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 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 5 54 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106836571 106836571 + Missense_Mutation SNP C C G TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr7:106836571C>G ENST00000222574.4 + 9 1546 c.1360C>G c.(1360-1362)Cag>Gag p.Q454E HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E|HBP1_ENST00000461963.1_3'UTR NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 454 cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 TGAATATACTCAGATGTATCC 0.363000 20 31 0 0 1 0 0 TUBBP5 0 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 4 121 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36872811 36872811 + Missense_Mutation SNP T T A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr17:36872811T>A ENST00000325718.7 + 10 1319 c.1228T>A c.(1228-1230)Tcc>Acc p.S410T CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 410 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CATGCGCTTCTCCACCACCAC 0.662000 T MLL AL 38 78 0 0 1 0 0 DLL1 28514 broad.mit.edu 37 6 170594119 170594119 + Silent SNP A A C TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr6:170594119A>C ENST00000366756.3 - 8 1470 c.1137T>G c.(1135-1137)ggT>ggG p.G379G NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 379 EGF-like 5. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) CTGAGCACCGACCCCCGTTAA 0.577000 6 89 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2226268 2226268 + Missense_Mutation SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr19:2226268G>A ENST00000398665.3 + 27 3784 c.3748G>A c.(3748-3750)Gac>Aac p.D1250N NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1250 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCCATCTCCGACATCGGCCT 0.677000 3 31 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2406764 2406764 + Missense_Mutation SNP T T C TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chrX:2406764T>C ENST00000381223.4 - 2 2200 c.1997A>G c.(1996-1998)gAg>gGg p.E666G ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|RP11-325D5.3_ENST00000515319.1_RNA|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G|DHRSX_ENST00000334651.5_Intron NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 666 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAGGCCCCACTCCCCCTCGTC 0.647000 4 144 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769145 18769145 + RNA SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr22:18769145G>A ENST00000412448.1 - 0 1141 TGAGGCTGCCGTTGTAGAAGG 0.612000 3 22 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64968101 64968101 + Missense_Mutation SNP G G T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr10:64968101G>T ENST00000399262.2 - 10 3546 c.3328C>A c.(3328-3330)Cca>Aca p.P1110T JMJD1C_ENST00000402544.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000399251.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P928T NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1110 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TCTTTGGATGGGTATGATCTT 0.383000 4 185 0.150653 0.150653 1 1 0 JPH3 57338 broad.mit.edu 37 16 87678405 87678405 + Silent SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr16:87678405G>A ENST00000284262.2 + 2 1166 c.924G>A c.(922-924)ggG>ggA p.G308G NM_020655.2 NP_065706.2 Q8WXH2 JPH3_HUMAN junctophilin 3 308 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GCTCGGACGGGCTCAAGTACG 0.642000 4 101 0 0 1 0 0 ATG2A 23130 broad.mit.edu 37 11 64665787 64665787 + Silent SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr11:64665787C>T ENST00000421419.2 - 33 4839 c.4725G>A c.(4723-4725)ggG>ggA p.G1575G ATG2A_ENST00000377264.3_Silent_p.G1573G Q2TAZ0 ATG2A_HUMAN autophagy related 2A 1573 protein binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 55 AGCACTCAGGCCCACCCAGGT 0.637000 OREG0004029 type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 16 0 0 1 0 0 MAP3K4 4216 broad.mit.edu 37 6 161528964 161528964 + Missense_Mutation SNP T T G TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr6:161528964T>G ENST00000392142.4 + 21 4230 c.4082T>G c.