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 NRXN3 9369 broad.mit.edu 37 14 79746819 79746819 + Missense_Mutation SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr14:79746819G>A ENST00000281127.7 + 1 1064 c.185G>A c.(184-186)aGc>aAc p.S62N NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.S62N|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.S62N NM_138970.3 NP_620426.2 Q9HDB5 NRX3B_HUMAN neurexin 3 62 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TTCCATGGCAGCAAGCATCAC 0.507000 4 181 0 0 1 0 0 ASNS 440 broad.mit.edu 37 7 97488559 97488559 + Silent SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr7:97488559G>A ENST00000175506.4 - 6 1167 c.639C>T c.(637-639)caC>caT p.H213H ASNS_ENST00000422745.1_Silent_p.H192H|ASNS_ENST00000437628.1_Silent_p.H130H|ASNS_ENST00000394309.3_Silent_p.H213H|ASNS_ENST00000444334.1_Silent_p.H192H|ASNS_ENST00000455086.1_Silent_p.H130H|ASNS_ENST00000394308.3_Silent_p.H213H NM_183356.3 NP_899199.2 P08243 ASNS_HUMAN asparagine synthetase (glutamine-hydrolyzing) 213 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CATAGAGGGCGTGCAGGGGTA 0.433000 3 71 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16946434 16946434 + RNA SNP C C T rs367060 TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr1:16946434C>T ENST00000412962.1 - 0 1085 CTCAGCCTTCCGCCGGGCCAG 0.672000 4 32 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100189379 100189379 + Silent SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr10:100189379G>A ENST00000325103.6 - 10 1121 c.888C>T c.(886-888)ctC>ctT p.L296L HPS1_ENST00000338546.5_Silent_p.L296L|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.L296L NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 296 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) ACTCCTCAGGGAGGGAGAAGC 0.597000 Hermansky-Pudlak syndrome 12 45 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120568522 120568522 + Silent SNP G G C TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr12:120568522G>C ENST00000300648.6 - 56 7611 c.7599C>G c.(7597-7599)ggC>ggG p.G2533G NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2533 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCATGAGAAAGCCCATGCCCC 0.612000 23 95 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128193324 128193324 + Missense_Mutation SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr10:128193324G>A ENST00000284694.7 - 3 565 c.445C>T c.(445-447)Ccc>Tcc p.P149S C10orf90_ENST00000392694.1_Missense_Mutation_p.P102S|C10orf90_ENST00000356858.3_Missense_Mutation_p.P102S|C10orf90_ENST00000368674.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.P149S|C10orf90_ENST00000544758.1_Missense_Mutation_p.P246S NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 149 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) CGGGCTGGGGGGCCCACGCGT 0.697000 OREG0020616 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 70 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 48 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16918653 16918653 + Splice_Site SNP C C T TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr1:16918653C>T ENST00000430580.2 - 6 853 c.e6+1 NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) TCTTAACTTACTGTTGTGAAA 0.418000 4 38 0 0 1 0 0 HPS1 3257 broad.mit.edu 37 10 100189563 100189563 + Silent SNP C C T TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr10:100189563C>T ENST00000325103.6 - 9 1085 c.852G>A c.(850-852)ggG>ggA p.G284G HPS1_ENST00000338546.5_Silent_p.G284G|HPS1_ENST00000467246.1_Intron|HPS1_ENST00000361490.4_Silent_p.G284G NM_000195.3 NP_000186.2 Q92902 HPS1_HUMAN Hermansky-Pudlak syndrome 1 284 lysosome organization|response to stimulus|visual perception cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction protein dimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.234) Epithelial(162;3.87e-12)|all cancers(201;5.63e-10) CTGCAGAGCTCCCCCCAGTTG 0.692000 Hermansky-Pudlak syndrome 38 192 0 0 1 0 0 TRIM65 201292 broad.mit.edu 37 17 73887267 73887267 + Missense_Mutation SNP G G T TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr17:73887267G>T ENST00000269383.3 - 6 1212 c.1147C>A c.