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{"sheet":"S4_Somatic_mutations","index":0,"n_rows":4757,"n_cols":45,"rows_kept":2250,"cut":true,"hidden":false,"merged":[],"bounds":{"rows_first":1000,"rows_last":250,"rows_between":1000,"halvings":1}}
["Supplementary Data 4: Somatic mutations"]
[]
["Dictionary"]
["Sample_ID","Samples Ids used in the manuscript"]
["Histopathology","Categorical variable indicating the tumor classification defined by  histopathology : Atypical, Typical, LCNEC, LCNEC combined SCLC, LCNEC combined ADC,LCNEC combined SqCC, SCLC, Carcinoid"]
["Cluster_LNET","Cluster membership of the LNET samples. Clusters were defined based on the MOFA analysis using only the LNET samples"]
["Cluster_LNEN","Cluster membership of the LNEN samples. Clusters were defined based on the MOFA analysis using the LNEN samples"]
["WES","Categorical variable indicating the whole exome sequencing of the sample. Values: Yes for samples sequenced and NA for samples not sequenced at the exome level"]
["WGS","Categorical variable indicating the whole genome sequencing of the sample. Values: Yes for samples sequenced and NA for samples not sequenced at the genome level"]
["RNAseq","Categorical variable indicating the RNA sequencing of the sample. Values: Yes for samples sequenced and NA for samples not sequenced at the transcriptome level"]
["850K","Categorical variable indicating the methylation analysis performed, Values: Yes for samples analysed at the methylome level with Epic 850K arrays and NA for samples not analysed "]
["Gene Symbol","Gene HUGO symbol"]
["Chromosome","Chromosome number where the mutation is found"]
["Start (hg19)","Position of the 1st mutated nucleotide (based on the genome reference hg19)"]
["End (hg19)","Position of the last mutated nucleotide (based on the genome reference hg19)"]
["Transcript","Transcript NCBI Id"]
["Wild_Type","Wild type nucleotide sequence from reference genome hg19"]
["Mutant","The mutated nucleotide sequence relative to reference genome hg19"]
["Type_1","The predicted effect of the mutation according to the databases refGene or knownGene (Frameshift deletion, Frameshift insertion, Nonframeshift deletion, Nonframeshift insertion, Nonsynonymous SNV, Stopgain, Stoploss, and splicing). "]
["Type_2","Summary of the predictive effect of the mutation. Values: DEL (deletion), DNM (dinucleotide mutation), INS (insertion), and SNM (single nucleotide mutation)"]
["SIFT","SIFT prediction of the mutation’s protein impact (mutations that had potentially damaging effects) based on the SIFT score. Values: D for a deleterious mutation (sift<=0.05), T for a tolerated mutation (sift>0.05), and NA for a mutation without information on the protein impact (no SIFT score)"]
["Polyphen2_HDIV","Polyphen2  prediction of the mutation’s protein impact (mutations that had potentially damaging effects) based on the ljb2_pp2hdiv score. Values: D for probably damaging mutation (pp2_hdiv>=0.957), P for possibly damaging mutation (0.453<=pp2_hdiv<=0.956), B for benign mutation (pp2_hdiv<=0.452), and NA for a mutation without information on the protein impact (no pp2_hdiv score)"]
["Polyphen2_HVAR","Polyphen2  prediction of the mutation’s protein impact (mutations that had potentially damaging effects) based on the ljb2_pp2hvar score. Values: D for probably damaging mutation (pp2_hvar>=0.909), P for possibly damaging mutation (0.447<=pp2_hvar<=0.909), B for benign mutation (pp2_hvar<=0.446), and NA for a mutation without information on the protein impact (no pp2_hvar score)"]
["Change_cDNA","Impact of the nucleotide change on the gene coding sequence"]
["Change_Protein","Impact of the amino acide change on the gene protein sequence"]
["Interpro_domain","Information on the protein domain affected by the mutation"]
["AF_Tumor_WES","Numerical value of the allelic fraction found in the whole exome sequencing for the tumor DNA sequenced"]
["DP_Tumor_WES","Numerical value of the coverage found in the whole exome sequencing for the tumor DNA sequenced"]
["AF_Normal_WES","Numerical value of the allelic fraction found in the whole exome sequencing for the matched-normal DNA sequenced"]
["DP_Normal_WES","Numerical value of the coverage found in the whole exome sequencing for the matched-normal DNA sequenced"]
["AF_Tumor_WGS","Numerical value of the allelic fraction found in the whole genome sequencing for the tumor DNA sequenced"]
["DP_Tumor_WGS","Numerical value of the coverage found in the whole genome sequencing for the tumor DNA sequenced"]
["AF_Normal_WGS","Numerical value of the allelic fraction found in the whole genome sequencing for the matched-normal DNA sequenced"]
["DP_Normal_WGS","Numerical value of the coverage found in the whole genome sequencing for the matched-normal DNA sequenced"]
["AF_Tumor_Validation","Numerical value of the allelic fraction found in the targeted sequencing (validation step) for the tumor DNA sequenced"]
["DP_Tumor_Validation","Numerical value of the coverage found in the targeted sequencing (validation step) for the tumor DNA sequenced"]
["AF_Normal_Validation","Numerical value of the allelic fraction found in the targeted sequencing (validation step) for the matched-normal DNA sequenced"]
["DP_Normal_Validation","Numerical value of the coverage found in the targeted sequencing (validation step) for the matched-normal DNA sequenced"]
["Mutation_Status","Categorical variable indicating the somatic/germline status of the mutation. Values: SOMATIC (mutation only found in the tumor DNA and validated buy targeted sequencing)"]
["Validation_Method","Categorical variable indicating the validation method used to confirm the mutation somaticness. Values: Targeted_seq (mutation validated by target sequencing), RNAseq (mutation validated by RNA-seq), Targeted_seq & RNAseq (mutation validated by both RNA-seq and targeted sequencing), Sanger (mutation validated by Sanger squencing), Manual_Inspection: (data from previous papers cf WES/WGS_source column in table S1_Sample_overview), and NA (mutation not tested for validation, data from previous papers cf WES/WGS_source column in table S1_Sample_overview)"]
["Transcript_FPKM","Numerical value of the Fragments Per Kilobase Million (FPKM) for the transcript associated with the mutation (cf transcript column)"]
["Mean_FPKM_PCA","Numerical value of the mean Fragments Per Kilobase Million (FPKM) for the transcript associated with the mutation (cf transcript column), across all pulmonary carcinoid samples with RNA-seq data available "]
["Median_FPKM_PCA","Numerical value of the median Fragments Per Kilobase Million (FPKM) for the transcript associated with the mutation (cf transcript column), accross all pulmonary carcinoids samples with RNA-seq data available"]
["Quantile90_FPKM_PCA","Numerical value of the 90% quantile of Fragments Per Kilobase Million (FPKM) for the transcript associated with the mutation (cf transcript column), accross all pulmonary carcinoids samples with RNA-seq data available"]
["Full name","Gene full name based on NCBI database"]
["Alias","Gene alias based on NCBI database"]
["gene_summary","Gene summary based on NCBI database"]
["interesting_complex","Categorical variable indicating the gene SWI/SNF, Polycomb complex, or chromatin remodeling gene membership. Values: Demeth (demethylation) / Meth (methylation) for the chromatin remodeling genes; Polycomb for polycomb complex, SWI.SNF for the SWI/SNF complex, and NA when the gene is not a member of these genes complex."]
[]
[]
["Sample_ID","Histopathology","Cluster_LNET","Cluster_LNEN","WES","WGS","RNAseq","850K","Gene Symbol","Chromosome","Start (hg19)","End (hg19)","Transcript","Wild_Type","Mutant","Type_1","Type_2","SIFT","Polyphen2_HDIV","Polyphen2_HVAR","Change_cDNA","Change_Protein","Interpro_domain","AF_Tumor_WES","DP_Tumor_WES","AF_Normal_WES","DP_Normal_WES","AF_Tumor_WGS","DP_Tumor_WGS","AF_Normal_WGS","DP_Normal_WGS","AF_Tumor_Validation","DP_Tumor_Validation","AF_Normal_Validation","DP_Normal_Validation","Mutation_Status","Validation_Method","Transcript_FPKM","Mean_FPKM_PCA","Median_FPKM_PCA","Quantile90_FPKM_PCA","Full name","Alias","gene_summary","interesting_complex"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","MCOLN3","chr1",85499811,85499811,"NM_001253693","T","C","nonsynonymous SNV","SNM","D","P","B","c.A352G","p.T118A;MCOLN3","NA",0.3300971,103,"NA","NA","NA","NA","NA","NA",0.2442997,307,"NA",306,"SOMATIC","Targeted_seq & RNAseq","NM_018298",7.339688977,4.2312275,18.614907,"mucolipin 3","6720490O21Rik, TRPML3, Va",null,"NA"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","SIPA1L2","chr1",232538143,232538143,"NM_020808","G","A","nonsynonymous SNV","SNM","D","D","B","c.C5017T","p.R1673W","Rap GTPase activating protein domain",0.4298246,114,"NA","NA","NA","NA","NA","NA",0.4835526,304,"NA",302,"SOMATIC","Targeted_seq & RNAseq","NM_020808",4.345744466,2.013714,11.1578738,"signal induced proliferation associated 1 like 2","SPAL2","This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]","NA"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","ZAK","chr2",174068563,174068563,"NM_016653","G","C","nonsynonymous SNV","SNM","T","B","B","c.G709C","p.E237Q;ZAK","Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain",0.2777778,54,"NA","NA","NA","NA","NA","NA",0.4293905,3314,"NA",513,"SOMATIC","Targeted_seq","NA","NA","NA","NA","sterile alpha motif and leucine zipper containing kinase AZK","si:dkey-15i8.3",null,"NA"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","DNAH5","chr5",13817702,13817702,"NM_001369","C","A","nonsynonymous SNV","SNM","D","D","D","c.G6943T","p.G2315W","AAA+ ATPase domain|ATPase, dynein-related, AAA domain|P-loop containing nucleoside triphosphate hydrolase",0.304878,82,"NA","NA","NA","NA","NA","NA",0.3158661,687,"NA",549,"SOMATIC","Targeted_seq","NM_001369",0.905939045,0.6733465,1.8686313,"dynein axonemal heavy chain 5","CILD3, DNAHC5, HL1, KTGNR, PCD","This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]","NA"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","CDH6","chr5",31294203,31294203,"NM_004932","A","C","nonsynonymous SNV","SNM","D","D","D","c.A363C","p.K121N","Cadherin|Cadherin-like",0.06818182,176,"NA","NA","NA","NA","NA","NA",0.1035088,570,"NA",693,"SOMATIC","Targeted_seq","NM_004932",3.017877614,1.8739435,6.4675321,"cadherin 6","cad6","This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein exhibit delay in mesenchyme-to-epithelial conversion and a loss of nephrons. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015]","NA"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","ZFYVE26","chr14",68236345,68236345,"NM_015346","C","T","nonsynonymous SNV","SNM","D","D","D","c.G5587A","p.V1863M","FYVE zinc finger|Zinc finger, FYVE-related|Zinc finger, FYVE/PHD-type|Zinc finger, RING/FYVE/PHD-type",0.05,160,"NA","NA","NA","NA","NA","NA",0.03916084,1430,"NA",1041,"SOMATIC","Targeted_seq","NM_015346",3.046838182,3.029254,4.5348263,"zinc finger FYVE-type containing 26","FYVE-CENT, SPG15","This gene encodes a protein which contains a FYVE zinc finger binding domain. The presence of this domain is thought to target these proteins to membrane lipids through interaction with phospholipids in the membrane. Mutations in this gene are associated with autosomal recessive spastic paraplegia-15. [provided by RefSeq, Oct 2008]","NA"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","SLC38A10","chr17",79225014,79225074,"NM_138570","TTTAAAGGGGAGCAAGGGAGATAAAACGGTAATCACAAGCCATGTGACGATGCCGCAGGTG","-","frameshift deletion","DEL","NA","NA","NA","c.2284_2761del","p.H762fs","NA",0.2037037,54,"NA","NA","NA","NA","NA","NA",0.01725446,5274,"NA",1043,"SOMATIC","Targeted_seq","NM_001037984",36.82775523,31.6302975,59.628856,"solute carrier family 38, member 10","1810073N04Rik",null,"NA"]
["LNEN006","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","DCAF12L1","chrX",125685243,125685243,"NM_178470","A","T","nonsynonymous SNV","SNM","D","D","D","c.T1349A","p.L450H","NA",0.3881279,219,"NA","NA","NA","NA","NA","NA",0.4136538,15600,"NA",1432,"SOMATIC","Targeted_seq","NM_178470",0.154106261,0,0.2404098,"DDB1 and CUL4 associated factor 12-like 1","9330180J20, A230038L21Rik, Decaf12l1, Wdr40b",null,"NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ARID1A","chr1",27100389,27100389,"NM_006015","G","C","nonsynonymous SNV","SNM","T","B","B","c.G4101C","p.Q1367H;ARID1A","NA",0.8676923,325,"NA","NA","NA","NA","NA","NA",0.9102564,780,"NA",1042,"SOMATIC","Targeted_seq & RNAseq","NM_006015",10.4423938,10.361501,18.3203589,"AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SELP","chr1",169565374,169565374,"NA","T","A","splicing","SNM","NA","NA","NA","NA","NA","NA",0.3556851,343,"NA","NA","NA","NA","NA","NA",0.3921423,1349,"NA",1640,"SOMATIC","Targeted_seq","NM_003005",1.164357375,0.852916,2.6318209,"selectin P","CD62, CD62P, GMP140, GRMP, LECAM3, PADGEM, PSEL","This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","IFT122","chr3",129183587,129183587,"NM_052990","C","G","nonsynonymous SNV","SNM","T","B","B","c.C370G","p.L124V;IFT122","WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain",0.4637681,276,"NA","NA","NA","NA","NA","NA",0.4315353,482,"NA",428,"SOMATIC","Targeted_seq & RNAseq","NM_018262",7.212705398,6.590199,13.5210845,"intraflagellar transport 122","CED, CED1, SPG, WDR10, WDR10p, WDR140","This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Mutations in this gene cause cranioectodermal dysplasia-1. A related pseudogene is located on chromosome 3. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","KCNMB3","chr3",178968599,178968599,"NM_171830","G","-","frameshift deletion","DEL","NA","NA","NA","c.180delC","p.A60fs;KCNMB3","NA",0.3904382,251,"NA","NA","NA","NA","NA","NA",0.415041,3537,"NA",4374,"SOMATIC","Targeted_seq & RNAseq","NR_028135",0.693099602,0.675426,1.0209389,"potassium calcium-activated channel subfamily M regulatory beta subunit 3","BKBETA3, HBETA3, K(VCA)BETA-3, KCNMB2, KCNMBL, SLO-BETA-3, SLOBETA3","MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the modulatory beta subunit. The protein encoded by this gene is an auxiliary beta subunit which may partially inactivate or slightly decrease the activation time of MaxiK alpha subunit currents. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 22. [provided by RefSeq, Jul 2009]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ACOT12","chr5",80626760,80626760,"NA","C","T","splicing","SNM","NA","NA","NA","NA","NA","NA",0.3985507,138,"NA","NA","NA","NA","NA","NA",0.4440299,268,"NA",433,"SOMATIC","Targeted_seq","NM_130767",0.441132534,0.026937,0.6955215,"acyl-CoA thioesterase 12","CACH-1, Cach, STARD15, THEAL",null,"NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","PDE1C","chr7",31877497,31877497,"NM_001191056","G","A","stopgain","SNM","NA","NA","NA","c.C1069T","p.Q357X;PDE1C","-cyclic nucleotide phosphodiesterase, catalytic domain|3&apos;-cyclic nucleotide phosphodiesterase, catalytic domain|HD/PDEase domain;3&apos;5&apos",0.4554974,191,"NA","NA","NA","NA","NA","NA",0.4008097,494,"NA",1101,"SOMATIC","Targeted_seq","NM_001191056",0.45704683,0.0641945,1.0578196,"phosphodiesterase 1C","Hcam3, cam-PDE 1C, hCam-3","This gene encodes an enzyme that belongs to the 3'5'-cyclic nucleotide phosphodiesterase family. Members of this family catalyze hydrolysis of the cyclic nucleotides, cyclic adenosine monophosphate and cyclic guanosine monophosphate, to the corresponding nucleoside 5'-monophosphates. The enzyme encoded by this gene regulates proliferation and migration of vascular smooth muscle cells, and neointimal hyperplasia. This enzyme also plays a role in pathological vascular remodeling by regulating the stability of growth factor receptors, such as PDGF-receptor-beta. [provided by RefSeq, Jul 2016]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MEN1","chr11",64572581,64572603,"NM_000244","CTCCTCCCATTTGCAGATGCCGT","-","frameshift deletion","DEL","NA","NA","NA","c.1268_1290del","p.D423fs;MEN1","NA",0.587963,216,"NA","NA","NA","NA","NA","NA",0.1279762,336,"NA",0,"SOMATIC","Targeted_seq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MEN1","chr11",64572606,64572606,"NM_000244","T","G","nonsynonymous SNV","SNM","D","D","D","c.A1265C","p.Y422S;MEN1","NA",0.2040816,98,"NA","NA","NA","NA","NA","NA","NA",216,"NA",0,"SOMATIC","Targeted_seq & RNAseq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MEN1","chr11",64572609,64572609,"NM_000244","A","G","nonsynonymous SNV","SNM","D","D","D","c.T1262C","p.F421S;MEN1","NA",0.2040816,98,"NA","NA","NA","NA","NA","NA","NA",216,"NA",0,"SOMATIC","Targeted_seq & RNAseq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MEN1","chr11",64572612,64572612,"NM_000244","C","G","nonsynonymous SNV","SNM","D","D","D","c.G1259C","p.R420P;MEN1","NA",0.2,95,"NA","NA","NA","NA","NA","NA","NA",496,"NA",0,"SOMATIC","Targeted_seq & RNAseq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ZCRB1","chr12",42717908,42717908,"NA","-","A","splicing","INS","NA","NA","NA","NA","NA","NA",0.4545455,121,"NA","NA","NA","NA","NA","NA",0.3870968,775,"NA",913,"SOMATIC","Targeted_seq","NM_033114",31.2881141,30.2505165,47.3035377,"zinc finger CCHC-type and RNA binding motif containing 1","MADP-1, MADP1, RBM36, SNRNP31, ZCCHC19","Pre-mRNA splicing is catalyzed by the spliceosome. U12-type spliceosome binds U12-type pre-mRNAs and recognizes the 5' splice site and branch-point sequence. U11 and U12 snRNPs are components of U12-type spliceosome and function as a molecular bridge connecting both ends of the intron. The protein encoded by this gene contains a RNA recognition motif. It was identified as one of the protein components of U11/U12 snRNPs. This protein and many other U11/U12 snRNP proteins are highly conserved in organisms known to contain U12-type introns. These proteins have been shown to be essential for cell viability, suggesting the key roles in U12-type splicing. [provided by RefSeq, Jul 2008]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","HERC2","chr15",28459233,28459233,"NM_004667","G","A","nonsynonymous SNV","SNM","T","B","B","c.C6544T","p.P2182S","NA",0.3882682,358,"NA","NA","NA","NA","NA","NA",0.4042266,4448,"NA",28,"SOMATIC","Targeted_seq & RNAseq","NM_004667",4.80594217,4.5469645,7.4471393,"HECT and RLD domain containing E3 ubiquitin protein ligase 2","D15F37S1, MRT38, SHEP1, jdf2, p528","This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","AKAP13","chr15",86262390,86262390,"NM_001270546","C","T","nonsynonymous SNV","SNM","T","D","D","c.C1948T","p.L650F;AKAP13","Dbl homology (DH) domain",0.3902439,164,"NA","NA","NA","NA","NA","NA",0.2917611,2646,"NA",2745,"SOMATIC","Targeted_seq & RNAseq","NM_144767",4.316908773,4.1261465,7.3807391,"A-kinase anchoring protein 13","AKAP-13, AKAP-Lbc, ARHGEF13, BRX, HA-3, Ht31, LBC, PRKA13, PROTO-LB, PROTO-LBC, c-lbc, p47","The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms containing c-terminal dbl oncogene homology (DH) and pleckstrin homology (PH) domains. The DH domain is associated with guanine nucleotide exchange activation for the Rho/Rac family of small GTP binding proteins, resulting in the conversion of the inactive GTPase to the active form capable of transducing signals. The PH domain has multiple functions. Therefore, these isoforms function as scaffolding proteins to coordinate a Rho signaling pathway, function as protein kinase A-anchoring proteins and, in addition, enhance ligand-dependent activity of estrogen receptors alpha and beta. [provided by RefSeq, Jul 2012]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","NTRK3","chr15",88472600,88472600,"NM_001243101","C","T","nonsynonymous SNV","SNM","T","D","D","c.G1931A","p.G644E;NTRK3","Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain;Protein kinase domain|Protein kinase-like domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase, catalytic domain",0.3913043,437,"NA","NA","NA","NA","NA","NA",0.4940978,593,"NA",803,"SOMATIC","Targeted_seq","NM_001007156",0.36715467,0.1887775,0.7000043,"neurotrophic tyrosine kinase, receptor, type 3","AW125844, Ntrk3_tv3, TrkC",null,"NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","TFAP2C","chr20",55208502,55208502,"NM_003222","T","C","nonsynonymous SNV","SNM","D","D","D","c.T680C","p.V227A","Transcription factor AP-2, C-terminal",0.4193548,310,"NA","NA","NA","NA","NA","NA",0.3909396,1192,"NA",1441,"SOMATIC","Targeted_seq","NM_003222",0.442795307,0.0576575,0.7797885,"transcription factor AP-2 gamma","AP2-GAMMA, ERF1, TFAP2G, hAP-2g","The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","TRAPPC10","chr21",45494302,45494302,"NM_003274","A","T","nonsynonymous SNV","SNM","D","B","B","c.A1136T","p.D379V","NA",0.3920455,352,"NA","NA","NA","NA","NA","NA",0.4300558,3946,"NA",4708,"SOMATIC","Targeted_seq & RNAseq","NM_003274",10.09803557,9.350448,15.3185009,"trafficking protein particle complex 10","EHOC-1, EHOC1, GT334, TMEM1, TRS130, TRS30","The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]","NA"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SMARCA1","chrX",128626046,128626046,"NM_001282875","G","A","nonsynonymous SNV","SNM","D","D","D","c.C1651T","p.P551S;SMARCA1","Helicase, C-terminal|P-loop containing nucleoside triphosphate hydrolase",0.8787879,33,"NA","NA","NA","NA","NA","NA",0.8761905,105,"NA",399,"SOMATIC","Targeted_seq & RNAseq","NM_003069",23.51016098,20.958068,36.4155932,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1","ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L","This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]","SWI.SNF"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SMARCA1","chrX",128631831,128631831,"NM_001282874","T","C","nonsynonymous SNV","SNM","D","B","B","c.A1495G","p.K499E;SMARCA1","Helicase, C-terminal|P-loop containing nucleoside triphosphate hydrolase",0.4133333,75,"NA","NA","NA","NA","NA","NA",0.4787645,259,"NA",288,"SOMATIC","Targeted_seq & RNAseq","NM_003069",23.51016098,20.958068,36.4155932,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1","ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L","This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]","SWI.SNF"]
["LNEN020","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MECP2","chrX",153297868,153297868,"NM_001110792","G","A","nonsynonymous SNV","SNM","D","D","D","c.C203T","p.P68L;MECP2","NA",0.890625,64,"NA","NA","NA","NA","NA","NA",0.9657738,672,"NA",375,"SOMATIC","Targeted_seq","NM_004992",8.023346591,8.406624,12.3359587,"methyl-CpG binding protein 2","AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT","DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","VPS13D","chr1",12569017,12569017,"NM_018156","A","C","nonsynonymous SNV","SNM","NA","P","B","c.A13031C","p.Y4344S;VPS13D","NA",0.4810127,158,"NA","NA","NA","NA","NA","NA",0.4857686,13140,"NA",73,"SOMATIC","Targeted_seq & RNAseq","NM_018156",3.197363091,3.312831,4.8655099,"vacuolar protein sorting 13 homolog D",null,"This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","RBSN","chr3",15116196,15116196,"NM_001302378","C","A","nonsynonymous SNV","SNM","T","P","B","c.G1448T","p.R483L;RBSN","Rabenosyn, Rab binding domain",0.4776119,134,"NA","NA","NA","NA","NA","NA",0.4992605,6085,"NA",63,"SOMATIC","Targeted_seq & RNAseq","NM_022340",3.792058455,4.0259835,5.6909508,"rabenosyn, RAB effector","Rabenosyn-5, ZFYVE20","This gene encodes a protein that belongs to the FYVE zinc finger family of proteins. The encoded protein interacts with Ras-related proteins that regulate membrane trafficking. A missense mutation in this gene is associated with a defect in the early endocytic pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","AMIGO3","chr3",49755650,49755650,"NM_198722","-","GCAGCGGCAGGCACGGCGGCA","nonframeshift insertion","INS","NA","NA","NA","c.1248_1249insTGCCGCCGTGCCTGCCGCTGC","p.R417delinsCRRACRCR","NA",0.1346939,245,"NA","NA","NA","NA","NA","NA",0.1941294,1499,"NA",17,"SOMATIC","Targeted_seq","NM_198722",2.535803784,2.3587745,4.0971723,"adhesion molecule with Ig like domain 3","ALI3, AMIGO-3",null,"NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","INTS12","chr4",106613285,106613285,"NM_001142471","T","A","nonsynonymous SNV","SNM","D","B","B","c.A505T","p.M169L;INTS12","Zinc finger, FYVE/PHD-type|Zinc finger, PHD-finger|Zinc finger, PHD-type|Zinc finger, PHD-type, conserved site|Zinc finger, RING/FYVE/PHD-type",0.5057471,87,"NA","NA","NA","NA","NA","NA",0.4769286,2774,"NA",35,"SOMATIC","Targeted_seq & RNAseq","NM_001142471",7.690853534,7.3734275,10.3777889,"integrator complex subunit 12","INT12, PHF22, SBBI22","INTS12 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","LEF1","chr4",109000766,109000766,"NM_001130713","A","G","nonsynonymous SNV","SNM","T","B","B","c.T643C","p.S215P;LEF1","CTNNB1 binding, N-teminal",0.3977695,269,"NA","NA","NA","NA","NA","NA",0.5093516,3208,"NA",39,"SOMATIC","Targeted_seq","NM_001166119",0.697015466,0.4516835,1.5730329,"lymphoid enhancer binding factor 1","3000002B05, AI451430, Lef-1",null,"NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","PCDH12","chr5",141334676,141334676,"NM_016580","C","T","nonsynonymous SNV","SNM","D","P","B","c.G2741A","p.R914Q","NA",0.4347826,69,"NA","NA","NA","NA","NA","NA",0.4929786,5412,"NA",153,"SOMATIC","Targeted_seq & RNAseq","NM_016580",1.391289068,1.1221985,2.7010506,"protocadherin 12","Pcdh14, VE-cad-2",null,"NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","SEC23IP","chr10",121662521,121662521,"NM_007190","G","A","nonsynonymous SNV","SNM","T","B","B","c.G907A","p.V303I","NA",0.4571429,70,"NA","NA","NA","NA","NA","NA",0.4953184,1068,"NA",82,"SOMATIC","Targeted_seq & RNAseq","NM_007190",4.379526318,4.8339835,6.6382548,"SEC23 interacting protein","MSTP053, P125, P125A","This gene encodes a member of the phosphatidic acid preferring-phospholipase A1 family. The encoded protein is localized to endoplasmic reticulum exit sites and plays a critical role in ER-Golgi transport as part of the multimeric coat protein II complex. An orthologous gene in frogs is required for normal neural crest cell development, suggesting that this gene may play a role in Waardenburg syndrome neural crest defects. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","SERPINA4","chr14",95030150,95030150,"NM_001289032","G","A","nonsynonymous SNV","SNM","T","B","B","c.G442A","p.E148K;SERPINA4","Serpin domain",0.4041096,146,"NA","NA","NA","NA","NA","NA",0.486166,1265,"NA",65,"SOMATIC","Targeted_seq","NM_006215",6.310000159,0.040843,3.1840741,"serpin family A member 4","KAL, KLST, KST, PI-4, PI4, kallistatin",null,"NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","VEZF1","chr17",56056604,56056604,"NM_007146","-","TGC","nonframeshift insertion","INS","NA","NA","NA","c.1046_1047insGCA","p.Q349delinsQQ","NA",0.2167832,143,"NA","NA","NA","NA","NA","NA",0.04814385,3448,"NA",122,"SOMATIC","Targeted_seq","NM_007146",20.18371234,19.886991,31.490149,"vascular endothelial zinc finger 1","AI848691, AW046909, db1",null,"NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","ICAM1","chr19",10395320,10395320,"NM_000201","G","C","nonsynonymous SNV","SNM","D","P","P","c.G1167C","p.E389D","Immunoglobulin subtype|Immunoglobulin-like domain|Immunoglobulin-like fold",0.4260355,169,"NA","NA","NA","NA","NA","NA",0.4992523,8693,"NA",91,"SOMATIC","Targeted_seq & RNAseq","NM_000201",6.441439977,2.258114,14.2690652,"intercellular adhesion molecule 1","BB2, CD54, P3.58","This gene encodes a cell surface glycoprotein which is typically expressed on endothelial cells and cells of the immune system. It binds to integrins of type CD11a / CD18, or CD11b / CD18 and is also exploited by Rhinovirus as a receptor. [provided by RefSeq, Jul 2008]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","ICAM5","chr19",10404736,10404736,"NM_003259","C","T","nonsynonymous SNV","SNM","T","B","B","c.C1732T","p.P578S","Immunoglobulin-like domain|Immunoglobulin-like fold",0.5414365,181,"NA","NA","NA","NA","NA","NA",0.5299969,3217,"NA",280,"SOMATIC","Targeted_seq","NM_003259",0.188735295,0.082373,0.3341762,"intercellular adhesion molecule 5, telencephalin","CD50, ICAM-3, Icam3, TLN, Tlcn",null,"NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","SDCBP2","chr20",1293392,1293392,"NM_015685","C","A","nonsynonymous SNV","SNM","D","B","B","c.G144T","p.Q48H;SDCBP2","PDZ domain",0.4651163,258,"NA","NA","NA","NA","NA","NA",0.4039735,755,"NA","NA","SOMATIC","Targeted_seq & RNAseq","NM_080489",1.223657114,0.499232,2.8400619,"syndecan binding protein 2","SITAC, SITAC18, ST-2, ST2","The protein encoded by this gene contains two class II PDZ domains. PDZ domains facilitate protein-protein interactions by binding to the cytoplasmic C-terminus of transmembrane proteins, and PDZ-containing proteins mediate cell signaling and the organization of protein complexes. The encoded protein binds to phosphatidylinositol 4, 5-bisphosphate (PIP2) and plays a role in nuclear PIP2 organization and cell division. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. Read-through transcription also exists between this gene and the upstream FKBP1A (FK506 binding protein 1A, 12kDa) gene, as represented in GeneID:100528031. [provided by RefSeq, Sep 2011]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","KIF16B","chr20",16351252,16351252,"NM_001199865","A","C","nonsynonymous SNV","SNM","T","P","P","c.T3324G","p.I1108M;KIF16B","NA",0.3968254,63,"NA","NA","NA","NA","NA","NA",0.51068,5618,"NA",325,"SOMATIC","Targeted_seq & RNAseq","NM_024704",2.619515318,2.309595,4.718524,"kinesin family member 16B","C20orf23, KISC20ORF, SNX23","The protein encoded by this gene is a kinesin-like protein that may be involved in intracellular trafficking. