HUMAN myomesin 3 12 NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 68 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGCCGGGGGTCCCCCGCACCT 0.667 2 4 --- --- --- --- STAG3L4 64940 broad.mit.edu 37 7 66767611 66767611 + RNA DEL T T - rs12531701 by1000genomes TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr7:66767611delT ENST00000416602.2 + 0 4 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) ACCGGACTGCTTTTTTTTTTT 0.542 2 4 --- --- --- --- FRMD4A 55691 broad.mit.edu 37 10 13698822 13698822 + Frame_Shift_Del DEL C C - TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr10:13698822delC ENST00000357447.2 - 22 3135 c.2767delG c.(2767-2769)ccfs p.A923fs FRMD4A_ENST00000358621.4_Frame_Shift_Del_p.A908fs|FRMD4A_ENST00000378503.1_Frame_Shift_Del_p.A923fs NM_018027.3 NP_060497.3 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 923 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 TCTGAGACGGCGGCACGGCCC 0.731 2 4 --- --- --- --- WDR81 124997 broad.mit.edu 37 17 1631341 1631343 + In_Frame_Del DEL GAG GAG - rs66598941 TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr17:1631341_1631343delGAG ENST00000409644.1 + 1 3088_3090 c.3088_3090delGAG c.(3088-3090)del p.E1033del WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron|RP11-961A15.1_ENST00000576540.1_RNA NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 305 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) AGGGGCTGCTGAGGAGGAGGAGA 0.695 3 4 --- --- --- --- ATP13A1 57130 broad.mit.edu 37 19 19768144 19768144 + Splice_Site DEL C C - TCGA-WB-A80Q-01A-11D-A35I-08 TCGA-WB-A80Q-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0cb12458-17ed-4f57-a546-46a9310c2575 ac1eb099-c749-4947-8a16-0230cee47df6 g.chr19:19768144delC ENST00000357324.6 - 4 777 c.e4+1 ATP13A1_ENST00000291503.5_Splice_Site NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TGCTGCTTTACCTGAAATACA 0.567 2 4 --- --- --- ---