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 TIE1 7075 broad.mit.edu 37 1 43779588 43779588 + Silent SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:43779588C>T ENST00000372476.3 + 14 2437 c.2358C>T c.(2356-2358)atC>atT p.I786I TIE1_ENST00000433781.2_Silent_p.I431I|TIE1_ENST00000473014.1_3'UTR NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 786 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TGGTGTGCATCCGCAGAAGCT 0.632 13 35 --- --- --- --- B4GALT2 8704 broad.mit.edu 37 1 44446882 44446882 + Missense_Mutation SNP T T A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:44446882T>A ENST00000356836.6 + 2 840 c.50T>A c.(49-51)cTc>cAc p.L17H B4GALT2_ENST00000309519.7_Missense_Mutation_p.L46H|B4GALT2_ENST00000434555.2_5'UTR|B4GALT2_ENST00000372324.1_Missense_Mutation_p.L17H NM_001005417.2|NM_030587.2 NP_001005417.1|NP_085076.2 O60909 B4GT2_HUMAN UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 17 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) N-Acetyl-D-glucosamine(DB00141) AAGGCTGTGCTCCTTCTCTGC 0.682 15 39 --- --- --- --- GATAD2B 57459 broad.mit.edu 37 1 153790536 153790536 + Nonsense_Mutation SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:153790536G>A ENST00000368655.4 - 5 952 c.709C>T c.(709-711)Caa>Taa p.Q237* NM_020699.2 NP_065750.1 Q8WXI9 P66B_HUMAN GATA zinc finger domain containing 2B 237 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 38 all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CTCAAATTTTGAGGTTCAACC 0.493 45 149 --- --- --- --- HDGF 3068 broad.mit.edu 37 1 156714094 156714094 + Missense_Mutation SNP T T C TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:156714094T>C ENST00000357325.5 - 4 664 c.350A>G c.(349-351)gAa>gGa p.E117G HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000416666.2_Missense_Mutation_p.E85G|HDGF_ENST00000368206.5_Missense_Mutation_p.E133G|HDGF_ENST00000368209.5_Missense_Mutation_p.E110G|HDGF_ENST00000537739.1_Missense_Mutation_p.E117G NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 117 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) CTCTGCAGCTTCGGGCTCTGG 0.592 25 372 --- --- --- --- BRINP3 339479 broad.mit.edu 37 1 190067681 190067681 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr1:190067681C>T ENST00000367462.3 - 8 1999 c.1768G>A c.(1768-1770)Gaa>Aaa p.E590K BRINP3_ENST00000534846.1_Missense_Mutation_p.E488K NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 590 AAGCTGTTTTCATTCACAGGC 0.458 41 130 --- --- --- --- MED12L 116931 broad.mit.edu 37 3 151075043 151075043 + Missense_Mutation SNP A A C TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr3:151075043A>C ENST00000474524.1 + 18 2637 c.2599A>C c.(2599-2601)Aaa>Caa p.K867Q P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000491549.1_3'UTR|MED12L_ENST00000273432.4_Missense_Mutation_p.K727Q NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 867 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ACTGCTCCTAAAATCCTCCAG 0.423 14 71 --- --- --- --- CEP135 9662 broad.mit.edu 37 4 56886920 56886920 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr4:56886920G>A ENST00000257287.4 + 24 3418 c.3294G>A c.(3292-3294)agG>agA p.R1098R NM_025009.4 NP_079285.2 Q66GS9 CP135_HUMAN centrosomal protein 135kDa 1098 centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 50 Glioma(25;0.08)|all_neural(26;0.101) CTCTGAAAAGGCAGATCTCAA 0.323 14 123 --- --- --- --- KIAA1430 57587 broad.mit.edu 37 4 186111652 186111652 + Silent SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr4:186111652C>T ENST00000458385.2 - 2 818 c.699G>A c.(697-699)caG>caA p.Q233Q KIAA1430_ENST00000514798.1_Silent_p.Q233Q|KIAA1430_ENST00000296775.6_Silent_p.Q233Q NM_020827.1 NP_065878.1 Q9P2B7 K1430_HUMAN KIAA1430 233 Ser-rich. endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1) 11 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) TACTTGAAGGCTGTGTTTCTG 0.428 4 39 --- --- --- --- TBXAS1 6916 broad.mit.edu 37 7 139572059 139572059 + Missense_Mutation SNP C C A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr7:139572059C>A ENST00000263552.6 + 6 656 c.118C>A c.(118-120)Ctg>Atg p.L40M TBXAS1_ENST00000336425.5_Missense_Mutation_p.L39M|TBXAS1_ENST00000455353.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000411653.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000448866.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000414508.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000462275.1_Intron|TBXAS1_ENST00000539806.1_Missense_Mutation_p.L40M|TBXAS1_ENST00000436047.