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2010]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","JPH2","chr20",42788403,42788403,"NM_020433","G","A","nonsynonymous SNV","SNM","D","D","P","c.C1024T","p.R342C","NA",0.2235294,340,"NA","NA","NA","NA","NA","NA",0.5,16,"NA",48,"SOMATIC","Targeted_seq","NM_020433",0.360609216,0.2104345,0.829355,"junctophilin 2","1110002E14Rik, JP-2, Jp2",null,"NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SELP","chr1",169581614,169581614,"NM_003005","G","A","nonsynonymous SNV","SNM","D","D","D","c.C802T","p.P268S","Sushi/SCR/CCP domain",0.3824885,217,"NA","NA","NA","NA","NA","NA",0.422093,860,"NA",837,"SOMATIC","Targeted_seq","NM_003005",1.164357375,0.852916,2.6318209,"selectin P","CD62, CD62P, GMP140, GRMP, LECAM3, PADGEM, PSEL","This gene encodes a 140 kDa protein that is stored in the alpha-granules of platelets and Weibel-Palade bodies of endothelial cells. This protein redistributes to the plasma membrane during platelet activation and degranulation and mediates the interaction of activated endothelial cells or platelets with leukocytes. The membrane protein is a calcium-dependent receptor that binds to sialylated forms of Lewis blood group carbohydrate antigens on neutrophils and monocytes. Alternative splice variants may occur but are not well documented. [provided by RefSeq, Jul 2008]","NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","RNF123","chr3",49753303,49753303,"NM_022064","C","G","nonsynonymous SNV","SNM","D","D","D","c.C3199G","p.Q1067E","NA",0.05641026,195,"NA","NA","NA","NA","NA","NA",0.04097189,2099,"NA",2239,"SOMATIC","Targeted_seq","NM_022064",9.638729648,9.9384305,14.446623,"ring finger protein 123","FP1477, KPC1","The protein encoded by this gene contains a C-terminal RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions, and an N-terminal SPRY domain. This protein displays E3 ubiquitin ligase activity toward the cyclin-dependent kinase inhibitor 1B which is also known as p27 or KIP1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]","NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","TAF9","chr5",68660808,68660808,"NM_001015892","C","T","nonsynonymous SNV","SNM","T","P","B","c.G757A","p.D253N;TAF9","NA",0.4731183,93,"NA","NA","NA","NA","NA","NA",0.4175824,819,"NA",10849,"SOMATIC","Targeted_seq","NM_003187",38.4748218,35.5275445,54.3530252,"TATA-box binding protein associated factor 9","MGC:5067, STAF31/32, TAF2G, TAFII-31, TAFII-32, TAFII31, TAFII32, TAFIID32","Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes one of the smaller subunits of TFIID that binds to the basal transcription factor GTF2B as well as to several transcriptional activators such as p53 and VP16. In human, TAF9 and AK6 (GeneID: 102157402) are two distinct genes that share 5' exons. A similar but distinct gene (TAF9L) has been found on the X chromosome and a pseudogene has been identified on chromosome 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]","NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SUPT3H","chr6",44900500,44900500,"NM_001261823","T","C","nonsynonymous SNV","SNM","T","B","B","c.A346G","p.S116G;SUPT3H","NA",0.05405405,111,"NA","NA","NA","NA","NA","NA",0.02857143,245,"NA",486,"SOMATIC","Targeted_seq","NM_003599",2.495348523,2.292797,3.7034533,"SPT3 homolog, SAGA and STAGA complex component","SPT3, SPT3L",null,"NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SYNE1","chr6",152557983,152557983,"NM_033071","T","C","nonsynonymous SNV","SNM","D","P","B","c.A19955G","p.D6652G;SYNE1","NA",0.3125,224,"NA","NA","NA","NA","NA","NA",0.3759347,1471,"NA",1480,"SOMATIC","Targeted_seq & RNAseq","NM_182961",2.004349625,0.9245565,5.1060876,"spectrin repeat containing nuclear envelope protein 1","8B, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2","This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MPP6","chr7",24705679,24705679,"NM_001303037","A","G","nonsynonymous SNV","SNM","T","B","B","c.A923G","p.K308R;MPP6","SH3 domain",0.2333333,30,"NA","NA","NA","NA","NA","NA",0.5877863,786,"NA",2739,"SOMATIC","Targeted_seq","NM_016447",1.992328443,0.1247645,5.2414278,"membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)","P55t, Pals2",null,"NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","RBFOX3","chr17",77100184,77100184,"NM_001082575","C","T","nonsynonymous SNV","SNM","NA","P","P","c.G385A","p.E129K","Nucleotide-binding alpha-beta plait domain|RNA recognition motif domain",0.05194805,154,"NA","NA","NA","NA","NA","NA",0.03928571,280,"NA",508,"SOMATIC","Targeted_seq","NM_001082575",0.116333955,0.010469,0.0505923,"RNA binding protein, fox-1 homolog (C. elegans) 3","Fox-3, Hrnbp3, NeuN, Neuna60",null,"NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","CROCC","chr1",17257022,17257030,"NM_014675","CCAATGACT","-","nonframeshift deletion","DEL","NA","NA","NA","c.782_790del","p.261_264del","NA",0.06382979,94,"NA","NA","NA","NA","NA","NA",0.02211302,1221,"NA",1164,"SOMATIC","Targeted_seq","NM_014675",4.348870886,3.284338,8.375609,"ciliary rootlet coiled-coil, rootletin","ROLT, TAX1BP2",null,"NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","DPY30","chr2",32264389,32264389,"NM_032574","C","T","nonsynonymous SNV","SNM","T","D","D","c.G43A","p.E15K","NA",0.4196429,224,"NA","NA","NA","NA","NA","NA",0.3381569,1313,0.00770416,1982,"SOMATIC","Targeted_seq & RNAseq","NM_032574",52.62653122,42.5132735,97.202823,"dpy-30, histone methyltransferase complex regulatory subunit","Cps25, HDPY-30, Saf19","This gene encodes an integral core subunit of the SET1/MLL family of H3K4 methyltransferases. The encoded protein directly controls cell cycle regulators and plays an important role in the proliferation and differentiation of human hematopoietic progenitor cells. [provided by RefSeq, Mar 2016]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","IHH","chr2",219920024,219920024,"NM_002181","C","A","nonsynonymous SNV","SNM","T","B","B","c.G1141T","p.V381L","Hedgehog protein, Hint domain",0.4623116,199,"NA","NA","NA","NA","NA","NA",0.5555256,3710,0.0185011,3189,"SOMATIC","Targeted_seq","NM_002181",3.796745307,0.261664,14.5584507,"Indian hedgehog","HHG-2",null,"NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ROBO1","chr3",78656152,78656152,"NM_001145845","G","A","nonsynonymous SNV","SNM","T","D","D","c.C4175T","p.S1392L;ROBO1","NA",0.3217822,202,"NA","NA","NA","NA","NA","NA",0.4376403,3119,0.004306367,3268,"SOMATIC","Targeted_seq & RNAseq","NM_002941",5.18495617,2.934434,13.3751604,"roundabout guidance receptor 1","DUTT1, SAX3","Bilateral symmetric nervous systems have special midline structures that establish a partition between the two mirror image halves. Some axons project toward and across the midline in response to long-range chemoattractants emanating from the midline. The product of this gene is a member of the immunoglobulin gene superfamily and encodes an integral membrane protein that functions in axon guidance and neuronal precursor cell migration. This receptor is activated by SLIT-family proteins, resulting in a repulsive effect on glioma cell guidance in the developing brain. A related gene is located at an adjacent region on chromosome 3. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","N4BP2","chr4",40138701,40138701,"NM_018177","A","G","nonsynonymous SNV","SNM","D","D","D","c.A4784G","p.K1595R","NA",0.4310345,58,"NA","NA","NA","NA","NA","NA",0.5543906,763,0.01595745,887,"SOMATIC","Targeted_seq","NM_018177",3.15307683,2.9873655,4.8986001,"NEDD4 binding protein 2","B3BP","This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","DTWD2","chr5",118176733,118176733,"NM_001308081","C","T","nonsynonymous SNV","SNM","D","D","D","c.G578A","p.G193D;DTWD2","NA",0.4716981,106,"NA","NA","NA","NA","NA","NA",0.5555556,189,"NA",99,"SOMATIC","Targeted_seq & RNAseq","NM_173666",1.577930909,1.375407,2.6804027,"DTW domain containing 2",null,null,"NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","INSC","chr11",15247234,15247234,"NM_001278316","C","A","nonsynonymous SNV","SNM","D","D","D","c.C904A","p.L302M;INSC","Armadillo-like helical|Armadillo-type fold",0.3103448,116,"NA","NA","NA","NA","NA","NA",0.2757794,417,"NA",447,"SOMATIC","Targeted_seq","NM_001042536",0.539438182,0.228379,1.3642377,"inscuteable","Dmel_CG11312, 25/17, CG11312, Dmel\\CG11312, INSC, Ins, Insc, fam, l(2)05475, l(2)k12405, nem",null,"NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","HECTD4","chr12",112645735,112645735,"NM_001109662","G","A","nonsynonymous SNV","SNM","NA","D","D","c.C7672T","p.R2558C","NA",0.06746032,252,"NA","NA","NA","NA","NA","NA",0.1008772,456,"NA",434,"SOMATIC","Targeted_seq & RNAseq","NM_001109662",6.608658568,5.0797105,12.865156,"HECT domain E3 ubiquitin protein ligase 4","C12ord51, C12orf51, HEEL, POTAGE",null,"NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","CHD9","chr16",53319534,53319534,"NM_001308319","C","G","nonsynonymous SNV","SNM","T","D","P","c.C4994G","p.P1665R;CHD9","NA",0.12,75,"NA","NA","NA","NA","NA","NA",0.1801802,111,"NA",126,"SOMATIC","Targeted_seq","NM_025134",7.11858808,6.4617075,10.9496849,"chromodomain helicase DNA binding protein 9","AD013, CHD-9, CReMM, KISH2, PRIC320",null,"NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ERN1","chr17",62137903,62137903,"NM_001433","T","C","nonsynonymous SNV","SNM","T","B","B","c.A1132G","p.R378G","NA",0.08609272,151,"NA","NA","NA","NA","NA","NA",0.05225515,6851,0.004504505,7104,"SOMATIC","Targeted_seq","NM_001433",7.44595725,5.072064,17.191586,"endoplasmic reticulum to nucleus signaling 1","IRE1, IRE1P, IRE1a, hIRE1p","This gene encodes the transmembrane protein kinase inositol-requiring enzyme 1. The encoded protein contains two functional catalytic domains, a serine/threonine-protein kinase domain and an endoribonuclease domain. This protein functions as a sensor of unfolded proteins in the endoplasmic reticulum (ER) and triggers an intracellular signaling pathway termed the unfolded protein response (UPR). The UPR is an ER stress response that is conserved from yeast to mammals and activates genes involved in degrading misfolded proteins, regulating protein synthesis and activating molecular chaperones. This protein specifically mediates the splicing and activation of the stress response transcription factor X-box binding protein 1. [provided by RefSeq, Aug 2017]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","CABIN1","chr22",24509575,24509575,"NM_001201429","G","A","nonsynonymous SNV","SNM","T","D","D","c.G4010A","p.S1337N;CABIN1","NA",0.1419753,162,"NA","NA","NA","NA","NA","NA",0.1607963,653,"NA",822,"SOMATIC","Targeted_seq","NM_012295",4.974507591,5.2663045,8.7334692,"calcineurin binding protein 1","CAIN, KB-318B8.7, PPP3IN","Calcineurin plays an important role in the T-cell receptor-mediated signal transduction pathway. The protein encoded by this gene binds specifically to the activated form of calcineurin and inhibits calcineurin-mediated signal transduction. The encoded protein is found in the nucleus and contains a leucine zipper domain as well as several PEST motifs, sequences which confer targeted degradation to those proteins which contain them. Alternative splicing results in multiple transcript variants encoding two different isoforms. [provided by RefSeq, Jan 2011]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SREBF2","chr22",42273237,42273239,"NM_004599","AAG","-","nonframeshift deletion","DEL","NA","NA","NA","c.1391_1393del","p.464_465del","NA",0.4444444,126,"NA","NA","NA","NA","NA","NA",0.5184188,5945,0.01307448,5048,"SOMATIC","Targeted_seq & RNAseq","NM_004599",26.27741195,23.9007295,49.9148196,"sterol regulatory element binding transcription factor 2","SREBP-2, SREBP2, bHLHd2","This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","CDKL5","chrX",18622510,18622510,"NM_003159","A","G","nonsynonymous SNV","SNM","D","D","D","c.A1466G","p.H489R;CDKL5","NA",0.3383459,133,"NA","NA","NA","NA","NA","NA",0.3460803,5230,0.0257764,3220,"SOMATIC","Targeted_seq","NM_003159",1.25720867,0.891485,3.0328472,"cyclin dependent kinase like 5","CFAP247, EIEE2, ISSX, STK9","This gene is a member of Ser/Thr protein kinase family and encodes a phosphorylated protein with protein kinase activity. Mutations in this gene have been associated with X-linked infantile spasm syndrome (ISSX), also known as X-linked West syndrome, and Rett syndrome (RTT). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","GDPD2","chrX",69652893,69652893,"NM_001171191","C","A","nonsynonymous SNV","SNM","D","P","B","c.C1340A","p.T447K;GDPD2","Glycerophosphodiester phosphodiesterase domain|PLC-like phosphodiesterase, TIM beta/alpha-barrel domain",0.04035874,223,"NA","NA","NA","NA","NA","NA",0.04,725,"NA",280,"SOMATIC","Targeted_seq","NM_001171191",0.110456023,0.0106065,0.3582398,"glycerophosphodiester phosphodiesterase domain containing 2","9130017L10Rik, Gde3, Obdpf","This gene encodes a member of the glycerophosphodiester phosphodiesterase enzyme family. The encoded protein hydrolyzes glycerophosphoinositol to produce inositol 1-phosphate and glycerol. Overexpression of this gene is associated with activity-dependent actin cytoskeleton disorganization. The encoded protein may negatively regulate growth rate and induce differentiation of osteoblasts. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]","NA"]
["LNEN007","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","GABRE","chrX",151128448,151128448,"NM_004961","A","C","nonsynonymous SNV","SNM","D","D","D","c.T647G","p.F216C","Neurotransmitter-gated ion-channel ligand-binding domain",0.2972973,37,"NA","NA","NA","NA","NA","NA",0.3163914,1574,"NA",1531,"SOMATIC","Targeted_seq","NM_004961",1.377966625,0.3749375,3.0873677,"gamma-aminobutyric acid type A receptor epsilon subunit",null,"The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. [provided by RefSeq, Oct 2008]","NA"]
["LNEN011","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","CENPF","chr1",214820538,214820538,"NM_016343","C","G","nonsynonymous SNV","SNM","D","D","P","c.C7625G","p.S2542C","Centromere protein Cenp-F, leucine-rich repeat-containing domain",0.0531401,207,"NA","NA","NA","NA","NA","NA",0.07191781,292,"NA",352,"SOMATIC","Targeted_seq","NM_016343",0.834590966,0.441916,1.9906453,"centromere protein F","CENF, CILD31, PRO1779, STROMS, hcp-1","This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]","NA"]
["LNEN011","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","D2HGDH","chr2",242695266,242695266,"NM_001287249","G","T","nonsynonymous SNV","SNM","D","B","B","c.G741T","p.M247I;D2HGDH","FAD-linked oxidase, C-terminal|FAD-linked oxidase-like, C-terminal",0.03559871,309,"NA","NA","NA","NA","NA","NA",0.0248566,1046,"NA",1199,"SOMATIC","Targeted_seq","NM_152783",6.527982545,5.593332,9.8804296,"D-2-hydroxyglutarate dehydrogenase","D2HGD","This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. [provided by RefSeq, Jul 2008]","NA"]
["LNEN011","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","PCF11","chr11",82877501,82877501,"NM_015885","T","-","frameshift deletion","DEL","NA","NA","NA","c.1562delT","p.I521fs","NA",0.01510574,331,"NA","NA","NA","NA","NA","NA",0.008347245,599,"NA",599,"SOMATIC","Targeted_seq","NM_015885",7.489575409,7.2822045,10.8812013,"Pcf11p","YDR228C",null,"NA"]
["LNEN011","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","MOK","chr14",102695699,102695699,"NM_001272011","T","A","nonsynonymous SNV","SNM","D","B","B","c.A1097T","p.D366V;MOK","NA",0.0349345,229,"NA","NA","NA","NA","NA","NA",0.03391638,9376,"NA",301,"SOMATIC","Targeted_seq","NM_014226",4.420114614,3.974807,7.3094003,"MOK protein kinase","RAGE, RAGE-1, RAGE1, STK30","This gene belongs to the MAP kinase superfamily. The gene was found to be regulated by caudal type transcription factor 2 (Cdx2) protein. The encoded protein, which is localized to epithelial cells in the intestinal crypt, may play a role in growth arrest and differentiation of cells of upper crypt and lower villus regions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for this gene. [provided by RefSeq, Dec 2012]","NA"]
["LNEN011","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","TAF15","chr17",34171711,34171734,"NM_003487","GGCTATGGAGGAGACCGAGGAGGT","-","nonframeshift deletion","DEL","NA","NA","NA","c.1399_1422del","p.467_474del;TAF15","NA",0.2208202,317,"NA","NA","NA","NA","NA","NA",0.06589645,2337,"NA",84,"SOMATIC","Targeted_seq","NM_139215",49.94910211,42.7985895,66.0412514,"TATA-box binding protein associated factor 15","Npl3, RBP56, TAF2N, TAFII68","This gene encodes a member of the TET family of RNA-binding proteins. The encoded protein plays a role in RNA polymerase II gene transcription as a component of a distinct subset of multi-subunit transcription initiation factor TFIID complexes. Translocations involving this gene play a role in acute leukemia and extraskeletal myxoid chondrosarcoma, and mutations in this gene may play a role in amyotrophic lateral sclerosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]","NA"]
["LNEN011","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","DNAH17","chr17",76425336,76425336,"NM_173628","C","A","nonsynonymous SNV","SNM","NA","D","D","c.G12271T","p.G4091C","Dynein heavy chain domain",0.06418919,296,"NA","NA","NA","NA","NA","NA",0.06992788,3189,"NA",2538,"SOMATIC","Targeted_seq","NM_173628",0.286037966,0.080491,0.7093764,"dynein axonemal heavy chain 17","DNAHL1, DNEL2","Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]","NA"]
["LNEN011","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","ARFRP1","chr20",62331960,62331960,"NM_001267546","A","C","nonsynonymous SNV","SNM","NA","D","D","c.T371G","p.L124R;ARFRP1","P-loop containing nucleoside triphosphate hydrolase|Small GTP-binding protein domain",0.1964286,280,"NA","NA","NA","NA","NA","NA",0.2068966,232,"NA",310,"SOMATIC","Targeted_seq","NM_001267548",5.813109545,4.9513185,10.882285,"ADP ribosylation factor related protein 1","ARL18, ARP, Arp1","The protein encoded by this gene is a membrane-associated GTP-ase which localizes to the plasma membrane and is related to the ADP-ribosylation factor (ARF) and ARF-like (ARL) proteins. This gene plays a role in membrane trafficking between the trans-Golgi network and endosomes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, May 2012]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","YBX1","chr1",43161915,43161920,"NM_004559","GGAGAT","-","nonframeshift deletion","DEL","NA","NA","NA","c.310_315del","p.104_105del","NA",0.1089109,101,"NA","NA","NA","NA","NA","NA",0.06918239,159,"NA",454,"SOMATIC","Targeted_seq & RNAseq","NM_004559",171.3811255,167.8390275,243.1479495,"Y-box binding protein 1","BP-8, CBF-A, CSDA2, CSDB, DBPB, EFI-A, MDR-NF1, NSEP-1, NSEP1, YB-1, YB1","This gene encodes a highly conserved cold shock domain protein that has broad nucleic acid binding properties. The encoded protein functions as both a DNA and RNA binding protein and has been implicated in numerous cellular processes including regulation of transcription and translation, pre-mRNA splicing, DNA reparation and mRNA packaging. This protein is also a component of messenger ribonucleoprotein (mRNP) complexes and may have a role in microRNA processing. This protein can be secreted through non-classical pathways and functions as an extracellular mitogen. Aberrant expression of the gene is associated with cancer proliferation in numerous tissues. This gene may be a prognostic marker for poor outcome and drug resistance in certain cancers. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are found on multiple chromosomes. [provided by RefSeq, Sep 2015]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","RUSC1-AS1","chr1",155290597,155290597,"NM_001039517","T","C","nonsynonymous SNV","SNM","NA","NA","NA","c.A683G","p.H228R","NA",0.7777778,108,"NA","NA","NA","NA","NA","NA",0.7461538,520,0.03264095,1352,"SOMATIC","Targeted_seq","NM_001039517",0.383355159,0.3343285,0.7041706,"RUSC1 antisense RNA 1","C1orf104",null,"NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","FGB","chr4",155487065,155487065,"NM_005141","C","T","nonsynonymous SNV","SNM","D","D","D","c.C220T","p.R74C","NA",0.398374,123,"NA","NA","NA","NA","NA","NA",0.5189873,79,"NA",179,"SOMATIC","Targeted_seq","NM_005141",15.70484224,0.008294,57.1059861,"fibrinogen beta chain","HEL-S-78p","The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","ESM1","chr5",54275234,54275234,"NM_001135604","T","A","nonsynonymous SNV","SNM","D","B","B","c.A331T","p.I111F;ESM1","NA",0.2567568,74,"NA","NA","NA","NA","NA","NA",0.3705179,1757,0.01868753,2319,"SOMATIC","Targeted_seq","NM_007036",7.800134307,5.447158,18.4297231,"endothelial cell specific molecule 1","endocan","This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","SLC10A5","chr8",82606303,82606303,"NM_001010893","A","G","nonsynonymous SNV","SNM","D","D","D","c.T905C","p.L302S","NA",0.34375,64,"NA","NA","NA","NA","NA","NA",0.3345656,541,0.0432357,723,"SOMATIC","Targeted_seq","NM_001010893",0.551612886,0.404948,1.1173187,"solute carrier family 10 (sodium/bile acid cotransporter family), member 5","Gm405, mP5",null,"NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","DOCK1","chr10",128821496,128821496,"NM_001290223","G","T","nonsynonymous SNV","SNM","D","D","D","c.G1360T","p.V454F;DOCK1","DHR-1 domain",0.3122363,237,"NA","NA","NA","NA","NA","NA",0.3963636,1925,0.02,1973,"SOMATIC","Targeted_seq & RNAseq","NM_001380",11.08622706,9.252978,21.2384401,"dedicator of cytokinesis 1","DOCK180, ced5","This gene encodes a member of the dedicator of cytokinesis protein family. Dedicator of cytokinesis proteins act as guanine nucleotide exchange factors for small Rho family G proteins. The encoded protein regulates the small GTPase Rac, thereby influencing several biological processes, including phagocytosis and cell migration. Overexpression of this gene has also been associated with certain cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","IPO5","chr13",98637777,98637796,"NM_002271","GAGCTACTCATGATTATTCA","-","frameshift deletion","DEL","NA","NA","NA","c.328_347del","p.E110fs","NA",0.02162162,185,"NA","NA","NA","NA","NA","NA",0.01368276,13813,"NA",4917,"SOMATIC","Targeted_seq","NM_002271",24.10687134,22.7599285,36.2584172,"importin 5","IMB3, KPNB3, Pse1, RANBP5, imp5","Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. [provided by RefSeq, Jul 2008]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","PRPF8","chr17",1563731,1563731,"NM_006445","A","G","nonsynonymous SNV","SNM","D","D","D","c.T4780C","p.C1594R","Pre-mRNA-processing-splicing factor 8, U6-snRNA-binding",0.4385965,114,"NA","NA","NA","NA","NA","NA",0.3986679,1051,0.03248031,1092,"SOMATIC","Targeted_seq & RNAseq","NM_006445",44.66951469,44.421403,74.0557924,"pre-mRNA processing factor 8","HPRP8, PRP8, PRPC8, RP13, SNRNP220","Pre-mRNA splicing occurs in 2 sequential transesterification steps. The protein encoded by this gene is a component of both U2- and U12-dependent spliceosomes, and found to be essential for the catalytic step II in pre-mRNA splicing process. It contains several WD repeats, which function in protein-protein interactions. This protein has a sequence similarity to yeast Prp8 protein. This gene is a candidate gene for autosomal dominant retinitis pigmentosa. [provided by RefSeq, Jul 2008]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","NCOA6","chr20",33303150,33303150,"NM_001242539","T","A","nonsynonymous SNV","SNM","D","D","D","c.A3189T","p.Q1063H;NCOA6","NA",0.07194245,139,"NA","NA","NA","NA","NA","NA",0.1297297,185,"NA",239,"SOMATIC","Targeted_seq & RNAseq","NM_014071",8.257646886,8.335002,12.5342627,"nuclear receptor coactivator 6","AIB3, ASC2, NRC, PRIP, RAP250, TRBP","The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]","NA"]
["LNEN013","Atypical","Ca A1","Ca A","Yes","NA","Yes","yes","KDM5C","chrX",53222620,53222629,"NM_001282622","TCCAGAAGTG","-","frameshift deletion","DEL","NA","NA","NA","c.4304_4313del","p.T1435fs;KDM5C","NA",0.02209945,181,"NA","NA","NA","NA","NA","NA",0.01114206,359,"NA",87,"SOMATIC","Targeted_seq","NM_004187",14.19450091,13.858604,20.5394371,"lysine demethylase 5C","DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169","This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]","Demeth"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","NCF2","chr1",183543728,183543728,"NM_000433","G","A","nonsynonymous SNV","SNM","D","D","P","c.C395T","p.A132V;NCF2","Tetratricopeptide-like helical domain",0.4636364,110,"NA","NA","NA","NA","NA","NA",0.4602978,806,"NA","NA","SOMATIC","Targeted_seq","NM_000433",0.934444489,0.3873205,2.8533939,"neutrophil cytosolic factor 2","NCF-2, NOXA2, P67-PHOX, P67PHOX","This gene encodes neutrophil cytosolic factor 2, the 67-kilodalton cytosolic subunit of the multi-protein NADPH oxidase complex found in neutrophils. This oxidase produces a burst of superoxide which is delivered to the lumen of the neutrophil phagosome. Mutations in this gene, as well as in other NADPH oxidase subunits, can result in chronic granulomatous disease, a disease that causes recurrent infections by catalase-positive organisms. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2010]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","FAP","chr2",163031416,163031416,"NM_001291807","C","T","nonsynonymous SNV","SNM","D","D","D","c.G1855A","p.G619S;FAP","Alpha/Beta hydrolase fold|Peptidase S9, prolyl oligopeptidase, catalytic domain",0.3675214,117,"NA","NA","NA","NA","NA","NA",0.45,520,"NA",566,"SOMATIC","Targeted_seq","NM_004460",1.216896807,0.5214055,1.972319,"fibroblast activation protein alpha","DPPIV, FAPA, FAPalpha, SIMP","The protein encoded by this gene is a homodimeric integral membrane gelatinase belonging to the serine protease family. It is selectively expressed in reactive stromal fibroblasts of epithelial cancers, granulation tissue of healing wounds, and malignant cells of bone and soft tissue sarcomas. This protein is thought to be involved in the control of fibroblast growth or epithelial-mesenchymal interactions during development, tissue repair, and epithelial carcinogenesis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","COL4A4","chr2",227920659,227920659,"NA","A","T","splicing","SNM","NA","NA","NA","NA","NA","NA",0.4342105,152,"NA","NA","NA","NA","NA","NA",0.2783083,733,0.006568144,1218,"SOMATIC","Targeted_seq","NM_000092",0.587974216,0.243824,1.3267755,"collagen type IV alpha 4 chain","CA44","This gene encodes one of the six subunits of type IV collagen, the major structural component of basement membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common promoter. Mutations in this gene are associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites are found in the 3' UTR. [provided by RefSeq, Jul 2008]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","PCDHB2","chr5",140475593,140475593,"NM_018936","A","T","nonsynonymous SNV","SNM","D","B","B","c.A1219T","p.I407L","Cadherin|Cadherin-like",0.1861702,188,"NA","NA","NA","NA","NA","NA",0.1818182,121,"NA","NA","SOMATIC","Targeted_seq","NM_018936",2.436059864,1.079142,6.369904,"protocadherin beta 2","PCDH-BETA2","This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MEN1","chr11",64572060,64572060,"NM_000244","G","A","stopgain","SNM","NA","NA","NA","c.C1594T","p.R532X;MEN1","NA",0.7931034,58,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ATM","chr11",108224531,108224531,"NM_000051","G","C","nonsynonymous SNV","SNM","D","D","D","c.G8710C","p.E2904Q","Phosphatidylinositol 3-/4-kinase, catalytic domain|Protein kinase-like domain",0.7804878,82,"NA","NA","NA","NA","NA","NA",0.818872,922,0.003490401,2296,"SOMATIC","Targeted_seq","NM_000051",4.710125057,4.3111005,7.2509602,"ATM serine/threonine kinase","AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1","The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","KIF21A","chr12",39760898,39760898,"NM_001173463","G","C","nonsynonymous SNV","SNM","D","D","D","c.C669G","p.S223R;KIF21A","Kinesin motor domain|P-loop containing nucleoside triphosphate hydrolase",0.4772727,132,"NA","NA","NA","NA","NA","NA",0.4926645,2113,0.004834511,2689,"SOMATIC","Targeted_seq & RNAseq","NM_001173463",8.422660227,7.2151625,16.4296349,"kinesin family member 21A","CFEOM1, FEOM1, FEOM3A","This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","OAS2","chr12",113444347,113444347,"NM_002535","G","A","nonsynonymous SNV","SNM","D","P","B","c.G1598A","p.R533H;OAS2","-5&apos;-oligoadenylate synthetase 1, domain 2/C-terminal;-oligoadenylate synthetase 1, domain 2/C-terminal|2&apos;2&apos",0.5284553,123,"NA","NA","NA","NA","NA","NA",0.4277778,1440,"NA",2028,"SOMATIC","Targeted_seq","NM_016817",1.491886125,0.5968435,2.1998789,"2'-5'-oligoadenylate synthetase 2",null,"This gene encodes a member of the 2-5A synthetase family, essential proteins involved in the innate immune response to viral infection. The encoded protein is induced by interferons and uses adenosine triphosphate in 2'-specific nucleotidyl transfer reactions to synthesize 2',5'-oligoadenylates (2-5As). These molecules activate latent RNase L, which results in viral RNA degradation and the inhibition of viral replication. The three known members of this gene family are located in a cluster on chromosome 12. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","AXIN1","chr16",347114,347114,"NM_003502","T","C","nonsynonymous SNV","SNM","T","B","B","c.A1897G","p.M633V;AXIN1","NA",0.4125874,143,"NA","NA","NA","NA","NA","NA",0.4363636,55,"NA",2508,"SOMATIC","Targeted_seq & RNAseq","NM_003502",3.865347364,3.6696335,5.962372,"axin 1","AXIN, PPP1R49","This gene encodes a cytoplasmic protein which contains a regulation of G-protein signaling (RGS) domain and a dishevelled and axin (DIX) domain. The encoded protein interacts with adenomatosis polyposis coli, catenin beta-1, glycogen synthase kinase 3 beta, protein phosphate 2, and itself. This protein functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway and can induce apoptosis. The crystal structure of a portion of this protein, alone and in a complex with other proteins, has been resolved. Mutations in this gene have been associated with hepatocellular carcinoma, hepatoblastomas, ovarian endometriod adenocarcinomas, and medullablastomas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","WSCD1","chr17",6023857,6023857,"NM_015253","C","G","nonsynonymous SNV","SNM","D","B","B","c.C1604G","p.S535C","P-loop containing nucleoside triphosphate hydrolase",0.2626263,198,"NA","NA","NA","NA","NA","NA",0.3982839,2797,0.001988072,4199,"SOMATIC","Targeted_seq","NM_015253",4.066686773,2.437261,8.1063017,"WSC domain containing 1","mKIAA0523",null,"NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","TTC25","chr17",40101472,40101472,"NA","G","C","nonsynonymous SNV","SNM","NA","D","P","NA","NA","Tetratricopeptide repeat-containing domain|Tetratricopeptide-like helical domain",0.3409091,44,"NA","NA","NA","NA","NA","NA",0.4461538,325,0.009419152,640,"SOMATIC","Targeted_seq","NM_031421",1.785566136,1.62006,2.8698677,"tetratricopeptide repeat domain 25",null,"This gene encodes a tetratricopeptide repeat domain-containing protein that localizes to ciliary axonmenes and plays a role in the docking of the outer dynein arm to cilia. Mutations in this gene cause severely reduced ciliary motility and the disorder CILD35 (ciliary dyskinesia,primary, 35). Primary ciliary dyskinesia is often associated with recurrent respiratory infections, immotile spermatozoa, and situs inversus; an inversion in left-right body symmetry. