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 GPR128 84873 broad.mit.edu 37 3 100362211 100362211 + Missense_Mutation SNP C C T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr3:100362211C>T ENST00000273352.3 + 7 1068 c.800C>T c.(799-801)gCg>gTg p.A267V GPR128_ENST00000475887.1_Intron NM_032787.2 NP_116176.2 Q96K78 GP128_HUMAN G protein-coupled receptor 128 267 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 56 TCAGAAAATGCGGTGGGGCCT 0.403000 4 130 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6202616 6202616 + Missense_Mutation SNP C C T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr1:6202616C>T ENST00000262450.3 - 14 2192 c.2093G>A c.(2092-2094)gGc>gAc p.G698D CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 698 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GTGCAGTGTGCCGCCTGTGGA 0.642000 4 54 0 0 1 0 0 DYRK2 8445 broad.mit.edu 37 12 68051587 68051587 + Silent SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr12:68051587G>A ENST00000344096.3 + 3 1313 c.900G>A c.(898-900)acG>acA p.T300T DYRK2_ENST00000393555.3_Silent_p.T227T NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 300 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) TCTGCATGACGTTTGAGCTGC 0.478000 4 159 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 92346010 92346010 + Silent SNP T T C TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr13:92346010T>C ENST00000377067.3 + 3 1267 c.895T>C c.(895-897)Ttg>Ctg p.L299L NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 299 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) TATCCGGTCGTTGGAAGAACT 0.502000 11 77 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130282279 130282279 + Silent SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr3:130282279G>A ENST00000358511.6 + 2 463 c.432G>A c.(430-432)gaG>gaA p.E144E COL6A6_ENST00000453409.2_Silent_p.E144E NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 144 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 CTGAGTCTGAGGATAATGTGG 0.498000 18 10 0 0 1 0 0 GON4L 54856 broad.mit.edu 37 1 155723052 155723052 + Nonsense_Mutation SNP C C A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr1:155723052C>A ENST00000437809.1 - 29 5907 c.5785G>T c.(5785-5787)Gag>Tag p.E1929* GON4L_ENST00000368331.1_Nonsense_Mutation_p.E1929*|GON4L_ENST00000271883.5_Nonsense_Mutation_p.E1929* Q3T8J9 GON4L_HUMAN gon-4-like (C. elegans) 1929 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 45 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) TGGGTGGCCTCAGTGCTCTCC 0.587000 11 60 3.07112e-06 3.07112e-06 1 1 0 KRTAP1-5 83895 broad.mit.edu 37 17 39183145 39183145 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:39183145A>G ENST00000361883.5 - 1 309 c.263T>C c.(262-264)aTc>aCc p.I88T NM_031957.1 NP_114163.1 Q9BYS1 KRA15_HUMAN keratin associated protein 1-5 88 15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP]. keratin filament p.I88T(11) central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 17 Breast(137;0.00043) STAD - Stomach adenocarcinoma(17;0.000371) GCAGGAGCTGATCTGGCAGCA 0.632000 4 50 0 0 1 0 0 ATP6V1G3 127124 broad.mit.edu 37 1 198498248 198498248 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr1:198498248A>G ENST00000367381.1 - 4 269 c.164T>C c.(163-165)aTg>aCg p.M55T ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.M49T|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.M55T Q96LB4 VATG3_HUMAN ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 49 cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1) 7 ATCTCTCTGCATTCTGTACTG 0.313000 4 34 0 0 1 0 0 SLC2A4 6517 broad.mit.edu 37 17 7189833 7189833 + Missense_Mutation SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:7189833G>A ENST00000317370.8 + 11 1683 c.1415G>A c.