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 NCAPG2 54892 broad.mit.edu 37 7 158448053 158448053 + Missense_Mutation SNP A A G TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr7:158448053A>G ENST00000409339.3 - 20 2596 c.2483T>C c.(2482-2484)cTg>cCg p.L828P NCAPG2_ENST00000449727.2_Missense_Mutation_p.L828P|NCAPG2_ENST00000275830.10_Missense_Mutation_p.L620P|NCAPG2_ENST00000409423.1_Missense_Mutation_p.L828P|NCAPG2_ENST00000356309.3_Missense_Mutation_p.L828P|NCAPG2_ENST00000541468.1_Missense_Mutation_p.L329P Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 828 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) ATGGATGCTCAGGCGACAGTG 0.522000 4 481 0 0 0.000602 0 0 TG 7038 broad.mit.edu 37 8 133885318 133885318 + Missense_Mutation SNP T T G TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr8:133885318T>G ENST00000220616.4 + 5 530 c.490T>G c.(490-492)Tgt>Ggt p.C164G TG_ENST00000377869.1_Missense_Mutation_p.C164G NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 164 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TCCAAGGAGCTGTGAAATAAG 0.448000 5 36 0 0 0.001168 0 0 GPR133 283383 broad.mit.edu 37 12 131484927 131484927 + Splice_Site SNP G G C TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr12:131484927G>C ENST00000261654.5 + 9 1525 c.e9-1 GPR133_ENST00000535015.1_Splice_Site NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TCCACCTTTAGACCTTCTTAA 0.478000 28 95 0 0 0.008361 0 0 MST4 0 broad.mit.edu 37 X 131205246 131205246 + Splice_Site SNP G G A TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chrX:131205246G>A ENST00000394334.2 + 8 1185 c.e8+1 MST4_ENST00000481105.1_Splice_Site|MST4_ENST00000354719.6_Splice_Site|MST4_ENST00000394335.2_Splice_Site|MST4_ENST00000496850.1_Splice_Site NM_016542.3 NP_057626.2 Q9P289 MST4_HUMAN cellular component disassembly involved in apoptosis|regulation of apoptosis cytosol|Golgi membrane ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(192;0.000127) GCTCTGATTCGTATGTACAAA 0.348000 12 110 0 0 0.000978 0 0 EDDM3B 64184 broad.mit.edu 37 14 21238577 21238577 + Nonsense_Mutation SNP C C T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr14:21238577C>T ENST00000326783.3 + 2 366 c.268C>T c.(268-270)Cga>Tga p.R90* NM_022360.4 NP_071755.1 P56851 EP3B_HUMAN epididymal protein 3B 90 spermatid development extracellular region central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 GGATCGCTTCCGAAATGCATA 0.408000 58 63 0 0 0.003610 0 0 TRAPPC10 7109 broad.mit.edu 37 21 45511884 45511884 + Missense_Mutation SNP A A G TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr21:45511884A>G ENST00000291574.4 + 19 3126 c.2951A>G c.(2950-2952)gAt>gGt p.D984G TRAPPC10_ENST00000483973.1_3'UTR NM_003274.4 NP_003265.3 P48553 TPC10_HUMAN trafficking protein particle complex 10 984 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4) 41 GATACCGGTGATAGTACCGAC 0.408000 4 123 0 0 0.000248 0 0 EFNB3 1949 broad.mit.edu 37 17 7612771 7612771 + Silent SNP C C T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr17:7612771C>T ENST00000226091.2 + 5 1297 c.900C>T c.(898-900)ggC>ggT p.G300G NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 300 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGCGGGGTGGCGGGGCTGCAG 0.667000 15 85 0 0 0.006122 0 0 AHNAK2 113146 broad.mit.edu 37 14 105409977 105409977 + Silent SNP G G A TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr14:105409977G>A ENST00000333244.5 - 7 11930 c.11811C>T c.(11809-11811)gaC>gaT p.D3937D AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3937 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGGCCTCGACGTCCACCTCCA 0.597000 6 408 0 0 0.006214 0 0 CTTN 2017 broad.mit.edu 37 11 70282508 70282508 + Silent SNP C C T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr11:70282508C>T ENST00000376561.3 + 19 2070 c.1899C>T c.(1897-1899)tgC>tgT p.C633C CTTN_ENST00000346329.3_3'UTR|CTTN_ENST00000301843.8_3'UTR NM_001184740.1 NP_001171669.1 Q14247 SRC8_HUMAN cortactin 0 cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 31 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) TCCCGGAGTGCCCGTGAAGCG 0.532000 4 176 0 0 0.000602 0 0 CDH9 1007 broad.mit.edu 37 5 26890658 26890658 + Silent SNP C C T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr5:26890658C>T ENST00000231021.4 - 8 1441 c.1269G>A c.