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]","NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","DOT1L","chr19",2213971,2213971,"NM_032482","C","T","stopgain","SNM","NA","NA","NA","c.C1783T","p.Q595X","NA",0.2446043,139,"NA","NA","NA","NA","NA","NA",0.3453608,194,"NA",232,"SOMATIC","Targeted_seq","NM_032482",3.56458675,3.072434,5.901535,"DOT1 like histone lysine methyltransferase","DOT1, KMT4","The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]","Meth"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","EDA","chrX",69247835,69247835,"NM_001005609","C","G","nonsynonymous SNV","SNM","D","D","D","c.C655G","p.P219A;EDA","NA",0.4042553,94,"NA","NA","NA","NA","NA","NA",0.48,75,"NA","NA","SOMATIC","Targeted_seq","NM_001399",1.123666091,0.2772985,4.1316342,"ectodysplasin-A","EDA1, Ed1, Eda-A1, Eda-A2, HED, Ta, Tnlg7c, XLHED, tabby",null,"NA"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","EDA","chrX",69247836,69247836,"NM_001005609","C","T","nonsynonymous SNV","SNM","D","D","D","c.C656T","p.P219L;EDA","NA",0.4042553,94,"NA","NA","NA","NA","NA","NA",0.48,75,"NA",124,"SOMATIC","Targeted_seq","NM_001399",1.123666091,0.2772985,4.1316342,"ectodysplasin-A","EDA1, Ed1, Eda-A1, Eda-A2, HED, Ta, Tnlg7c, XLHED, tabby",null,"NA"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","SUSD5","chr3",33194239,33194239,"NM_015551","C","T","nonsynonymous SNV","SNM","D","D","P","c.G1885A","p.V629I","NA",0.2857143,133,"NA","NA","NA","NA","NA","NA",0.4205817,1341,0.01537071,1111,"SOMATIC","Targeted_seq","NM_015551",1.728648591,0.5353985,5.6216393,"sushi domain containing 5","Gm1126",null,"NA"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","RFESD","chr5",94989901,94989901,"NM_173362","C","G","nonsynonymous SNV","SNM","D","D","D","c.C136G","p.H46D;RFESD","Rieske [2Fe-2S] iron-sulphur domain",0.4306569,137,"NA","NA","NA","NA","NA","NA",0.5240642,187,0.0183727,381,"SOMATIC","Targeted_seq & RNAseq","NM_001131066",0.943492557,0.82329,1.5970405,"Rieske (Fe-S) domain containing","AI256775, D030068K09",null,"NA"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","TMEM71","chr8",133769531,133769531,"NM_001145153","C","A","nonsynonymous SNV","SNM","D","P","P","c.G50T","p.R17M;TMEM71","NA",0.256,125,"NA","NA","NA","NA","NA","NA",0.239925,2134,"NA",300,"SOMATIC","Targeted_seq","NM_144649",0.233998034,0.154304,0.5596422,"transmembrane protein 71","AI661017, E430024D12",null,"NA"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","UNC13B","chr9",35398974,35398974,"NM_006377","C","T","nonsynonymous SNV","SNM","T","B","B","c.C3770T","p.S1257L","NA",0.4354839,310,"NA","NA","NA","NA","NA","NA",0.4063898,3130,0.0137931,870,"SOMATIC","Targeted_seq & RNAseq","NM_006377",20.75001376,17.4406495,40.1965702,"unc-13 homolog B","Munc13-1, Munc13-2, Unc13a, Unc13h1, Unc13h2",null,"NA"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MEN1","chr11",64575482,64575485,"NM_000244","CAGA","-","frameshift deletion","DEL","NA","NA","NA","c.547_550del","p.S183fs;MEN1","NA",0.7026022,269,"NA","NA","NA","NA","NA","NA",0.7001174,3408,0.02037075,4918,"SOMATIC","Targeted_seq & RNAseq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ACAN","chr15",89400039,89400039,"NM_001135","A","G","nonsynonymous SNV","SNM","T","B","B","c.A4223G","p.E1408G;ACAN","NA",0.4210526,19,"NA","NA","NA","NA","NA","NA",0.01140834,2542,"NA",1456,"SOMATIC","Targeted_seq","NM_013227",0.527008295,0.1121845,1.0377776,"aggrecan","AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD","This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]","NA"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ZFP36","chr19",39898416,39898416,"NM_003407","C","G","nonsynonymous SNV","SNM","NA","B","B","c.C76G","p.P26A","NA",0.4577465,142,"NA","NA","NA","NA","NA","NA",0.59726,9197,0.01440419,2291,"SOMATIC","Targeted_seq & RNAseq","NM_003407",71.60393349,33.344096,181.1446679,"ZFP36 ring finger protein","G0S24, GOS24, NUP475, RNF162A, TIS11, TTP, zfp-36",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","TNR","chr1",175363032,175363032,"NA","C","T","splicing","SNM","NA","NA","NA","NA","NA","NA",0.4110169,236,"NA","NA","NA","NA","NA","NA",0.5130941,2062,"NA","NA","SOMATIC","Targeted_seq","NM_003285",6.874115034,2.176793,17.9713231,"tenascin R","J1-tenascin, TN-R, janusin, restrictin",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","NMNAT2","chr1",183247718,183247718,"NM_015039","G","C","nonsynonymous SNV","SNM","D","D","D","c.C621G","p.F207L;NMNAT2","Cytidyltransferase-like domain|Rossmann-like alpha/beta/alpha sandwich fold",0.2491228,285,"NA","NA","NA","NA","NA","NA",0.2765252,1508,"NA",867,"SOMATIC","Targeted_seq","NM_015039",8.51790525,5.5011285,19.4875833,"nicotinamide nucleotide adenylyltransferase 2","C1orf15, PNAT2","This gene product belongs to the nicotinamide mononucleotide adenylyltransferase (NMNAT) enzyme family, members of which catalyze an essential step in NAD (NADP) biosynthetic pathway. Unlike the other human family member, which is localized to the nucleus, and is ubiquitously expressed; this enzyme is cytoplasmic, and is predominantly expressed in the brain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","HLX","chr1",221053402,221053402,"NM_021958","C","T","nonsynonymous SNV","SNM","D","D","P","c.C203T","p.S68L","NA",0.2972973,37,"NA","NA","NA","NA","NA","NA",0.3387097,62,"NA",74,"SOMATIC","Targeted_seq","NM_021958",1.833317511,1.5114045,3.1529835,"H2.0 like homeobox","HB24, HLX1",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ALMS1","chr2",73659363,73659363,"NM_015120","G","A","nonsynonymous SNV","SNM","NA","D","D","c.G1376A","p.R459K","NA",0.3380282,71,"NA","NA","NA","NA","NA","NA",0.3273616,614,"NA",284,"SOMATIC","Targeted_seq & RNAseq","NM_015120",2.071518841,2.0141775,3.1722747,"ALMS1, centrosome and basal body associated protein","ALSS","This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ZEB2","chr2",145147158,145147158,"NM_001171653","T","G","nonsynonymous SNV","SNM","D","D","P","c.A3433C","p.N1145H;ZEB2","NA",0.3152174,92,"NA","NA","NA","NA","NA","NA",0.4091986,10132,"NA",11796,"SOMATIC","Targeted_seq","NM_014795",2.130888614,1.7809615,4.6358421,"zinc finger E-box binding homeobox 2","HSPC082, SIP-1, SIP1, SMADIP1, ZFHX1B","The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","COBLL1","chr2",165578673,165578673,"NM_001278461","G","A","nonsynonymous SNV","SNM","D","D","D","c.C908T","p.S303F;COBLL1","NA",0.3483871,155,"NA","NA","NA","NA","NA","NA",0.3540773,4194,"NA","NA","SOMATIC","Targeted_seq & RNAseq","NM_014900",6.76323442,5.3060425,14.9457453,"cordon-bleu WH2 repeat protein like 1","COBLR1",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ITPR1","chr3",4817118,4817118,"NM_002222","G","T","stopgain","SNM","NA","NA","NA","c.G5983T","p.E1995X;ITPR1","Armadillo-type fold|RyR/IP3R Homology associated domain",0.2463768,69,"NA","NA","NA","NA","NA","NA",0.3893443,244,"NA",202,"SOMATIC","Targeted_seq & RNAseq","NM_001099952",2.159087818,0.923143,5.4176919,"inositol 1,4,5-trisphosphate receptor 1","D6Pas2, Gm10429, IP3R 1, IP3R1, InsP3R, Ip3r, Itpr-1, P400, Pcp-1, Pcp1, insP3R1, opt, wblo",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","CMTM7","chr3",32483504,32483504,"NM_138410","C","T","nonsynonymous SNV","SNM","D","P","B","c.C332T","p.S111L;CMTM7","Marvel domain",0.255814,129,"NA","NA","NA","NA","NA","NA",0.3402985,13735,"NA",15702,"SOMATIC","Targeted_seq & RNAseq","NM_138410",2.175807591,1.3764605,4.3985198,"CKLF like MARVEL transmembrane domain containing 7","CKLFSF7","This gene belongs to the chemokine-like factor gene superfamily, a novel family that is similar to the chemokine and transmembrane 4 superfamilies. This gene is one of several chemokine-like factor genes located in a cluster on chromosome 3. This gene acts as a tumor suppressor that regulates G1/S transition in the cell cycle, and epidermal growth factor receptor/protein kinase B signaling during tumor pathogenesis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","BAP1","chr3",52436617,52436617,"NA","C","T","splicing","SNM","NA","NA","NA","NA","NA","NA",0.52,250,"NA","NA","NA","NA","NA","NA",0.5005612,891,"NA","NA","SOMATIC","Targeted_seq & RNAseq","NM_004656",15.75660484,16.106793,21.2315348,"BRCA1 associated protein 1","HUCEP-13, UCHL2, hucep-6","This gene belongs to the ubiquitin C-terminal hydrolase subfamily of deubiquitinating enzymes that are involved in the removal of ubiquitin from proteins. The encoded enzyme binds to the breast cancer type 1 susceptibility protein (BRCA1) via the RING finger domain of the latter and acts as a tumor suppressor. In addition, the enzyme may be involved in regulation of transcription, regulation of cell cycle and growth, response to DNA damage and chromatin dynamics. Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS), which involves increased risk of cancers including malignant mesothelioma, uveal melanoma and cutaneous melanoma. [provided by RefSeq, May 2013]","Polycomb"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ZBTB11","chr3",101384632,101384632,"NM_014415","G","A","nonsynonymous SNV","SNM","D","D","D","c.C799T","p.L267F","BTB/POZ domain|SKP1/BTB/POZ domain",0.247619,105,"NA","NA","NA","NA","NA","NA",0.2788462,208,"NA",86,"SOMATIC","Targeted_seq & RNAseq","NM_014415",6.189694295,6.0727495,8.5739679,"zinc finger and BTB domain containing 11","9230110G02Rik, ZNF-U69274",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","MYLK","chr3",123401074,123401074,"NM_053026","C","T","nonsynonymous SNV","SNM","D","D","D","c.G3442A","p.E1148K;MYLK","Immunoglobulin I-set|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold",0.2692308,130,"NA","NA","NA","NA","NA","NA",0.263658,2105,"NA",3543,"SOMATIC","Targeted_seq & RNAseq","NM_053032",6.028741216,3.9213315,12.4485948,"myosin light chain kinase","AAT7, KRP, MLCK, MLCK1, MLCK108, MLCK210, MSTP083, MYLK1, smMLCK","This gene, a muscle member of the immunoglobulin gene superfamily, encodes myosin light chain kinase which is a calcium/calmodulin dependent enzyme. This kinase phosphorylates myosin regulatory light chains to facilitate myosin interaction with actin filaments to produce contractile activity. This gene encodes both smooth muscle and nonmuscle isoforms. In addition, using a separate promoter in an intron in the 3' region, it encodes telokin, a small protein identical in sequence to the C-terminus of myosin light chain kinase, that is independently expressed in smooth muscle and functions to stabilize unphosphorylated myosin filaments. A pseudogene is located on the p arm of chromosome 3. Four transcript variants that produce four isoforms of the calcium/calmodulin dependent enzyme have been identified as well as two transcripts that produce two isoforms of telokin. Additional variants have been identified but lack full length transcripts. [provided by RefSeq, Jul 2008]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ACAP2","chr3",195016517,195016517,"NM_012287","G","C","nonsynonymous SNV","SNM","D","B","B","c.C1592G","p.S531C","NA",0.2741935,62,"NA","NA","NA","NA","NA","NA",0.2664016,1509,"NA",1016,"SOMATIC","Targeted_seq & RNAseq","NM_012287",8.284998239,7.72912,12.1498242,"ArfGAP with coiled-coil, ankyrin repeat and PH domains 2","CENTB2, CNT-B2",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","CENPE","chr4",104055007,104055007,"NM_001286734","C","T","nonsynonymous SNV","SNM","D","B","B","c.G6202A","p.E2068K;CENPE","NA",0.3548387,31,"NA","NA","NA","NA","NA","NA",0.3093434,1584,"NA",2263,"SOMATIC","Targeted_seq","NM_001813",1.0241695,0.7053355,2.1561262,"centromere protein E","CENP-E, KIF10, MCPH13, PPP1R61","Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ABHD18","chr4",128949897,128949897,"NM_001039717","C","T","stopgain","SNM","NA","NA","NA","c.C967T","p.Q323X","Alpha/Beta hydrolase fold",0.3064516,62,"NA","NA","NA","NA","NA","NA",0.320038,1053,"NA",735,"SOMATIC","Targeted_seq & RNAseq","NM_001039717",2.165456795,2.256344,3.2506607,"abhydrolase domain containing 18","2310068E01Rik, 3110057O12Rik, AI645591",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","DGKB","chr7",14722244,14722244,"NM_004080","C","G","nonsynonymous SNV","SNM","T","P","P","c.G969C","p.K323N;DGKB","Protein kinase C-like, phorbol ester/diacylglycerol-binding domain",0.2882206,399,"NA","NA","NA","NA","NA","NA",0.3802817,6106,"NA",8721,"SOMATIC","Targeted_seq","NM_004080",2.895548761,0.0390025,6.4699464,"diacylglycerol kinase beta","DAGK2, DGK, DGK-BETA","Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","KMT2C","chr7",151873843,151873843,"NM_170606","G","A","stopgain","SNM","NA","NA","NA","c.C8695T","p.Q2899X","NA",0.3522727,88,"NA","NA","NA","NA","NA","NA",0.3244681,188,"NA",144,"SOMATIC","Targeted_seq & RNAseq","NM_170606",5.875172432,5.762651,9.0168977,"lysine methyltransferase 2C","HALR, KLEFS2, MLL3","This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone methylation activity and is involved in transcriptional coactivation. [provided by RefSeq, Jul 2008]","Meth"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","LYN","chr8",56864535,56864538,"NM_001111097","TCTG","-","frameshift deletion","DEL","NA","NA","NA","c.435_438del","p.S145fs;LYN","NA",0.3170732,82,"NA","NA","NA","NA","NA","NA",0.3641221,1310,0.001901141,1057,"SOMATIC","Targeted_seq & RNAseq","NM_002350",2.40517833,1.5684895,4.1554224,"LYN proto-oncogene, Src family tyrosine kinase","JTK8, p53Lyn, p56Lyn","This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","LYN","chr8",56879274,56879274,"NM_001111097","G","T","nonsynonymous SNV","SNM","D","D","D","c.G728T","p.G243V;LYN","Protein kinase domain|Protein kinase, ATP binding site|Protein kinase-like domain|SH2 domain|Serine-threonine/tyrosine-protein kinase catalytic domain|Tyrosine-protein kinase, catalytic domain;Protein kinase-like domain|SH2 domain",0.4035088,57,"NA","NA","NA","NA","NA","NA",0.3470055,3974,"NA",3916,"SOMATIC","Targeted_seq & RNAseq","NM_002350",2.40517833,1.5684895,4.1554224,"LYN proto-oncogene, Src family tyrosine kinase","JTK8, p53Lyn, p56Lyn","This gene encodes a tyrosine protein kinase, which maybe involved in the regulation of mast cell degranulation, and erythroid differentiation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","CDH17","chr8",95178142,95178142,"NM_001144663","G","C","nonsynonymous SNV","SNM","D","B","B","c.C1129G","p.L377V;CDH17","Cadherin|Cadherin-like",0.3587786,131,"NA","NA","NA","NA","NA","NA",0.3774846,5836,"NA",6472,"SOMATIC","Targeted_seq","NM_004063",16.24163633,2.000891,53.4389114,"cadherin 17","CDH16, HPT-1, HPT1","This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. The encoded protein is cadherin-like, consisting of an extracellular region, containing 7 cadherin domains, and a transmembrane region but lacking the conserved cytoplasmic domain. The protein is a component of the gastrointestinal tract and pancreatic ducts, acting as an intestinal proton-dependent peptide transporter in the first step in oral absorption of many medically important peptide-based drugs. The protein may also play a role in the morphological organization of liver and intestine. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2009]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","JMJD1C","chr10",64973400,64973400,"NM_001282948","G","C","nonsynonymous SNV","SNM","D","P","B","c.C1981G","p.H661D;JMJD1C","NA",0.2928571,280,"NA","NA","NA","NA","NA","NA",0.3726177,2571,"NA",2111,"SOMATIC","Targeted_seq & RNAseq","NM_032776",6.450278148,6.372355,9.7053227,"jumonji domain containing 1C","KDM3C, TRIP-8, TRIP8","The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","Demeth"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","SLF2","chr10",102684245,102684245,"NM_001136123","T","-","frameshift deletion","DEL","NA","NA","NA","c.1487delT","p.L496fs;SLF2","NA",0.3469388,49,"NA","NA","NA","NA","NA","NA",0.3497758,2899,"NA",4551,"SOMATIC","Targeted_seq & RNAseq","NM_018121",4.654465341,4.5472175,7.3298174,"SMC5-SMC6 complex localization factor 2","C10orf6, FAM178A",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","KMT2D","chr12",49426667,49426667,"NM_003482","G","A","stopgain","SNM","NA","NA","NA","c.C11821T","p.Q3941X","NA",0.2439024,41,"NA","NA","NA","NA","NA","NA",0.2011683,2739,"NA",4766,"SOMATIC","Targeted_seq & RNAseq","NM_003482",4.330660966,4.435724,6.4827586,"lysine methyltransferase 2D","AAD10, ALR, CAGL114, KABUK1, KMS, MLL2, MLL4, TNRC21","The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome. [provided by RefSeq, Oct 2010]","Meth"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","LETMD1","chr12",51442961,51442961,"NM_001243689","C","A","nonsynonymous SNV","SNM","D","D","D","c.C267A","p.F89L;LETMD1","LETM1-like;LETM1-like|Letm1 ribosome-binding domain;Letm1 ribosome-binding domain",0.2957746,71,"NA","NA","NA","NA","NA","NA",0.3472367,1918,"NA",1420,"SOMATIC","Targeted_seq & RNAseq","NR_045020",19.3383279,18.1909905,30.3657146,"LETM1 domain containing 1","1110019O13Rik, HCCR, HCCR-1, HCCR-2, HCCR1, HCCR2, HCRR-2, SLC55A3","This gene encodes a mitochondrial outer membrane protein. It has a potential role in tumorigenesis, which may result from negative regulation of the p53 tumor suppressor gene. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Aug 2011]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","RARG","chr12",53606878,53606879,"NM_001243732","TG","-","frameshift deletion","DEL","NA","NA","NA","c.1101_1102del","p.I367fs;RARG","NA",0.3592233,103,"NA","NA","NA","NA","NA","NA",0.3956044,91,"NA",64,"SOMATIC","Targeted_seq","NM_000966",2.439070341,1.2751375,6.2066981,"retinoic acid receptor, gamma","Nr1b3, RAR-gamma, RARD, RARgamma2",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","RARG","chr12",53606882,53606887,"NM_001243732","GCCCCG","-","nonframeshift deletion","DEL","NA","NA","NA","c.1093_1098del","p.365_366del;RARG","NA",0.3737374,99,"NA","NA","NA","NA","NA","NA",0.3863636,88,"NA",64,"SOMATIC","Targeted_seq","NM_000966",2.439070341,1.2751375,6.2066981,"retinoic acid receptor, gamma","Nr1b3, RAR-gamma, RARD, RARgamma2",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ATXN3","chr14",92537354,92537354,"NM_001164782","-","CTGCTGCTGCTGCTGCTG","nonframeshift insertion","INS","NA","NA","NA","c.67_68insCAGCAGCAGCAGCAGCAG","p.G23delinsAAAAAAG;ATXN3","NA",0.2588235,170,"NA","NA","NA","NA","NA","NA",0.127451,204,"NA",173,"SOMATIC","Targeted_seq","NM_004993",1.899982239,1.8684575,2.7107574,"ataxin 3","AT3, ATX3, JOS, MJD, MJD1, SCA3","Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","SIN3A","chr15",75682037,75682051,"NM_001145357","TGTAGGCATGAATGG","-","nonframeshift deletion","DEL","NA","NA","NA","c.2963_2977del","p.988_993del;SIN3A","NA",0.22,250,"NA","NA","NA","NA","NA","NA",0.3391114,5019,"NA",5960,"SOMATIC","Targeted_seq & RNAseq","NM_001145358",5.364456875,5.3105635,10.5502215,"SIN3 transcription regulator family member A","WITKOS","The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","ABCA3","chr16",2331473,2331473,"NM_001089","T","A","nonsynonymous SNV","SNM","D","B","B","c.A4073T","p.D1358V","NA",0.3357143,140,"NA","NA","NA","NA","NA","NA",0.3637638,5707,"NA","NA","SOMATIC","Targeted_seq & RNAseq","NM_001089",20.50574718,17.5784425,34.6932245,"ATP binding cassette subfamily A member 3","ABC-C, ABC3, EST111653, LBM180, SMDP3","The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","GLYR1","chr16",4873841,4873841,"NM_001308096","C","T","stopgain","SNM","NA","NA","NA","c.G605A","p.W202X;GLYR1","NA",0.3238095,105,"NA","NA","NA","NA","NA","NA",0.3140376,691,"NA",847,"SOMATIC","Targeted_seq & RNAseq","NM_032569",30.78684149,30.6888045,41.40428,"glyoxylate reductase 1 homolog","BM045, HIBDL, N-PAC, NP60",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","PYCARD","chr16",31213912,31213912,"NM_013258","C","G","nonsynonymous SNV","SNM","T","D","P","c.G100C","p.E34Q;PYCARD","DAPIN domain|Death-like domain",0.3931034,145,"NA","NA","NA","NA","NA","NA",0.2859712,1112,"NA",825,"SOMATIC","Targeted_seq & RNAseq","NM_013258",9.69649117,7.027257,19.3529166,"PYD and CARD domain containing","9130417A21Rik, Asc, CARD5, TMS-1, TNS1, masc",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","DNAH9","chr17",11725263,11725263,"NM_001372","G","C","nonsynonymous SNV","SNM","D","D","D","c.G8734C","p.D2912H","AAA+ ATPase domain|Dynein heavy chain, P-loop containing D4 domain|P-loop containing nucleoside triphosphate hydrolase",0.382716,81,"NA","NA","NA","NA","NA","NA",0.3443192,1153,"NA",774,"SOMATIC","Targeted_seq","NM_001372",0.139768693,0.076584,0.3691287,"dynein axonemal heavy chain 9","DNAH17L, DNEL1, DYH9, Dnahc9, HL-20, HL20","This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","MYO19","chr17",34869327,34869327,"NM_001033580","C","T","nonsynonymous SNV","SNM","NA","B","B","c.G839A","p.R280K;MYO19","Myosin head, motor domain|P-loop containing nucleoside triphosphate hydrolase",0.2631579,209,"NA","NA","NA","NA","NA","NA",0.3728103,4053,"NA",4694,"SOMATIC","Targeted_seq","NM_001163735",3.909669136,3.491959,6.4845154,"myosin XIX","MYOHD1",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","SPTBN4","chr19",40996112,40996112,"NM_020971","G","A","nonsynonymous SNV","SNM","D","P","P","c.G452A","p.R151Q","Actinin-type actin-binding domain, conserved site|Calponin homology domain",0.2966752,391,"NA","NA","NA","NA","NA","NA",0.3504075,2577,"NA",1204,"SOMATIC","Targeted_seq","NM_025213",4.68202283,4.251698,8.3871237,"spectrin beta, non-erythrocytic 4","1700022P15Rik, 5830426A08Rik, ROSA62, SpbIV, Spnb4, dyn, lnd, nmf261, nmf379, qv",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","LILRA6;LILRB3","chr19",54745969,54745969,"NM_001081450","G","T","stopgain","SNM","NA","NA","NA","c.C288A","p.Y96X;LILRB3","Immunoglobulin subtype|Immunoglobulin subtype 2|Immunoglobulin-like domain|Immunoglobulin-like fold;Immunoglobulin-like domain|Immunoglobulin-like fold",0.03225806,465,"NA","NA","NA","NA","NA","NA",0.146881,19349,"NA",16350,"SOMATIC","Targeted_seq","NM_006864",0.289983818,0.194545,0.6656363,"leukocyte immunoglobulin like receptor A6","CD85b, ILT-8, ILT5, ILT8, LILRB3, LILRB6",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","NINL","chr20",25470566,25470566,"NM_025176","G","A","nonsynonymous SNV","SNM","T","D","D","c.C1541T","p.S514L","NA",0.3434343,198,"NA","NA","NA","NA","NA","NA",0.3558215,1838,"NA",1143,"SOMATIC","Targeted_seq & RNAseq","NM_025176",3.162303477,3.042434,5.7979306,"ninein like","NLP",null,"NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","KDM5C","chrX",53239747,53239747,"NM_001146702","T","C","nonsynonymous SNV","SNM","D","D","D","c.A1394G","p.K465R;KDM5C","JmjC domain",0.6118421,152,"NA","NA","NA","NA","NA","NA",0.7188612,2810,"NA",3094,"SOMATIC","Targeted_seq","NM_004187",14.19450091,13.858604,20.5394371,"lysine demethylase 5C","DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169","This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]","Demeth"]
["LNEN003","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","NASP","chr1",46081064,46081068,"NM_001195193","AAATT","-","frameshift deletion","DEL","NA","NA","NA","c.1751_1755del","p.E584fs;NASP","NA",0.05714286,175,"NA","NA","NA","NA","NA","NA",0.0952381,210,"NA",137,"SOMATIC","Targeted_seq","NM_152298",17.59168881,17.39348,23.7520066,"nuclear autoantigenic sperm protein","FLB7527, HMDRA1, PRO1999","This gene encodes a H1 histone binding protein that is involved in transporting histones into the nucleus of dividing cells. Multiple isoforms are encoded by transcript variants of this gene. The somatic form is expressed in all mitotic cells, is localized to the nucleus, and is coupled to the cell cycle. The testicular form is expressed in embryonic tissues, tumor cells, and the testis. In male germ cells, this protein is localized to the cytoplasm of primary spermatocytes, the nucleus of spermatids, and the periacrosomal region of mature spermatozoa. [provided by RefSeq, Jul 2008]","NA"]
["LNEN003","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","ARID2","chr12",46244071,46244071,"NM_152641","C","-","frameshift deletion","DEL","NA","NA","NA","c.2165delC","p.S722fs","NA",0.06730769,104,"NA","NA","NA","NA","NA","NA",0.0507973,6083,"NA",647,"SOMATIC","Targeted_seq","NM_152641",4.476334636,4.2358595,6.7407799,"AT-rich interaction domain 2","BAF200, CSS6, p200","This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]","SWI.SNF"]
["LNEN003","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","SLITRK5","chr13",88327994,88327994,"NM_015567","C","G","nonsynonymous SNV","SNM","D","B","B","c.C351G","p.I117M","Leucine-rich repeat domain, L domain-like",0.1797753,89,"NA","NA","NA","NA","NA","NA",0.1647532,1742,"NA",1028,"SOMATIC","Targeted_seq","NM_015567",1.747457216,0.084097,4.1609555,"SLIT and NTRK like family member 5","LRRC11, bA364G4.2","Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]","NA"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","ARID1A","chr1",27057643,27057643,"NM_006015","-","TTCCTCCT","frameshift insertion","INS","NA","NA","NA","c.1351_1352insTTCCTCCT","p.I451fs;ARID1A","NA",0.2962963,135,"NA","NA","NA","NA","NA","NA",0.2635634,3115,"NA","NA","SOMATIC","Targeted_seq","NM_006015",10.4423938,10.361501,18.3203589,"AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","CSMD2","chr1",34276424,34276424,"NM_001281956","T","C","nonsynonymous SNV","SNM","T","D","D","c.A1366G","p.I456V;CSMD2","CUB domain",0.4610778,167,"NA","NA","NA","NA","NA","NA",0.3785266,1276,"NA","NA","SOMATIC","Targeted_seq","NM_052896",0.469068125,0.222495,1.2113438,"CUB and Sushi multiple domains 2","dJ1007G16.1, dJ1007G16.2, dJ947L8.1","The protein encoded by this gene is thought to be involved in the control of complement. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Mar 2017]","NA"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","ZNF141","chr4",367484,367484,"NM_003441","G","A","nonsynonymous SNV","SNM","D","P","B","c.G1258A","p.D420N","Zinc finger C2H2-type/integrase DNA-binding domain|Zinc finger, C2H2",0.44,100,"NA","NA","NA","NA","NA","NA",0.3262411,1551,"NA","NA","SOMATIC","Targeted_seq","NM_003441",2.598771352,2.6171215,4.8541712,"zinc finger protein 141","D4S90, pHZ-44","The protein encoded by this gene is a zinc finger protein that may be a tumor suppressor. Defects in this gene have been associated with autosomal recessive postaxial polydactyly type A. [provided by RefSeq, Jan 2017]","NA"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","MAP1B","chr5",71492462,71492462,"NM_005909","T","G","nonsynonymous SNV","SNM","D","P","B","c.T3280G","p.S1094A","NA",0.44,150,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_005909",25.44376394,22.4179605,50.3479168,"microtubule-associated protein 1B","A230055D22, AI843217, LC1, MAP5, Mtap-5, Mtap1b, Mtap5",null,"NA"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","ZNF727","chr7",63538887,63538887,"NM_001159522","A","T","nonsynonymous SNV","SNM","NA","D","B","c.A1460T","p.K487M","NA",0.5733333,75,"NA","NA","NA","NA","NA","NA",0.5127841,1408,"NA","NA","SOMATIC","Targeted_seq","NM_001159522",1.576223216,0.994497,3.8127597,"zinc finger protein 727","ZNF727P",null,"NA"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","SMARCA2","chr9",2123936,2123936,"NM_001289396","G","A","nonsynonymous SNV","SNM","T","B","B","c.G3980A","p.R1327K;SMARCA2","NA",0.4360465,172,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_139045",18.20110826,18.144131,25.6268749,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2","BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a","The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]","SWI.SNF"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","MEN1","chr11",64577448,64577448,"NM_000244","T","A","nonsynonymous SNV","SNM","D","D","D","c.A134T","p.E45V;MEN1","NA",0.7583893,149,"NA","NA","NA","NA","NA","NA",0.9394279,1783,"NA","NA","SOMATIC","Targeted_seq & RNAseq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","TSC22D1","chr13",45147415,45147417,"NM_183422","ACT","-","nonframeshift deletion","DEL","NA","NA","NA","c.2794_2796del","p.932_932del","NA",0.4535519,183,"NA","NA","NA","NA","NA","NA",0.3052,2500,"NA","NA","SOMATIC","Targeted_seq & RNAseq","NM_006022",51.69855624,50.5512035,85.6440419,"TSC22 domain family member 1","Ptg-2, TGFB1I4, TSC22","This gene encodes a member of the TSC22 domain family of leucine zipper transcription factors. The encoded protein is stimulated by transforming growth factor beta, and regulates the transcription of multiple genes including C-type natriuretic peptide. The encoded protein may play a critical role in tumor suppression through the induction of cancer cell apoptosis, and a single nucleotide polymorphism in the promoter of this gene has been associated with diabetic nephropathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","HADHA","chr2",26424130,26424130,"NM_000182","C","G","nonsynonymous SNV","SNM","T","P","B","c.G1280C","p.S427T","3-hydroxyacyl-CoA dehydrogenase, NAD binding|NAD(P)-binding domain",0.52,125,"NA","NA","NA","NA","NA","NA",0.451489,7287,"NA",2488,"SOMATIC","Targeted_seq & RNAseq","NM_000182",61.71851374,61.24589,81.6906636,"hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha","ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA","This gene encodes the alpha subunit of the mitochondrial trifunctional protein, which catalyzes the last three steps of mitochondrial beta-oxidation of long chain fatty acids. The mitochondrial membrane-bound heterocomplex is composed of four alpha and four beta subunits, with the alpha subunit catalyzing the 3-hydroxyacyl-CoA dehydrogenase and enoyl-CoA hydratase activities. Mutations in this gene result in trifunctional protein deficiency or LCHAD deficiency. The genes of the alpha and beta subunits of the mitochondrial trifunctional protein are located adjacent to each other in the human genome in a head-to-head orientation. [provided by RefSeq, Jul 2008]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","CNTNAP5","chr2",125367450,125367450,"NM_130773","A","G","nonsynonymous SNV","SNM","D","D","D","c.A1826G","p.D609G","Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain",0.5,78,"NA","NA","NA","NA","NA","NA",0.4673077,520,"NA",361,"SOMATIC","Targeted_seq","NM_130773",0.614045932,0.063733,1.5037001,"contactin associated protein like 5","caspr5","This gene product belongs to the neurexin family, members of which function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. [provided by RefSeq, Jul 2008]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","PCDH10","chr4",134071351,134071351,"NM_020815","A","G","nonsynonymous SNV","SNM","D","P","P","c.A56G","p.Q19R;PCDH10","Cadherin|Cadherin, N-terminal|Cadherin-like",0.4074074,108,"NA","NA","NA","NA","NA","NA",0.4651685,2225,"NA",2331,"SOMATIC","Targeted_seq","NM_032961",3.898301977,0.172902,10.1134831,"protocadherin 10","OL-PCDH, PCDH19","This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","DUSP22","chr6",304640,304640,"NM_001286555","C","A","nonsynonymous SNV","SNM","D","D","D","c.C34A","p.L12M;DUSP22","Dual specificity phosphatase, catalytic domain|Dual specificity protein phosphatase domain|Protein-tyrosine phosphatase-like",0.2440476,168,"NA","NA","NA","NA","NA","NA",0.2292264,349,"NA",254,"SOMATIC","Targeted_seq","NM_020185",8.996711284,7.589379,14.6958415,"dual specificity phosphatase 22","JKAP, JSP-1, JSP1, LMW-DSP2, LMWDSP2, MKP-x, MKPX, VHX",null,"NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MCM10","chr10",13234486,13234486,"NM_018518","A","T","nonsynonymous SNV","SNM","D","D","D","c.A1663T","p.I555F;MCM10","Replication factor Mcm10, C-terminal",0.01041667,384,"NA","NA","NA","NA","NA","NA",0.01612903,186,"NA",66,"SOMATIC","Targeted_seq","NM_018518",0.16552408,0.112865,0.3116417,"minichromosome maintenance 10 replication initiation factor","CNA43, DNA43, PRO2249","The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre-RC) and it may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein can interact with MCM2 and MCM6, as well as with the origin recognition protein ORC2. It is regulated by proteolysis and phosphorylation in a cell cycle-dependent manner. Studies of a similar protein in Xenopus suggest that the chromatin binding of this protein at the onset of DNA replication is after pre-RC assembly and before origin unwinding. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","MEN1","chr11",64572289,64572289,"NA","C","T","splicing","SNM","NA","NA","NA","NA","NA","NA",0.75,12,"NA","NA","NA","NA","NA","NA",0.9249084,546,"NA",258,"SOMATIC","Targeted_seq","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","CDKN1B","chr12",12870974,12870981,"NM_004064","CAAACCCC","-","frameshift deletion","DEL","NA","NA","NA","c.201_208del","p.H67fs","NA",0.1,30,"NA","NA","NA","NA","NA","NA",0.03255814,215,"NA",1822,"SOMATIC","Targeted_seq","NM_004064",30.1802442,32.0919525,44.1764852,"cyclin dependent kinase inhibitor 1B","CDKN4, KIP1, MEN1B, MEN4, P27KIP1","This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","ATG2B","chr14",96773188,96773188,"NM_018036","C","T","nonsynonymous SNV","SNM","D","D","P","c.G4369A","p.E1457K","NA",0.02155172,232,"NA","NA","NA","NA","NA","NA",0.03135889,1148,"NA",1003,"SOMATIC","Targeted_seq","NM_018036",4.924468625,4.949198,7.2550934,"autophagy related 2B","C14orf103","This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","TNRC6A","chr16",24802617,24802617,"NM_014494","C","T","nonsynonymous SNV","SNM","D","D","D","c.C2654T","p.S885F","NA",0.1272085,283,"NA","NA","NA","NA","NA","NA",0.1181868,7302,"NA",2538,"SOMATIC","Targeted_seq & RNAseq","NM_014494",8.990562216,8.894144,13.1183502,"trinucleotide repeat containing 6A","CAGH26, FAME6, GW1, GW182, TNRC6","This gene encodes a member of the trinucleotide repeat containing 6 protein family. The protein functions in post-transcriptional gene silencing through the RNA interference (RNAi) and microRNA pathways. The protein associates with messenger RNAs and Argonaute proteins in cytoplasmic bodies known as GW-bodies or P-bodies. Inhibiting expression of this gene delocalizes other GW-body proteins and impairs RNAi and microRNA-induced gene silencing. [provided by RefSeq, Jul 2008]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","PSMD7","chr16",74334032,74334032,"NM_002811","C","T","stopgain","SNM","NA","NA","NA","c.C94T","p.Q32X","JAB1/MPN/MOV34 metalloenzyme domain",0.3834586,133,"NA","NA","NA","NA","NA","NA",0.4699933,1483,"NA",1401,"SOMATIC","Targeted_seq & RNAseq","NM_002811",36.2976266,36.045491,45.0513909,"proteasome 26S subunit, non-ATPase 7","MOV34, P40, Rpn8, S12","The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","HGF","chr7",81381567,81381567,"NM_000601","G","A","nonsynonymous SNV","SNM","T","D","P","c.C494T","p.S165L;HGF","Kringle|Kringle-like fold",0.4947368,95,"NA","NA","NA","NA","NA","NA",0.4485333,1875,"NA",54,"SOMATIC","Targeted_seq","NM_000601",1.053756443,0.261548,1.5431165,"hepatocyte growth factor","DFNB39, F-TCF, HGFB, HPTA, SF","This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","FUT10","chr8",33310838,33310838,"NM_032664","G","A","nonsynonymous SNV","SNM","D","D","D","c.C272T","p.T91M","Fucosyltransferase, N-terminal",0.4460967,269,"NA","NA","NA","NA","NA","NA",0.4122383,621,"NA",24,"SOMATIC","Targeted_seq & RNAseq","NM_032664",1.542355841,1.5321495,2.5206686,"fucosyltransferase 10","FUCTX",null,"NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","KLK13","chr19",51559947,51559947,"NM_015596","C","T","nonsynonymous SNV","SNM","D","P","B","c.G731A","p.R244Q","Peptidase S1, PA clan|Serine proteases, trypsin domain",0.471831,142,"NA","NA","NA","NA","NA","NA",0.482643,4177,"NA",126,"SOMATIC","Targeted_seq","NM_015596",1.127850568,0.0192175,0.562704,"kallikrein related peptidase 13","KLK-L4, KLKL4","Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. This gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. Expression of this gene is regulated by steroid hormones and may be useful as a marker for breast cancer. [provided by RefSeq, Jan 2017]","NA"]
