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 PPP1R8 5511 broad.mit.edu 37 1 28159280 28159280 + Missense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:28159280C>A ENST00000311772.5 + 2 128 c.70C>A c.(70-72)Cct>Act p.P24T PPP1R8_ENST00000373931.4_5'UTR|PPP1R8_ENST00000236412.7_5'UTR NM_014110.4 NP_054829.2 Q12972 PP1R8_HUMAN protein phosphatase 1, regulatory subunit 8 24 Interaction with CDC5L, SF3B1 and MELK. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding breast(2)|cervix(1)|endometrium(2)|lung(2)|upper_aerodigestive_tract(1) 8 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) AGGTAAGCCCCCTCCCGGTTT 0.378 4 52 --- --- --- --- THRAP3 9967 broad.mit.edu 37 1 36755264 36755264 + Silent SNP G G T TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:36755264G>T ENST00000354618.5 + 5 1868 c.1644G>T c.(1642-1644)ctG>ctT p.L548L THRAP3_ENST00000469141.2_Silent_p.L548L NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 548 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GAGACAAGCTGGGAGCGAAAG 0.498 T USP6 aneurysmal bone cysts 5 141 --- --- --- --- RBM15 64783 broad.mit.edu 37 1 110882203 110882203 + Missense_Mutation SNP G G A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:110882203G>A ENST00000369784.3 + 1 1076 c.176G>A c.(175-177)cGt>cAt p.R59H RBM15_ENST00000602849.1_Missense_Mutation_p.R59H|RBM15_ENST00000487146.2_Missense_Mutation_p.R59H NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 59 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AAACGCTCCCGTGGTGGTGAG 0.647 T MKL1 acute megakaryocytic leukemia 4 59 --- --- --- --- INSRR 3645 broad.mit.edu 37 1 156819189 156819189 + Silent SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:156819189C>A ENST00000368195.3 - 6 1689 c.1293G>T c.(1291-1293)gcG>gcT p.A431A NTRK1_ENST00000392302.2_Intron NM_014215.2 NP_055030.1 P14616 INSRR_HUMAN insulin receptor-related receptor 431 protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 42 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) TGGTGAGCCCCGCGGCCACCC 0.622 4 155 --- --- --- --- CD1B 910 broad.mit.edu 37 1 158299162 158299162 + Missense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:158299162C>A ENST00000368168.3 - 4 991 c.884G>T c.(883-885)tGg>tTg p.W295L NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 295 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.W295L(1) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) TTTCTTACTCCAGTAGAGGAT 0.552 4 97 --- --- --- --- LY9 4063 broad.mit.edu 37 1 160769618 160769618 + Missense_Mutation SNP T T C TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr1:160769618T>C ENST00000368037.5 + 2 314 c.200T>C c.(199-201)cTa>cCa p.L67P LY9_ENST00000341032.4_Missense_Mutation_p.L67P|LY9_ENST00000263285.6_Missense_Mutation_p.L67P|LY9_ENST00000392203.4_Missense_Mutation_p.L67P|LY9_ENST00000368039.2_Missense_Mutation_p.L67P|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.L27P|LY9_ENST00000471816.1_3'UTR NM_001261456.1|NM_002348.3 NP_001248385.1|NP_002339.2 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) ACTCTCCCCCTAAACATCTCA 0.498 3 76 --- --- --- --- EPHA6 285220 broad.mit.edu 37 3 96533589 96533589 + Nonsense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr3:96533589C>A ENST00000389672.5 + 1 160 c.122C>A c.(121-123)tCg>tAg p.S41* EPHA6_ENST00000470610.2_Nonsense_Mutation_p.S41* NM_001080448.2 NP_001073917.2 Q9UF33 EPHA6_HUMAN EPH receptor A6 0 Ephrin-binding. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2) 101 CCCGGGACCTCGCGCAGGGGG 0.716 3 36 --- --- --- --- ADRB2 154 broad.mit.edu 37 5 148206902 148206902 + Missense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr5:148206902C>A ENST00000305988.4 + 1 747 c.508C>A c.(508-510)Cag>Aag p.Q170K NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 170 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) CTTGCCCATTCAGATGCACTG 0.527 6 162 --- --- --- --- AGTPBP1 23287 broad.mit.edu 37 9 88211351 88211351 + Silent SNP G G T TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr9:88211351G>T ENST00000357081.3 - 18 2493 c.2349C>A c.(2347-2349)ctC>ctA p.L783L AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000376109.3_Silent_p.L795L|AGTPBP1_ENST00000376083.3_Silent_p.L743L Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 783 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 CCGAATACATGAGTGGTTGCA 0.308 4 39 --- --- --- --- NTNG2 84628 broad.mit.edu 37 9 135073491 135073491 + Missense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr9:135073491C>A ENST00000393229.3 + 3 1128 c.352C>A c.