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 LPHN2 23266 broad.mit.edu 37 1 82409004 82409004 + Missense_Mutation SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr1:82409004A>G ENST00000370728.1 + 8 1394 c.749A>G c.(748-750)tAc>tGc p.Y250C LPHN2_ENST00000370721.1_Missense_Mutation_p.Y254C|LPHN2_ENST00000370725.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370715.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000271029.4_Missense_Mutation_p.Y250C|LPHN2_ENST00000359929.3_Missense_Mutation_p.Y250C|LPHN2_ENST00000370723.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370727.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370730.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000394879.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000370717.2_Missense_Mutation_p.Y250C|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.Y250C|LPHN2_ENST00000319517.6_Missense_Mutation_p.Y250C|LPHN2_ENST00000335786.5_Missense_Mutation_p.Y250C O95490 LPHN2_HUMAN latrophilin 2 250 Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding p.Y250C(2) NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 119 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TATGCCAACTACCATGATACC 0.403 30 130 --- --- --- --- NEK7 140609 broad.mit.edu 37 1 198233329 198233329 + Silent SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr1:198233329A>G ENST00000367385.4 + 5 678 c.336A>G c.(334-336)gaA>gaG p.E112E NEK7_ENST00000538004.1_Silent_p.E112E NM_133494.2 NP_598001.1 Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 112 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.E112E(1) endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 TAGTTTTGGAACTAGCAGATG 0.299 25 201 --- --- --- --- ATXN7 6314 broad.mit.edu 37 3 63898514 63898514 + Silent SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr3:63898514G>A ENST00000398590.3 + 3 793 c.240G>A c.(238-240)gaG>gaA p.E80E ATXN7_ENST00000295900.6_Silent_p.E80E|ATXN7_ENST00000538065.1_Silent_p.E80E|ATXN7_ENST00000487717.1_Silent_p.E80E NM_001177387.1 NP_001170858.1 O15265 ATX7_HUMAN ataxin 7 80 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding p.E80E(2) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3) 35 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CGGTCGGGGAGCGCAGGCCTC 0.711 6 29 --- --- --- --- ADAMTS9 56999 broad.mit.edu 37 3 64554181 64554181 + Nonsense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr3:64554181G>A ENST00000498707.1 - 29 4729 c.4387C>T c.(4387-4389)Caa>Taa p.Q1463* ADAMTS9-AS1_ENST00000474313.1_RNA|ADAMTS9-AS1_ENST00000470447.1_RNA|ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1435*|ADAMTS9-AS1_ENST00000493124.1_RNA|ADAMTS9-AS1_ENST00000492209.1_RNA|ADAMTS9-AS1_ENST00000594810.1_RNA NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1463 TSP type-1 11. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Q1463*(1) breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) ACATTTCGTTGTTTATGCCCT 0.428 32 153 --- --- --- --- ANXA6 309 broad.mit.edu 37 5 150509002 150509002 + Missense_Mutation SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr5:150509002G>T ENST00000354546.5 - 12 1111 c.884C>A c.(883-885)aCc>aAc p.T295N ANXA6_ENST00000521512.1_Missense_Mutation_p.T88N|ANXA6_ENST00000523714.1_Missense_Mutation_p.T263N|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.T295N NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 295 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTCATACTTGGTCCGGAAGAT 0.557 7 54 --- --- --- --- BTN2A3P 54718 broad.mit.edu 37 6 26428149 26428149 + RNA SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr6:26428149A>G ENST00000466808.2 + 0 1118 p.M253V(1) GCCTGTTATCATGATTATTCT 0.428 67 236 --- --- --- --- COL11A2 1302 broad.mit.edu 37 6 33138676 33138676 + Missense_Mutation SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr6:33138676C>T ENST00000341947.2 - 46 3612 c.3385G>A c.