["LNEN016","Atypical","Ca A2","Ca A","Yes","NA","Yes","yes","C22orf29","chr22",19838757,19838757,"NM_024627","C","T","nonsynonymous SNV","SNM","D","D","P","c.G1028A","p.G343D","NA",0.45,100,"NA","NA","NA","NA","NA","NA",0.5113485,1498,"NA",24,"SOMATIC","Targeted_seq & RNAseq","NA","NA","NA","NA","protein Bop","C22orf29",null,"NA"]
["LNEN002","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","KMT2A","chr11",118374590,118374590,"NM_001197104","G","C","nonsynonymous SNV","SNM","D","P","P","c.G7983C","p.K2661N;KMT2A","NA",0.075,80,"NA","NA","NA","NA","NA","NA",0.04448105,607,"NA",1126,"SOMATIC","Targeted_seq","NM_005933",4.128376818,3.633581,6.7380205,"lysine methyltransferase 2A","ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS","This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]","Meth"]
["LNEN014","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","HTR5A","chr7",154876006,154876006,"NM_024012","G","A","nonsynonymous SNV","SNM","D","D","D","c.G883A","p.V295M","GPCR, rhodopsin-like, 7TM",0.1077586,232,"NA","NA","NA","NA","NA","NA",0.09010774,1021,"NA",1036,"SOMATIC","Targeted_seq","NM_024012",0.194228659,0,0.219828,"5-hydroxytryptamine receptor 5A","5-HT5A","The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) has been implicated in a wide range of psychiatric conditions and also has vasoconstrictive and vasodilatory effects. The gene described in this record is a member of 5-hydroxytryptamine (serotonin) receptor family and encodes a multi-pass membrane protein that functions as a receptor for 5-hydroxytryptamine and couples to G-proteins. This protein has been shown to function in part through the regulation of intracellular Ca2+ mobilization. [provided by RefSeq, Jul 2008]","NA"]
["LNEN015","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","POLL","chr10",103340109,103340109,"NM_001308382","C","T","nonsynonymous SNV","SNM","D","D","D","c.G434A","p.R145Q;POLL","DNA polymerase beta, palm domain|DNA polymerase family X, binding site;DNA polymerase beta, palm domain|DNA polymerase family X, binding site|DNA-directed DNA polymerase X",0.3048128,187,"NA","NA","NA","NA","NA","NA",0.03921569,204,"NA",30,"SOMATIC","Targeted_seq & RNAseq","NR_033406",5.192476239,4.426156,7.470467,"DNA polymerase lambda","BETAN, POLKAPPA","This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]","NA"]
["LNEN005","Atypical","Ca A1","LCNEC","Yes","NA","Yes","yes","CD200R1","chr3",112647836,112647836,"NM_170780","G","A","nonsynonymous SNV","SNM","D","D","D","c.C527T","p.A176V;CD200R1","CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain;CD80-like, immunoglobulin C2-set|Immunoglobulin-like domain|Immunoglobulin-like fold",0.295082,244,"NA","NA","NA","NA","NA","NA",0.2863741,433,"NA",314,"SOMATIC","Targeted_seq","NM_138806",0.214780057,0.1149515,0.5764773,"CD200 receptor 1","CD200R, HCRTR2, MOX2R, OX2R","This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]","NA"]
["S00716_B","Atypical","Ca B","Ca B","Yes","NA","Yes","NA","LPAR5","chr12",6729829,6729829,"NM_001142961","C","A","stopgain","SNM","NA","NA","NA","c.G586T","p.E196X;LPAR5","GPCR, rhodopsin-like, 7TM",0.4,70,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","WES","NM_020400",0.236619045,0.042881,0.4890093,"lysophosphatidic acid receptor 5","GPR92, GPR93, KPG_010, LPA5","This gene encodes a member of the rhodopsin class of G protein-coupled transmembrane receptors. This protein transmits extracellular signals from lysophosphatidic acid to cells through heterotrimeric G proteins and mediates numerous cellular processes. Many G protein receptors serve as targets for pharmaceutical drugs. Transcript variants of this gene have been described.[provided by RefSeq, Dec 2008]","NA"]
["LNEN010","Atypical","Ca B","Ca B","Yes","NA","Yes","yes","NAALADL1","chr11",64824853,64824853,"NM_005468","C","T","nonsynonymous SNV","SNM","D","D","D","c.G593A","p.R198H","PA domain",0.8834356,163,"NA","NA","NA","NA","NA","NA",0.6323529,136,0.05010893,459,"SOMATIC","Targeted_seq","NM_005468",1.816856034,1.2856375,4.0494114,"N-acetylated alpha-linked acidic dipeptidase like 1","I100, NAALADASEL",null,"NA"]
["S01515","Typical","Ca A1","Ca A","Yes","NA","yes","NA","2002-09-01","chr2",242289505,242289507,"NM_004404","GAT","-","nonframeshift deletion","DEL","NA","NA","NA","c.1002_1004del","p.334_335del;SEPT2","NA",0.258427,89,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_004404",118.4340098,115.2095115,161.4334661,"septin 2","DIFF6, NEDD-5, NEDD5, Pnutl3, hNedd5",null,"NA"]
["S01515","Typical","Ca A1","Ca A","Yes","NA","yes","NA","SEC31A","chr4",83788378,83788378,"NM_001191049","T","C","nonsynonymous SNV","SNM","D","D","P","c.A959G","p.D320G;SEC31A","WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain",0.3496503,143,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger & RNAseq","NM_016211",9.463540239,8.9607805,16.9730619,"SEC31 homolog A, COPII coat complex component","ABP125, ABP130, HSPC275, HSPC334, SEC31L1","The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]","NA"]
["S01515","Typical","Ca A1","Ca A","Yes","NA","yes","NA","IDE","chr10",94274785,94274785,"NM_004969","G","T","nonsynonymous SNV","SNM","D","D","D","c.C676A","p.L226M","Metalloenzyme, LuxS/M16 peptidase-like|Peptidase M16 domain",0.3584906,53,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_004969",3.201662239,3.1426645,5.5376576,"insulin degrading enzyme","INSULYSIN","This gene encodes a zinc metallopeptidase that degrades intracellular insulin, and thereby terminates insulins activity, as well as participating in intercellular peptide signalling by degrading diverse peptides such as glucagon, amylin, bradykinin, and kallidin. The preferential affinity of this enzyme for insulin results in insulin-mediated inhibition of the degradation of other peptides such as beta-amyloid. Deficiencies in this protein's function are associated with Alzheimer's disease and type 2 diabetes mellitus but mutations in this gene have not been shown to be causitive for these diseases. This protein localizes primarily to the cytoplasm but in some cell types localizes to the extracellular space, cell membrane, peroxisome, and mitochondrion. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but have not been experimentally verified.[provided by RefSeq, Sep 2009]","NA"]
["S01515","Typical","Ca A1","Ca A","Yes","NA","yes","NA","PRB3","chr12",11420513,11420513,"NM_006249","T","C","nonsynonymous SNV","SNM","NA","B","B","c.A670G","p.K224E","NA",0.2264151,53,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_006249",1.706772886,0.022528,0.7089799,"proline rich protein BstNI subfamily 3","G1, PRG","This gene encodes a member of the heterogeneous family of basic, proline-rich, human salivary glycoproteins. Multiple alleles of this gene exhibiting variations in the length of the tandem repeats have been identified. The reference genome encodes the \"Long\" allele. The protein isoforms encoded by this gene are recognized as the \"first line of oral defense\" against the detrimental effects of polyphenols in the diet and pathogen infections. This gene is located in a cluster of closely related salivary proline-rich proteins on chromosome 12. [provided by RefSeq, Nov 2015]","NA"]
["S02338","Typical","Ca A2","Ca A","Yes","NA","yes","NA","ANKRD31","chr5",74400351,74400351,"NM_001164443","T","A","nonsynonymous SNV","SNM","D","NA","NA","c.A4862T","p.K1621I","NA",0.1141304,184,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001164443",0.132641489,0.095925,0.2749942,"ankyrin repeat domain 31",null,"This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]","NA"]
["S02338","Typical","Ca A2","Ca A","Yes","NA","yes","NA","BBS1","chr11",66298384,66298384,"NM_024649","C","T","nonsynonymous SNV","SNM","T","P","B","c.C1493T","p.T498I","Quinoprotein alcohol dehydrogenase-like superfamily",0.1121212,330,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_024649",14.83888431,14.8654755,21.9628784,"Bardet-Biedl syndrome 1","BBS2L2","Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]","NA"]
["S02338","Typical","Ca A2","Ca A","Yes","NA","yes","NA","CLEC14A","chr14",38723904,38723904,"NM_175060","C","A","nonsynonymous SNV","SNM","D","D","D","c.G1324T","p.G442C","NA",0.2321429,112,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_175060",8.311968443,7.3729945,16.1648513,"C-type lectin domain containing 14A","C14orf27, CEG1, EGFR-5","This gene encodes a member of the C-type lectin/C-type lectin-like domain (CTL/CTLD) superfamily. Members of this family share a common protein fold and have diverse functions, such as cell adhesion, cell-cell signalling, glycoprotein turnover, and roles in inflammation and immune response. This family member plays a role in cell-cell adhesion and angiogenesis. It functions in filopodia formation, cell migration and tube formation. Due to its presence at higher levels in tumor endothelium than in normal tissue endothelium, it is considered to be a candidate for tumor vascular targeting. [provided by RefSeq, Jan 2012]","NA"]
["S01522","Atypical","Ca A1","LCNEC","Yes","NA","NA","yes","TP53","chr17",7578389,7578389,"NM_001126115","G","A","nonsynonymous SNV","SNM","D","B","B","c.C145T","p.R49C;TP53","p53, DNA-binding domain|p53-like transcription factor, DNA-binding|p53/RUNT-type transcription factor, DNA-binding domain",0.6346154,52,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger","NM_000546",7.100389068,6.2824515,12.5577734,"tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S01522","Atypical","Ca A1","LCNEC","Yes","NA","NA","yes","BRWD3","chrX",79999688,79999688,"NM_153252","C","T","nonsynonymous SNV","SNM","D","D","D","c.G656A","p.R219H","WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain",0.4461538,65,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger","NM_153252",1.973107716,1.922542,3.0727096,"bromodomain and WD repeat domain containing 3","BRODL, MRX93","The protein encoded by this gene contains a bromodomain and several WD repeats. It is thought to have a chromatin-modifying function, and may thus play a role in transcription. Mutations in this gene are associated with a spectrum of cognitive disabilities and X-linked macrocephaly. This gene is also associated with translocations in patients with B-cell chronic lymphocytic leukemia. [provided by RefSeq, Jul 2017]","NA"]
["S01584","Typical","Ca A2","Ca A","Yes","NA","yes","NA","ATN1","chr12",7045891,7045891,"NM_001007026","-","CAGCAGCAGCAGCAG","nonframeshift insertion","INS","NA","NA","NA","c.1461_1462insCAGCAGCAGCAGCAG","p.Q487delinsQQQQQQ;ATN1","NA",0.127907,86,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001940",37.24313619,37.221346,56.0009417,"atrophin 1","B37, D12S755E, DRPLA, HRS, NOD","Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]","NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","LTBP1","chr2",33173962,33173962,"NM_206943","G","A","nonsynonymous SNV","SNM","T","B","B","c.G515A","p.R172Q","NA",0.4270833,288,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001166265",2.035840159,1.483509,4.6133689,"latent transforming growth factor beta binding protein 1",null,"The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","DST","chr6",56497655,56497655,"NM_001723","T","C","nonsynonymous SNV","SNM","T","D","P","c.A2191G","p.R731G;DST","NA",0.5066667,75,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_015548",11.16921213,9.6994975,20.1381579,"dystonin","2310001O04Rik, A830042E19Rik, AW554249, BP230, BPAG1-n, Bpag, Bpag1, Macf2, ah, athetoid, dt, mKIAA0728, nmf203, nmf339",null,"NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","WRN","chr8",30977778,30977778,"NM_000553","C","G","nonsynonymous SNV","SNM","D","D","D","c.C2468G","p.A823G","Helicase, C-terminal|P-loop containing nucleoside triphosphate hydrolase",0.3944954,109,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_000553",2.985642602,2.4187525,4.6787224,"Werner syndrome RecQ like helicase","RECQ3, RECQL2, RECQL3","This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]","NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","FBXL6","chr8",145579210,145579210,"NM_012162","G","T","nonsynonymous SNV","SNM","D","D","P","c.C1601A","p.T534N;FBXL6","NA",0.1025641,39,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_012162",7.657070909,6.748541,12.2863541,"F-box and leucine rich repeat protein 6","FBL6, FBL6A, PP14630","This gene encodes a member of a family of proteins that are characterized by an F-box motif. The encoded protein also contains leucine-rich repeats. F-box-containing proteins comprise one of the subunits of the SCF (SKP1-cullin-F-box) complex, which functions in phosphorylation-dependent ubiquitination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]","NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","EP400","chr12",132547093,132547093,"NM_015409","-","CAGCAGCAG","nonframeshift insertion","INS","NA","NA","NA","c.8181_8182insCAGCAGCAG","p.Q2727delinsQQQQ","NA",0.1551724,116,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_015409",3.67315958,3.6866465,5.3612607,"E1A binding protein p400","CAGH32, P400, TNRC12",null,"NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","ARHGEF40","chr14",21551035,21551035,"NM_001278529","A","T","stopgain","SNM","NA","NA","NA","c.A1390T","p.K464X;ARHGEF40","Dbl homology (DH) domain",0.1384615,130,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_018071",7.109782841,5.4757615,14.0876975,"Rho guanine nucleotide exchange factor 40","SOLO","This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]","NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","MUC16","chr19",9091725,9091725,"NM_024690","C","T","nonsynonymous SNV","SNM","D","B","B","c.G90A","p.M30I","NA",0.3622047,254,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_024690",0.192997216,0.0015695,0.0337856,"mucin 16, cell surface associated","CA125","This gene encodes a protein that is a member of the mucin family. Mucins are high molecular weight, O-glycosylated proteins that play an important role in forming a protective mucous barrier, and are found on the apical surfaces of the epithelia. The encoded protein is a membrane-tethered mucin that contains an extracellular domain at its amino terminus, a large tandem repeat domain, and a transmembrane domain with a short cytoplasmic domain. The amino terminus is highly glycosylated, while the repeat region contains 156 amino acid repeats unit that are rich in serines, threonines, and prolines. Interspersed within the repeats are Sea urchin sperm protein Enterokinase and Agrin (SEA) modules, leucine-rich repeats and ankyrin (ANK) repeats. These regions together form the ectodomain, and there is a potential cleavage site found near an SEA module close to the transmembrane domain. This protein is thought to play a role in forming a barrier, protecting epithelial cells from pathogens. Products of this gene have been used as a marker for different cancers, with higher expression levels associated with poorer outcomes. [provided by RefSeq, May 2017]","NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","EIF1AX","chrX",20156713,20156713,"NM_001412","C","T","nonsynonymous SNV","SNM","D","D","D","c.G44A","p.G15D","Nucleic acid-binding, OB-fold",0.3925926,135,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger & RNAseq","NM_001412",33.1093701,33.0572695,44.1098094,"eukaryotic translation initiation factor 1A X-linked","EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C","This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]","NA"]
["S01583","Typical","Ca A2","Ca A","Yes","NA","yes","NA","CLVS1","chr8",62366749,62366749,"NM_173519","G","A","stopgain","SNM","NA","NA","NA","c.G680A","p.W227X","CRAL-TRIO lipid binding domain",0.5603448,232,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_173519",1.664832602,0.9371825,3.9668351,"clavesin 1","C6orf212L, CRALBPL, RLBP1L1",null,"NA"]
["S01537","Typical","Ca A2","Ca A","Yes","NA","yes","NA","SLC22A15","chr1",116519258,116519258,"NM_018420","G","C","nonsynonymous SNV","SNM","D","P","P","c.G10C","p.E4Q","NA",0.2096774,62,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_018420",3.405959966,3.0189535,6.372367,"solute carrier family 22 member 15","FLIPT1, PRO34686","Organic ion transporters, such as SLC22A15, transport various medically and physiologically important compounds, including pharmaceuticals, toxins, hormones, neurotransmitters, and cellular metabolites. These transporters are also referred to as amphiphilic solute facilitators (ASFs).[supplied by OMIM, Apr 2004]","NA"]
["S01537","Typical","Ca A2","Ca A","Yes","NA","yes","NA","INTS7","chr1",212190349,212190349,"NM_001199809","C","T","nonsynonymous SNV","SNM","D","D","D","c.G241A","p.A81T;INTS7","Armadillo-like helical|Armadillo-type fold;Armadillo-type fold",0.2674419,86,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_015434",4.532385477,4.0684125,8.0099293,"integrator complex subunit 7","C1orf73, INT7","This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]","NA"]
["S01537","Typical","Ca A2","Ca A","Yes","NA","yes","NA","SEC31A","chr4",83791478,83791478,"NM_001191049","C","A","nonsynonymous SNV","SNM","D","B","B","c.G867T","p.E289D;SEC31A","WD40-repeat-containing domain|WD40/YVTN repeat-like-containing domain",0.2553191,47,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger & RNAseq","NM_016211",9.463540239,8.9607805,16.9730619,"SEC31 homolog A, COPII coat complex component","ABP125, ABP130, HSPC275, HSPC334, SEC31L1","The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]","NA"]
["S01537","Typical","Ca A2","Ca A","Yes","NA","yes","NA","MCTP1","chr5",94244998,94244998,"NM_001297777","G","T","nonsynonymous SNV","SNM","D","D","P","c.C809A","p.A270E;MCTP1","C2 domain",0.1020408,49,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001002796",1.013854511,0.702995,2.2970128,"multiple C2 and transmembrane domain containing 1",null,null,"NA"]
["S01537","Typical","Ca A2","Ca A","Yes","NA","yes","NA","SIPA1L1","chr14",72190563,72190563,"NM_001284245","G","T","stopgain","SNM","NA","NA","NA","c.G4408T","p.E1470X;SIPA1L1","NA",0.1,70,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_015556",5.994017159,4.546628,10.8789901,"signal-induced proliferation-associated 1 like 1","SPAL, Spa-1, Spa1, Spar","GTPase-activating protein (GAP) that is specific for Rap1; may be involved in cytoskeletal organization of neurons [RGD, Feb 2006]","NA"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","DENND4B","chr1",153903247,153903247,"NM_014856","C","T","nonsynonymous SNV","SNM","T","D","P","c.G4201A","p.G1401R","NA",0.4269663,89,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_014856",7.189290341,6.5869635,9.6979746,"DENN domain containing 4B","KIAA0476",null,"NA"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","RASAL2","chr1",178420839,178420839,"NM_004841","C","G","nonsynonymous SNV","SNM","T","D","D","c.C1317G","p.I439M;RASAL2","Ras GTPase-activating protein|Rho GTPase activation protein",0.4528302,106,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_170692",1.37437842,1.1900795,2.8314766,"RAS protein activator like 2","NGAP","This gene encodes a protein that contains the GAP-related domain (GRD), a characteristic domain of GTPase-activating proteins (GAPs). GAPs function as activators of Ras superfamily of small GTPases. The protein encoded by this gene is able to complement the defective RasGAP function in a yeast system. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]","NA"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","WDFY3","chr4",85623563,85623563,"NM_014991","T","C","nonsynonymous SNV","SNM","T","P","P","c.A8539G","p.I2847V","BEACH domain",0.488189,127,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_014991",6.183697375,6.190694,8.5735609,"WD repeat and FYVE domain containing 3","ALFY, BCHS, MCPH18, ZFYVE25","This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]","NA"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","PRDX3","chr10",120931933,120931933,"NM_001302272","T","C","nonsynonymous SNV","SNM","D","P","P","c.A512G","p.D171G;PRDX3","Alkyl hydroperoxide reductase subunit C/ Thiol specific antioxidant|Thioredoxin-like fold",0.4604651,215,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_006793",135.0782587,118.2984395,224.6487418,"peroxiredoxin 3","AOP-1, AOP1, HBC189, MER5, PRO1748, SP-22, prx-III","This gene encodes a mitochondrial protein with antioxidant function. The protein is similar to the C22 subunit of Salmonella typhimurium alkylhydroperoxide reductase, and it can rescue bacterial resistance to alkylhydroperoxide in E. coli that lack the C22 subunit. The human and mouse genes are highly conserved, and they map to the regions syntenic between mouse and human chromosomes. Sequence comparisons with recently cloned mammalian homologs suggest that these genes consist of a family that is responsible for the regulation of cellular proliferation, differentiation and antioxidant functions. This family member can protect cells from oxidative stress, and it can promote cell survival in prostate cancer. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 1, 3, 13 and 22. [provided by RefSeq, Oct 2014]","NA"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","MEN1","chr11",64575362,64575362,"NA","C","T","splicing","SNM","NA","NA","NA","NA","NA","NA",0.7402597,77,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger","NM_130799",8.940765932,9.295857,12.3206912,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","R3HDM2","chr12",57649857,57649857,"NM_014925","C","A","stopgain","SNM","NA","NA","NA","c.G2506T","p.G836X","NA",0.02427184,206,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_014925",20.90803776,20.339743,29.6331457,"R3H domain containing 2","CAG6, PR01365",null,"NA"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","PKD1","chr16",2152106,2152106,"NM_000296","A","T","nonsynonymous SNV","SNM","T","P","B","c.T9353A","p.F3118Y;PKD1","PLAT/LH2 domain",0.6716418,67,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_001009944",8.893130761,7.9622185,15.0253137,"polycystin 1, transient receptor potential channel interacting","PBP, PC1, Pc-1, TRPP1","This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]","NA"]
["S02323","Atypical","Ca B","Ca B","Yes","NA","yes","NA","MAP2K4","chr17",12016634,12016634,"NM_003010","C","G","nonsynonymous SNV","SNM","D","D","D","c.C770G","p.S257C;MAP2K4","Protein kinase domain|Protein kinase-like domain|Serine/threonine/dual specificity protein kinase, catalytic  domain",0.2090909,110,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_003010",10.42512458,10.0248375,15.9010995,"mitogen-activated protein kinase kinase 4","JNKK, JNKK1, MAPKK4, MEK4, MKK4, PRKMK4, SAPKK-1, SAPKK1, SEK1, SERK1, SKK1","This gene encodes a member of the mitogen-activated protein kinase (MAPK) family. Members of this family act as an integration point for multiple biochemical signals and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation, and development. They form a three-tiered signaling module composed of MAPKKKs, MAPKKs, and MAPKs. This protein is phosphorylated at serine and threonine residues by MAPKKKs and subsequently phosphorylates downstream MAPK targets at threonine and tyrosine residues. A similar protein in mouse has been reported to play a role in liver organogenesis. A pseudogene of this gene is located on the long arm of chromosome X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]","NA"]
["S02339","Typical","Ca A2","Ca A","Yes","NA","yes","NA","NSD1","chr5",176638540,176638540,"NM_022455","C","G","nonsynonymous SNV","SNM","T","B","B","c.C3140G","p.A1047G;NSD1","NA",0.2405063,158,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger & RNAseq","NM_172349",4.602908545,4.500585,7.1792849,"nuclear receptor binding SET domain protein 1","ARA267, KMT3B, SOTOS, SOTOS1, STO","This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]","Meth"]
["S02339","Typical","Ca A2","Ca A","Yes","NA","yes","NA","CFAP70","chr10",75113461,75113461,"NM_145170","C","T","nonsynonymous SNV","SNM","T","D","P","c.G103A","p.A35T","NA",0.2,100,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_145170",2.954590057,2.4331025,4.8968606,"cilia and flagella associated protein 70","Ttc18",null,"NA"]
["S02339","Typical","Ca A2","Ca A","Yes","NA","yes","NA","FASN","chr17",80054210,80054210,"NM_004104","G","C","nonsynonymous SNV","SNM","D","D","D","c.C112G","p.R38G","Beta-ketoacyl synthase, N-terminal|Thiolase-like",0.1136364,176,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_004104",10.67338144,8.035597,15.846065,"fatty acid synthase","FAS, OA-519, SDR27X1","The enzyme encoded by this gene is a multifunctional protein. Its main function is to catalyze the synthesis of palmitate from acetyl-CoA and malonyl-CoA, in the presence of NADPH, into long-chain saturated fatty acids. In some cancer cell lines, this protein has been found to be fused with estrogen receptor-alpha (ER-alpha), in which the N-terminus of FAS is fused in-frame with the C-terminus of ER-alpha. [provided by RefSeq, Jul 2008]","NA"]
["S02339","Typical","Ca A2","Ca A","Yes","NA","yes","NA","OPA3","chr19",46032674,46032674,"NM_001017989","C","A","nonsynonymous SNV","SNM","D","P","P","c.G183T","p.M61I","NA",0.220339,59,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_025136",3.960897216,3.7550365,5.8945527,"OPA3, outer mitochondrial membrane lipid metabolism regulator","MGA3","The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]","NA"]
["S01519","Typical","Ca A1","Ca A","Yes","NA","yes","NA","PTCH2","chr1",45298011,45298011,"NM_001166292","C","A","nonsynonymous SNV","SNM","D","D","D","c.G268T","p.G90C;PTCH2","NA",0.1413043,92,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_003738",0.690584443,0.4555225,1.4221538,"patched 2","blowout, blw, etlD309849.2, ptc-1, ptc1, ptch1",null,"NA"]
["S01519","Typical","Ca A1","Ca A","Yes","NA","yes","NA","CHRD","chr3",184100176,184100176,"NA","G","C","splicing","SNM","NA","NA","NA","NA","NA","NA",0.1428571,112,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_003741",1.511240034,0.630947,3.0402531,"chordin","chd, din, fe47d04, wu:fe47d04",null,"NA"]
["S01519","Typical","Ca A1","Ca A","Yes","NA","yes","NA","NBN","chr8",90976636,90976636,"NA","A","T","splicing","SNM","NA","NA","NA","NA","NA","NA",0.1944444,36,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_002485",7.749685841,7.304816,11.953525,"nibrin","AT-V1, AT-V2, ATV, NBS, NBS1, P95","Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]","NA"]
["S01519","Typical","Ca A1","Ca A","Yes","NA","yes","NA","PSIP1","chr9",15472655,15472655,"NM_021144","G","A","stopgain","SNM","NA","NA","NA","c.C952T","p.Q318X;PSIP1","NA",0.7941176,68,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger & RNAseq","NM_001128217",19.90581526,17.2555695,31.8343933,"PC4 and SFRS1 interacting protein 1","DFS70, LEDGF, PAIP, PSIP2, p52, p75",null,"NA"]