(1267-1269)cgG>cgA p.R423R NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 423 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 TATCAGTATGCCGATCAACAG 0.388000 4 120 0 0 0.000248 0 0 CSMD3 114788 broad.mit.edu 37 8 113529419 113529419 + Missense_Mutation SNP G G A TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr8:113529419G>A ENST00000297405.5 - 28 4844 c.4600C>T c.(4600-4602)Ccc>Tcc p.P1534S CSMD3_ENST00000343508.3_Missense_Mutation_p.P1494S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1430S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1534S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1534 Sushi 8. integral to membrane|plasma membrane p.P1534T(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CCATTCATGGGGACCCCTGGG 0.428000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 3 32 0 0 0.004672 0 0 GPX8 493869 broad.mit.edu 37 5 54456042 54456042 + Missense_Mutation SNP C C T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr5:54456042C>T ENST00000296734.6 + 1 46 c.22C>T c.(22-24)Ccg>Tcg p.P8S CDC20B_ENST00000322374.6_Intron|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000334206.5_Intron|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000515370.1_Missense_Mutation_p.P8S|GPX8_ENST00000503787.1_Missense_Mutation_p.P8S Q8TED1 GPX8_HUMAN glutathione peroxidase 8 (putative) 8 response to oxidative stress integral to membrane glutathione peroxidase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) TGCAGCTTACCCGCTAAAATG 0.448000 45 40 0 0 0.003610 0 0 PI4K2B 55300 broad.mit.edu 37 4 25265420 25265420 + Missense_Mutation SNP A A G TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr4:25265420A>G ENST00000264864.6 + 7 1216 c.1027A>G c.(1027-1029)Att>Gtt p.I343V PI4K2B_ENST00000512921.1_Missense_Mutation_p.I247V NM_018323.3 NP_060793.2 Q8TCG2 P4K2B_HUMAN phosphatidylinositol 4-kinase type 2 beta 343 PI3K/PI4K. cytoplasm|membrane 1-phosphatidylinositol 4-kinase activity|ATP binding endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3) 15 Breast(46;0.173) AATAGCTGCAATTGATAATGG 0.303000 41 50 0 0 0.002852 0 0 SPATA25 128497 broad.mit.edu 37 20 44515629 44515629 + Missense_Mutation SNP T T C TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr20:44515629T>C ENST00000372519.3 - 2 255 c.211A>G c.(211-213)Agg>Ggg p.R71G NM_080608.3 NP_542175.1 Q9BR10 CT165_HUMAN spermatogenesis associated 25 71 integral to membrane GGGCAGCCCCTGGCTTGTGGC 0.642000 73 210 0 0 0.003610 0 0 PRKAG2 51422 broad.mit.edu 37 7 151573629 151573629 + Missense_Mutation SNP G G A TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr7:151573629G>A ENST00000287878.4 - 1 581 c.77C>T c.(76-78)gCc>gTc p.A26V NM_016203.3 NP_057287.2 Q9UGJ0 AAKG2_HUMAN protein kinase, AMP-activated, gamma 2 non-catalytic subunit 26 ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process AMP-activated protein kinase complex|cytosol|nucleoplasm ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1) 26 all_neural(206;0.187) all_hematologic(28;0.0605) OV - Ovarian serous cystadenocarcinoma(82;0.00252) UCEC - Uterine corpus endometrioid carcinoma (81;0.185) CTTCTGGCTGGCATTTTTCTT 0.607000 4 150 0 0 0.001168 0 0 GRIK1 2897 broad.mit.edu 37 21 31023467 31023467 + Missense_Mutation SNP C C T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr21:31023467C>T ENST00000399914.1 - 6 1446 c.925G>A c.(925-927)Gag>Aag p.E309K GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399907.1_Missense_Mutation_p.E309K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E309K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E309K|GRIK1_ENST00000309434.7_Missense_Mutation_p.E309K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E309K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E309K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E309K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E309K P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 309 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.E309K(2) NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AGGCCAGTCTCGGGCCTGGGT 0.463000 11 62 0 0 0.002450 0 0 PCSK1 5122 broad.mit.edu 37 5 95735729 95735729 + Missense_Mutation SNP G G A TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr5:95735729G>A ENST00000311106.3 - 10 1595 c.1358C>T c.