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000458722.1_Missense_Mutation_p.L39M|TBXAS1_ENST00000416849.2_Missense_Mutation_p.L40M|TBXAS1_ENST00000425687.1_5'UTR NM_001130966.2 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1 (platelet) 39 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) ATTCTCAAGACTGGAGAAGTT 0.443 39 161 --- --- --- --- GTPBP4 23560 broad.mit.edu 37 10 1044996 1044996 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr10:1044996G>A ENST00000360803.4 + 6 697 c.615G>A c.(613-615)ctG>ctA p.L205L GTPBP4_ENST00000538293.1_Silent_p.L89L|GTPBP4_ENST00000545048.1_Silent_p.L158L|GTPBP4_ENST00000491635.1_3'UTR NM_012341.2 NP_036473.2 Q9BZE4 NOG1_HUMAN GTP binding protein 4 205 negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) CCAAGTCTCTGTTTGTTGGGC 0.413 11 26 --- --- --- --- ANK3 288 broad.mit.edu 37 10 61830119 61830119 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr10:61830119C>T ENST00000280772.2 - 37 10711 c.10520G>A c.(10519-10521)gGc>gAc p.G3507D ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.G3507V(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AGGATGTCTGCCTTCCAGTGT 0.428 21 97 --- --- --- --- CCDC87 55231 broad.mit.edu 37 11 66359398 66359398 + Missense_Mutation SNP C C G rs142496256 TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr11:66359398C>G ENST00000333861.3 - 1 1156 c.1089G>C c.(1087-1089)aaG>aaC p.K363N NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 363 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CCAACTTCATCTTCTTTATCA 0.597 7 33 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 13717134 13717134 + Missense_Mutation SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:13717134G>A ENST00000609686.1 - 13 3247 c.3038C>T c.(3037-3039)aCc>aTc p.T1013I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCTGGACTGGGTGGTGAAGGG 0.577 14 29 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56482346 56482346 + Missense_Mutation SNP A A T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr12:56482346A>T ENST00000267101.3 + 8 1334 c.894A>T c.(892-894)caA>caT p.Q298H ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.Q239H NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 298 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) TGGTGGATCAAACATCCTGTG 0.507 19 156 --- --- --- --- TUBGCP4 27229 broad.mit.edu 37 15 43696671 43696671 + Missense_Mutation SNP A A G TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr15:43696671A>G ENST00000564079.1 + 17 2149 c.1909A>G c.(1909-1911)Atc>Gtc p.I637V TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.I638V NM_014444.2 NP_055259.2 Q9UGJ1 GCP4_HUMAN tubulin, gamma complex associated protein 4 638 G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole structural constituent of cytoskeleton breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2) 21 all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;3.53e-07) GAATCATCAGATCAACTCAGA 0.478 3 51 --- --- --- --- KRT9 3857 broad.mit.edu 37 17 39724878 39724878 + Missense_Mutation SNP T T C TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr17:39724878T>C ENST00000246662.4 - 5 1117 c.1052A>G c.(1051-1053)cAg>cGg p.Q351R KRT9_ENST00000588431.1_Missense_Mutation_p.Q118R NM_000226.3 NP_000217.2 P35527 K1C9_HUMAN keratin 9 351 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) ATGCTCGATCTGGGTTATCTG 0.557 62 182 --- --- --- --- ZNF285 26974 broad.mit.edu 37 19 44891645 44891645 + Silent SNP G G A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chr19:44891645G>A ENST00000330997.4 - 4 826 c.762C>T c.(760-762)caC>caT p.H254H ZNF285_ENST00000591679.1_Silent_p.H261H|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Silent_p.H254H NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 TTTCTCCTAGGTGAGTGCTGT 0.433 9 114 --- --- --- --- ZNF182 7569 broad.mit.edu 37 X 47836948 47836948 + Missense_Mutation SNP C C T TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chrX:47836948C>T ENST00000396965.1 - 7 888 c.538G>A c.(538-540)Gaa>Aaa p.E180K ZNF182_ENST00000305127.6_Missense_Mutation_p.E180K|ZNF182_ENST00000376943.3_Missense_Mutation_p.E161K NM_001178099.1 NP_001171570.1 P17025 ZN182_HUMAN zinc finger protein 182 180 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1) 22 TATTTATTTTCTGCAGAACTT 0.333 15 15 --- --- --- --- IGSF1 3547 broad.mit.edu 37 X 130419246 130419246 + Nonsense_Mutation SNP C C A TCGA-2A-A8VO-01A-11D-A377-08 TCGA-2A-A8VO-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx ea3d3e0f-ff85-4f89-99b5-375033ec614a 10813632-d72a-449d-a4a1-0d0811d48ec5 g.chrX:130419246C>A ENST00000370904.1 - 11 1457 c.547G>T c.(547-549)Gag>Tag p.E183* IGSF1_ENST00000370901.4_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370900.1_Nonsense_Mutation_p.E192*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.E183* Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 192 Ig-like C2-type 2. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 CCTTCATCCTCAGGTGTCAGG 0.517 28 36 --- --- --- ---