["S01519","Typical","Ca A1","Ca A","Yes","NA","yes","NA","GPR68","chr14",91700346,91700346,"NM_001177676","G","T","nonsynonymous SNV","SNM","D","B","B","c.C1049A","p.T350N;GPR68","NA",0.2682927,41,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_003485",0.480949784,0.338377,1.0195193,"G protein-coupled receptor 68","AI2A6, GPR12A, OGR1","The protein encoded by this gene is a G protein-coupled receptor for sphingosylphosphorylcholine. The encoded protein is a proton-sensing receptor, inactive at pH 7.8 but active at pH 6.8. Mutations in this gene are a cause of amelogenesis imperfecta. [provided by RefSeq, Feb 2017]","NA"]
["S01519","Typical","Ca A1","Ca A","Yes","NA","yes","NA","PALM3","chr19",14164704,14164704,"NM_001145028","C","G","nonsynonymous SNV","SNM","D","D","D","c.G1735C","p.E579Q","NA",0.2359551,178,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001145028",0.446108545,0.097216,0.5019311,"paralemmin 3","4432412L15Rik, AL024300",null,"NA"]
["S01519","Typical","Ca A1","Ca A","Yes","NA","yes","NA","TFAP2C","chr20",55206534,55206534,"NM_003222","A","G","nonsynonymous SNV","SNM","T","B","B","c.A322G","p.S108G","NA",0.48,25,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_003222",0.442795307,0.0576575,0.7797885,"transcription factor AP-2 gamma","AP2-GAMMA, ERF1, TFAP2G, hAP-2g","The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]","NA"]
["S01520","Atypical","Ca A1","Ca A","Yes","NA","yes","NA","HNRNPR","chr1",23645042,23645042,"NM_001297621","C","G","nonsynonymous SNV","SNM","D","D","P","c.G471C","p.W157C;HNRNPR","Nucleotide-binding alpha-beta plait domain|RNA recognition motif domain",0.3012048,166,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_001102397",32.31165255,34.1707265,40.7526863,"heterogeneous nuclear ribonucleoprotein R","HNRPR, hnRNP-R","This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]","NA"]
["S01520","Atypical","Ca A1","Ca A","Yes","NA","yes","NA","VANGL1","chr1",116233783,116233783,"NM_001172411","A","T","nonsynonymous SNV","SNM","D","D","D","c.A1352T","p.Y451F;VANGL1","NA",0.2325581,86,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_138959",2.006656057,0.853594,5.9188912,"VANGL planar cell polarity protein 1","KITENIN, LPP2, STB2, STBM2","This gene encodes a member of the tretraspanin family. The encoded protein may be involved in mediating intestinal trefoil factor induced wound healing in the intestinal mucosa. Mutations in this gene are associated with neural tube defects. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]","NA"]
["S01520","Atypical","Ca A1","Ca A","Yes","NA","yes","NA","NRP1","chr10",33545323,33545323,"NM_001024628","C","G","nonsynonymous SNV","SNM","D","B","B","c.G735C","p.M245I;NRP1","CUB domain",0.2727273,99,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_003873",7.30638367,4.8661185,13.6600805,"neuropilin 1","BDCA4, CD304, NP1, NRP, VEGF165R","This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S01520","Atypical","Ca A1","Ca A","Yes","NA","yes","NA","NONO","chrX",70516456,70516456,"NM_001145410","A","C","nonsynonymous SNV","SNM","D","B","B","c.A425C","p.D142A;NONO","NOPS;Nucleotide-binding alpha-beta plait domain|RNA recognition motif domain",0.2906977,86,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","RNAseq","NM_007363",84.13827295,84.212471,132.4377009,"non-POU domain containing octamer binding","MRXS34, NMT55, NRB54, P54, P54NRB, PPP1R114","This gene encodes an RNA-binding protein which plays various roles in the nucleus, including transcriptional regulation and RNA splicing. A rearrangement between this gene and the transcription factor E3 gene has been observed in papillary renal cell carcinoma. Alternatively spliced transcript variants have been described. Pseudogenes exist on Chromosomes 2 and 16. [provided by RefSeq, Feb 2009]","NA"]
["S01523","Typical","NA","NA","Yes","NA","NA","NA","DPP10","chr2",116572418,116572418,"NM_001004360","T","A","nonsynonymous SNV","SNM","D","D","D","c.T1729A","p.W577R;DPP10","Alpha/Beta hydrolase fold;Alpha/Beta hydrolase fold|Peptidase S9, prolyl oligopeptidase, catalytic domain",0.3357143,140,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001178034",1.643245932,0.0433205,6.5241007,"dipeptidyl peptidase like 10","DPL2, DPPY, DPRP-3, DPRP3","This gene encodes a single-pass type II membrane protein that is a member of the S9B family in clan SC of the serine proteases. This protein has no detectable protease activity, most likely due to the absence of the conserved serine residue normally present in the catalytic domain of serine proteases. However, it does bind specific voltage-gated potassium channels and alters their expression and biophysical properties. Mutations in this gene have been associated with asthma. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01523","Typical","NA","NA","Yes","NA","NA","NA","LINGO2","chr9",27949007,27949007,"NM_001258282","C","T","nonsynonymous SNV","SNM","D","D","D","c.G1663A","p.V555M;LINGO2","NA",0.3243243,148,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001258282",1.507049455,0.240592,4.7767233,"leucine rich repeat and Ig domain containing 2","LERN3, LRRN6C",null,"NA"]
["S01523","Typical","NA","NA","Yes","NA","NA","NA","GRIN3A","chr9",104449337,104449337,"NM_133445","A","G","nonsynonymous SNV","SNM","T","P","P","c.T845C","p.L282P","Periplasmic binding protein-like I",0.3028169,142,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_133445",0.838874523,0.0892425,2.2025516,"glutamate ionotropic receptor NMDA type subunit 3A","GluN3A, NMDAR-L, NR3A","This gene encodes a subunit of the N-methyl-D-aspartate (NMDA) receptors, which belong to the superfamily of glutamate-regulated ion channels, and function in physiological and pathological processes in the central nervous system. This subunit shows greater than 90% identity to the corresponding subunit in rat. Studies in the knockout mouse deficient in this subunit suggest that this gene may be involved in the development of synaptic elements by modulating NMDA receptor activity. [provided by RefSeq, Jul 2008]","NA"]
["S01523","Typical","NA","NA","Yes","NA","NA","NA","ATN1","chr12",7045891,7045891,"NM_001007026","-","CAGCAGCAGCAGCAG","nonframeshift insertion","INS","NA","NA","NA","c.1461_1462insCAGCAGCAGCAGCAG","p.Q487delinsQQQQQQ;ATN1","NA",0.1568627,102,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_001940",37.24313619,37.221346,56.0009417,"atrophin 1","B37, D12S755E, DRPLA, HRS, NOD","Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein. [provided by RefSeq, Jul 2016]","NA"]
["S01523","Typical","NA","NA","Yes","NA","NA","NA","TMEM187","chrX",153248126,153248126,"NM_003492","G","T","nonsynonymous SNV","SNM","D","B","B","c.G613T","p.V205L","NA",0.2617801,191,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_003492",5.050734091,4.967759,6.7087787,"transmembrane protein 187","CXorf12, DXS9878E, ITBA1","This gene consists of two exons and encodes a multi-pass membrane protein. An alternatively spliced transcript variant encoding the same protein has been found, but its biological validity is not determined. [provided by RefSeq, May 2010]","NA"]
["S01577","Atypical","Ca A1","Ca A","Yes","NA","NA","yes","RB1","chr13",49039179,49039179,"NM_000321","A","G","nonsynonymous SNV","SNM","D","D","D","c.A2257G","p.I753V","Cyclin-like|Retinoblastoma-associated protein, B-box",0.5731707,82,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger","NM_000321",16.1294137,15.3122555,24.7109911,"RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S01577","Atypical","Ca A1","Ca A","Yes","NA","NA","yes","DICER1","chr14",95557642,95557642,"NM_001271282","C","T","nonsynonymous SNV","SNM","D","D","D","c.G5425A","p.G1809R;DICER1","Dicer dimerisation domain;Ribonuclease III domain",0.3362069,116,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger","NM_030621",5.549755705,5.4041265,8.9977227,"dicer 1, ribonuclease III","DCR1, Dicer, Dicer1e, HERNA, K12H4.8-LIKE, MNG1, RMSE2","This gene encodes a protein possessing an RNA helicase motif containing a DEXH box in its amino terminus and an RNA motif in the carboxy terminus. The encoded protein functions as a ribonuclease and is required by the RNA interference and small temporal RNA (stRNA) pathways to produce the active small RNA component that represses gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2010]","NA"]
["S01577","Atypical","Ca A1","Ca A","Yes","NA","NA","yes","EIF1AX","chrX",20156723,20156723,"NM_001412","T","C","nonsynonymous SNV","SNM","D","P","P","c.A34G","p.R12G","Nucleic acid-binding, OB-fold",0.4432432,185,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger","NM_001412",33.1093701,33.0572695,44.1098094,"eukaryotic translation initiation factor 1A X-linked","EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C","This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]","NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","EEPD1","chr7",36194117,36194117,"NM_030636","C","T","nonsynonymous SNV","SNM","D","D","P","c.C184T","p.R62C","Competence protein ComEA, helix-hairpin-helix domain|Helix-hairpin-helix DNA-binding motif, class 1|RuvA domain 2-like",0.3854167,192,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_030636",1.805046193,1.300312,3.8360086,"endonuclease/exonuclease/phosphatase family domain containing 1","HSPC107",null,"NA"]
["S01573","Typical","Ca A1","Ca A","Yes","NA","yes","NA","FOXC2","chr16",86601093,86601093,"NM_005251","G","A","nonsynonymous SNV","SNM","D","P","P","c.G152A","p.G51E","NA",0.3263158,95,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","NA","NM_005251",0.380750636,0.2016205,0.9063053,"forkhead box C2","FKHL14, LD, MFH-1, MFH1","This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain.  The specific function of this gene has not yet been determined; however, it may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]","NA"]
["S02339","Typical","Ca A2","Ca A","Yes","NA","yes","NA","ARID1A","chr1",27105930,27105930,"NM_006015","-","G","frameshift insertion","INS","NA","NA","NA","c.5542dupG","p.G1847fs;ARID1A","NA",0.226087,115,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger","NM_006015",10.4423938,10.361501,18.3203589,"AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S01520","Atypical","Ca A1","Ca A","Yes","NA","yes","NA","ARID1A","chr1",27100176,27100176,"NM_006015","C","A","stopgain","SNM","NA","NA","NA","c.C3972A","p.Y1324X;ARID1A","NA",0.260274,73,"NA","NA","NA","NA","NA","NA","NA","NA","NA","NA","SOMATIC","Sanger & RNAseq","NM_006015",10.4423938,10.361501,18.3203589,"AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","SPRED2","chr2",65540890,65540890,"NM_181784","T","A","missense","SNM","NA","NA","NA","c.1002A>T","p.R334S"," SPR.","NA","NA","NA","NA",0.413043,41,0,18,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_181784",8.633904307,8.9080505,15.481862,"sprouty related EVH1 domain containing 2","Spred-2","SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","CRIPAK","chr4",1388724,1388724,"NM_175918","C","G","missense","SNM","NA","NA","NA","c.425C>G","p.P142R","NA","NA","NA","NA","NA",0.38835,20,0.036036,11,"NA","NA","NA","NA","SOMATIC","NA","NM_175918",2.31232942,2.079947,4.1351586,"cysteine rich PAK1 inhibitor",null,"CRIPAK is a negative regulator of PAK1 (MIM 602590) that is upregulated by estrogen (Talukder et al., 2006 [PubMed 16278681]).[supplied by OMIM, Mar 2008]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","CWH43","chr4",49019289,49019289,"NM_025087","G","C","missense","SNM","NA","NA","NA","c.1210G>C","p.G404R","NA","NA","NA","NA","NA",0.32,45,0,40,"NA","NA","NA","NA","SOMATIC","NA","NM_025087",0.11635492,0,0.0943665,"Cwh43p","YCR017C",null,"NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","GMPR","chr6",16247119,16247119,"NM_006877","A","G","missense","SNM","NA","NA","NA","c.134A>G","p.Y45C","NA","NA","NA","NA","NA",0.470588,47,0,38,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_006877",10.43854626,4.3357565,21.8242355,"guanosine monophosphate reductase","GMPR 1, GMPR1","This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","FAM8A1","chr6",17608511,17608511,"NM_016255","C","T","stopgain","SNM","NA","NA","NA","c.1183C>T","p.R395*"," RDD.","NA","NA","NA","NA",0.142857,44,0,30,"NA","NA","NA","NA","SOMATIC","NA","NM_016255",15.843613,14.9689715,23.7584659,"family with sequence similarity 8 member A1","AHCP",null,"NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","FAM8A1","chr6",17608527,17608527,"NM_016255","T","C","missense","SNM","NA","NA","NA","c.1199T>C","p.I400T"," RDD.","NA","NA","NA","NA",0.166667,37,0,27,"NA","NA","NA","NA","SOMATIC","NA","NM_016255",15.843613,14.9689715,23.7584659,"family with sequence similarity 8 member A1","AHCP",null,"NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","C6orf165","chr6",88127977,88127977,"NM_001031743","A","G","missense","SNM","NA","NA","NA","c.683A>G","p.Y228C","NA","NA","NA","NA","NA",0.25,25,0,32,"NA","NA","NA","NA","SOMATIC","NA","NM_001031743",0.472477261,0.3506195,1.0435961,"cilia and flagella associated protein 206","C6orf165, dJ382I10.1",null,"NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","AHI1","chr6",135752452,135752452,"NM_001134830","C","A","missense","SNM","NA","NA","NA","c.2267G>T","p.G756V","NA","NA","NA","NA","NA",0.307692,35,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001134830",8.588440693,7.6634115,13.1501753,"Abelson helper integration site 1","AHI-1, JBTS3, ORF1, dJ71N10.1","This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","ZNF786","chr7",148767894,148767894,"NM_152411","A","G","missense","SNM","NA","NA","NA","c.1970T>C","p.F657S","NA","NA","NA","NA","NA",0.571429,25,0,27,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_152411",2.716435568,2.5758715,4.2146813,"zinc finger protein 786",null,null,"NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","ALDH3B1","chr11",67795378,67795378,"NM_000694","G","C","missense","SNM","NA","NA","NA","c.1376G>C","p.G459A","NA","NA","NA","NA","NA",0.2,27,0,20,"NA","NA","NA","NA","SOMATIC","NA","NM_000694",1.028123091,0.375032,2.7131974,"aldehyde dehydrogenase 3 family member B1","ALDH4, ALDH7","This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","PDE8A","chr15",85619102,85619102,"NM_002605","A","T","missense","SNM","NA","NA","NA","c.444A>T","p.R148S","NA","NA","NA","NA","NA",0.470588,45,0,50,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_002605",2.834520875,2.2401755,7.423876,"phosphodiesterase 8A","HsT19550","The protein encoded by this gene belongs to the cyclic nucleotide phosphodiesterase (PDE) family, and PDE8 subfamily. This PDE hydrolyzes the second messenger, cAMP, which is a regulator and mediator of a number of cellular responses to extracellular signals. Thus, by regulating the cellular concentration of cAMP, this protein plays a key role in many important physiological processes. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2011]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","PRR14","chr16",30666874,30666874,"NM_024031","C","G","missense","SNM","NA","NA","NA","c.1366C>G","p.Q456E","NA","NA","NA","NA","NA",0.577778,40,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_024031",16.22229444,14.7711675,23.7017184,"proline rich 14",null,"The protein encoded by this gene tethers heterochromatin to the nuclear laminar scaffold by binding heterochromatin protein 1 (HP1) and the nuclear lamina. The tether is broken during mitosis and reforms quickly after mitosis, with the encoded protein first binding HP1 and then attaching to the nuclear lamina. This protein also has been shown to promote MyoD activity and skeletal myogenesis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Feb 2016]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","CES1","chr16",55862791,55862791,"NM_001025195","T","C","missense","SNM","NA","NA","NA","c.148A>G","p.I50V","NA","NA","NA","NA","NA",0.108108,66,0,52,"NA","NA","NA","NA","SOMATIC","NA","NM_001025195",1.340579682,0.2928995,2.640297,"carboxylesterase 1","ACAT, CE-1, CEH, CES2, HMSE, HMSE1, PCE-1, REH, SES1, TGH, hCE-1","This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]","NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","C2CD2","chr21",43342187,43342187,"NM_015500","A","G","missense","SNM","NA","NA","NA","c.386T>C","p.V129A","NA","NA","NA","NA","NA",0.425532,42,0,21,"NA","NA","NA","NA","SOMATIC","NA","NM_015500",0.817365977,0.4483525,1.8833356,"C2 calcium dependent domain containing 2","C21orf25, C21orf258, TMEM24L",null,"NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","TTLL12","chr22",43564096,43564096,"NM_015140","T","G","missense","SNM","NA","NA","NA","c.1853A>C","p.Y618S"," TTL.","NA","NA","NA","NA",0.25,25,0,13,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_015140",13.23499248,10.211906,29.3730746,"tubulin tyrosine ligase like 12","dJ526I14.2",null,"NA"]
["S00016","Typical","Ca A1","Ca A","NA","yes","yes","NA","EIF1AX","chrX",20156741,20156741,"NM_001412","C","G","splicing","SNM","NA","NA","NA","c.17_splice","e3-1","NA","NA","NA","NA","NA",0.5,41,0,34,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001412",33.1093701,33.0572695,44.1098094,"eukaryotic translation initiation factor 1A X-linked","EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C","This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]","NA"]
["S01493","Typical","Ca B","Ca B","NA","yes","yes","NA","PALMD","chr1",100154628,100154628,"NM_017734","C","A","missense","SNM","NA","NA","NA","c.812C>A","p.T271N","NA","NA","NA","NA","NA",0.386364,39,0,37,"NA","NA","NA","NA","SOMATIC","Sanger","NM_017734",3.206468739,2.700086,6.241787,"palmdelphin","C1orf11, PALML",null,"NA"]
["S01493","Typical","Ca B","Ca B","NA","yes","yes","NA","AGAP11","chr10",88769304,88769304,"NM_133447","G","A","missense","SNM","NA","NA","NA","c.1295G>A","p.R432H","NA","NA","NA","NA","NA",0.322581,27,0,33,"NA","NA","NA","NA","SOMATIC","NA","NM_133447",0.594476511,0.478697,1.2306545,"ArfGAP with GTPase domain, ankyrin repeat and PH domain 11",null,null,"NA"]
["S01493","Typical","Ca B","Ca B","NA","yes","yes","NA","TMEM223","chr11",62559411,62559411,"NM_001080501","A","T","missense","SNM","NA","NA","NA","c.56T>A","p.L19Q","NA","NA","NA","NA","NA",0.448276,26,0,27,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001080501",13.8790899,11.764276,23.2547704,"transmembrane protein 223","0610006I08Rik",null,"NA"]
["S01493","Typical","Ca B","Ca B","NA","yes","yes","NA","ABCA9","chr17",67031523,67031523,"NM_080283","G","A","missense","SNM","NA","NA","NA","c.992C>T","p.T331M","NA","NA","NA","NA","NA",0.195122,73,0,44,"NA","NA","NA","NA","SOMATIC","NA","NM_080283",0.511284761,0.322331,1.143011,"ATP binding cassette subfamily A member 9","EST640918","This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]","NA"]
["S01493","Typical","Ca B","Ca B","NA","yes","yes","NA","SLC25A5","chrX",118603756,118603756,"NM_001152","T","A","missense","SNM","NA","NA","NA","c.244T>A","p.F82I","NA","NA","NA","NA","NA",0.225806,27,0,18,"NA","NA","NA","NA","SOMATIC","NA","NM_001152",196.3225121,150.019029,359.3637637,"solute carrier family 25 member 5","2F1, AAC2, ANT2, T2, T3","This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]","NA"]
["S01493","Typical","Ca B","Ca B","NA","yes","yes","NA","ARID1A","chr1",27107165,27107172,"NM_006015","TGGACATC","--------","frameshift deletion","DEL","NA","NA","NA","c.6776_6783delTGGACATC","p.L2259fs","NA","NA","NA","NA","NA",0.478589,39,0,26,"NA","NA","NA","NA","SOMATIC","Sanger","NM_006015",10.4423938,10.361501,18.3203589,"AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","HECTD3","chr1",45469363,45469363,"NM_024602","G","C","missense","SNM","NA","NA","NA","c.2479C>G","p.L827V"," HECT.","NA","NA","NA","NA",0.369565,41,0,35,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_024602",7.985652648,7.193805,12.7263109,"HECT domain E3 ubiquitin protein ligase 3",null,"The protein encoded by this gene transfers ubiquitin from an E2 ubiquitin-conjugating enzyme to targeted substrates, leading to the degradation of those substrates. The encoded protein has been shown to transfer ubiquitin to TRIOBP to facilitate cell cycle progression, and to STX8. [provided by RefSeq, Dec 2012]","NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","CEP170","chr1",243328110,243328110,"NM_014812","G","A","missense","SNM","NA","NA","NA","c.3152C>T","p.P1051L","NA","NA","NA","NA","NA",0.189189,33,0,12,"NA","NA","NA","NA","SOMATIC","NA","NM_014812",3.116496057,2.5381205,6.5094234,"centrosomal protein 170","FAM68A, KAB, KIAA0470","The product of this gene is a component of the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. During interphase, the encoded protein localizes to the sub-distal appendages of mature centrioles, which are microtubule-based structures thought to help organize centrosomes. During mitosis, the protein associates with spindle microtubules near the centrosomes. The protein interacts with and is phosphorylated by polo-like kinase 1, and functions in maintaining microtubule organization and cell morphology. The human genome contains a putative transcribed pseudogene. Several alternatively spliced transcript variants of this gene have been found, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","ZNF804A","chr2",185802572,185802572,"NM_194250","G","A","missense","SNM","NA","NA","NA","c.2449G>A","p.G817S","NA","NA","NA","NA","NA",0.442308,46,0,37,"NA","NA","NA","NA","SOMATIC","NA","NM_194250",0.171893011,0.010568,0.4510267,"zinc finger protein 804A","C2orf10","The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]","NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","PCDHA4","chr5",140186980,140186980,"NM_018907","G","A","missense","SNM","NA","NA","NA","c.208G>A","p.G70S"," Cadherin 1.","NA","NA","NA","NA",0.2,27,0,10,"NA","NA","NA","NA","SOMATIC","NA","NM_018907",2.30995233,0.3856255,8.6348146,"protocadherin alpha 4","Cnr1, Crnr1, R75250",null,"NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","PCDHA4","chr5",140186990,140186990,"NM_018907","G","A","missense","SNM","NA","NA","NA","c.218G>A","p.G73D"," Cadherin 1.","NA","NA","NA","NA",0.214286,25,0,10,"NA","NA","NA","NA","SOMATIC","NA","NM_018907",2.30995233,0.3856255,8.6348146,"protocadherin alpha 4","Cnr1, Crnr1, R75250",null,"NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","PRSS1","chr7",142459815,142459815,"NM_002769","G","A","missense","SNM","NA","NA","NA","c.391G>A","p.A131T"," Peptidase S1. ","NA","NA","NA","NA",0.145833,43,0,29,"NA","NA","NA","NA","SOMATIC","NA","NM_002769",2.092591773,0,0.5436422,"serine protease 1","TRP1, TRY1, TRY4, TRYP1","This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]","NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","C9orf114","chr9",131591092,131591092,"NM_016390","G","C","missense","SNM","NA","NA","NA","c.130C>G","p.L44V","NA","NA","NA","NA","NA",0.44186,38,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_016390",6.580773716,6.2047875,9.640334,"SPOUT domain containing methyltransferase 1","C9orf114, CENP-32, CENP32, HSPC109",null,"NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","APCDD1","chr18",10487952,10487952,"NM_153000","G","A","missense","SNM","NA","NA","NA","c.1462G>A","p.A488T","NA","NA","NA","NA","NA",0.5,25,0,29,"NA","NA","NA","NA","SOMATIC","NA","NM_153000",6.050456545,3.9177815,12.281291,"APC down-regulated 1","B7323, DRAPC1, FP7019, HHS, HTS, HYPT1","This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]","NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","PAFAH1B3","chr19",42804244,42804244,"NM_002573","T","C","missense","SNM","NA","NA","NA","c.286A>G","p.I96V","NA","NA","NA","NA","NA",0.4375,28,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_002573",12.80814313,11.658581,18.8309569,"platelet activating factor acetylhydrolase 1b catalytic subunit 3","PAFAHG","This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]","NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","LRP1B","chr2",141625833,141625833,"NM_018557","C","-","splicing","DEL","NA","NA","NA","c.4170_splice","e27-1","NA","NA","NA","NA","NA",0.262295,30,0,24,"NA","NA","NA","NA","SOMATIC","NA","NM_018557",0.560859034,0.0248295,1.3226049,"LDL receptor related protein 1B","LRP-1B, LRP-DIT, LRPDIT","This gene encodes a member of the low density lipoprotein (LDL) receptor family. These receptors play a wide variety of roles in normal cell function and development due to their interactions with multiple ligands. Disruption of this gene has been reported in several types of cancer. [provided by RefSeq, Jun 2016]","NA"]
["S01501","Typical","Ca A1","Ca A","NA","yes","yes","NA","PCDH12","chr5",141324956,141324956,"NM_016580","---------","CTGCTGCTG","frameshift insertion","INS","NA","NA","NA","c.3545_3546insCAGCAGCAG","p.R1182delinsSSSR","NA","NA","NA","NA","NA",0.22792,35,0,21,"NA","NA","NA","NA","SOMATIC","NA","NM_016580",1.391289068,1.1221985,2.7010506,"protocadherin 12","Pcdh14, VE-cad-2",null,"NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","KDM4A","chr1",44128638,44128638,"NM_014663","T","C","missense","SNM","NA","NA","NA","c.503T>C","p.I168T","NA","NA","NA","NA","NA",0.32,45,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_014663",11.25042749,10.9211495,18.1593623,"lysine demethylase 4A","JHDM3A, JMJD2, JMJD2A, TDRD14A","This gene is a member of the Jumonji domain 2 (JMJD2) family and encodes a protein containing a JmjN domain, a JmjC domain, a JD2H domain, two TUDOR domains, and two PHD-type zinc fingers. This nuclear protein functions as a trimethylation-specific demethylase, converting specific trimethylated histone residues to the dimethylated form, and as a transcriptional repressor. [provided by RefSeq, Apr 2009]","Demeth"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","SLC30A5","chr5",68411869,68411869,"NM_022902","A","T","missense","SNM","NA","NA","NA","c.900A>T","p.K300N","NA","NA","NA","NA","NA",0.32,45,0,31,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_022902",12.91513558,12.405773,18.441424,"solute carrier family 30 member 5","ZNT5, ZNTL1, ZTL1, ZnT-5","This gene encodes a member of the SLC30A/ZnT family of zinc transporter proteins. ZnT proteins mediate both cellular zinc efflux and zinc sequestration into membrane-bound organelles. The encoded protein plays a role in the early secretory pathway as a heterodimer with zinc transporter 6, and may also regulate zinc sequestration into secretory granules of pancreatic beta cells. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Oct 2011]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","ANKRD31","chr5",74442612,74442612,"NM_001164443","T","A","missense","SNM","NA","NA","NA","c.2624A>T","p.N875I","NA","NA","NA","NA","NA",0.315789,51,0,29,"NA","NA","NA","NA","SOMATIC","NA","NM_001164443",0.132641489,0.095925,0.2749942,"ankyrin repeat domain 31",null,"This gene encodes a protein containing multiple ankyrin repeats. Ankyrin domains function in protein-protein interactions in a variety of cellular processes. Mutations in this gene are associated with a Rett syndrome (RTT)-like phenotype. [provided by RefSeq, Apr 2017]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","FAM120B","chr6",170627695,170627695,"NM_032448","A","G","missense","SNM","NA","NA","NA","c.1217A>G","p.D406G","NA","NA","NA","NA","NA",0.218263,44,0.0212766,42,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_032448",11.53905558,11.4065395,19.3819711,"family with sequence similarity 120B","CCPG, KIAA1838, PGCC1, dJ894D12.1",null,"NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","JPH1","chr8",75227756,75227756,"NM_020647","C","T","missense","SNM","NA","NA","NA","c.479G>A","p.R160H","NA","NA","NA","NA","NA",0.259947,37,0,25,"NA","NA","NA","NA","SOMATIC","NA","NM_020647",1.113436523,0.5672645,2.7479579,"junctophilin 1","CMT2K, JP-1, JP1","Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","AMIGO2","chr12",47472272,47472272,"NM_001143668","A","T","missense","SNM","NA","NA","NA","c.514T>A","p.L172I","NA","NA","NA","NA","NA",0.413043,41,0,34,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001143668",75.07177475,63.674444,181.7122435,"adhesion molecule with Ig like domain 2","ALI1, AMIGO-2, DEGA",null,"NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","FBXL19","chr16",30939205,30939205,"NM_001099784","C","T","missense","SNM","NA","NA","NA","c.608C>T","p.P203L","NA","NA","NA","NA","NA",0.45,18,0,39,"NA","NA","NA","NA","SOMATIC","NA","NM_001099784",4.267256932,3.959689,6.6019039,"F-box and leucine rich repeat protein 19","CXXC11, Fbl19, JHDM1C","This gene encodes a member of the Skp1-Cullin-F-box family of E3 ubiquitin ligases. The encoded protein is reported to bind to the transmembrane receptor interleukin 1 receptor-like 1 and regulate its ubiquitination and degradation. This protein has been linked to the regulation of pulmonary inflammation and psoriasis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","CDC27","chr17",45216115,45216115,"NM_001114091","T","A","missense","SNM","NA","NA","NA","c.1712A>T","p.N571I","NA","NA","NA","NA","NA",0.155172,52,0.0151515,59,"NA","NA","NA","NA","SOMATIC","NA","NM_001114091",0.732752068,0.658179,1.2472214,"cell division cycle 27","ANAPC3, APC3, CDC27Hs, D0S1430E, D17S978E, H-NUC, HNUC, NUC2","The protein encoded by this gene shares strong similarity with Saccharomyces cerevisiae protein Cdc27, and the gene product of Schizosaccharomyces pombe nuc 2. This protein is a component of the anaphase-promoting complex (APC), which is composed of eight protein subunits and is highly conserved in eukaryotic cells. This complex catalyzes the formation of cyclin B-ubiquitin conjugate, which is responsible for the ubiquitin-mediated proteolysis of B-type cyclins. The protein encoded by this gene and three other members of the APC complex contain tetratricopeptide (TPR) repeats, which are important for protein-protein interactions. This protein was shown to interact with mitotic checkpoint proteins including Mad2, p55CDC and BUBR1, and it may thus be involved in controlling the timing of mitosis. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 22 and Y. [provided by RefSeq, May 2014]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","DSG2","chr18",29122514,29122514,"NM_001943","G","C","missense","SNM","NA","NA","NA","c.2033G>C","p.G678A","NA","NA","NA","NA","NA",0.238095,37,0,38,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001943",18.60176774,14.0612395,38.1730951,"desmoglein 2","CDHF5, HDGC","This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","SHANK1","chr19",51172176,51172176,"NM_016148","T","G","missense","SNM","NA","NA","NA","c.3041A>C","p.H1014P","NA","NA","NA","NA","NA",0.357143,12,0,11,"NA","NA","NA","NA","SOMATIC","NA","NM_016148",0.617584136,0.054857,2.2072067,"SH3 and multiple ankyrin repeat domains 1","Shank1a, Spank1, Sstrip","a scaffold protein in the post synaptic density that forms a complex with GKAP and PSD-95 [RGD, Feb 2006]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","DOCK11","chrX",117707859,117707859,"NM_144658","T","A","missense","SNM","NA","NA","NA","c.1267T>A","p.S423T","NA","NA","NA","NA","NA",0.341463,36,0,24,"NA","NA","NA","NA","SOMATIC","Sanger","NM_144658",2.387871011,1.0954235,4.2361707,"dedicator of cytokinesis 11","5033414A21Rik, 8030476J24, Zizimin2, sph238",null,"NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","CSTA","chr3",122044170,122044170,"NM_005213","-","C","frameshift insertion","INS","NA","NA","NA","c.30_31insC","p.P11fs","NA","NA","NA","NA","NA",0.306513,26,0,27,"NA","NA","NA","NA","SOMATIC","NA","NM_005213",1.319358659,0.3397095,2.5793485,"cystatin A","AREI, PSS4, STF1, STFA","The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins, and kininogens. This gene encodes a stefin that functions as a cysteine protease inhibitor, forming tight complexes with papain and the cathepsins B, H, and L. The protein is one of the precursor proteins of cornified cell envelope in keratinocytes and plays a role in epidermal development and maintenance. Stefins have been proposed as prognostic and diagnostic tools for cancer. [provided by RefSeq, Jul 2008]","NA"]