(4081-4083)aTc>aGc p.I1361S MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S|MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S NM_005922.2 NP_005913.2 Q9Y6R4 M3K4_HUMAN mitogen-activated protein kinase kinase kinase 4 1361 Protein kinase. activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) TACACCTGCATCAGCGTCGAC 0.552000 6 71 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547108 132547108 + Silent SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr12:132547108G>A ENST00000333577.4 + 48 8413 c.8304G>A c.(8302-8304)caG>caA p.Q2768Q EP400_ENST00000330386.6_Silent_p.Q2651Q|EP400_ENST00000389562.2_Silent_p.Q2731Q|EP400_ENST00000389561.2_Silent_p.Q2732Q|EP400_ENST00000332482.4_Silent_p.Q2695Q Q96L91 EP400_HUMAN E1A binding protein p400 2768 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 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) agcagcagcagcagcagcagc 0.587000 4 67 0 0 1 0 0 TCIRG1 10312 broad.mit.edu 37 11 67816587 67816587 + Silent SNP G G T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr11:67816587G>T ENST00000265686.3 + 15 1821 c.1713G>T c.(1711-1713)ctG>ctT p.L571L TCIRG1_ENST00000532635.1_Silent_p.L355L NM_006019.3 NP_006010.2 Q13488 VPP3_HUMAN T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3 571 ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1) 16 TGGAGACGCTGCCGGAGCTCA 0.667000 5 185 0.00116845 0.00119766 1 1 0 COIL 8161 broad.mit.edu 37 17 55038183 55038183 + Missense_Mutation SNP C C G TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr17:55038183C>G ENST00000240316.4 - 1 232 c.198G>C c.(196-198)ttG>ttC p.L66F NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 66 Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) CGGCGGGGGGCAAGAGCCCCC 0.697000 7 10 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184042726 184042726 + Missense_Mutation SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr3:184042726C>T ENST00000342981.4 + 17 3097 c.2683C>T c.(2683-2685)Cgc>Tgc p.R895C EIF4G1_ENST00000392537.2_Missense_Mutation_p.R807C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R901C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R808C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R730C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R698C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R894C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R731C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R854C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R894C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R699C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R855C|EIF2B5_ENST00000444495.1_Intron NM_182917.4 NP_886553.3 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 894 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) AGCCCGGCGGCGCTCTTTAGG 0.478000 4 140 0 0 1 0 0 PRKCQ 5588 broad.mit.edu 37 10 6472890 6472890 + Missense_Mutation SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr10:6472890C>T ENST00000263125.5 - 17 1946 c.1847G>A c.(1846-1848)cGa>cAa p.R616Q PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q|PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q NM_006257.3 NP_006248.1 Q04759 KPCT_HUMAN protein kinase C, theta 616 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2) 45 CTCAGGTTCTCGCACGAAGAG 0.587000 20 36 0 0 1 0 0 AMZ2 51321 broad.mit.edu 37 17 66246612 66246612 + Splice_Site SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr17:66246612G>A ENST00000359904.3 + 2 1415 c.e2+1 AMZ2_ENST00000585050.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site|AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) CAGTCCATTGGTAAATACTGG 0.463000 13 145 0 0 1 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf 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 20 35 0 0 1 0 0 SPTBN2 6712 broad.mit.edu 37 11 66454995 66454995 + Missense_Mutation SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr11:66454995G>A ENST00000533211.1 - 35 6956 c.6625C>T c.(6625-6627)Ccg>Tcg p.P2209S SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2209S|SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2209S O15020 SPTN2_HUMAN spectrin, beta, non-erythrocytic 2 2209 actin filament capping|axon guidance|cell death|vesicle-mediated transport cytosol|spectrin actin binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 74 CCTCGAGGCGGCAGGGTGGCA 0.672000 5 120 0 0 1 0 0 ZNF493 284443 broad.mit.edu 37 19 21606712 21606712 + Silent SNP T T C TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr19:21606712T>C ENST00000392288.2 + 4 1360 c.1251T>C c.