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 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 uc011acs.2 - 5 1389 c.925G>A c.(925-927)Gag>Aag p.E309K GRIK1_uc002ynn.3_Missense_Mutation_p.E309K|GRIK1_uc011act.2_Missense_Mutation_p.E253K|GRIK1_uc002yno.1_Missense_Mutation_p.E309K|GRIK1_uc010glq.1_Missense_Mutation_p.E167K|GRIK1_uc002ynr.3_Missense_Mutation_p.E309K NM_000830 NP_000821 P39086 GRIK1_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA. 309 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity p.E309K(3)|p.E309E(1) 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 1 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 uc001opu.3 + 18 2105 c.1899C>T c.(1897-1899)tgC>tgT p.C633C CTTN_uc001opv.4_3'UTR|CTTN_uc001opw.4_3'UTR|CTTN_uc001opx.3_3'UTR NM_001184740 NP_001171669 Q14247 SRC8_HUMAN Homo sapiens cortactin (CTTN), transcript variant 3, mRNA. 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 1 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 uc001vyd.3 + 1 366 c.268C>T c.(268-270)Cga>Tga p.R90* EDDM3B_uc021ron.1_Nonsense_Mutation_p.R90* NM_022360 NP_071755 P56851 EP3B_HUMAN Homo sapiens epididymal protein 3B (EDDM3B), mRNA. 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 1 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 uc003kls.2 - 9 1597 c.1358C>T c.(1357-1359)gCt>gTt p.A453V PCSK1_uc010jbi.2_Missense_Mutation_p.A143V|PCSK1_uc021ybq.1_Missense_Mutation_p.A406V NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 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 1 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 uc003ynu.3 - 27 4759 c.4600C>T c.(4600-4602)Ccc>Tcc p.P1534S CSMD3_uc003yns.3_Missense_Mutation_p.P806S|CSMD3_uc003ynt.3_Missense_Mutation_p.P1494S|CSMD3_uc011lhx.2_Missense_Mutation_p.P1430S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1534 Sushi 8. integral to membrane|plasma membrane p.P1534T(2) 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 1 0 0 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 uc011kwe.1 - 19 2628 c.2483T>C c.(2482-2484)cTg>cCg p.L828P NCAPG2_uc010lqu.1_Missense_Mutation_p.L620P|NCAPG2_uc003wnx.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnv.1_Missense_Mutation_p.L828P|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.L329P|NCAPG2_uc011kwd.1_Missense_Mutation_p.L271P NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA. 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 1 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 uc003grk.2 + 6 1160 c.1027A>G c.(1027-1029)Att>Gtt p.I343V PI4K2B_uc011bxs.2_Missense_Mutation_p.I247V NM_018323 NP_060793 Q8TCG2 P4K2B_HUMAN Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA. 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 1 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 uc003jpq.2 + 0 59 c.22C>T c.(22-24)Ccg>Tcg p.P8S CDC20B_uc003jpo.2_Intron|CDC20B_uc003jpn.2_Intron|CDC20B_uc010ivu.2_Intron|CDC20B_uc010ivv.2_Intron|CDC20B_uc003jpp.3_Intron|GPX8_uc003jpr.2_Missense_Mutation_p.P8S|GPX8_uc003jps.2_Non-coding_Transcript|GPX8_uc003jpt.2_Missense_Mutation_p.P8S NM_001008397 NP_001008398 Q8TED1 GPX8_HUMAN Homo sapiens glutathione peroxidase 8 (putative) (GPX8), mRNA. 8 response to oxidative stress integral to membrane glutathione peroxidase activity p.P8P(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1) 11 Glutathione(DB00143) TGCAGCTTACCCGCTAAAATG 0.448000 45 40 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62657293 62657293 + Splice_Site 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.chr20:62657293C>T uc002yho.3 + 15 2077 c.1909_splice c.e15-1 p.A637_splice PRPF6_uc002yhp.3_Intron NM_012469 NP_036601 O94906 PRP6_HUMAN Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA. 637 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) GCCCTTCAGGCCAACCCCAAC 0.612000 127 419 0 0 1 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 uc010tbm.2 + 10 1622 c.1063_splice c.e10-1 p.T355_splice GPR133_uc001uit.4_Splice_Site_p.T323_splice NM_198827 NP_942122 Q6QNK2 GP133_HUMAN Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA. 323 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 1 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 uc002gis.3 + 4 1297 c.900C>T c.