["S01502","Typical","Ca A1","Ca A","NA","yes","yes","NA","GPATCH1","chr19",33579038,33579038,"NM_018025","A","-","splicing","DEL","NA","NA","NA","c.74_splice","e2-2","NA","NA","NA","NA","NA",0.254777,31,0,22,"NA","NA","NA","NA","SOMATIC","NA","NM_018025",3.601657852,3.452668,5.1136224,"G-patch domain containing 1","ECGP, GPATC1",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","PDE4DIP","chr1",144856817,144856817,"NM_001198834","T","C","missense","SNM","NA","NA","NA","c.6668A>G","p.E2223G","NA","NA","NA","NA","NA",0.122807,102,0,90,"NA","NA","NA","NA","SOMATIC","NA","NM_001198834",0.712782727,0.4180515,1.6866934,"phosphodiesterase 4D interacting protein","CMYA2, MMGL","The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","FCRL6","chr1",159778967,159778967,"NM_001004310","G","A","stopgain","SNM","NA","NA","NA","c.536G>A","p.W179*"," Ig-like C2-type 2. ","NA","NA","NA","NA",0.163636,49,0,30,"NA","NA","NA","NA","SOMATIC","NA","NM_001004310",0.170259602,0.0749795,0.3347544,"Fc receptor like 6","FcRH6",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","AHCTF1","chr1",247024528,247024528,"NM_015446","A","G","missense","SNM","NA","NA","NA","c.3832T>C","p.W1278R","NA","NA","NA","NA","NA",0.375,64,0,27,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_015446",6.091257227,6.016996,8.2321202,"AT-hook containing transcription factor 1","ELYS, MST108, MSTP108, TMBS62",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","XPO1","chr2",61722605,61722605,"NM_003400","C","A","missense","SNM","NA","NA","NA","c.1032G>T","p.R344S","NA","NA","NA","NA","NA",0.444444,40,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_003400",35.98698483,36.103773,49.5031446,"exportin 1","CRM1, emb, exp1","This cell-cycle-regulated gene encodes a protein that mediates leucine-rich nuclear export signal (NES)-dependent protein transport. The protein specifically inhibits the nuclear export of Rev and U snRNAs. It is involved in the control of several cellular processes by controlling the localization of cyclin B, MPAK, and MAPKAP kinase 2. This protein also regulates NFAT and AP-1. [provided by RefSeq, Jan 2015]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","MRPL19","chr2",75873947,75873947,"NM_014763","T","C","missense","SNM","NA","NA","NA","c.14T>C","p.I5T","NA","NA","NA","NA","NA",0.265574,30,0,27,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_014763",5.115931011,4.996743,7.0603035,"mitochondrial ribosomal protein L19","L19mt, MRP-L15, MRP-L19, MRPL15, RLX1, RPML15","Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","EPC2","chr2",149501332,149501332,"NM_015630","A","G","missense","SNM","NA","NA","NA","c.455A>G","p.N152S","NA","NA","NA","NA","NA",0.581395,38,0,49,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_015630",12.83083322,12.947829,19.7442542,"enhancer of polycomb homolog 2","EPC-LIKE",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","ZBTB47","chr3",42700463,42700463,"NM_145166","A","G","missense","SNM","NA","NA","NA","c.616A>G","p.S206G","NA","NA","NA","NA","NA",0.485714,31,0,37,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_145166",4.656872886,4.0161975,8.4718279,"zinc finger and BTB domain containing 47","ZNF651",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","FAT4","chr4",126241013,126241013,"NM_024582","T","A","missense","SNM","NA","NA","NA","c.3447T>A","p.H1149Q"," Cadherin 11. ","NA","NA","NA","NA",0.396825,56,0,36,"NA","NA","NA","NA","SOMATIC","NA","NM_024582",0.234861034,0.1589745,0.4858835,"FAT atypical cadherin 4","CDHF14, CDHR11, FAT-J, FATJ, HKLLS2, NBLA00548, VMLDS2","The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","SHPRH","chr6",146267407,146267407,"NM_001042683","T","C","missense","SNM","NA","NA","NA","c.1283A>G","p.N428S","NA","NA","NA","NA","NA",0.229167,43,0,36,"NA","NA","NA","NA","SOMATIC","NA","NM_001042683",2.581234455,2.4262325,4.6139357,"SNF2 histone linker PHD RING helicase","bA545I5.2","SHPRH is a ubiquitously expressed protein that contains motifs characteristics of several DNA repair proteins, transcription factors, and helicases. SHPRH is a functional homolog of S. cerevisiae RAD5 (Unk et al., 2006 [PubMed 17108083]).[supplied by OMIM, Mar 2008]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","CNTNAP2","chr7",146818164,146818164,"NM_014141","G","A","missense","SNM","NA","NA","NA","c.848G>A","p.R283H"," Laminin G-like 1. ","NA","NA","NA","NA",0.232143,50,0,34,"NA","NA","NA","NA","SOMATIC","Sanger","NM_014141",2.701900023,0.0778165,9.4760566,"contactin associated protein like 2","AUTS15, CASPR2, CDFE, NRXN4, PTHSL1","This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2, a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and intellectual disability. [provided by RefSeq, Jul 2017]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","KIAA1432","chr9",5765708,5765708,"NM_020829","T","A","missense","SNM","NA","NA","NA","c.3047T>A","p.I1016N","NA","NA","NA","NA","NA",0.178218,40,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_020829",1.707821148,1.6838585,3.060406,"RIC1 homolog, RAB6A GEF complex partner 1","CIP150, KIAA1432, bA207C16.1",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","CTBP2","chr10",126682493,126682493,"NM_022802","A","C","stopgain","SNM","NA","NA","NA","c.2462T>G","p.L821*","NA","NA","NA","NA","NA",0.225,44,0.0192308,46,"NA","NA","NA","NA","SOMATIC","Sanger","NM_022802",0.371759205,0.03447,0.7958359,"C-terminal binding protein 2",null,"This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","LTBP2","chr14",74970249,74970249,"NM_000428","G","C","missense","SNM","NA","NA","NA","c.4643C>G","p.S1548C"," EGF-like 18; calcium-binding (Potential). ","NA","NA","NA","NA",0.410256,35,0,28,"NA","NA","NA","NA","SOMATIC","Sanger","NM_000428",5.309200159,3.201881,10.8313962,"latent transforming growth factor beta binding protein 2","C14orf141, GLC3D, LTBP3, MSPKA, MSTP031, WMS3","The protein encoded by this gene belongs to the family of latent transforming growth factor (TGF)-beta binding proteins (LTBP), which are extracellular matrix proteins with multi-domain structure. This protein is the largest member of the LTBP family possessing unique regions and with most similarity to the fibrillins. It has thus been suggested that it may have multiple functions: as a member of the TGF-beta latent complex, as a structural component of microfibrils, and a role in cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","HERC2","chr15",28508112,28508112,"NM_004667","C","A","stopgain","SNM","NA","NA","NA","c.2074G>T","p.G692*","NA","NA","NA","NA","NA",0.45,44,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_004667",4.80594217,4.5469645,7.4471393,"HECT and RLD domain containing E3 ubiquitin protein ligase 2","D15F37S1, MRT38, SHEP1, jdf2, p528","This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","GOLGA8A","chr15",34673701,34673701,"NM_181077","T","C","missense","SNM","NA","NA","NA","c.1723A>G","p.M575V","NA","NA","NA","NA","NA",0.209677,55,0,41,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_181077",5.402844932,3.70389,10.5808054,"golgin A8 family member A","GM88, GOLGA8B","The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked, flattened membrane sacs referred to as cisternae. Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. The golgins constitute a family of proteins which are localized to the Golgi. This gene encodes a golgin which structurally resembles its family member GOLGA2, suggesting that they may share a similar function. There are many similar copies of this gene on chromosome 15. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","SREBF1","chr17",17716899,17716899,"NM_001005291","C","T","missense","SNM","NA","NA","NA","c.3176G>A","p.R1059Q","NA","NA","NA","NA","NA",0.212121,29,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001005291",7.899245239,6.4359695,16.0221808,"sterol regulatory element binding transcription factor 1","SREBP1, bHLHd1","This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","C17orf96","chr17",36829700,36829700,"NM_001130677","G","A","missense","SNM","NA","NA","NA","c.1049C>T","p.A350V","NA","NA","NA","NA","NA",0.434783,20,0,18,"NA","NA","NA","NA","SOMATIC","NA","NM_001130677",2.543947875,2.314742,4.4551509,"elongin BC and polycomb repressive complex 2 associated protein","C17orf96, PRR28",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","HDAC5","chr17",42164072,42164072,"NM_001015053","G","A","stopgain","SNM","NA","NA","NA","c.1921C>T","p.Q641*","NA","NA","NA","NA","NA",0.4375,28,0,22,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001015053",13.16025832,13.1391075,19.0472406,"histone deacetylase 5","HD5, NY-CO-9","Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to the class II histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. It coimmunoprecipitates only with HDAC3 family member and might form multicomplex proteins. It also interacts with myocyte enhancer factor-2 (MEF2) proteins, resulting in repression of MEF2-dependent genes. This gene is thought to be associated with colon cancer. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","KRI1","chr19",10676617,10676617,"NM_023008","T","A","missense","SNM","NA","NA","NA","c.77A>T","p.Y26F","NA","NA","NA","NA","NA",0.405405,33,0,24,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_023008",8.763246534,8.0593165,12.2016124,"Kri1p","YNL308C",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","SUGP2","chr19",19135650,19135650,"NM_014884","C","T","missense","SNM","NA","NA","NA","c.1507G>A","p.G503S","NA","NA","NA","NA","NA",0.1875,57,0,37,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_014884",13.4147532,13.1654925,19.2419309,"SURP and G-patch domain containing 2","SFRS14, SRFS14","This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","EIF6","chr20",33872101,33872101,"NM_181466","G","A","missense","SNM","NA","NA","NA","c.190C>T","p.P64S","NA","NA","NA","NA","NA",0.405405,33,0,31,"NA","NA","NA","NA","SOMATIC","NA","NM_181466",0.825275125,0.780871,1.4077667,"eukaryotic translation initiation factor 6","CAB, EIF3A, ITGB4BP, b(2)gcn, eIF-6, p27(BBP), p27BBP","Hemidesmosomes are structures which link the basal lamina to the intermediate filament cytoskeleton. An important functional component of hemidesmosomes is the integrin beta-4 subunit (ITGB4), a protein containing two fibronectin type III domains. The protein encoded by this gene binds to the fibronectin type III domains of ITGB4 and may help link ITGB4 to the intermediate filament cytoskeleton. The encoded protein, which is insoluble and found both in the nucleus and in the cytoplasm, can function as a translation initiation factor and prevent the association of the 40S and 60S ribosomal subunits. Multiple non-protein coding transcript variants and variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","SH3BGR","chr21",40883668,40883668,"NM_007341","A","G","missense","SNM","NA","NA","NA","c.686A>G","p.E229G","NA","NA","NA","NA","NA",0.116667,54,0,31,"NA","NA","NA","NA","SOMATIC","NA","NM_007341",3.556927534,2.1036255,8.4013786,"SH3 domain binding glutamate rich protein","21-GARP",null,"NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","EIF1AX","chrX",20156732,20156732,"NM_001412","C","G","missense","SNM","NA","NA","NA","c.25G>C","p.G9R","NA","NA","NA","NA","NA",0.864865,33,0,14,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001412",33.1093701,33.0572695,44.1098094,"eukaryotic translation initiation factor 1A X-linked","EIF1A, EIF1AP1, EIF4C, eIF-1A, eIF-4C","This gene encodes an essential eukaryotic translation initiation factor. The protein is required for the binding of the 43S complex (a 40S subunit, eIF2/GTP/Met-tRNAi and eIF3) to the 5' end of capped RNA. [provided by RefSeq, Jul 2008]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","TNXB","chr6",32026100,32026100,"NM_019105","G","-","frameshift deletion","DEL","NA","NA","NA","c.7560delC","p.P2520fs"," Fibronectin type-III 17. ","NA","NA","NA","NA",0.554455,50,0,24,"NA","NA","NA","NA","SOMATIC","NA","NM_019105",0.492211739,0.2445735,1.019219,"tenascin XB","EDS3, EDSCLL, EDSCLL1, HXBL, TENX, TN-X, TNX, TNXB1, TNXB2, TNXBS, VUR8, XB, XBS","This gene encodes a member of the tenascin family of extracellular matrix glycoproteins. The tenascins have anti-adhesive effects, as opposed to fibronectin which is adhesive. This protein is thought to function in matrix maturation during wound healing, and its deficiency has been associated with the connective tissue disorder Ehlers-Danlos syndrome. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. It is one of four genes in this cluster which have been duplicated. The duplicated copy of this gene is incomplete and is a pseudogene which is transcribed but does not encode a protein. The structure of this gene is unusual in that it overlaps the CREBL1 and CYP21A2 genes at its 5' and 3' ends, respectively. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01504","Typical","Ca A1","Ca A","NA","yes","yes","NA","RELN","chr7",103202401,103202402,"NM_005045","CT","--","splicing","DEL","NA","NA","NA","c.5211_splice","e36-1_-2","NA","NA","NA","NA","NA",0.290456,24,0,17,"NA","NA","NA","NA","SOMATIC","Sanger","NM_005045",0.415387068,0.005631,0.9509992,"reelin","reeler, rl",null,"NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","IL17RC","chr3",9971584,9971584,"NM_153461","G","C","splicing","SNM","NA","NA","NA","c.1369_splice","e13+3","NA","NA","NA","NA","NA",0.230769,23,0,27,"NA","NA","NA","NA","SOMATIC","NA","NM_153461",0.361751739,0.2686875,0.7749335,"interleukin 17 receptor C","CANDF9, IL17-RL, IL17RL","This gene encodes a single-pass type I membrane protein that shares similarity with the interleukin-17 receptor (IL-17RA). Unlike IL-17RA, which is predominantly expressed in hemopoietic cells, and binds with high affinity to only IL-17A, this protein is expressed in nonhemopoietic tissues, and binds both IL-17A and IL-17F with similar affinities. The proinflammatory cytokines, IL-17A and IL-17F, have been implicated in the progression of inflammatory and autoimmune diseases. Multiple alternatively spliced transcript variants encoding different isoforms have been detected for this gene, and it has been proposed that soluble, secreted proteins lacking transmembrane and intracellular domains may function as extracellular antagonists to cytokine signaling. [provided by RefSeq, Feb 2011]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","FAT4","chr4",126242319,126242319,"NM_024582","A","T","stopgain","SNM","NA","NA","NA","c.4753A>T","p.R1585*"," Cadherin 15. ","NA","NA","NA","NA",0.46875,28,0,24,"NA","NA","NA","NA","SOMATIC","NA","NM_024582",0.234861034,0.1589745,0.4858835,"FAT atypical cadherin 4","CDHF14, CDHR11, FAT-J, FATJ, HKLLS2, NBLA00548, VMLDS2","The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","DEPDC1B","chr5",59995892,59995892,"NM_018369","G","T","missense","SNM","NA","NA","NA","c.29C>A","p.P10Q","NA","NA","NA","NA","NA",0.607143,25,0,34,"NA","NA","NA","NA","SOMATIC","NA","NM_018369",0.44973042,0.2825805,0.9759063,"DEP domain containing 1B","BRCC3, XTP1",null,"NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","POM121","chr7",72413581,72413581,"NM_172020","G","A","missense","SNM","NA","NA","NA","c.2254G>A","p.V752I","NA","NA","NA","NA","NA",0.175,36,0,24,"NA","NA","NA","NA","SOMATIC","NA","NM_172020",8.748078614,8.264898,12.6800514,"POM121 transmembrane nucleoporin","P145, POM121A","This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","PLAT","chr8",42037786,42037786,"NM_000930","T","C","missense","SNM","NA","NA","NA","c.1196A>G","p.D399G"," Peptidase S1. ","NA","NA","NA","NA",0.483871,27,0,40,"NA","NA","NA","NA","SOMATIC","NA","NM_000930",11.85180026,5.963794,23.9157405,"plasminogen activator, tissue type","T-PA, TPA","This gene encodes tissue-type plasminogen activator, a secreted serine protease that converts the proenzyme plasminogen to plasmin, a fibrinolytic enzyme. The encoded preproprotein is proteolytically processed by plasmin or trypsin to generate heavy and light chains. These chains associate via disulfide linkages to form the heterodimeric enzyme. This enzyme plays a role in cell migration and tissue remodeling. Increased enzymatic activity causes hyperfibrinolysis, which manifests as excessive bleeding, while decreased activity leads to hypofibrinolysis, which can result in thrombosis or embolism. Alternative splicing of this gene results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","ATAD2","chr8",124346452,124346452,"NM_014109","T","C","missense","SNM","NA","NA","NA","c.3322A>G","p.R1108G","NA","NA","NA","NA","NA",0.5,34,0.0238095,37,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_014109",6.368256409,4.483525,11.7586263,"ATPase family, AAA domain containing 2","ANCCA, CT137, PRO2000","A large family of ATPases has been described, whose key feature is that they share a conserved region of about 220 amino acids that contains an ATP-binding site. The proteins that belong to this family either contain one or two AAA (ATPases Associated with diverse cellular Activities) domains. AAA family proteins often perform chaperone-like functions that assist in the assembly, operation, or disassembly of protein complexes. The protein encoded by this gene contains two AAA domains, as well as a bromodomain. [provided by RefSeq, Jul 2008]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","KIAA0196","chr8",126068944,126068944,"NM_014846","T","C","missense","SNM","NA","NA","NA","c.1991A>G","p.Y664C","NA","NA","NA","NA","NA",0.421053,34,0,30,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_014846",13.49646325,13.8883125,18.8787624,"KIAA0196 gene product",null,"DISCONTINUED: This record has been withdrawn by NCBI because the model on which it was based was not predicted in a later annotation.","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","PRLHR","chr10",120353985,120353985,"NM_004248","G","A","missense","SNM","NA","NA","NA","c.772C>T","p.P258S","NA","NA","NA","NA","NA",0.375,21,0,21,"NA","NA","NA","NA","SOMATIC","Sanger","NM_004248",3.214920057,0.688025,6.8323117,"prolactin releasing hormone receptor","GPR10, GR3, PrRPR","PRLHR is a 7-transmembrane domain receptor for prolactin-releasing hormone (PRLH; MIM 602663) that is highly expressed in anterior pituitary (Ozawa et al., 2002 [PubMed 11923475]).[supplied by OMIM, Mar 2008]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","MEN1","chr11",64572613,64572613,"NM_130804","G","A","stopgain","SNM","NA","NA","NA","c.1258C>T","p.R420*","NA","NA","NA","NA","NA",0.964286,25,0,28,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_130804",0.002308443,0,0,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","TNFSF13B","chr13",108922751,108922751,"NM_006573","G","T","missense","SNM","NA","NA","NA","c.403G>T","p.V135F","NA","NA","NA","NA","NA",0.424242,29,0,36,"NA","NA","NA","NA","SOMATIC","Sanger","NM_006573",0.943027261,0.4417025,2.1894187,"TNF superfamily member 13b","BAFF, BLYS, CD257, DTL, TALL-1, TALL1, THANK, TNFSF20, TNLG7A, ZTNF4","The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","SLC16A5","chr17",73096455,73096455,"NM_004695","C","T","missense","SNM","NA","NA","NA","c.697C>T","p.R233W","NA","NA","NA","NA","NA",0.4,27,0,19,"NA","NA","NA","NA","SOMATIC","NA","NM_004695",0.717174409,0.342198,1.2859647,"solute carrier family 16 member 5","MCT5, MCT6","This gene encodes a member of the monocarboxylate transporter family and the major facilitator superfamily. The encoded protein is localized to the cell membrane and acts as a proton-linked transporter of bumetanide. Transport by the encoded protein is inhibited by four loop diuretics, nateglinide, thiazides, probenecid, and glibenclamide. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","SAFB","chr19",5664443,5664443,"NM_001201338","A","G","missense","SNM","NA","NA","NA","c.2327A>G","p.E776G","NA","NA","NA","NA","NA",0.590909,19,0,30,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001201338",4.313560455,4.3198195,7.1571386,"scaffold attachment factor B","HAP, HET, SAB-B1, SAF-B, SAF-B1, SAFB1","This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","SAFB","chr19",5664445,5664445,"NM_001201338","G","C","missense","SNM","NA","NA","NA","c.2329G>C","p.G777R","NA","NA","NA","NA","NA",0.583333,21,0,30,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001201338",4.313560455,4.3198195,7.1571386,"scaffold attachment factor B","HAP, HET, SAB-B1, SAF-B, SAF-B1, SAFB1","This gene encodes a DNA-binding protein which has high specificity for scaffold or matrix attachment region DNA elements (S/MAR DNA). This protein is thought to be involved in attaching the base of chromatin loops to the nuclear matrix but there is conflicting evidence as to whether this protein is a component of chromatin or a nuclear matrix protein. Scaffold attachment factors are a specific subset of nuclear matrix proteins (NMP) that specifically bind to S/MAR. The encoded protein is thought to serve as a molecular base to assemble a 'transcriptosome complex' in the vicinity of actively transcribed genes. It is involved in the regulation of heat shock protein 27 transcription, can act as an estrogen receptor co-repressor and is a candidate for breast tumorigenesis. This gene is arranged head-to-head with a similar gene whose product has the same functions. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2011]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","SLC4A11","chr20",3211398,3211398,"NM_001174090","G","T","missense","SNM","NA","NA","NA","c.1391C>A","p.P464H","NA","NA","NA","NA","NA",0.233333,27,0,23,"NA","NA","NA","NA","SOMATIC","NA","NM_001174090",0.300835909,0.125386,0.7536075,"solute carrier family 4 member 11","BTR1, CDPD1, CHED, CHED2, NABC1, dJ794I6.2","This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]","NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","ODZ1","chrX",123556292,123556292,"NM_001163278","G","T","stopgain","SNM","NA","NA","NA","c.4301C>A","p.S1434*","NA","NA","NA","NA","NA",0.3,36,0,39,"NA","NA","NA","NA","SOMATIC","NA","NM_001163278",0.785437466,0.0004375,2.2412383,"odz, odd Oz/ten-m homolog 1(Drosophila)",null,null,"NA"]
["S01510","Typical","Ca B","Ca B","NA","yes","yes","NA","ZNF654","chr3",88190033,88190036,"NM_018293","GATA","----","frameshift deletion","DEL","NA","NA","NA","c.1573_1576delGATA","p.D525fs","NA","NA","NA","NA","NA",0.539773,35,0,29,"NA","NA","NA","NA","SOMATIC","NA","NM_018293",3.289728568,3.3475995,4.4864711,"zinc finger protein 654",null,null,"NA"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","DYNC2LI1","chr2",44021669,44021669,"NM_001193464","C","A","missense","SNM","NA","NA","NA","c.394C>A","p.Q132K","NA","NA","NA","NA","NA",0.411765,30,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001193464",12.37104978,12.090067,20.2136935,"dynein cytoplasmic 2 light intermediate chain 1","CGI-60, D2LIC, LIC3","This gene encodes a protein that is a component of the dynein-2 microtubule motor protein complex that plays a role in the retrograde transport of cargo in primary cilia via the intraflagellar transport system. This gene is ubiquitously expressed and its protein, which localizes to the axoneme and Golgi apparatus, interacts directly with the cytoplasmic dynein 2 heavy chain 1 protein to form part of the multi-protein dynein-2 complex. Mutations in this gene produce defects in the dynein-2 complex which result in several types of ciliopathy including short-rib thoracic dysplasia 15 with polydactyly (SRTD15). Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]","NA"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","PRKDC","chr8",48775088,48775088,"NM_006904","G","T","missense","SNM","NA","NA","NA","c.5764C>A","p.H1922N","NA","NA","NA","NA","NA",0.264706,30,0,32,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_006904",6.18957808,6.285962,9.1673401,"protein kinase, DNA activated, catalytic polypeptide","AI326420, AU019811, DNA-PKcs, DNAPDcs, DNAPK, DNPK1, DOXNPH, HYRC1, XRCC7, dxnph, p460, scid, slip",null,"NA"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","CPXM2","chr10",125516758,125516758,"NM_198148","G","A","missense","SNM","NA","NA","NA","c.1888C>T","p.R630W","NA","NA","NA","NA","NA",0.434783,20,0,24,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_198148",29.80610694,1.6961885,45.5974837,"carboxypeptidase X, M14 family member 2","CPX2, UNQ676",null,"NA"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","SETD1B","chr12",122260698,122260698,"NM_015048","G","A","missense","SNM","NA","NA","NA","c.4084G>A","p.G1362S","NA","NA","NA","NA","NA",0.497674,21,0,16,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_015048",4.723985614,4.737569,7.0209434,"SET domain containing 1B","KMT2G, Set1B","SET1B is a component of a histone methyltransferase complex that produces trimethylated histone H3 at Lys4 (Lee et al., 2007 [PubMed 17355966]).[supplied by OMIM, Mar 2008]","Meth"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","TMEM219","chr16",29974720,29974720,"NM_001083613","G","A","splicing","SNM","NA","NA","NA","c.166_splice","e2-1","NA","NA","NA","NA","NA",0.454545,19,0,17,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001083613",66.37054953,61.630458,105.3675284,"transmembrane protein 219","IGFBP-3R",null,"NA"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","EFTUD2","chr17",42928692,42928692,"NM_004247","T","C","missense","SNM","NA","NA","NA","c.2869A>G","p.M957V","NA","NA","NA","NA","NA",0.28,22,0,28,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_004247",8.303045659,9.0338325,12.715322,"elongation factor Tu GTP binding domain containing 2","MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD","This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]","NA"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","DNAH17","chr17",76420228,76420228,"NM_173628","C","T","missense","SNM","NA","NA","NA","c.13148G>A","p.R4383H","NA","NA","NA","NA","NA",0.482759,26,0,22,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_173628",0.286037966,0.080491,0.7093764,"dynein axonemal heavy chain 17","DNAHL1, DNEL2","Dyneins are microtubule-associated motor protein complexes composed of several heavy, light, and intermediate chains. DNAH17 is a heavy chain associated with axonemal dynein (Milisav and Affara, 1998 [PubMed 9545504]).[supplied by OMIM, Mar 2008]","NA"]
["S01513","Atypical","Ca A1","LCNEC","NA","yes","yes","NA","EPHA7","chr6",94120735,94120735,"NM_004440","G","-","frameshift deletion","DEL","NA","NA","NA","c.316delC","p.L106fs","NA","NA","NA","NA","NA",0.470588,25,0,31,"NA","NA","NA","NA","SOMATIC","Sanger","NM_004440",6.001802716,1.5719835,17.9322363,"Eph receptor A7","Cek11, Ebk, Ehk3, Hek11, Mdk1",null,"NA"]
["S01526","Typical","Ca A2","Ca A","NA","yes","yes","NA","UBXN11","chr1",26608896,26608896,"NM_183008","C","G","missense","SNM","NA","NA","NA","c.1457G>C","p.C486S","NA","NA","NA","NA","NA",0.26087,20,0,14,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_183008",3.101131534,2.443361,6.0729241,"UBX domain protein 11","COA-1, PP2243, SOC, SOCI, UBXD5","This gene encodes a protein with a divergent C-terminal UBX domain. The homologous protein in the rat interacts with members of the Rnd subfamily of Rho GTPases at the cell periphery through its C-terminal region. It also interacts with several heterotrimeric G proteins through their G-alpha subunits and promotes Rho GTPase activation. It is proposed to serve a bidirectional role in the promotion and inhibition of Rho activity through upstream signaling pathways. The 3' coding sequence of this gene contains a polymoprhic region of 24 nt tandem repeats. Several transcripts containing between 1.5 and five repeat units have been reported. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01526","Typical","Ca A2","Ca A","NA","yes","yes","NA","FCGBP","chr19",40373950,40373950,"NM_003890","G","T","missense","SNM","NA","NA","NA","c.12128C>A","p.T4043N","NA","NA","NA","NA","NA",0.272727,19,0,21,"NA","NA","NA","NA","SOMATIC","NA","NM_003890",0.48075758,0.1276905,1.0355568,"Fc fragment of IgG binding protein","FC(GAMMA)BP",null,"NA"]
["S01528","Typical","Ca A1","Ca A","NA","yes","yes","NA","TEKT4","chr2",95542377,95542377,"NM_144705","C","T","missense","SNM","NA","NA","NA","c.1171C>T","p.R391C","NA","NA","NA","NA","NA",0.163934,36,0,22,"NA","NA","NA","NA","SOMATIC","NA","NM_144705",0.10135192,0.0620445,0.269979,"tektin 4",null,null,"NA"]
["S01528","Typical","Ca A1","Ca A","NA","yes","yes","NA","LRRK2","chr12",40668531,40668531,"NM_198578","T","G","splicing","SNM","NA","NA","NA","c.1801_splice","e15+2","NA","NA","NA","NA","NA",0.302521,47,0,34,"NA","NA","NA","NA","SOMATIC","Sanger","NM_198578",0.71604075,0.3326555,1.4887181,"leucine rich repeat kinase 2","AURA17, DARDARIN, PARK8, RIPK7, ROCO2","This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain. The protein is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. Mutations in this gene have been associated with Parkinson disease-8. [provided by RefSeq, Jul 2008]","NA"]
["S01528","Typical","Ca A1","Ca A","NA","yes","yes","NA","MYO1C","chr17",1386153,1386153,"NM_001080779","A","C","splicing","SNM","NA","NA","NA","c.546_splice","e5+2"," Myosin head-like.","NA","NA","NA","NA",0.382979,18,0,12,"NA","NA","NA","NA","SOMATIC","NA","NM_001080779",0.69223792,0.4882085,1.4981323,"myosin IC","C80397, MMIb, MYO1E, NMI, mm1beta, myr2","This gene encodes a member of the unconventional myosin protein family, which are actin-based molecular motors. The protein is found in the cytoplasm, and one isoform with a unique N-terminus is also found in the nucleus. The protein functions in intracellular vesicle transport to the plasma membrane. The nuclear isoform associates with RNA polymerase I and II and functions in transcription initiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01528","Typical","Ca A1","Ca A","NA","yes","yes","NA","USP6","chr17",5037195,5037195,"NM_004505","G","A","missense","SNM","NA","NA","NA","c.398G>A","p.R133K"," Rab-GAP TBC. ","NA","NA","NA","NA",0.263158,34,0.0294118,30,"NA","NA","NA","NA","SOMATIC","NA","NM_004505",0.338085193,0.2477165,0.5686605,"ubiquitin specific peptidase 6","HRP1, TRE17, TRE2, TRESMCR, Tre-2, USP6-short",null,"NA"]
["S01528","Typical","Ca A1","Ca A","NA","yes","yes","NA","SH3BGR","chr21",40883671,40883671,"NM_007341","G","A","missense","SNM","NA","NA","NA","c.689G>A","p.G230E","NA","NA","NA","NA","NA",0.315789,17,0,21,"NA","NA","NA","NA","SOMATIC","NA","NM_007341",3.556927534,2.1036255,8.4013786,"SH3 domain binding glutamate rich protein","21-GARP",null,"NA"]