(1147-1149)Cac>Aac p.H383N NM_001256124.1|NM_173547.3 NP_001243053.1|NP_775818.2 Q6PJ69 TRI65_HUMAN tripartite motif containing 65 383 B30.2/SPRY. intracellular zinc ion binding p.H383N(2) endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154) CAGTAGTGGTGCCCGGCCTGG 0.672000 6 75 0.0293803 0.0293803 1 1 0 SLC6A16 28968 broad.mit.edu 37 19 49797224 49797224 + Missense_Mutation SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr19:49797224G>A ENST00000454748.3 - 9 1679 c.1478C>T c.(1477-1479)cCg>cTg p.P493L SLC6A16_ENST00000335875.4_Missense_Mutation_p.P493L Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 493 integral to membrane|intracellular neurotransmitter:sodium symporter activity NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) GAAGACAGACGGAGGAAGGAA 0.493000 3 138 0 0 1 0 0 CDC7 8317 broad.mit.edu 37 1 91967356 91967356 + Nonsense_Mutation SNP T T A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr1:91967356T>A ENST00000428239.1 + 2 342 c.83T>A c.(82-84)tTa>tAa p.L28* CDC7_ENST00000497611.1_3'UTR|CDC7_ENST00000430031.2_Nonsense_Mutation_p.L28*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L28* NM_001134420.1 NP_001127892.1 O00311 CDC7_HUMAN cell division cycle 7 28 cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase cytoplasm|nucleoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2) 23 all_lung(203;0.0165)|Lung NSC(277;0.0562) all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124) GAAGGCTCTTTAAAAAAAAAC 0.403000 3 77 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142231689 142231689 + Silent SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr8:142231689G>A ENST00000519067.1 - 2 567 c.264C>T c.(262-264)aaC>aaT p.N88N SLC45A4_ENST00000517878.1_Silent_p.N139N|SLC45A4_ENST00000024061.3_Silent_p.N88N|SLC45A4_ENST00000433583.2_Silent_p.N81N Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 139 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TGGCAGAGCCGTTAAGGAAAA 0.612000 3 44 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000447906.2_Silent_p.H962H|OTUD4_ENST00000455611.2_Intron NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 3 156 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 3 49 0 0 1 0 0 HR 55806 broad.mit.edu 37 8 21984718 21984718 + Missense_Mutation SNP T T C TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr8:21984718T>C ENST00000381418.4 - 3 2717 c.1237A>G c.(1237-1239)Agg>Ggg p.R413G HR_ENST00000312841.8_Missense_Mutation_p.R413G NM_005144.4 NP_005135.2 O43593 HAIR_HUMAN hair growth associated 413 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) CTGCCTGCCCTTTTGAGGGCC 0.662000 3 101 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55677164 55677164 + Missense_Mutation SNP T T C TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr19:55677164T>C ENST00000455045.1 - 1 51 c.52A>G c.(52-54)Att>Gtt p.I18V DNAAF3_ENST00000527223.2_Intron|DNAAF3_ENST00000524407.2_Intron|CTD-2587H24.5_ENST00000591665.1_RNA|DNAAF3_ENST00000391720.4_Intron Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 0 ggttttagaatttcaatccct 0.567000 2 6 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57115523 57115523 + Splice_Site SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr16:57115523G>A ENST00000436936.1 + 48 5778 c.e48+1 NLRC5_ENST00000308149.7_Splice_Site|NLRC5_ENST00000262510.6_Splice_Site|NLRC5_ENST00000539144.1_Splice_Site Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) AAGTCATCCGGTAACAGAGGC 0.627000 4 132 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5500727 5500727 + Missense_Mutation SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr4:5500727G>A ENST00000282908.5 + 12 1584 c.1162G>A c.