(1414-1416)cGa>cAa p.R472Q NM_001042.2 NP_001033.1 P14672 GTR4_HUMAN solute carrier family 2 (facilitated glucose transporter), member 4 472 carbohydrate metabolic process|glucose homeostasis|glucose import external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm D-glucose transmembrane transporter activity|protein binding breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 CCTGAAACTCGAGGCCGGACG 0.537000 5 293 0 0 1 0 0 MIF4GD 57409 broad.mit.edu 37 17 73266262 73266262 + Silent SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:73266262A>G ENST00000577542.1 - 2 277 c.15T>C c.(13-15)agT>agC p.S5S MIF4GD_ENST00000580571.1_Silent_p.S5S|MIF4GD_ENST00000245551.5_Silent_p.S5S|MIF4GD_ENST00000325102.8_Silent_p.S5S|MIF4GD_ENST00000579297.1_Silent_p.S5S|MIF4GD_ENST00000579119.1_Silent_p.S5S|MIF4GD_ENST00000578305.1_Silent_p.S5S A9UHW6 MI4GD_HUMAN MIF4G domain containing 5 MIF4G. regulation of translation|RNA metabolic process cytoplasm|nucleus protein C-terminus binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1) 10 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) ACTCCTCTCTACTGGGCTCCC 0.587000 4 220 0 0 1 0 0 ALDH7A1 501 broad.mit.edu 37 5 125903982 125903982 + Silent SNP T T C TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr5:125903982T>C ENST00000409134.3 - 9 1059 c.840A>G c.(838-840)aaA>aaG p.K280K ALDH7A1_ENST00000553117.1_Silent_p.K280K|ALDH7A1_ENST00000447989.2_Silent_p.K307K|ALDH7A1_ENST00000413020.1_5'UTR NM_001182.4|NM_001201377.1 NP_001173.2|NP_001188306.1 P49419 AL7A1_HUMAN aldehyde dehydrogenase 7 family, member A1 280 cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound cytosol|mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(142;0.24)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934) Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109) NADH(DB00157)|Pyridoxine(DB00165) GGCCCACCTGTTTTCCCACCT 0.488000 30 72 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19811698 19811698 + Silent SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr8:19811698A>G ENST00000311322.8 + 5 1079 c.609A>G c.(607-609)gcA>gcG p.A203A NM_000237.2 NP_000228.1 P06858 LIPL_HUMAN lipoprotein lipase 203 A -> T (in LPL deficiency; Bethesda; loss of activity and abnormal heparin binding). fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) CTGATGATGCAGATTTTGTAG 0.478000 11 76 0 0 1 0 0 ZNF776 284309 broad.mit.edu 37 19 58265270 58265270 + Missense_Mutation SNP C C T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr19:58265270C>T ENST00000317178.5 + 3 1035 c.772C>T c.(772-774)Cgc>Tgc p.R258C NM_173632.3 NP_775903.3 zinc finger protein 776 cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 31 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256) TCAGGGAGTTCGCACTGGAAA 0.423000 6 61 0 0 1 0 0 TUBA8 51807 broad.mit.edu 37 22 18609712 18609712 + Missense_Mutation SNP G G T rs151102020 by1000genomes TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr22:18609712G>T ENST00000330423.3 + 4 1040 c.967G>T c.(967-969)Gtg>Ttg p.V323L TUBA8_ENST00000316027.6_Missense_Mutation_p.V257L NM_018943.2 NP_061816.1 Q9NY65 TBA8_HUMAN tubulin, alpha 8 323 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 14 CCGGGGCGACGTGGTGCCCAA 0.557000 22 78 1.40151e-16 1.44984e-16 1 1 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 6 46 0 0 1 0 0 CENPB 1059 broad.mit.edu 37 20 3765453 3765453 + Missense_Mutation SNP A A T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr20:3765453A>T ENST00000379751.4 - 1 1884 c.1678T>A c.(1678-1680)Tcc>Acc p.S560T NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 560 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 ATGGGGAAGGAGGTCAGGTAC 0.562000 5 37 0 0 1 0 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240661 39240661 + Missense_Mutation SNP C C G rs11650484 by1000genomes TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:39240661C>G ENST00000391417.4 + 1 203 c.203C>G c.(202-204)aCc>aGc p.T68S NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 TGTCGCCCCACCTGCTGTGAG 0.657000 3 70 0 0 1 0 0 KDM4B 23030 broad.mit.edu 37 19 5144146 5144146 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr19:5144146A>G ENST00000159111.4 + 19 2937 c.2719A>G c.