["S01528","Typical","Ca A1","Ca A","NA","yes","yes","NA","TBC1D25","chrX",48398301,48398301,"NM_002536","G","T","missense","SNM","NA","NA","NA","c.116G>T","p.R39L","NA","NA","NA","NA","NA",0.928571,12,0,10,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_002536",5.358680943,5.494276,6.7050053,"TBC1 domain family member 25","MG81, OATL1","This gene encodes a protein with a TBC domain and functions as a Rab GTPase activating protein. The encoded protein is involved in the fusion of autophagosomes with endosomes and lysosomes. This gene was previously known as ornithine aminotransferase-like 1, but has no similarity to ornithine aminotransferase. [provided by RefSeq, Jan 2017]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","WDR26","chr1",224588650,224588650,"NM_025160","A","T","splicing","SNM","NA","NA","NA","c.1419_splice","e10+2","NA","NA","NA","NA","NA",0.486486,33,0,34,"NA","NA","NA","NA","SOMATIC","Sanger","NM_025160",7.279555477,7.384314,11.0279951,"WD repeat domain 26","CDW2, GID7, MIP2, SKDEAS","This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","AGT","chr1",230839939,230839939,"NM_000029","C","A","missense","SNM","NA","NA","NA","c.1269G>T","p.E423D","NA","NA","NA","NA","NA",0.571429,31,0,25,"NA","NA","NA","NA","SOMATIC","Sanger","NM_000029",33.63115908,5.6360815,30.9994304,"angiotensinogen","ANHU, SERPINA8, hFLT1","The protein encoded by this gene, pre-angiotensinogen or angiotensinogen precursor, is expressed in the liver and is cleaved by the enzyme renin in response to lowered blood pressure. The resulting product, angiotensin I, is then cleaved by angiotensin converting enzyme (ACE) to generate the physiologically active enzyme angiotensin II. The protein is involved in maintaining blood pressure and in the pathogenesis of essential hypertension and preeclampsia. Mutations in this gene are associated with susceptibility to essential hypertension, and can cause renal tubular dysgenesis, a severe disorder of renal tubular development. Defects in this gene have also been associated with non-familial structural atrial fibrillation, and inflammatory bowel disease. [provided by RefSeq, Jul 2008]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","MRAS","chr3",138091865,138091865,"NM_012219","A","G","missense","SNM","NA","NA","NA","c.140A>G","p.E47G","NA","NA","NA","NA","NA",0.380952,37,0.0263158,34,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_012219",0.770266466,0.6591595,1.7599374,"muscle RAS oncogene homolog","M-RAs, R-RAS3, RRAS3","This gene encodes a member of the Ras family of small GTPases. These membrane-associated proteins function as signal transducers in multiple processes including cell growth and differentiation, and dysregulation of Ras signaling has been associated with many types of cancer. The encoded protein may play a role in the tumor necrosis factor-alpha and MAP kinase signaling pathways. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","GBA3","chr4",22749381,22749381,"NM_020973","A","G","missense","SNM","NA","NA","NA","c.749A>G","p.H250R","NA","NA","NA","NA","NA",0.382353,30,0,41,"NA","NA","NA","NA","SOMATIC","NA","NM_020973",0.368734659,0,0.241517,"glucosylceramidase beta 3 (gene/pseudogene)","CBG, CBGL1, GLUC, KLRP","The protein encoded by this gene is an enzyme that can hydrolyze several types of glycosides. This gene is a polymorphic pseudogene, with the most common allele being the functional allele that encodes the full-length protein. Some individuals, as represented by the reference genome allele, contain a single nucleotide polymorphism that results in a premature stop codon in the coding region, and therefore this allele is pseudogenic due to the failure to produce a functional full-length protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Mar 2013]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","BAZ1B","chr7",72858450,72858450,"NM_032408","C","T","missense","SNM","NA","NA","NA","c.3854G>A","p.R1285Q","NA","NA","NA","NA","NA",0.28125,28,0,25,"NA","NA","NA","NA","SOMATIC","Sanger","NM_032408",16.91598818,16.8116625,27.1801259,"bromodomain adjacent to zinc finger domain 1B","WBSCR10, WBSCR9, WSTF","This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","ARPC1A","chr7",98951579,98951579,"NM_006409","C","T","missense","SNM","NA","NA","NA","c.548C>T","p.T183M","NA","NA","NA","NA","NA",0.5,23,0,25,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_006409",67.43602477,65.477867,89.9925464,"actin related protein 2/3 complex subunit 1A","Arc40, HEL-68, HEL-S-307, SOP2Hs, SOP2L","This gene encodes one of seven subunits of the human Arp2/3 protein complex. This subunit is a member of the SOP2 family of proteins and is most similar to the protein encoded by gene ARPC1B. The similarity between these two proteins suggests that they both may function as p41 subunit of the human Arp2/3 complex that has been implicated in the control of actin polymerization in cells. It is possible that the p41 subunit is involved in assembling and maintaining the structure of the Arp2/3 complex. Multiple versions of the p41 subunit may adapt the functions of the complex to different cell types or developmental stages. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","NUP188","chr9",131749944,131749944,"NM_015354","A","G","missense","SNM","NA","NA","NA","c.2341A>G","p.M781V","NA","NA","NA","NA","NA",0.32,22,0,26,"NA","NA","NA","NA","SOMATIC","NA","NM_015354",8.311523795,8.2313955,12.4333332,"Nup188p","YML103C",null,"NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","MCAM","chr11",119183249,119183249,"NM_006500","G","T","missense","SNM","NA","NA","NA","c.849C>A","p.S283R"," Ig-like C2-type 1. ","NA","NA","NA","NA",0.4,22,0,24,"NA","NA","NA","NA","SOMATIC","NA","NM_006500",25.42257463,19.5907825,49.8933512,"melanoma cell adhesion molecule","CD146, HEMCAM, METCAM, MUC18, MelCAM",null,"NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","ADIPOR2","chr12",1893061,1893061,"NM_024551","T","A","missense","SNM","NA","NA","NA","c.854T>A","p.L285Q","NA","NA","NA","NA","NA",0.551724,26,0,24,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_024551",19.45582467,18.610782,27.8159001,"adiponectin receptor 2","ACDCR2, PAQR2","The adiponectin receptors, ADIPOR1 (MIM 607945) and ADIPOR2, serve as receptors for globular and full-length adiponectin (MIM 605441) and mediate increased AMPK (see MIM 602739) and PPAR-alpha (PPARA; MIM 170998) ligand activities, as well as fatty acid oxidation and glucose uptake by adiponectin (Yamauchi et al., 2003 [PubMed 12802337]).[supplied by OMIM, Mar 2008]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","MYL12A","chr18",3253261,3253261,"NM_006471","A","G","missense","SNM","NA","NA","NA","c.16A>G","p.T6A","NA","NA","NA","NA","NA",0.5,32,0.0232558,38,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_006471",81.49491913,80.000618,125.6026273,"myosin light chain 12A","HEL-S-24, MLC-2B, MLCB, MRCL3, MRLC3, MYL2B","This gene encodes a nonsarcomeric myosin regulatory light chain. This protein is activated by phosphorylation and regulates smooth muscle and non-muscle cell contraction. This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8.[provided by RefSeq, Dec 2014]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","MYH14","chr19",50762398,50762398,"NM_001145809","C","T","splicing","SNM","NA","NA","NA","c.2233_splice","e18-3","NA","NA","NA","NA","NA",0.695652,20,0,27,"NA","NA","NA","NA","SOMATIC","NA","NM_001145809",0.102825352,4E-006,0.3025308,"myosin heavy chain 14","DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C, NMHC-II-C, PNMHH, myosin","This gene encodes a member of the myosin superfamily. The protein represents a conventional non-muscle myosin; it should not be confused with the unconventional myosin-14 (MYO14). Myosins are actin-dependent motor proteins with diverse functions including regulation of cytokinesis, cell motility, and cell polarity. Mutations in this gene result in one form of autosomal dominant hearing impairment. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]","NA"]
["S01529","Typical","Ca A2","Ca A","NA","yes","yes","NA","RGL3","chr19",11527700,11527700,"NM_001161616","-","A","frameshift insertion","INS","NA","NA","NA","c.181_182insT","p.Y61fs","NA","NA","NA","NA","NA",0.324074,21,0,18,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001161616",0.925448045,0.93248,1.9057637,"RGA-like protein 3","AT5G17490, AtRGL3, K3M16.60, K3M16_60, RGA-like protein 3","DELLA subfamily member involved in GA signal transduction","NA"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","KIAA1522","chr1",33234269,33234269,"NM_020888","C","T","missense","SNM","NA","NA","NA","c.479C>T","p.P160L","NA","NA","NA","NA","NA",0.214286,25,0,32,"NA","NA","NA","NA","SOMATIC","NA","NM_020888",6.361722386,3.893427,13.5315001,"KIAA1522",null,null,"NA"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","BCL11A","chr2",60689368,60689368,"NM_022893","G","C","missense","SNM","NA","NA","NA","c.679C>G","p.L227V","NA","NA","NA","NA","NA",0.228571,31,0.0232558,38,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_022893",2.428230068,1.7520105,5.0357924,"B cell CLL/lymphoma 11A","BCL11A-L, BCL11A-S, BCL11A-XL, BCL11a-M, CTIP1, DILOS, EVI9, HBFQTL5, ZNF856","This gene encodes a C2H2 type zinc-finger protein by its similarity to the mouse Bcl11a/Evi9 protein. The corresponding mouse gene is a common site of retroviral integration in myeloid leukemia, and may function as a leukemia disease gene, in part, through its interaction with BCL6. During hematopoietic cell differentiation, this gene is down-regulated. It is possibly involved in lymphoma pathogenesis since translocations associated with B-cell malignancies also deregulates its expression. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","FN1","chr2",216296654,216296654,"NM_212482","A","G","missense","SNM","NA","NA","NA","c.449T>C","p.I150T"," Fibronectin type-I 3. ","NA","NA","NA","NA",0.2,27,0,44,"NA","NA","NA","NA","SOMATIC","NA","NM_212482",6.180338955,3.167608,12.9163641,"fibronectin 1","CIG, ED-B, FINC, FN, FNZ, GFND, GFND2, LETS, MSF, SMDCF","This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]","NA"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","PCDHB16","chr5",140563763,140563763,"NM_020957","C","A","missense","SNM","NA","NA","NA","c.1629C>A","p.S543R"," Cadherin 5. ","NA","NA","NA","NA",0.36,12,0,14,"NA","NA","NA","NA","SOMATIC","NA","NM_020957",4.397403102,3.957986,8.8977032,"protocadherin beta 16","ME1, PCDH-BETA16, PCDH3X, PCDHB8a","This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]","NA"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","KRT6C","chr12",52863631,52863631,"NM_173086","C","G","missense","SNM","NA","NA","NA","c.1247G>C","p.G416A","NA","NA","NA","NA","NA",0.206897,26,0,37,"NA","NA","NA","NA","SOMATIC","NA","NM_173086",1.118350932,0,0.0312835,"keratin 6C","K6E, KRT6E, PPKNEFD","Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]","NA"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","CYP11A1","chr15",74630926,74630926,"NM_000781","T","C","missense","SNM","NA","NA","NA","c.1420A>G","p.I474V","NA","NA","NA","NA","NA",0.307692,23,0,36,"NA","NA","NA","NA","SOMATIC","NA","NM_000781",0.138304705,0.0008715,0.1053608,"cytochrome P450 family 11 subfamily A member 1","CYP11A, CYPXIA1, P450SCC","This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]","NA"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","ACAN","chr15",89402397,89402397,"NM_013227","A","G","missense","SNM","NA","NA","NA","c.6581A>G","p.D2194G","NA","NA","NA","NA","NA",0.517241,26,0,37,"NA","NA","NA","NA","SOMATIC","NA","NM_013227",0.527008295,0.1121845,1.0377776,"aggrecan","AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD","This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01536","Typical","Ca A1","Ca A","NA","yes","yes","NA","ERCC6L","chrX",71425087,71425087,"NM_017669","G","C","missense","SNM","NA","NA","NA","c.3530C>G","p.P1177R","NA","NA","NA","NA","NA",0.458333,21,0,35,"NA","NA","NA","NA","SOMATIC","Sanger","NM_017669",0.180435136,0.12684,0.3120894,"ERCC excision repair 6 like, spindle assembly checkpoint helicase","PICH, RAD26L","This gene encodes a member of the SWItch/Sucrose Non-Fermentable (SWI/SNF2) family of proteins, and contains a SNF2-like ATPase domain and a PICH family domain. One distinguishing feature of this SWI/SNF protein family member is that during interphase, the protein is excluded from the nucleus, and only associates with chromatin after the nuclear envelope has broken down. This protein is a DNA translocase that is thought to bind double-stranded DNA that is exposed to stretching forces, such as those exerted by the mitotic spindle. This protein associates with ribosomal DNA and ultra-fine DNA bridges (UFBs), fine structures that connect sister chromatids during anaphase at some sites such as fragile sites, telomeres and centromeres. This gene is required for the faithful segregation of sister chromatids during mitosis, and the ATPase activity of this protein required for the resolution of UFBs before cytokinesis. [provided by RefSeq, May 2017]","NA"]
["S01538","Typical","Ca A2","Ca A","NA","yes","yes","NA","SNRNP200","chr2",96952163,96952163,"NM_014014","G","A","missense","SNM","NA","NA","NA","c.3889C>T","p.P1297S","NA","NA","NA","NA","NA",0.310345,26,0,26,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_014014",27.83571326,27.1097735,41.2920118,"small nuclear ribonucleoprotein U5 subunit 200","ASCC3L1, BRR2, HELIC2, RP33, U5-200KD","Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]","NA"]
["S01538","Typical","Ca A2","Ca A","NA","yes","yes","NA","NIPBL","chr5",36955639,36955639,"NM_133433","G","A","missense","SNM","NA","NA","NA","c.130G>A","p.A44T","NA","NA","NA","NA","NA",0.289474,34,0,41,"NA","NA","NA","NA","SOMATIC","Sanger","NM_133433",6.820264739,6.6872555,11.9641787,"NIPBL, cohesin loading factor","CDLS, CDLS1, IDN3, IDN3-B, Scc2","This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01538","Typical","Ca A2","Ca A","NA","yes","yes","NA","SNTG1","chr8",51362234,51362234,"NM_018967","G","T","missense","SNM","NA","NA","NA","c.226G>T","p.A76S"," PDZ.","NA","NA","NA","NA",0.25,43,0,37,"NA","NA","NA","NA","SOMATIC","NA","NM_018967",2.545066057,0.969813,7.6874637,"syntrophin gamma 1","G1SYN, SYN4","The protein encoded by this gene is a member of the syntrophin family. Syntrophins are cytoplasmic peripheral membrane proteins that typically contain 2 pleckstrin homology (PH) domains, a PDZ domain that bisects the first PH domain, and a C-terminal domain that mediates dystrophin binding. This family member plays a role in mediating gamma-enolase trafficking to the plasma membrane and in enhancing its neurotrophic activity. Mutations in this gene are associated with idiopathic scoliosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]","NA"]
["S01538","Typical","Ca A2","Ca A","NA","yes","yes","NA","AHNAK2","chr14",105415643,105415643,"NM_138420","T","C","missense","SNM","NA","NA","NA","c.6145A>G","p.T2049A","NA","NA","NA","NA","NA",0.318471,15,0,15,"NA","NA","NA","NA","SOMATIC","NA","NM_138420",0.509860818,0.0978225,0.5296644,"AHNAK nucleoprotein 2","C14orf78","This gene encodes a large nucleoprotein. The encoded protein has a tripartite domain structure with a relatively short N-terminus and a long C-terminus, separated by a large body of repeats. The N-terminal PSD-95/Discs-large/ZO-1 (PDZ)-like domain is thought to function in the formation of stable homodimers. The encoded protein may play a role in calcium signaling by associating with calcium channel proteins. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]","NA"]
["S01538","Typical","Ca A2","Ca A","NA","yes","yes","NA","ECSCR","chr5",138837126,138837126,"NM_001077693","-","T","splicing","INS","NA","NA","NA","c.218_splice","e5+3","NA","NA","NA","NA","NA",0.176768,39,0,29,"NA","NA","NA","NA","SOMATIC","NA","NM_001077693",7.284842045,6.137629,14.179523,"endothelial cell surface expressed chemotaxis and apoptosis regulator","ARIA, ECSM2","The protein encoded by this gene is primarily found in endothelial cells and blood vessels, where it is involved in cell shape changes and EGF-induced cell migration. It can enhance the activation of vascular endothelial growth factor receptor-2/kinase insert domain receptor and also promote the proteolysis of internalized kinase insert domain receptor. This gene may play a role in angiogenesis-related diseases. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]","NA"]
["S01539","Typical","Ca A2","Ca A","NA","yes","yes","NA","PRKCZ","chr1",2087464,2087464,"NM_002744","G","A","missense","SNM","NA","NA","NA","c.907G>A","p.V303M"," Protein kinase.","NA","NA","NA","NA",0.32,22,0,39,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_002744",7.995781114,7.346564,13.2979804,"protein kinase C zeta","PKC-ZETA, PKC2","Protein kinase C (PKC) zeta is a member of the PKC family of serine/threonine kinases which are involved in a variety of cellular processes such as proliferation, differentiation and secretion. Unlike the classical PKC isoenzymes which are calcium-dependent, PKC zeta exhibits a kinase activity which is independent of calcium and diacylglycerol but not of phosphatidylserine. Furthermore, it is insensitive to typical PKC inhibitors and cannot be activated by phorbol ester. Unlike the classical PKC isoenzymes, it has only a single zinc finger module. These structural and biochemical properties indicate that the zeta subspecies is related to, but distinct from other isoenzymes of PKC. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S01539","Typical","Ca A2","Ca A","NA","yes","yes","NA","MUL1","chr1",20827906,20827906,"NM_024544","A","C","missense","SNM","NA","NA","NA","c.336T>G","p.D112E","NA","NA","NA","NA","NA",0.44186,38,0,44,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_024544",14.2843269,14.2985285,19.1850265,"mitochondrial E3 ubiquitin protein ligase 1","C1orf166, GIDE, MAPL, MULAN, RNF218",null,"NA"]
["S01539","Typical","Ca A2","Ca A","NA","yes","yes","NA","PCDHAC2","chr5",140348377,140348377,"NM_018899","A","G","missense","SNM","NA","NA","NA","c.2026A>G","p.I676V"," Cadherin 6.","NA","NA","NA","NA",0.428571,25,0,41,"NA","NA","NA","NA","SOMATIC","NA","NM_018899",1.983370864,1.482122,4.1187992,"protocadherin alpha subfamily C, 2","CNRc2",null,"NA"]
["S01539","Typical","Ca A2","Ca A","NA","yes","yes","NA","L3MBTL3","chr6",130363901,130363901,"NM_032438","G","A","missense","SNM","NA","NA","NA","c.57G>A","p.M19I","NA","NA","NA","NA","NA",0.5,18,0,66,"NA","NA","NA","NA","SOMATIC","NA","NM_032438",0.662148034,0.5295195,1.5415641,"L3MBTL3, histone methyl-lysine binding protein","MBT-1, MBT1","This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]","NA"]
["S01539","Typical","Ca A2","Ca A","NA","yes","yes","NA","MYH7","chr14",23896057,23896057,"NM_000257","A","C","missense","SNM","NA","NA","NA","c.1973T>G","p.L658R"," Myosin head-like. ","NA","NA","NA","NA",0.4,31,0,45,"NA","NA","NA","NA","SOMATIC","NA","NM_000257",0.124125489,0.0127935,0.1174152,"myosin heavy chain 7","CMD1S, CMH1, MPD1, MYHCB, SPMD, SPMM","Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]","NA"]
["S01539","Typical","Ca A2","Ca A","NA","yes","yes","NA","PHF8","chrX",54020129,54020129,"NM_001184896","T","C","missense","SNM","NA","NA","NA","c.1639A>G","p.S547G","NA","NA","NA","NA","NA",0.416667,21,0,42,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001184896",2.313056091,2.0698595,4.3328313,"PHD finger protein 8","JHDM1F, KDM7B, MRXSSD, ZNF422","The protein encoded by this gene is a histone lysine demethylase that preferentially acts on histones in the monomethyl or dimethyl states. The encoded protein requires Fe(2+) ion, 2-oxoglutarate, and oxygen for its catalytic activity. The protein has an N-terminal PHD finger and a central Jumonji C domain. This gene is thought to function as a transcription activator. Defects in this gene are a cause of syndromic X-linked Siderius type intellectual disability (MRXSSD) and over-expression of this gene is associated with several forms of cancer. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]","Demeth"]
["S01567","Typical","Ca B","Ca B","NA","yes","yes","NA","GALNTL6","chr4",173734775,173734775,"NM_001034845","C","T","missense","SNM","NA","NA","NA","c.824C>T","p.A275V","NA","NA","NA","NA","NA",0.5,25,0,39,"NA","NA","NA","NA","SOMATIC","NA","NM_001034845",0.280423989,0,0.0571388,"polypeptide N-acetylgalactosaminyltransferase like 6","GALNACT20, GALNT17, GalNAc-T6L",null,"NA"]
["S01567","Typical","Ca B","Ca B","NA","yes","yes","NA","TRPA1","chr8",72964874,72964874,"NM_007332","T","C","missense","SNM","NA","NA","NA","c.1771A>G","p.K591E","NA","NA","NA","NA","NA",0.472222,32,0,54,"NA","NA","NA","NA","SOMATIC","NA","NM_007332",1.598853545,0.02648,1.5587057,"transient receptor potential cation channel, subfamily A, member 1","Anktm1, TRPA1b",null,"NA"]
["S01567","Typical","Ca B","Ca B","NA","yes","yes","NA","ADRB1","chr10",115804343,115804343,"NM_000684","T","C","missense","SNM","NA","NA","NA","c.452T>C","p.V151A","NA","NA","NA","NA","NA",0.230769,23,0,36,"NA","NA","NA","NA","SOMATIC","Sanger","NM_000684",1.174912932,0.209453,3.7084155,"adrenoceptor beta 1","ADRB1R, B1AR, BETA1AR, RHR","The adrenergic receptors (subtypes alpha 1, alpha 2, beta 1, and beta 2) are a prototypic family of guanine nucleotide binding regulatory protein-coupled receptors that mediate the physiological effects of the hormone epinephrine and the neurotransmitter norepinephrine. Specific polymorphisms in this gene have been shown to affect the resting heart rate and can be involved in heart failure. [provided by RefSeq, Jul 2008]","NA"]
["S01567","Typical","Ca B","Ca B","NA","yes","yes","NA","KRAS","chr12",25368413,25368413,"NM_033360","G","A","missense","SNM","NA","NA","NA","c.532C>T","p.P178S","NA","NA","NA","NA","NA",0.317073,36,0,51,"NA","NA","NA","NA","SOMATIC","NA","NM_033360",0.971635091,0.66551,2.3275095,"KRAS proto-oncogene, GTPase","C-K-RAS, CFC2, K-RAS2A, K-RAS2B, K-RAS4A, K-RAS4B, K-Ras, KI-RAS, KRAS1, KRAS2, NS, NS3, RALD, RASK2, c-Ki-ras2","This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]","NA"]
["S01567","Typical","Ca B","Ca B","NA","yes","yes","NA","KRT6C","chr12",52863451,52863451,"NM_173086","T","C","splicing","SNM","NA","NA","NA","c.1424_splice","e8+3","NA","NA","NA","NA","NA",0.5,36,0,35,"NA","NA","NA","NA","SOMATIC","NA","NM_173086",1.118350932,0,0.0312835,"keratin 6C","K6E, KRT6E, PPKNEFD","Keratins are intermediate filament proteins responsible for the structural integrity of epithelial cells and are subdivided into epithelial keratins and hair keratins. The type II keratins are clustered in a region of chromosome 12q13. [provided by RefSeq, Jul 2009]","NA"]
["S01567","Typical","Ca B","Ca B","NA","yes","yes","NA","WDR26","chr1",224606036,224606036,"NM_025160","C","-","frameshift deletion","DEL","NA","NA","NA","c.945delG","p.R315fs","NA","NA","NA","NA","NA",0.396341,32,0,42,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_025160",7.279555477,7.384314,11.0279951,"WD repeat domain 26","CDW2, GID7, MIP2, SKDEAS","This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01567","Typical","Ca B","Ca B","NA","yes","yes","NA","USP9X","chrX",40988355,40988355,"NM_001039590","-","T","frameshift insertion","INS","NA","NA","NA","c.198_199insT","p.F67fs","NA","NA","NA","NA","NA",0.915033,15,0,29,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001039590",0.892321318,0.852978,1.4187581,"ubiquitin specific peptidase 9 X-linked","DFFRX, FAF, FAM, MRX99, MRXS99F","This gene is a member of the peptidase C19 family and encodes a protein that is similar to ubiquitin-specific proteases. Though this gene is located on the X chromosome, it escapes X-inactivation. Mutations in this gene have been associated with Turner syndrome. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01576","Carcinoid","NA","NA","NA","yes","no","NA","KIAA2018","chr3",113374330,113374330,"NM_001009899","A","G","missense","SNM","NA","NA","NA","c.6199T>C","p.F2067L","NA","NA","NA","NA","NA",0.325581,38,0,41,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001009899",2.069778375,1.863141,3.5118521,"KIAA2018 ortholog",null,null,"NA"]
["S01576","Carcinoid","NA","NA","NA","yes","no","NA","ZRANB1","chr10",126662766,126662766,"NM_017580","C","T","splicing","SNM","NA","NA","NA","c.1229_splice","e5-3","NA","NA","NA","NA","NA",0.5,46,0,42,"NA","NA","NA","NA","SOMATIC","Sanger","NM_017580",12.31434455,12.7632645,17.0131812,"zinc finger RANBP2-type containing 1","TRABID",null,"NA"]
["S01576","Carcinoid","NA","NA","NA","yes","no","NA","ATM","chr11",108201096,108201096,"NM_000051","G","T","missense","SNM","NA","NA","NA","c.7463G>T","p.C2488F"," FAT.","NA","NA","NA","NA",0.625,21,0,48,"NA","NA","NA","NA","SOMATIC","Sanger","NM_000051",4.710125057,4.3111005,7.2509602,"ATM serine/threonine kinase","AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1","The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder. [provided by RefSeq, Aug 2010]","NA"]
["S01576","Carcinoid","NA","NA","NA","yes","no","NA","DDX5","chr17",62496864,62496864,"NM_004396","T","C","missense","SNM","NA","NA","NA","c.1244A>G","p.N415S"," Helicase C-terminal.","NA","NA","NA","NA",0.529412,61,0,43,"NA","NA","NA","NA","SOMATIC","Sanger","NM_004396",202.5777996,198.8691455,273.9547113,"DEAD-box helicase 5","G17P1, HLR1, HUMP68, p68","This gene encodes a member of the DEAD box family of RNA helicases that are involved in a variety of cellular processes as a result of its role as an adaptor molecule, promoting interactions with a large number of other factors. This protein is involved in pathways that include the alteration of RNA structures, plays a role as a coregulator of transcription, a regulator of splicing, and in the processing of small noncoding RNAs. Members of this family contain nine conserved motifs, including the conserved Asp-Glu-Ala-Asp (DEAD) motif, important to ATP binding and hydrolysis as well as RNA binding and unwinding activities. Dysregulation of this gene may play a role in cancer development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2017]","NA"]
["S01576","Carcinoid","NA","NA","NA","yes","no","NA","PSIP1","chr9",15479601,15479602,"NM_001128217","CT","--","frameshift deletion","DEL","NA","NA","NA","c.540_541delAG","p.R180fs","NA","NA","NA","NA","NA",0.37037,24,0,55,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001128217",19.90581526,17.2555695,31.8343933,"PC4 and SFRS1 interacting protein 1","DFS70, LEDGF, PAIP, PSIP2, p52, p75",null,"NA"]
["S01585","Typical","Ca A2","Ca A","NA","yes","yes","NA","MDN1","chr6",90385267,90385267,"NM_014611","C","G","missense","SNM","NA","NA","NA","c.12677G>C","p.R4226T","NA","NA","NA","NA","NA",0.448276,52,0,43,"NA","NA","NA","NA","SOMATIC","Sanger","NM_014611",1.875032693,1.95586,3.2414415,"midasin AAA ATPase 1","Rea1",null,"NA"]
["S01585","Typical","Ca A2","Ca A","NA","yes","yes","NA","NIPSNAP3B","chr9",107528679,107528679,"NM_018376","A","C","missense","SNM","NA","NA","NA","c.134A>C","p.K45T","NA","NA","NA","NA","NA",0.42623,54,0,48,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_018376",2.190412125,2.177224,3.2747027,"nipsnap homolog 3B","FP944, NIPSNAP3, SNAP1","NIPSNAP3B belongs to a family of proteins with putative roles in vesicular trafficking (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]","NA"]
["S01585","Typical","Ca A2","Ca A","NA","yes","yes","NA","C14orf28","chr14",45374643,45374643,"NM_001017923","C","T","missense","SNM","NA","NA","NA","c.823C>T","p.H275Y","NA","NA","NA","NA","NA",0.32,45,0,35,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001017923",2.005686295,1.890241,3.2017711,"chromosome 14 open reading frame 28","DRIP-1, DRIP1, c14_5270",null,"NA"]
["S01585","Typical","Ca A2","Ca A","NA","yes","yes","NA","LILRB1","chr19",55147987,55147988,"NM_001081637","GA","CC","missense","DNM","NA","NA","NA","c.1696_1697delinsCC","p.E566P","NA","NA","NA","NA","NA",0.289199,37,0,23,"NA","NA","NA","NA","SOMATIC","NA","NM_001081637",0.239288148,0.093892,0.5410293,"leukocyte immunoglobulin like receptor B1","CD85J, ILT-2, ILT2, LIR-1, LIR1, MIR-7, MIR7, PIR-B, PIRB","This gene is a member of the leukocyte immunoglobulin-like receptor (LIR) family, which is found in a gene cluster at chromosomal region 19q13.4. The encoded protein belongs to the subfamily B class of LIR receptors which contain two or four extracellular immunoglobulin domains, a transmembrane domain, and two to four cytoplasmic immunoreceptor tyrosine-based inhibitory motifs (ITIMs). The receptor is expressed on immune cells where it binds to MHC class I molecules on antigen-presenting cells and transduces a negative signal that inhibits stimulation of an immune response. It is thought to control inflammatory responses and cytotoxicity to help focus the immune response and limit autoreactivity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01585","Typical","Ca A2","Ca A","NA","yes","yes","NA","NEFH","chr22",29885638,29885638,"NM_021076","T","A","missense","SNM","NA","NA","NA","c.2009T>A","p.V670E","NA","NA","NA","NA","NA",0.186207,43,0.0222222,40,"NA","NA","NA","NA","SOMATIC","NA","NM_021076",4.474669091,0.6377965,18.2812677,"neurofilament, heavy polypeptide","NF-H, NF200, Nfh, mKIAA0845",null,"NA"]
["S01587","Carcinoid","NA","NA","NA","yes","no","NA","C1orf172","chr1",27278388,27278388,"NM_152365","G","A","missense","SNM","NA","NA","NA","c.484C>T","p.P162S","NA","NA","NA","NA","NA",0.411765,15,0,26,"NA","NA","NA","NA","SOMATIC","Sanger","NM_152365",10.4907678,10.635702,14.0780355,"keratinocyte differentiation factor 1","C1orf172, ECTD12",null,"NA"]
["S01587","Carcinoid","NA","NA","NA","yes","no","NA","APC","chr5",112175547,112175547,"NM_001127510","G","A","missense","SNM","NA","NA","NA","c.4256G>A","p.S1419N","NA","NA","NA","NA","NA",0.361702,42,0,35,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001127510",0.18638775,0.153361,0.5155709,"adenomatosis polyposis coli","AI047805, AU020952, AW124434, CC1, Min, mAPC",null,"NA"]
["S01587","Carcinoid","NA","NA","NA","yes","no","NA","LGR4","chr11",27397861,27397861,"NM_018490","A","C","missense","SNM","NA","NA","NA","c.1166T>G","p.I389R","NA","NA","NA","NA","NA",0.625,43,0,33,"NA","NA","NA","NA","SOMATIC","Sanger","NM_018490",16.60030683,15.5284215,32.324141,"leucine-rich repeat-containing G protein-coupled receptor 4","9130225G07, A330106J01Rik, A930009A08Rik, Gpr48",null,"NA"]