(1162-1164)Gga>Aga p.G388R STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000510398.1_Missense_Mutation_p.G341R|STK32B_ENST00000512636.1_Missense_Mutation_p.G311R NM_018401.1 NP_060871.1 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 388 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 CAGCCGAGGGGGAGGCCAGGC 0.627000 3 55 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155317613 155317613 + Missense_Mutation SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr1:155317613G>A ENST00000368346.3 - 20 8291 c.7652C>T c.(7651-7653)tCa>tTa p.S2551L ASH1L_ENST00000392403.3_Missense_Mutation_p.S2546L Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2551 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AATCTGGGCTGATGCCTCATG 0.483000 3 150 0 0 1 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416149 57416149 + Silent SNP C C T TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr16:57416149C>T ENST00000565912.1 + 2 2991 c.285C>T c.(283-285)ggC>ggT p.G95G CX3CL1_ENST00000006053.6_Silent_p.G133G|CX3CL1_ENST00000564948.1_3'UTR|CX3CL1_ENST00000563383.1_Silent_p.G139G P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 133 Chemokine. cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 AAGCCACAGGCGAAAGCAGTA 0.667000 14 37 0 0 1 0 0 CSGALNACT2 55454 broad.mit.edu 37 10 43654238 43654238 + Missense_Mutation SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr10:43654238G>A ENST00000374466.3 + 3 1072 c.737G>A c.(736-738)aGa>aAa p.R246K CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.R246K NM_018590.3 NP_061060.3 Q8N6G5 CGAT2_HUMAN chondroitin sulfate N-acetylgalactosaminyltransferase 2 246 chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process Golgi cisterna membrane|integral to Golgi membrane glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 ACGGAATATAGACATGTGACC 0.393000 19 75 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155673 12155673 + Missense_Mutation SNP A A C TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr19:12155673A>C ENST00000602107.1 - 5 683 c.684T>G c.(682-684)agT>agG p.S228R ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron C9JN71 ZN878_HUMAN zinc finger protein 878 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 AACTGGGAAAACTGAATGCTT 0.403000 6 261 0 0 1 0 0 LINC00969 0 broad.mit.edu 37 3 195410640 195410640 + RNA SNP T T C rs6583273 by1000genomes TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr3:195410640T>C ENST00000445430.1 + 0 1837 TTGATGAGTATGATCACTCCA 0.468000 2 13 0 0 1 0 0 SIPA1L1 26037 broad.mit.edu 37 14 72055315 72055315 + Silent SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr14:72055315G>A ENST00000555818.1 + 2 1074 c.726G>A c.(724-726)aaG>aaA p.K242K SIPA1L1_ENST00000381232.3_Silent_p.K242K|SIPA1L1_ENST00000358550.2_Silent_p.K242K NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 242 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) CTCCAACCAAGCTCAGTGACT 0.423000 6 60 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38976750 38976750 + Missense_Mutation SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr19:38976750G>A ENST00000355481.4 + 34 5586 c.5455G>A c.(5455-5457)Gtg>Atg p.V1819M RYR1_ENST00000359596.3_Missense_Mutation_p.V1819M|RYR1_ENST00000360985.3_Missense_Mutation_p.V1819M NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 1819 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGGGGAGGCGGTGCGCGACGG 0.706000 3 116 0 0 1 0 0 PRKAA1 5562 broad.mit.edu 37 5 40767657 40767657 + Silent SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr5:40767657G>A ENST00000397128.2 - 6 740 c.732C>T c.(730-732)acC>acT p.T244T PRKAA1_ENST00000354209.3_Silent_p.T259T NM_006251.5|NM_206907.3 NP_006242.5|NP_996790.3 Q13131 AAPK1_HUMAN protein kinase, AMP-activated, alpha 1 catalytic subunit 244 Protein kinase. activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia cytosol ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding breast(1) 1 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914) AATATTGAGGGGTATAGAAGA 0.388000 4 82 0 0 1 0 0 HHEX 3087 broad.mit.edu 37 10 94452181 94452181 + Missense_Mutation SNP G G T TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr10:94452181G>T ENST00000282728.5 + 2 2217 c.418G>T c.