(352-354)Ccg>Acg p.P118T NTNG2_ENST00000393228.4_Missense_Mutation_p.P118T|NTNG2_ENST00000360670.3_Missense_Mutation_p.P118T|NTNG2_ENST00000372179.3_Missense_Mutation_p.P118T NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 118 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) CTACCCCAGCCCGCTGGAAGC 0.647 4 78 --- --- --- --- CTNNA3 29119 broad.mit.edu 37 10 68526133 68526133 + Silent SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr10:68526133C>A ENST00000433211.2 - 9 1344 c.1170G>T c.(1168-1170)ctG>ctT p.L390L CTNNA3_ENST00000373744.4_Silent_p.L390L NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CTGTCGTATCCAGGAAAGAGT 0.398 4 107 --- --- --- --- PANK1 53354 broad.mit.edu 37 10 91404822 91404822 + Missense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr10:91404822C>A ENST00000307534.4 - 1 393 c.238G>T c.(238-240)Ggg>Tgg p.G80W NM_148977.2 NP_683878.1 Q8TE04 PANK1_HUMAN pantothenate kinase 1 80 coenzyme A biosynthetic process|pantothenate metabolic process cytosol|nucleus ATP binding|pantothenate kinase activity cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2) 11 Bezafibrate(DB01393) GCCGACTCCCCCACCTCCTCT 0.771 4 46 --- --- --- --- IQSEC3 440073 broad.mit.edu 37 12 247627 247627 + Silent SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr12:247627C>A ENST00000538872.1 + 4 1216 c.1098C>A c.(1096-1098)gcC>gcA p.A366A IQSEC3_ENST00000382841.2_Silent_p.A63A|RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000326261.4_Silent_p.A366A Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 366 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) GCCTGGCGGCCGAGAAAGCGC 0.692 3 18 --- --- --- --- CBLN3 643866 broad.mit.edu 37 14 24897522 24897522 + Silent SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr14:24897522C>A ENST00000267406.6 - 2 860 c.390G>T c.(388-390)gtG>gtT p.V130V CBLN3_ENST00000555436.1_Silent_p.V79V NM_001039771.2 NP_001034860.1 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 130 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). cell junction|extracellular region|synapse central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) ACACCTTCACCACATGGAACC 0.652 6 209 --- --- --- --- ZNF106 64397 broad.mit.edu 37 15 42740783 42740783 + Silent SNP G G T TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr15:42740783G>T ENST00000263805.4 - 3 2879 c.2553C>A c.(2551-2553)tcC>tcA p.S851S ZNF106_ENST00000565380.1_Silent_p.S79S|ZNF106_ENST00000565611.1_Silent_p.S36S NM_001284306.1|NM_001284307.1|NM_022473.1 NP_001271235.1|NP_001271236.1|NP_071918.1 zinc finger protein 106 CCAAGCCAGGGGACGAGGAAA 0.488 4 53 --- --- --- --- TMX3 54495 broad.mit.edu 37 18 66344377 66344377 + Silent SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr18:66344377C>A ENST00000299608.2 - 16 1474 c.1158G>T c.(1156-1158)ctG>ctT p.L386L NM_019022.3 NP_061895.3 Q96JJ7 TMX3_HUMAN thioredoxin-related transmembrane protein 3 386 cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 17 TGATGACACCCAGTGGCAGGC 0.413 4 96 --- --- --- --- GATAD2A 54815 broad.mit.edu 37 19 19616251 19616251 + Missense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr19:19616251C>A ENST00000404158.1 + 14 2291 c.1873C>A c.(1873-1875)Cgc>Agc p.R625S GATAD2A_ENST00000429563.2_Missense_Mutation_p.R427S|GATAD2A_ENST00000358713.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000252577.5_Missense_Mutation_p.R599S|GATAD2A_ENST00000360315.3_Missense_Mutation_p.R624S|GATAD2A_ENST00000537887.1_Missense_Mutation_p.R253S Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 624 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 GATCCCACCCCGCTCCATCCC 0.667 4 134 --- --- --- --- ZSCAN1 284312 broad.mit.edu 37 19 58551895 58551895 + Missense_Mutation SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr19:58551895C>A ENST00000282326.1 + 4 695 c.448C>A c.(448-450)Cag>Aag p.Q150K NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 150 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCCAAGGTCCCAGAAAGAACC 0.627 5 125 --- --- --- --- CYP2D7 1564 broad.mit.edu 37 22 42540342 42540342 + RNA SNP C C A TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chr22:42540342C>A ENST00000433992.1 - 0 234 CYP2D7P1_ENST00000358097.4_RNA endometrium(1) 1 TTGCCCAGCCCGGGCAGTGGC 0.642 3 20 --- --- --- --- GATA1 2623 broad.mit.edu 37 X 48650528 48650528 + Silent SNP T T C TCGA-HC-7079-01A-11D-1961-08 TCGA-HC-7079-10A-01D-1961-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f1ca00a-84ba-4b26-a1a5-4d83c363ac69 c359bee4-8d3a-4855-a6b6-1e09aefd2b2e g.chrX:48650528T>C ENST00000376670.3 + 3 609 c.498T>C c.(496-498)ccT>ccC p.P166P GATA1_ENST00000376665.3_Silent_p.P166P NM_002049.3 NP_002040.1 P15976 GATA1_HUMAN GATA binding protein 1 (globin transcription factor 1) 166 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 ATGGGGGCCCTGACTTTTCCA 0.582 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 3 50 --- --- --- ---