(3385-3387)Gga>Aga p.G1129R COL11A2_ENST00000374712.1_Missense_Mutation_p.G1048R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G1082R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1022R|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1103R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1043R|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1069R|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1108R NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1129 Triple-helical region. EPGARGP -> GAGGLGT (in Ref. 6; AAA52034). cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging p.G1129R(1) biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 CCCCGAGCTCCGGGCTCCCCA 0.577 8 141 --- --- --- --- TMEM246 84302 broad.mit.edu 37 9 104239189 104239189 + Missense_Mutation SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr9:104239189G>T ENST00000374851.1 - 4 1333 c.186C>A c.(184-186)agC>agA p.S62R TMEM246_ENST00000374848.3_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000450109.1_RNA|TMEM246_ENST00000374847.1_Missense_Mutation_p.S62R|RP11-490D19.6_ENST00000425734.1_RNA|RP11-490D19.6_ENST00000424154.1_RNA|RP11-490D19.6_ENST00000431507.1_RNA Q9BRR3 CI125_HUMAN transmembrane protein 246 62 integral to membrane p.S62R(2) GGAACTCTTGGCTCATTTGGT 0.547 30 91 --- --- --- --- C10orf68 79741 broad.mit.edu 37 10 32856778 32856778 + Translation_Start_Site SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr10:32856778G>A ENST00000375028.3 + 0 15 C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_De_novo_Start_InFrame|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460S|CCDC7_ENST00000362006.5_Missense_Mutation_p.G460S Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 p.G460S(1) breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 TTCAGATTCAGGTGGACAAAG 0.328 9 89 --- --- --- --- CCDC7 221016 broad.mit.edu 37 10 32856779 32856779 + Missense_Mutation SNP G G T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr10:32856779G>T ENST00000362006.5 + 16 1922 c.1379G>T c.(1378-1380)gGt>gTt p.G460V C10orf68_ENST00000572165.1_3'UTR|C10orf68_ENST00000375030.2_5'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.G460V|C10orf68_ENST00000375028.3_5'UTR NM_145023.4 NP_659460.3 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 460 p.G460V(1) NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2) 14 Breast(68;0.000207)|Prostate(175;0.0107) TCAGATTCAGGTGGACAAAGG 0.328 9 89 --- --- --- --- API5 8539 broad.mit.edu 37 11 43345105 43345105 + Silent SNP A A C TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr11:43345105A>C ENST00000378852.3 + 6 794 c.669A>C c.(667-669)ctA>ctC p.L223L API5_ENST00000420461.2_Silent_p.L169L|API5_ENST00000531273.1_Silent_p.L223L|API5_ENST00000455725.2_Silent_p.L212L|API5_ENST00000534600.1_Silent_p.L223L|API5_ENST00000534695.1_Intron NM_001142930.1|NM_006595.3 NP_001136402.1|NP_006586.1 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 223 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding p.L223L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1) 20 AGGCCGACCTAGAACAGACCT 0.463 34 158 --- --- --- --- SHANK2 22941 broad.mit.edu 37 11 70319095 70319095 + Missense_Mutation SNP T T C TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr11:70319095T>C ENST00000338508.4 - 33 5431 c.5432A>G c.(5431-5433)aAt>aGt p.N1811S SHANK2_ENST00000409161.1_Missense_Mutation_p.N1214S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N1431S|SHANK2_ENST00000449833.2_Missense_Mutation_p.N1215S Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1431 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding p.N1811S(1)|p.N1215S(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ATCGATCTCATTGTCCATGAA 0.478 55 245 --- --- --- --- CARD16 114769 broad.mit.edu 37 11 104915235 104915235 + Missense_Mutation SNP T T G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr11:104915235T>G ENST00000375706.2 - 2 175 c.158A>C c.(157-159)aAg>aCg p.K53T CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.K53T|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.K53T|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000593315.1_Intron NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 p.K53T(1) endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 AGCTCGGGTCTTATCCATAAC 0.428 96 447 --- --- --- --- ADAMTS20 80070 broad.mit.edu 37 12 43777766 43777766 + Silent SNP A A G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr12:43777766A>G ENST00000389420.3 - 30 4466 c.4467T>C c.