(1249-1251)tcT>tcC p.S417S ZNF493_ENST00000355504.4_Silent_p.S289S|CTD-2561J22.3_ENST00000600810.1_Intron NM_001076678.2 NP_001070146.1 Q6ZR52 ZN493_HUMAN zinc finger protein 493 289 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 ATAAGGAGTCTTCACACCTTA 0.348000 3 46 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152409936 152409936 + Silent SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr2:152409936C>T ENST00000397345.3 - 127 19909 c.19707G>A c.(19705-19707)aaG>aaA p.K6569K NEB_ENST00000604864.1_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K|NEB_ENST00000172853.10_Silent_p.K4868K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000409198.1_Silent_p.K4868K NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 4868 Interaction with SVIL. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CATAAGCATGCTTGGCATGGA 0.398000 26 48 0 0 1 0 0 FAM214A 56204 broad.mit.edu 37 15 52901049 52901049 + Missense_Mutation SNP T T C TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr15:52901049T>C ENST00000261844.7 - 6 2214 c.2062A>G c.(2062-2064)Act>Gct p.T688A FAM214A_ENST00000546305.2_Missense_Mutation_p.T695A NM_019600.2 NP_062546.2 Q32MH5 K1370_HUMAN family with sequence similarity 214, member A 688 TCCAACACAGTAACTTTTATT 0.284000 10 31 0 0 1 0 0 GATSL3 652968 broad.mit.edu 37 22 30683477 30683477 + Missense_Mutation SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr22:30683477C>T ENST00000407689.3 - 3 386 c.257G>A c.(256-258)gGt>gAt p.G86D GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D|RP1-130H16.18_ENST00000447976.1_3'UTR NM_001037666.2 NP_001032755.1 GATS protein-like 3 breast(1)|endometrium(1)|lung(1) 3 CACTGCCGCACCGCTGTGAGA 0.627000 OREG0026457 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 35 0 0 1 0 0 TEKT4P2 0 broad.mit.edu 37 21 9907222 9907222 + RNA SNP T T C rs4023131 TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr21:9907222T>C ENST00000416067.1 - 0 1570 NR_037872.1|NR_038327.1 ATTTGGGGGATTGGGGGGAAG 0.587000 5 14 0 0 1 0 0 TANC2 26115 broad.mit.edu 37 17 61498201 61498201 + Missense_Mutation SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr17:61498201C>T ENST00000424789.2 + 25 4862 c.4858C>T c.(4858-4860)Cca>Tca p.P1620S TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S|RP11-269G24.3_ENST00000583552.1_RNA NM_025185.3 NP_079461.2 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 1620 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3) 44 CCAGCCCAGCCCAGCCGTCCA 0.577000 44 110 0 0 1 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120312904 120312904 + Missense_Mutation SNP G G T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr11:120312904G>T ENST00000397843.2 + 15 1461 c.1295G>T c.(1294-1296)cGa>cTa p.R432L ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L NM_015313.2 NP_056128.1 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 432 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) TTTCTAGATCGATCAGCAGTA 0.388000 T MLL AML 10 16 0.000673444 0.00070798 1 1 0 SLC38A10 124565 broad.mit.edu 37 17 79219799 79219799 + Nonsense_Mutation SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr17:79219799G>A ENST00000374759.3 - 16 3300 c.2917C>T c.(2917-2919)Cag>Tag p.Q973* NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 973 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CGGTGGCCCTGCTGTCCACCC 0.692000 34 48 0 0 1 0 0 VNN3 55350 broad.mit.edu 37 6 133047924 133047924 + Missense_Mutation SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr6:133047924C>T ENST00000207771.3 - 5 835 c.763G>A c.(763-765)Gcc>Acc p.A255T VNN3_ENST00000417437.2_Intron|VNN3_ENST00000427187.2_Intron|VNN3_ENST00000425515.2_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000275223.3_Intron|VNN3_ENST00000367927.5_Silent_p.G255G|VNN3_ENST00000423615.2_Intron|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000450865.2_Missense_Mutation_p.G134D|VNN3_ENST00000509351.1_Intron vanin 3 cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 8 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168) ATGGCCTTGGCCCATGCTGAA 0.547000 5 144 0 0 1 0 0 MAPK15 225689 broad.mit.edu 37 8 144803509 144803509 + Missense_Mutation SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr8:144803509C>T ENST00000338033.4 + 11 1251 c.1132C>T c.