(1357-1359)gCt>gTt p.A453V PCSK1_ENST00000508626.1_Missense_Mutation_p.A406V|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 453 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CCTGGGGTCAGCTAAATCCAC 0.463000 3 91 0 0 0.000248 0 0 ZNF799 90576 broad.mit.edu 37 19 12502821 12502821 + Missense_Mutation SNP A A G rs2902319 TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr19:12502821A>G ENST00000419318.1 - 4 1044 c.295T>C c.(295-297)Tat>Cat p.Y99H CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.Y131H|CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.Y131H Q96GE5 ZN799_HUMAN zinc finger protein 799 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y131H(1) breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TGATACTCATATGGTTTGTGC 0.448000 3 99 0 0 0.004672 0 0 ELL 8178 broad.mit.edu 37 19 18572546 18572546 + Missense_Mutation SNP C C T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr19:18572546C>T ENST00000262809.4 - 5 657 c.586G>A c.(586-588)Gtg>Atg p.V196M NM_006532.3 NP_006523.1 P55199 ELL_HUMAN elongation factor RNA polymerase II 196 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) CCCCCACTCACGGCACTGGCA 0.667000 T MLL AL OREG0025366 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 39 0 0 0.002780 0 0 NEDD4L 0 broad.mit.edu 37 18 55998052 55998052 + Missense_Mutation SNP G G T TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr18:55998052G>T ENST00000456986.1 + 11 1133 c.533G>T c.(532-534)gGa>gTa p.G178V NEDD4L_ENST00000400345.3_Missense_Mutation_p.G299V|NEDD4L_ENST00000456173.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000586263.1_Missense_Mutation_p.G291V|NEDD4L_ENST00000431212.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000356462.6_Missense_Mutation_p.G299V|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.G178V|NEDD4L_ENST00000357895.5_Missense_Mutation_p.G291V|NEDD4L_ENST00000256832.7_Missense_Mutation_p.G178V|NEDD4L_ENST00000256830.9_Missense_Mutation_p.G299V|NEDD4L_ENST00000382850.4_Missense_Mutation_p.G299V NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 299 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 GCCTCCCCAGGATCTCGGACC 0.542000 6 47 0.00116845 0.00191625 0.001168 1 0 STAG3L4 0 broad.mit.edu 37 7 66772495 66772495 + RNA DEL T T - TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr7:66772495delT ENST00000416602.2 + 0 362 NR_040586.1 Q8TBR4 STG34_HUMAN endometrium(2)|lung(5) 7 Lung NSC(55;0.0839)|all_lung(88;0.181) GCTTGATTCCTTTTTTTTTTT 0.423 3 4 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269189 31269190 + RNA INS - - ATCAT rs35880498 TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr12:31269189_31269190insATCAT ENST00000542490.1 - 0 165 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CATGAGAACTCATTACCATGAT 0.351 2 4 --- --- --- --- RP11-305B6.3 0 broad.mit.edu 37 14 44760816 44760816 + RNA DEL A A - TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr14:44760816delA ENST00000553827.1 - 0 69 CTCTCCTAATAAAAAAAAAAT 0.393 2 4 --- --- --- --- RP11-133K1.6 0 broad.mit.edu 37 15 40605564 40605564 + RNA DEL T T - rs34245616 TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr15:40605564delT ENST00000559030.1 + 0 749 CAAGAGAGAGTTTTTTTtttt 0.473 2 4 --- --- --- --- ZNF850 342892 broad.mit.edu 37 19 37238763 37238764 + Frame_Shift_Del DEL GT GT - TCGA-EM-A3AI-01A-11D-A202-08 TCGA-EM-A3AI-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx e2d60229-ba66-4c45-968a-72292b48add3 466ebb6e-b9e9-4556-9f48-3b7685f0f4e2 g.chr19:37238763_37238764delGT ENST00000591344.1 - 5 3336_3337 c.3178_3179delAC c.(3178-3180)tfs p.T1060fs ZNF850_ENST00000589390.1_Intron NM_001193552.1|NM_001267779.1 NP_001180481.1|NP_001254708.1 A8MQ14 ZN850_HUMAN zinc finger protein 850 1060 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TTTCTCGCCAGTGTGAACACTC 0.421 2 4 --- --- --- ---