(418-420)Ggc>Tgc p.G140C HHEX_ENST00000472590.2_5'UTR|HHEX_ENST00000492654.2_5'UTR NM_002729.4 NP_002720.1 Q03014 HHEX_HUMAN hematopoietically expressed homeobox 140 anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway cytoplasm|nucleus|protein-DNA complex DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(2)|lung(5)|ovary(1) 10 AAGGAAAGGCGGCCAGGTGAG 0.587000 20 59 1.96895e-08 2.13771e-08 1 1 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 31 0 0 1 0 0 FOXP2 93986 broad.mit.edu 37 7 114270000 114270000 + Silent SNP G G A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr7:114270000G>A ENST00000393500.3 + 11 1132 c.312G>A c.(310-312)caG>caA p.Q104Q FOXP2_ENST00000393498.2_Silent_p.Q159Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q O15409 FOXP2_HUMAN forkhead box P2 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding p.Q204Q(1) breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 agcaacaacagcagcagcagc 0.498000 3 44 0 0 1 0 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 4 6 --- --- --- --- ANKRD20A8P 0 broad.mit.edu 37 2 95513688 95513689 + RNA INS - - TA TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr2:95513688_95513689insTA ENST00000432432.2 - 0 850 NR_040113.1 CTCACCTAATGTATAAGATGGA 0.327 7 101 --- --- --- --- HMMR 3161 broad.mit.edu 37 5 162917425 162917426 + Frame_Shift_Ins INS - - A TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr5:162917425_162917426insA ENST00000416990.2 + 17 2144_2145 c.1647_1648insA c.(1645-1650)gcaaaafs p.AK549fs HMMR_ENST00000358715.3_Frame_Shift_Ins_p.AK663fs|RP11-80G7.1_ENST00000514724.2_RNA|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000432118.2_Frame_Shift_Ins_p.AK577fs|HMMR_ENST00000353866.3_Frame_Shift_Ins_p.AK648fs|HMMR_ENST00000393915.4_Frame_Shift_Ins_p.AK664fs O75330 HMMR_HUMAN hyaluronan-mediated motility receptor (RHAMM) 663 cell surface|cytoplasm hyaluronic acid binding cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 23 Renal(175;0.000281) Medulloblastoma(196;0.00853)|all_neural(177;0.0408) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848) GTCAGCTTGCTAAAAAAAAACA 0.307 9 65 --- --- --- --- ERICH1-AS1 0 broad.mit.edu 37 8 845007 845008 + RNA INS - - G TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr8:845007_845008insG ENST00000524139.1 + 0 151 ERICH1-AS1_ENST00000578889.1_RNA|ERICH1-AS1_ENST00000577187.1_RNA|ERICH1-AS1_ENST00000522092.1_RNA ggtggctggcagggcagggtgg 0.698 2 4 --- --- --- --- AE000661.37 0 broad.mit.edu 37 14 22933391 22933391 + RNA DEL C C - rs36090939 TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr14:22933391delC ENST00000514473.2 - 0 225 AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA TTAGAAATGGCTAAGAAACCA 0.408 4 3 --- --- --- --- C16orf71 146562 broad.mit.edu 37 16 4796953 4796955 + In_Frame_Del DEL GAG GAG - TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr16:4796953_4796955delGAG ENST00000299320.5 + 8 1685_1687 c.1207_1209delGAG c.(1207-1209)del p.E409del RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_In_Frame_Del_p.E426del NM_139170.2 NP_631909.2 Q8IYS4 CP071_HUMAN chromosome 16 open reading frame 71 409 p.E403delE(1) breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 CTCTGACAGTGAGGAGGAGGAGG 0.611 3 6 --- --- --- --- CTD-3037G24.3 0 broad.mit.edu 37 16 12681775 12681775 + RNA DEL T T - TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr16:12681775delT ENST00000564505.1 - 0 307 CCCTCCTGCCTTTTTTCTGGG 0.463 2 4 --- --- --- --- ROCK1P1 0 broad.mit.edu 37 18 112519 112520 + RNA INS - - A rs140158594 by1000genomes TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chr18:112519_112520insA ENST00000576266.1 + 0 153_154 CCAGCTCCCCCGGGGCCTCCGT 0.530 2 4 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-DJ-A3UV-01A-11D-A22D-08 TCGA-DJ-A3UV-10A-01D-A22D-08 Untested Somatic Phase_I WXS none Illumina GAIIx a0ff3818-b468-40b7-9f82-770f181a2760 e6c777eb-ece0-4023-a1b4-f6f8d0841a37 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 9 52 --- --- --- ---