(1132-1134)Cct>Tct p.P378S NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 378 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CCCTCAGCTGCCTTCTAGGAC 0.672000 63 95 0 0 1 0 0 LDHB 3945 broad.mit.edu 37 12 21797028 21797028 + Missense_Mutation SNP C C T rs145369309 TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr12:21797028C>T ENST00000396076.1 - 4 594 c.262G>A c.(262-264)Gcc>Acc p.A88T LDHB_ENST00000350669.1_Missense_Mutation_p.A88T NM_001174097.1 NP_001167568.1 P07195 LDHB_HUMAN lactate dehydrogenase B 88 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 26 NADH(DB00157) TTAGAATTGGCAGTCACAGAA 0.373000 3 49 0 0 1 0 0 PRR19 284338 broad.mit.edu 37 19 42814088 42814088 + Missense_Mutation SNP C C T TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr19:42814088C>T ENST00000499536.2 + 1 1163 c.352C>T c.(352-354)Cca>Tca p.P118S PRR19_ENST00000341747.3_Missense_Mutation_p.P118S|PRR19_ENST00000598490.1_Missense_Mutation_p.P118S A6NJB7 PRR19_HUMAN proline rich 19 118 NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 10 Prostate(69;0.00682) GGAACCAGCCCCACGGTCCAG 0.672000 5 22 0 0 1 0 0 TUBA4B 0 broad.mit.edu 37 2 220136248 220136248 + RNA SNP G G A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr2:220136248G>A ENST00000490341.1 + 0 718 NR_003063.1 GCGCTTTGACGGGGCCCTCAA 0.552000 4 78 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55259245 55259245 + Missense_Mutation SNP T T G TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr5:55259245T>G ENST00000381298.2 - 7 1060 c.748A>C c.(748-750)Aag>Cag p.K250Q IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 250 Fibronectin type-III 2. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) ATAACACTCTTAATACTTGGG 0.343000 O hepatocellular ca 5 38 0 0 1 0 0 ANKRD36 375248 broad.mit.edu 37 2 97808574 97808575 + Splice_Site INS - - A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr2:97808574_97808575insA ENST00000420699.2 + 8 1145 c.e8+2 ANKRD36_ENST00000461153.2_Splice_Site NM_001164315.1 NP_001157787.1 A6QL64 AN36A_HUMAN ankyrin repeat domain 36 p.?(1) endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 23 CTGGGACAGGTATTTTGGAATA 0.366 6 4 --- --- --- --- TREX1 11277 broad.mit.edu 37 3 48508260 48508261 + Frame_Shift_Del DEL TG TG - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr3:48508260_48508261delTG ENST00000296443.9 + 3 1093_1094 c.206_207delTG c.(205-207)cfs p.L69fs TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|TREX1_ENST00000422277.2_Frame_Shift_Del_p.L124fs|TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000433541.1_5'UTR|TREX1_ENST00000456089.1_Intron Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 124 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3) 9 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) AAGCTCTCCCTGTGTGTGGCTC 0.634 67 146 --- --- --- --- ZBTB20 26137 broad.mit.edu 37 3 114058232 114058234 + In_Frame_Del DEL AGA AGA - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr3:114058232_114058234delAGA ENST00000462705.1 - 12 2446_2448 c.1625_1627delTCT c.(1624-1629)tcc>t p.FS542del ZBTB20_ENST00000393785.2_In_Frame_Del_p.FS542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.FS542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.FS542del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.FS615del NM_001164343.1 NP_001157815.1 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 615 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 48 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) TCCTTTAAGGAGAAGGAGCGCCA 0.502 28 68 --- --- --- --- MBD4 8930 broad.mit.edu 37 3 129155397 129155399 + In_Frame_Del DEL CTT CTT - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr3:129155397_129155399delCTT ENST00000429544.2 - 3 1283_1285 c.1088_1090delAAG c.