(2719-2721)Aag>Gag p.K907E KDM4B_ENST00000536461.1_Missense_Mutation_p.K941E NM_015015.2 NP_055830.1 O94953 KDM4B_HUMAN lysine (K)-specific demethylase 4B 907 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTCAAGCACAAGTCGGGGGG 0.711000 22 37 0 0 1 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057258 72057258 + Missense_Mutation SNP T T C TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr12:72057258T>C ENST00000378743.3 - 1 491 c.133A>G c.(133-135)Agc>Ggc p.S45G ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 45 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 CCGCCGCCGCTGCTGCTGCTG 0.637000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 132 0 0 1 0 0 JADE1 79960 broad.mit.edu 37 4 129778604 129778604 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr4:129778604A>G ENST00000226319.6 + 8 1256 c.976A>G c.(976-978)Ata>Gta p.I326V PHF17_ENST00000512960.1_Missense_Mutation_p.I326V|PHF17_ENST00000452328.2_Missense_Mutation_p.I314V|PHF17_ENST00000413543.2_Missense_Mutation_p.I326V|PHF17_ENST00000511647.1_Missense_Mutation_p.I326V NM_199320.2 NP_955352.1 Q6IE81 JADE1_HUMAN 326 apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent histone acetyltransferase complex|mitochondrion protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 TGGGGCCTCTATACAGGTAAT 0.537000 66 107 0 0 1 0 0 MLLT6 4302 broad.mit.edu 37 17 36871916 36871916 + Missense_Mutation SNP A A T TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr17:36871916A>T ENST00000325718.7 + 9 962 c.871A>T c.(871-873)Acc>Tcc p.T291S 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, 6 291 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) CACGCAGGAGACCTCTGAGAG 0.562000 T MLL AL 3 25 0 0 1 0 0 NOA1 84273 broad.mit.edu 37 4 57832876 57832876 + Silent SNP G G A TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr4:57832876G>A ENST00000264230.4 - 5 2911 c.1674C>T c.(1672-1674)gtC>gtT p.V558V NM_032313.2 NP_115689.1 Q8NC60 CD014_HUMAN nitric oxide associated 1 558 GTP binding TGGAAGCCACGACTGTAAACC 0.453000 26 41 0 0 1 0 0 ZNRD1-AS1 80862 broad.mit.edu 37 6 29977342 29977342 + RNA SNP A A T rs116382006 by1000genomes TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr6:29977342A>T ENST00000376797.3 - 0 731 HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA TGGGACTGAGAGGCAAGATTT 0.438000 4 52 0 0 1 0 0 CDC20B 166979 broad.mit.edu 37 5 54420759 54420759 + Missense_Mutation SNP A A G TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr5:54420759A>G ENST00000296733.1 - 9 1261 c.1087T>C c.(1087-1089)Tgg>Cgg p.W363R CDC20B_ENST00000322374.6_Missense_Mutation_p.W363R|CDC20B_ENST00000334206.5_3'UTR|CDC20B_ENST00000381375.2_Missense_Mutation_p.W363R NM_001170402.1|NM_152623.2 NP_001163873.1|NP_689836.2 Q86Y33 CD20B_HUMAN cell division cycle 20B 363 kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 19 Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194) LUSC - Lung squamous cell carcinoma(15;0.225) TCCGGTGACCACTTCAGAGCA 0.572000 6 114 0 0 1 0 0 MUC7 4589 broad.mit.edu 37 4 71346978 71346978 + Missense_Mutation SNP T T C TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr4:71346978T>C ENST00000413702.1 + 4 805 c.517T>C c.(517-519)Tct>Cct p.S173P MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR NM_001145006.1 NP_001138478.1 Q8TAX7 MUC7_HUMAN mucin 7, secreted 173 Thr-rich. extracellular region protein binding p.S173P(3) central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Lung(101;0.211) ACCCACACCTTCTGCAACTAC 0.522000 4 99 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-W2-A7H7-01A-11D-A35I-08 TCGA-W2-A7H7-10A-01D-A35G-08 Untested Somatic Phase_I WXS none Illumina GAIIx b59ab157-a667-49fc-a867-4f0a9f5a3df9 17d4339d-169d-4808-92ec-5e95778c4b99 g.chr22:42262949_42262951delGCA ENST00000361204.4 + 2 369_371 c.203_205delGCA c.(202-207)ggc>g p.GS68del NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 68 Gly/Pro/Ser-rich. cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 ggcagcagtggcagcagcagcag 0.567 7 118 --- --- --- ---