(4465-4467)tgT>tgC p.C1489C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1489 TSP type-1 12. proteinaceous extracellular matrix zinc ion binding p.C1489C(2)|p.S1489S(1) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTCCAGAGCCACAGGTCACAG 0.413 4 56 --- --- --- --- TM9SF2 9375 broad.mit.edu 37 13 100206634 100206634 + Missense_Mutation SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr13:100206634C>T ENST00000376387.4 + 14 1755 c.1565C>T c.(1564-1566)cCt>cTt p.P522L NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 522 transport endosome membrane|integral to plasma membrane p.P522L(1) endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) AAGCCCTTGCCTGGTATTATC 0.418 43 154 --- --- --- --- TEKT1 83659 broad.mit.edu 37 17 6716186 6716186 + Missense_Mutation SNP C C G TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr17:6716186C>G ENST00000338694.2 - 6 945 c.816G>C c.(814-816)aaG>aaC p.K272N TEKT1_ENST00000535086.1_Missense_Mutation_p.K126N NM_053285.1 NP_444515.1 Q969V4 TEKT1_HUMAN tektin 1 272 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule p.K272N(1) NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1) 20 Myeloproliferative disorder(207;0.0255) CCCTGGCATCCTTTGTATCCT 0.527 32 158 --- --- --- --- DYRK1A 1859 broad.mit.edu 37 21 38858790 38858790 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr21:38858790G>A ENST00000339659.4 + 5 1981 c.511G>A c.(511-513)Gtg>Atg p.V171M DYRK1A_ENST00000398960.2_Missense_Mutation_p.V180M|DYRK1A_ENST00000321219.8_Missense_Mutation_p.V180M|DYRK1A_ENST00000338785.3_Missense_Mutation_p.V180M|DYRK1A_ENST00000451934.1_Missense_Mutation_p.V180M|DYRK1A_ENST00000398956.2_Missense_Mutation_p.V180M NM_130436.2 NP_569120.1 Q13627 DYR1A_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A Protein kinase. nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation nuclear speck ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity p.V180M(1) breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 ATATGATCGTGTGGAGCAAGA 0.308 36 167 --- --- --- --- MED12 9968 broad.mit.edu 37 X 70349258 70349258 + Missense_Mutation SNP C C T TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chrX:70349258C>T ENST00000333646.6 + 26 3869 c.3670C>T c.(3670-3672)Ctc>Ttc p.L1224F MED12_ENST00000374102.1_Missense_Mutation_p.L1224F|MED12_ENST00000374080.3_Missense_Mutation_p.L1224F NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1224 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.L1224F(10)|p.V1223>?(2)|p.L1224V(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GTTTGCTGTTCTCAAGGCTGT 0.562 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 34 --- --- --- --- ZCCHC12 170261 broad.mit.edu 37 X 117959282 117959282 + Missense_Mutation SNP G G A TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chrX:117959282G>A ENST00000310164.2 + 4 582 c.75G>A c.(73-75)atG>atA p.M25I NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 25 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding p.M25I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 CCCATTCCATGCTGAGGTCCC 0.572 25 46 --- --- --- --- GNPNAT1 64841 broad.mit.edu 37 14 53245162 53245163 + Frame_Shift_Del DEL AG AG - TCGA-EJ-5510-01A-01D-1576-08 TCGA-EJ-5510-10A-01D-1577-08 Untested Somatic Phase_I WXS none Illumina GAIIx c55ec8be-cd73-4275-8407-5814a1fc51d5 96d81c6a-b658-42f7-8102-6ff08f9ba464 g.chr14:53245162_53245163delAG ENST00000216410.3 - 6 608_609 c.421_422delCT c.(421-423)cttfs p.L141fs GNPNAT1_ENST00000554230.1_Frame_Shift_Del_p.L70fs NM_198066.3 NP_932332.1 Q96EK6 GNA1_HUMAN glucosamine-phosphate N-acetyltransferase 1 141 N-acetyltransferase. dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol|endosome membrane|Golgi membrane glucosamine 6-phosphate N-acetyltransferase activity liver(1)|lung(1)|prostate(1)|skin(1) 4 Breast(41;0.176) TAGCAAAGTAAGGGTTGATAAT 0.292 24 130 --- --- --- ---