(1087-1092)gtt>g p.EV363del MBD4_ENST00000503197.1_In_Frame_Del_p.EV363del|MBD4_ENST00000249910.1_In_Frame_Del_p.EV363del|MBD4_ENST00000507208.1_In_Frame_Del_p.EV363del|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron NM_001276270.1 NP_001263199.1 O95243 MBD4_HUMAN methyl-CpG binding domain protein 4 363 depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 CTTTCCACAACTTCTACTTTTGT 0.384 Base excision repair (BER), DNA glycosylases 24 53 --- --- --- --- DST 667 broad.mit.edu 37 6 56336894 56336896 + In_Frame_Del DEL CTT CTT - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr6:56336894_56336896delCTT ENST00000370754.5 - 94 22025_22027 c.22026_22028delAAG c.(22024-22029)agg>ag p.RR7342del DST_ENST00000244364.6_In_Frame_Del_p.RR4750del|DST_ENST00000370788.2_In_Frame_Del_p.RR4967del|DST_ENST00000361203.3_In_Frame_Del_p.RR7053del|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_In_Frame_Del_p.RR6838del|DST_ENST00000370769.4_In_Frame_Del_p.RR7164del|DST_ENST00000421834.2_Intron Q03001 DYST_HUMAN dystonin 7162 GAR. cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) GAGTTTCCTCCTTCTTTCCAACG 0.453 47 103 --- --- --- --- MYO6 4646 broad.mit.edu 37 6 76604544 76604544 + Frame_Shift_Del DEL C C - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr6:76604544delC ENST00000369981.3 + 29 3403 c.3124delC c.(3124-3126)cgfs p.P1042fs MYO6_ENST00000369975.1_Intron|MYO6_ENST00000369977.3_Intron|MYO6_ENST00000369985.4_Intron Q9UM54 MYO6_HUMAN myosin VI 1042 actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) GGATTCCTATCCGGTAACTTC 0.289 2 4 --- --- --- --- ABCB1 5243 broad.mit.edu 37 7 87170760 87170762 + In_Frame_Del DEL ATC ATC - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr7:87170760_87170762delATC ENST00000265724.3 - 19 2647_2649 c.2230_2232delGAT c.(2230-2232)del p.D744del ABCB1_ENST00000543898.1_In_Frame_Del_p.D680del NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 744 ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TTGTTTCAGGATCATCAATTCTT 0.355 10 79 --- --- --- --- DOK2 9046 broad.mit.edu 37 8 21769438 21769438 + Frame_Shift_Del DEL T T - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr8:21769438delT ENST00000276420.4 - 3 665 c.407delA c.(406-408)atfs p.N136fs DOK2_ENST00000544659.1_Intron NM_003974.2 NP_003965.2 O60496 DOK2_HUMAN docking protein 2, 56kDa 136 blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1) 26 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) GTACAATTCATTTTCCTCCAT 0.667 2 4 --- --- --- --- EFR3A 23167 broad.mit.edu 37 8 132968053 132968055 + In_Frame_Del DEL AAG AAG - rs138896182 TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr8:132968053_132968055delAAG ENST00000254624.5 + 7 902_904 c.677_679delAAG c.(676-681)aaa>a p.KE226del EFR3A_ENST00000334503.4_In_Frame_Del_p.KE226del|EFR3A_ENST00000519656.1_In_Frame_Del_p.KE190del NM_015137.4 NP_055952.2 Q14156 EFR3A_HUMAN EFR3 homolog A (S. cerevisiae) 226 plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2) 35 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) GCAACTGACAAAGAAGAGAATCC 0.384 35 107 --- --- --- --- NOTCH1 4851 broad.mit.edu 37 9 139413129 139413131 + In_Frame_Del DEL TCA TCA - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr9:139413129_139413131delTCA ENST00000277541.6 - 6 1086_1088 c.1011_1013delTGA c.(1009-1014)gac>ga p.DD337del NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 337 EGF-like 9; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GCTGGCACAGTCATCAATGTTCT 0.631 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 14 46 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42731630 42731632 + In_Frame_Del DEL TTC TTC - TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr15:42731630_42731632delTTC ENST00000263805.4 - 8 4400_4402 c.4074_4076delGAA c.(4072-4077)aaa>aa p.KK1358del ZNF106_ENST00000565380.1_In_Frame_Del_p.KK586del|ZNF106_ENST00000565611.1_In_Frame_Del_p.KK543del NM_022473.1 NP_071918.1 zinc finger protein 106 p.K1358K(1) CCGTAGACTTTTCTTCTTCCGGA 0.438 8 230 --- --- --- --- AC008103.5 0 broad.mit.edu 37 22 18843723 18843724 + RNA INS - - A TCGA-P5-A5ET-01A-11D-A27K-08 TCGA-P5-A5ET-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 236fee8c-7daa-4486-9f81-62c185c37644 01325296-d7a6-46e7-bd59-30809d85a1cf g.chr22:18843723_18843724insA ENST00000412938.1 + 0 2337 AGGGGCACCCCACGGCCTGGAG 0.619 8 16 --- --- --- ---