(898-900)ggC>ggT p.G300G NM_001406 NP_001397 Q15768 EFNB3_HUMAN Homo sapiens ephrin-B3 (EFNB3), mRNA. 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 1 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 uc010axc.1 - 6 11931 c.11811C>T c.(11809-11811)gaC>gaT p.D3937D AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D3837D NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 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 1 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 uc002zea.3 + 18 3120 c.2951A>G c.(2950-2952)gAt>gGt p.D984G TRAPPC10_uc010gpo.3_Missense_Mutation_p.D695G|TRAPPC10_uc011afa.2_Missense_Mutation_p.D362G|TRAPPC10_uc011afb.1_Missense_Mutation_p.D89G NM_003274 NP_003265 P48553 TPC10_HUMAN Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA. 984 vesicle-mediated transport Golgi apparatus|integral to membrane binding|sodium ion transmembrane transporter activity p.G983D(1) 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 1 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 uc002xqf.3 - 1 220 c.211A>G c.(211-213)Agg>Ggg p.R71G NM_080608 NP_542175 Q9BR10 CT165_HUMAN Homo sapiens spermatogenesis associated 25 (SPATA25), mRNA. 71 integral to membrane GGGCAGCCCCTGGCTTGTGGC 0.642000 73 210 0 0 1 0 0 MST4 51765 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 uc011mux.1 + 9 1299 c.998_splice c.e9+1 p.S333_splice MST4_uc004ewk.1_Splice_Site_p.S311_splice|MST4_uc004ewl.1_Splice_Site_p.S234_splice|MST4_uc010nrj.1_Splice_Site_p.S311_splice|MST4_uc004ewm.1_Splice_Site_p.S249_splice NM_016542 NP_057626 Q9P289 MST4_HUMAN Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA. 311 cellular component disassembly involved in apoptosis|regulation of apoptosis Golgi membrane|cytosol 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 1 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 uc002njh.3 - 4 658 c.586G>A c.(586-588)Gtg>Atg p.V196M ELL_uc010ebq.3_Missense_Mutation_p.V139M|ELL_uc002njg.3_Missense_Mutation_p.V63M NM_006532 NP_006523 P55199 ELL_HUMAN Homo sapiens elongation factor RNA polymerase II (ELL), mRNA. 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 1 0 0 NEDD4L 23327 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 uc002lgy.3 + 10 1179 c.896G>T c.(895-897)gGa>gTa p.G299V NEDD4L_uc002lgz.3_Missense_Mutation_p.G299V|NEDD4L_uc002lgx.3_Missense_Mutation_p.G299V|NEDD4L_uc010xee.1_Missense_Mutation_p.G178V|NEDD4L_uc002lhc.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhd.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhb.2_Missense_Mutation_p.G178V|NEDD4L_uc002lhe.2_Missense_Mutation_p.G291V|NEDD4L_uc002lhf.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhg.3_Missense_Mutation_p.G178V|NEDD4L_uc002lhh.2_Missense_Mutation_p.G178V|NEDD4L_uc010dpm.1_Missense_Mutation_p.G150V NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA. 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 0 1 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 uc003ytw.3 + 4 531 c.490T>G c.(490-492)Tgt>Ggt p.C164G NM_003235 NP_003226 P01266 THYG_HUMAN Homo sapiens thyroglobulin (TG), mRNA. 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 1 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 uc003wkk.3 - 0 688 c.77C>T c.(76-78)gCc>gTc p.A26V PRKAG2_uc010lqe.1_Non-coding_Transcript|PRKAG2_uc003wkm.1_Missense_Mutation_p.A26V|LOC100505483_uc003wko.2_5'Flank NM_016203 NP_077747 Q9UGJ0 AAKG2_HUMAN Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA. 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 1 0 0 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 uc010efc.3 - 4 3337_3338 c.3178_3179delAC c.(3178-3180)actfs p.T1060fs ZNF850_uc010xtm.2_Frame_Shift_Del_p.T1026fs NM_001193552 NP_001180481 A8MQ14 ZN850_HUMAN Homo sapiens zinc finger protein 850 (ZNF850), mRNA. 1060 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding TTTCTCGCCAGTGTGAACACTC 0.421 2 4 --- --- --- ---