["S01587","Carcinoid","NA","NA","NA","yes","no","NA","COPE","chr19",19017834,19017834,"NM_007263","G","C","missense","SNM","NA","NA","NA","c.378C>G","p.I126M","NA","NA","NA","NA","NA",0.448276,26,0,31,"NA","NA","NA","NA","SOMATIC","Sanger","NM_007263",113.2351222,110.0495495,167.9826059,"coatomer protein complex subunit epsilon","epsilon-COP","The product of this gene is an epsilon subunit of coatomer protein complex. Coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles. It is required for budding from Golgi membranes, and is essential for the retrograde Golgi-to-ER transport of dilysine-tagged proteins. Coatomer complex consists of at least the alpha, beta, beta', gamma, delta, epsilon and zeta subunits. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S01587","Carcinoid","NA","NA","NA","yes","no","NA","MEN1","chr11",64577330,64577330,"NM_130804","-","A","frameshift insertion","INS","NA","NA","NA","c.252_253insT","p.I85fs","NA","NA","NA","NA","NA",1.11111,24,0,27,"NA","NA","NA","NA","SOMATIC","Manual_Inspection","NM_130804",0.002308443,0,0,"menin 1","MEAI, SCG2","This gene encodes menin, a putative tumor suppressor associated with a syndrome known as multiple endocrine neoplasia type 1. In vitro studies have shown menin is localized to the nucleus, possesses two functional nuclear localization signals, and inhibits transcriptional activation by JunD, however, the function of this protein is not known. Two messages have been detected on northern blots but the larger message has not been characterized. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2008]","Meth"]
["S01731","Typical","Ca A2","Ca A","NA","yes","yes","NA","STMN1","chr1",26212354,26212354,"NM_001145454","A","C","missense","SNM","NA","NA","NA","c.385T>G","p.F129V","NA","NA","NA","NA","NA",0.228571,31,0,28,"NA","NA","NA","NA","SOMATIC","NA","NM_001145454",0.622315284,0.470866,1.1140558,"stathmin 1","C1orf215, LAP18, Lag, OP18, PP17, PP19, PR22, SMN","This gene belongs to the stathmin family of genes. It encodes a ubiquitous cytosolic phosphoprotein proposed to function as an intracellular relay integrating regulatory signals of the cellular environment. The encoded protein is involved in the regulation of the microtubule filament system by destabilizing microtubules. It prevents assembly and promotes disassembly of microtubules. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]","NA"]
["S01731","Typical","Ca A2","Ca A","NA","yes","yes","NA","CNTN4","chr3",3095492,3095492,"NM_001206955","T","G","missense","SNM","NA","NA","NA","c.2813T>G","p.V938G"," Fibronectin type-III 4.","NA","NA","NA","NA",0.260331,24,0,26,"NA","NA","NA","NA","SOMATIC","NA","NM_001206955",0.258291,0.174067,0.6067278,"contactin 4","AXCAM, BIG-2","This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]","NA"]
["S01731","Typical","Ca A2","Ca A","NA","yes","yes","NA","ZFYVE28","chr4",2274921,2274921,"NM_020972","C","T","missense","SNM","NA","NA","NA","c.2302G>A","p.D768N","NA","NA","NA","NA","NA",0.411765,30,0,23,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_020972",2.552106659,2.1552775,4.5680092,"zinc finger FYVE-type containing 28","LST2, LYST2",null,"NA"]
["S01731","Typical","Ca A2","Ca A","NA","yes","yes","NA","COG3","chr13",46093165,46093165,"NM_031431","G","C","missense","SNM","NA","NA","NA","c.2090G>C","p.C697S","NA","NA","NA","NA","NA",0.393939,29,0,27,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_031431",11.0008539,10.682557,14.9123651,"component of oligomeric golgi complex 3","SEC34","This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]","NA"]
["S01731","Typical","Ca A2","Ca A","NA","yes","yes","NA","CCNF","chr16",2503525,2503525,"NM_001761","C","T","missense","SNM","NA","NA","NA","c.1702C>T","p.R568W","NA","NA","NA","NA","NA",0.333333,21,0,21,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001761",1.938349216,1.536722,3.488235,"cyclin F","FBX1, FBXO1","This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]","NA"]
["S01731","Typical","Ca A2","Ca A","NA","yes","yes","NA","COX7A1","chr19",36642569,36642569,"NM_001864","A","C","splicing","SNM","NA","NA","NA","c.102_splice","e3+2","NA","NA","NA","NA","NA",0.357143,12,0,16,"NA","NA","NA","NA","SOMATIC","NA","NM_001864",23.00479076,7.636343,77.482008,"cytochrome c oxidase subunit 7A1","COX7A, COX7AH, COX7AM","Cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain, catalyzes the electron transfer from reduced cytochrome c to oxygen. This component is a heteromeric complex consisting of 3 catalytic subunits encoded by mitochondrial genes and multiple structural subunits encoded by nuclear genes. The mitochondrially-encoded subunits function in electron transfer, and the nuclear-encoded subunits may function in the regulation and assembly of the complex. This nuclear gene encodes polypeptide 1 (muscle isoform) of subunit VIIa and the polypeptide 1 is present only in muscle tissues. Other polypeptides of subunit VIIa are present in both muscle and nonmuscle tissues, and are encoded by different genes. [provided by RefSeq, Jul 2008]","NA"]
["S01731","Typical","Ca A2","Ca A","NA","yes","yes","NA","FAM122C","chrX",133979260,133979260,"NM_001170779","G","C","missense","SNM","NA","NA","NA","c.272G>C","p.R91T","NA","NA","NA","NA","NA",0.25,36,0,30,"NA","NA","NA","NA","SOMATIC","NA","NM_001170779",0.557405375,0.5720705,0.8668924,"family with sequence similarity 122, member C","4930432H15Rik, 4930527G05Rik",null,"NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","ATAD3C","chr1",1396203,1396203,"NM_001039211","G","C","missense","SNM","NA","NA","NA","c.886G>C","p.V296L","NA","NA","NA","NA","NA",0.486486,33,0,23,"NA","NA","NA","NA","SOMATIC","NA","NM_001039211",5.641163739,4.5996425,10.9879215,"ATPase family, AAA domain containing 3C",null,null,"NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","SDC3","chr1",31351575,31351575,"NM_014654","G","A","missense","SNM","NA","NA","NA","c.151C>T","p.R51C","NA","NA","NA","NA","NA",0.238095,37,0,30,"NA","NA","NA","NA","SOMATIC","NA","NM_014654",14.82937809,12.824011,27.6509594,"syndecan 3","SDCN, SYND3","The protein encoded by this gene belongs to the syndecan proteoglycan family. It may play a role in the organization of cell shape by affecting the actin cytoskeleton, possibly by transferring signals from the cell surface in a sugar-dependent mechanism. Allelic variants of this gene have been associated with obesity. [provided by RefSeq, Oct 2009]","NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","FRMD4B","chr3",69239056,69239056,"NM_015123","A","G","missense","SNM","NA","NA","NA","c.1762T>C","p.Y588H","NA","NA","NA","NA","NA",0.134615,46,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_015123",2.677968284,2.486963,4.4290262,"FERM domain containing 4B","6030440G05Rik, GRSP1","This gene encodes a GRP1-binding protein which contains a FERM protein interaction domain as well as two coiled coil domains. This protein may play a role as a scaffolding protein. [provided by RefSeq, Mar 2014]","NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","C6orf132","chr6",42074463,42074463,"NM_001164446","A","G","missense","SNM","NA","NA","NA","c.1187T>C","p.L396P","NA","NA","NA","NA","NA",0.352941,15,0,13,"NA","NA","NA","NA","SOMATIC","NA","NM_001164446",0.320952545,0.0458825,0.7619403,"chromosome 6 open reading frame 132","bA7K24.2",null,"NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","SMARCA2","chr9",2039826,2039826,"NM_003070","C","A","missense","SNM","NA","NA","NA","c.716C>A","p.P239Q","NA","NA","NA","NA","NA",0.26087,20,0,19,"NA","NA","NA","NA","SOMATIC","Sanger","NM_003070",2.989451318,2.844722,4.9535476,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2","BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a","The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]","SWI.SNF"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","RBM26","chr13",79933794,79933794,"NM_022118","C","T","missense","SNM","NA","NA","NA","c.1445G>A","p.R482K","NA","NA","NA","NA","NA",0.155556,40,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_022118",12.31164031,11.4254255,19.9183575,"RNA binding motif protein 26","ARRS2, C13orf10, PPP1R132, PRO1777, SE70-2, ZC3H17",null,"NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","OTUB2","chr14",94503742,94503742,"NM_023112","A","G","missense","SNM","NA","NA","NA","c.20A>G","p.N7S","NA","NA","NA","NA","NA",0.421053,34,0,21,"NA","NA","NA","NA","SOMATIC","NA","NM_023112",0.7223825,0.5348665,1.4147326,"OTU deubiquitinase, ubiquitin aldehyde binding 2","C14orf137, OTB2, OTU2","This gene encodes one of several deubiquitylating enzymes. Ubiquitin modification of proteins is needed for their stability and function; to reverse the process, deubiquityling enzymes remove ubiquitin. This protein contains an OTU domain and binds Ubal (ubiquitin aldehyde); an active cysteine protease site is present in the OTU domain. [provided by RefSeq, Aug 2011]","NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","NLRC5","chr16",57080541,57080541,"NM_032206","C","T","missense","SNM","NA","NA","NA","c.3326C>T","p.P1109L","NA","NA","NA","NA","NA",0.2,31,0,33,"NA","NA","NA","NA","SOMATIC","NA","NM_032206",1.68695742,0.9482575,2.7191241,"NLR family CARD domain containing 5","CLR16.1, NOD27, NOD4","This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]","NA"]
["S01733","Typical","Ca A1","Ca A","NA","yes","yes","NA","SCAF1","chr19",50155362,50155367,"NM_021228","CCGCTC","------","frameshift deletion","DEL","NA","NA","NA","c.1716_1721delCCGCTC","p.R572_S574delinsR","NA","NA","NA","NA","NA",0.347003,31,0,15,"NA","NA","NA","NA","SOMATIC","NA","NM_021228",17.83022045,17.227207,24.8432365,"SR-related CTD associated factor 1","SRA1",null,"NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","RBM15","chr1",110884079,110884079,"NM_022768","C","A","stopgain","SNM","NA","NA","NA","c.2052C>A","p.Y684*","NA","NA","NA","NA","NA",0.273649,29,0.0322581,27,"NA","NA","NA","NA","SOMATIC","NA","NM_022768",0.6898645,0.6689855,1.1419793,"RNA binding motif protein 15","OTT, OTT1, SPEN","Members of the SPEN (Split-end) family of proteins, including RBM15, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","ZNF717","chr3",75786315,75786315,"NM_001128223","C","T","missense","SNM","NA","NA","NA","c.2459G>A","p.R820K","NA","NA","NA","NA","NA",0.169492,53,0.0188679,47,"NA","NA","NA","NA","SOMATIC","NA","NM_001128223",1.077705864,1.07056,1.7519847,"zinc finger protein 717","X17, ZNF838","This gene encodes a Kruppel-associated box (KRAB) zinc-finger protein, which belongs to a large group of transcriptional regulators in mammals. These proteins bind nucleic acids and play important roles in various cellular functions, including cell proliferation, differentiation and apoptosis, and in regulating viral replication and transcription. A pseudogene of this gene was identified on chromosome 1. [provided by RefSeq, May 2016]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","ANKRD20A4","chr9",69423700,69423700,"NM_001098805","G","A","missense","SNM","NA","NA","NA","c.1996G>A","p.E666K","NA","NA","NA","NA","NA",0.324675,15,0,11,"NA","NA","NA","NA","SOMATIC","NA","NM_001098805",0.127037364,0.0848805,0.2886519,"ankyrin repeat domain 20 family member A4",null,null,"NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","DDX11","chr12",31237978,31237978,"NM_152438","C","T","missense","SNM","NA","NA","NA","c.556C>T","p.R186W"," Helicase ATP-binding. ","NA","NA","NA","NA",0.264706,34,0.0294118,30,"NA","NA","NA","NA","SOMATIC","NA","NM_152438",0.9493825,0.793383,1.9372941,"DEAD/H-box helicase 11","CHL1, CHLR1, KRG2, WABS","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","DDX11","chr12",31242358,31242358,"NM_152438","G","A","missense","SNM","NA","NA","NA","c.814G>A","p.V272M"," Helicase ATP-binding. ","NA","NA","NA","NA",0.170213,42,0,30,"NA","NA","NA","NA","SOMATIC","NA","NM_152438",0.9493825,0.793383,1.9372941,"DEAD/H-box helicase 11","CHL1, CHLR1, KRG2, WABS","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","PHLDA1","chr12",76424952,76424952,"NM_007350","C","G","missense","SNM","NA","NA","NA","c.570G>C","p.Q190H"," PH. ","NA","NA","NA","NA",0.216216,33,0,26,"NA","NA","NA","NA","SOMATIC","NA","NM_007350",29.12037192,13.8237985,75.2305141,"pleckstrin homology like domain family A member 1","DT1P1B11, PHRIP, TDAG51","This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","PHLDA1","chr12",76424955,76424955,"NM_007350","G","T","missense","SNM","NA","NA","NA","c.567C>A","p.H189Q"," PH. ","NA","NA","NA","NA",0.19195,32,0,26,"NA","NA","NA","NA","SOMATIC","NA","NM_007350",29.12037192,13.8237985,75.2305141,"pleckstrin homology like domain family A member 1","DT1P1B11, PHRIP, TDAG51","This gene encodes an evolutionarily conserved proline-histidine rich nuclear protein. The encoded protein may play an important role in the anti-apoptotic effects of insulin-like growth factor-1. [provided by RefSeq, Jul 2008]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","SBNO1","chr12",123806153,123806153,"NM_001167856","T","C","missense","SNM","NA","NA","NA","c.2252A>G","p.K751R","NA","NA","NA","NA","NA",0.176471,45,0,43,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001167856",2.033659693,2.024294,3.1025085,"strawberry notch homolog 1","MOP3, Sno",null,"NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","ALKBH1","chr14",78140378,78140378,"NM_006020","T","C","missense","SNM","NA","NA","NA","c.947A>G","p.D316G"," Fe2OG dioxygenase.","NA","NA","NA","NA",0.176471,45,0,31,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_006020",4.809065648,4.605408,6.7626645,"alkB homolog 1, histone H2A dioxygenase","ABH, ABH1, ALKBH, alkB, hABH","This gene encodes a homolog to the E. coli alkB gene product. The E. coli alkB protein is part of the adaptive response mechanism of DNA alkylation damage repair. It is involved in damage reversal by oxidative demethylation of 1-methyladenine and 3-methylcytosine. [provided by RefSeq, Jul 2008]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","MRPS34","chr16",1822796,1822797,"NM_023936","GC","CT","splicing","DNM","NA","NA","NA","c.321_splice","e2+3_+4","NA","NA","NA","NA","NA",0.216374,33,0,17,"NA","NA","NA","NA","SOMATIC","NA","NM_023936",52.91063401,51.410666,73.3407493,"mitochondrial ribosomal protein S34","COXPD32, MRP-S12, MRP-S34, MRPS12","Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","NA"]
["S01742","Typical","Ca A1","Ca A","NA","yes","yes","NA","RSPH1","chr21",43896142,43896142,"NM_080860","C","A","missense","SNM","NA","NA","NA","c.743G>T","p.G248V","NA","NA","NA","NA","NA",0.25,32,0,23,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_080860",8.00262383,6.6018715,16.0374515,"radial spoke head component 1","CT79, RSP44, RSPH10A, TSA2, TSGA2","This gene encodes a male meiotic metaphase chromosome-associated acidic protein. This gene is expressed in tissues with motile cilia or flagella, including the trachea, lungs, airway brushings, and testes. Mutations in this gene result in primary ciliary dyskinesia-24. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2014]","NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","LOC388588","chr1",3692014,3692014,"NM_001163724","T","A","missense","SNM","NA","NA","NA","c.77T>A","p.V26E","NA","NA","NA","NA","NA",0.357143,12,0,14,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001163724",17.59965307,7.3761165,44.9547216,"small integral membrane protein 1 (Vel blood group)",null,null,"NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","LPPR4","chr1",99772076,99772076,"NM_014839","T","A","missense","SNM","NA","NA","NA","c.1802T>A","p.V601D","NA","NA","NA","NA","NA",0.53125,28,0.0286624,31,"NA","NA","NA","NA","SOMATIC","NA","NM_014839",1.006800523,0.2608245,2.0909296,"phospholipid phosphatase related 4","A330086D10, D3Bwg0562e, Lppr4, PRG-1, mKIAA0455",null,"NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","HECW2","chr2",197297876,197297876,"NM_020760","C","A","missense","SNM","NA","NA","NA","c.272G>T","p.W91L","NA","NA","NA","NA","NA",0.54717,47,0,28,"NA","NA","NA","NA","SOMATIC","Sanger","NM_020760",1.821768386,1.3183475,4.2722084,"HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2","NDHSAL, NEDL2","This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]","NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","CACNA1D","chr3",53707821,53707821,"NM_000720","C","G","missense","SNM","NA","NA","NA","c.1198C>G","p.L400V","NA","NA","NA","NA","NA",0.428571,31,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_000720",5.301536625,4.061235,13.5293168,"calcium channel, voltage-dependent, L type, alpha 1D subunit","8430418G19Rik, C79217, Cach3, Cacn4, Cacnl1a2, Cav1.3, Cchl1a, Cchl1a2, D-LTCC","This gene encodes a pore-forming subunit of the L-type, voltage-activated calcium channel family. These channels have been found to play a role in heart and smooth muscle contraction and in the transmission of auditory information. Homozygous knockout mice for this gene exhibit deafness and heart defects. These channels have also been linked to mitochondrial oxidative stress in a mouse model of Parkinson's disease. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2014]","NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","CC2D2A","chr4",15482907,15482907,"NM_001164720","T","G","stoploss","SNM","NA","NA","NA","c.334T>G","p.*112E","NA","NA","NA","NA","NA",0.285714,18,0,23,"NA","NA","NA","NA","SOMATIC","NA","NM_001164720",1.518433557,1.0137035,3.1509411,"coiled-coil and C2 domain containing 2A","JBTS9, MKS6","This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]","NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","PDE8B","chr5",76714175,76714175,"NM_003719","A","T","missense","SNM","NA","NA","NA","c.2033A>T","p.Y678F","NA","NA","NA","NA","NA",0.5,28,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_003719",7.429652261,2.0077845,24.1740284,"phosphodiesterase 8B","ADSD, PPNAD3","The protein encoded by this gene is a cyclic nucleotide phosphodiesterase (PDE) that catalyzes the hydrolysis of the second messenger cAMP. The encoded protein, which does not hydrolyze cGMP, is resistant to several PDE inhibitors. Defects in this gene are a cause of autosomal dominant striatal degeneration (ADSD). Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jul 2010]","NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","SYNE1","chr6",152776673,152776673,"NM_182961","C","T","missense","SNM","NA","NA","NA","c.2780G>A","p.R927H","NA","NA","NA","NA","NA",0.5,37,0,45,"NA","NA","NA","NA","SOMATIC","NA","NM_182961",2.004349625,0.9245565,5.1060876,"spectrin repeat containing nuclear envelope protein 1","8B, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2","This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","NFX1","chr9",33366681,33366681,"NM_002504","C","G","missense","SNM","NA","NA","NA","c.3094C>G","p.R1032G"," R3H. ","NA","NA","NA","NA",0.484848,29,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_002504",5.179357818,5.019261,7.649473,"nuclear transcription factor, X-box binding 1","NFX2, TEG-42, Tex42","MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S01746","Typical","Ca A1","Ca A","NA","yes","yes","NA","EZH1","chr17",40854896,40854896,"NM_001991","T","C","missense","SNM","NA","NA","NA","c.2182A>G","p.R728G"," SET. ","NA","NA","NA","NA",0.580645,27,0,28,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001991",11.24635891,10.604219,17.1778547,"enhancer of zeste 1 polycomb repressive complex 2 subunit","ENX-2","This gene encodes a member of the Polycomb-group (PcG) family. The encoded protein is interchangeable with the related Enhancer of zeste 2 (Ezh2) protein as a core component of the polycomb repressive complex 2 (PRC2), which methylates histone H3 at lysine 27 and results in the transcriptional repression of affected target genes. This complex is involved in carrying out cell-fate decisions during embryonic stem cell differentiation. [provided by RefSeq, Sep 2014]","Polycomb"]
["S02126","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","PALMD","chr1",100152716,100152716,"NM_017734","A","G","missense","SNM","NA","NA","NA","c.485A>G","p.E162G","NA","NA","NA","NA","NA",0.319149,42,0.0243902,36,"NA","NA","NA","NA","SOMATIC","Sanger","NM_017734",3.206468739,2.700086,6.241787,"palmdelphin","C1orf11, PALML",null,"NA"]
["S02126","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","FUT1","chr19",49254523,49254523,"NM_000148","G","T","missense","SNM","NA","NA","NA","c.16C>A","p.H6N","NA","NA","NA","NA","NA",0.44,22,0,25,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_000148",4.385075886,4.166973,6.4145553,"fucosyltransferase 1 (H blood group)","H, HH, HSC","This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]","NA"]
["S02154","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","TBC1D8","chr2",101656749,101656749,"NM_001102426","G","C","missense","SNM","NA","NA","NA","c.926C>G","p.T309R","NA","NA","NA","NA","NA",0.498674,37,0,21,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001102426",16.94186682,15.798458,22.8837588,"TBC1 domain family member 8","AD3, GRAMD8, HBLP1, TBC1D8A, VRP",null,"NA"]
["S02154","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","SPHKAP","chr2",228886448,228886448,"NM_001142644","C","T","missense","SNM","NA","NA","NA","c.676G>A","p.E226K","NA","NA","NA","NA","NA",0.428571,31,0,21,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001142644",3.054932148,0.7980835,10.3062787,"SPHK1 interactor, AKAP domain containing","SKIP",null,"NA"]
["S02154","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","INTU","chr4",128621213,128621213,"NM_015693","G","T","stopgain","SNM","NA","NA","NA","c.1498G>T","p.E500*","NA","NA","NA","NA","NA",0.325581,38,0,26,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_015693",2.46572058,2.251096,4.0118539,"inturned planar cell polarity protein","CPLANE4, INT, OFD17, PDZD6, PDZK6, SRTD20",null,"NA"]
["S02154","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","PCMTD1","chr8",52773554,52773554,"NM_052937","T","C","missense","SNM","NA","NA","NA","c.158A>G","p.D53G","NA","NA","NA","NA","NA",0.296296,48,0,26,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_052937",22.92390642,21.9566495,31.2745395,"protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1",null,null,"NA"]
["S02154","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","DHX32","chr10",127541142,127541142,"NM_018180","G","A","missense","SNM","NA","NA","NA","c.1162C>T","p.R388C","NA","NA","NA","NA","NA",0.428571,37,0,31,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_018180",9.192109966,8.367402,14.2372684,"DEAH-box helicase 32 (putative)","DDX32, DHLP1","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates 2 transcript variants, but the full length nature of one of the variants has not been defined. [provided by RefSeq, Jul 2008]","NA"]
["S02154","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","ZNF320","chr19",53384121,53384121,"NM_207333","T","A","stopgain","SNM","NA","NA","NA","c.1258A>T","p.K420*","NA","NA","NA","NA","NA",0.358974,35,0,34,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_207333",3.493471318,3.367131,5.2181434,"zinc finger protein 320","ZFPL","ZNF320 encodes a Kruppel-like zinc finger protein. Members of this protein family are involved in activation or repression of transcription.[supplied by OMIM, Jul 2002]","NA"]
["S02154","Carcinoid","Ca A1","Ca A","NA","yes","yes","NA","RLIM","chrX",73811783,73811783,"NM_016120","C","A","missense","SNM","NA","NA","NA","c.1367G>T","p.G456V","NA","NA","NA","NA","NA",0.380952,37,0,36,"NA","NA","NA","NA","SOMATIC","Sanger","NM_016120",5.396497534,5.163834,7.5433744,"ring finger protein, LIM domain interacting","MRX61, NY-REN-43, RNF12","The protein encoded by this gene is a RING-H2 zinc finger protein. It has been shown to be an E3 ubiquitin protein ligase that targets LIM domain binding 1 (LDB1/CLIM), and causes proteasome-dependent degradation of LDB1. This protein and LDB1 are co-repressors of LHX1/LIM-1, a homeodomain transcription factor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Feb 2009]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","ATAD3B","chr1",1412710,1412710,"NM_031921","G","T","stopgain","SNM","NA","NA","NA","c.262G>T","p.E88*","NA","NA","NA","NA","NA",0.612903,27,0,19,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_031921",4.491639466,4.0780585,6.776533,"ATPase family, AAA domain containing 3B","AAA-TOB3, TOB3","The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","CCDC19","chr1",159858178,159858178,"NM_012337","C","A","missense","SNM","NA","NA","NA","c.381G>T","p.R127S","NA","NA","NA","NA","NA",0.483871,27,0,28,"NA","NA","NA","NA","SOMATIC","NA","NM_012337",0.273108455,0.141688,0.5622837,"cilia and flagella associated protein 45","CCDC19, NESG1",null,"NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","FCGR3A","chr1",161518336,161518336,"NM_000569","C","T","missense","SNM","NA","NA","NA","c.302G>A","p.S101N"," Ig-like C2-type 1.","NA","NA","NA","NA",0.204545,39,0,33,"NA","NA","NA","NA","SOMATIC","NA","NM_000569",0.276413136,0,0.7253796,"Fc fragment of IgG receptor IIIa","CD16, CD16A, FCG3, FCGR3, FCGRIII, FCR-10, FCRIII, FCRIIIA, IGFR3, IMD20","This gene encodes a receptor for the Fc portion of immunoglobulin G, and it is involved in the removal of antigen-antibody complexes from the circulation, as well as other other antibody-dependent responses. This gene (FCGR3A) is highly similar to another nearby gene (FCGR3B) located on chromosome 1. The receptor encoded by this gene is expressed on natural killer (NK) cells as an integral membrane glycoprotein anchored through a transmembrane peptide, whereas FCGR3B is expressed on polymorphonuclear neutrophils (PMN) where the receptor is anchored through a phosphatidylinositol (PI) linkage. Mutations in this gene have been linked to susceptibility to recurrent viral infections, susceptibility to systemic lupus erythematosus, and alloimmune neonatal neutropenia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","PDE5A","chr4",120423794,120423794,"NM_001083","G","A","missense","SNM","NA","NA","NA","c.2348C>T","p.A783V","NA","NA","NA","NA","NA",0.134615,46,0,28,"NA","NA","NA","NA","SOMATIC","NA","NM_001083",1.213355091,0.568665,3.290325,"phosphodiesterase 5A","CGB-PDE, CN5A, PDE5","This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","C9orf174","chr9",100092984,100092984,"NM_020893","A","G","missense","SNM","NA","NA","NA","c.2341A>G","p.K781E","NA","NA","NA","NA","NA",0.170732,36,0,32,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_020893",0.44867133,0.315422,0.8847309,"coiled-coil domain containing 180","C9orf174","The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","SMARCC2","chr12",56578011,56578011,"NM_003075","A","T","missense","SNM","NA","NA","NA","c.510T>A","p.D170E","NA","NA","NA","NA","NA",0.44186,38,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_003075",14.53632969,13.413822,22.5229422,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2","BAF170, CRACC2, Rsc8","The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","TMEM132C","chr12",129189681,129189681,"NM_001136103","C","T","missense","SNM","NA","NA","NA","c.2168C>T","p.T723M","NA","NA","NA","NA","NA",0.628571,31,0,18,"NA","NA","NA","NA","SOMATIC","NA","NM_001136103",0.275177193,0.032066,0.2899904,"transmembrane protein 132C","PPP1R152",null,"NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","DDHD1","chr14",53529664,53529664,"NM_001160148","C","A","missense","SNM","NA","NA","NA","c.1763G>T","p.R588L","NA","NA","NA","NA","NA",0.409091,39,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001160148",0.644687193,0.592572,1.1204311,"DDHD domain containing 1","PA-PLA1, PAPLA1, SPG28","This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","YY1","chr14",100728718,100728718,"NM_003403","G","A","missense","SNM","NA","NA","NA","c.757G>A","p.E253K","NA","NA","NA","NA","NA",0.483871,27,0,23,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_003403",22.91997477,22.588762,29.9853744,"YY1 transcription factor","DELTA, GADEVS, INO80S, NF-E1, UCRBP, YIN-YANG-1","YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. The protein is involved in repressing and activating a diverse number of promoters.  YY1 may direct histone deacetylases and histone acetyltransferases to a promoter in order to activate or repress the promoter, thus implicating histone modification in the function of YY1. [provided by RefSeq, Jul 2008]","Polycomb"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","TBC1D24","chr16",2550353,2550353,"NM_001199107","C","A","missense","SNM","NA","NA","NA","c.1387C>A","p.P463T"," TLD.","NA","NA","NA","NA",0.5,30,0,14,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001199107",1.176938352,0.942664,2.6563641,"TBC1 domain family member 24","DFNA65, DFNB86, DOORS, EIEE16, FIME, TLDC6","This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","MMP24","chr20",33842444,33842444,"NM_006690","T","C","missense","SNM","NA","NA","NA","c.704T>C","p.F235S","NA","NA","NA","NA","NA",0.230769,46,0,26,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_006690",15.11522348,14.2600365,23.5113425,"matrix metallopeptidase 24","MMP-24, MMP25, MT-MMP 5, MT-MMP5, MT5-MMP, MT5MMP, MTMMP5","This gene encodes a member of the peptidase M10 family of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. The encoded preproprotein is proteolytically processed to generate the mature protease. Unlike most MMPs, which are secreted, this protease is a member of the membrane-type MMP (MT-MMP) subfamily, contains a transmembrane domain and is expressed at the cell surface. Substrates of this protease include the proteins cadherin 2 and matrix metallopeptidase 2 (also known as 72 kDa type IV collagenase). [provided by RefSeq, Feb 2016]","NA"]
["S02325","Typical","Ca B","Ca B","NA","yes","yes","NA","MCC","chr5",112824049,112824049,"NM_001085377","---","GCC","frameshift insertion","INS","NA","NA","NA","c.63_64insGGC","p.G21_S22insG","NA","NA","NA","NA","NA",0.416667,28,0,18,"NA","NA","NA","NA","SOMATIC","NA","NM_001085377",0.317905909,0.168996,0.6369861,"MCC, WNT signaling pathway regulator","MCC1","This gene is a candidate colorectal tumor suppressor gene that is thought to negatively regulate cell cycle progression. The orthologous gene in the mouse expresses a phosphoprotein associated with the plasma membrane and membrane organelles, and overexpression of the mouse protein inhibits entry into S phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","IGSF3","chr1",117156459,117156459,"NM_001542","C","T","missense","SNM","NA","NA","NA","c.760G>A","p.D254N"," Ig-like C2-type 2.","NA","NA","NA","NA",0.209302,38,0.0243902,36,"NA","NA","NA","NA","SOMATIC","NA","NM_001542",0.503828602,0.3230925,1.1002921,"immunoglobulin superfamily member 3","EWI-3, LCDD, V8","The protein encoded by this gene is an immunoglobulin-like membrane protein containing several V-type Ig-like domains. A mutation in this gene has been associated with bilateral nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun 2016]","NA"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","COL14A1","chr8",121383411,121383411,"NM_021110","G","T","stopgain","SNM","NA","NA","NA","c.5332G>T","p.E1778*","NA","NA","NA","NA","NA",0.355556,40,0,34,"NA","NA","NA","NA","SOMATIC","Sanger","NM_021110",3.801144364,2.1148895,7.6503241,"collagen type XIV alpha 1 chain","UND","This gene encodes the alpha chain of type XIV collagen, a member of the FACIT (fibril-associated collagens with interrupted triple helices) collagen family. Type XIV collagen interacts with the fibril surface and is involved in the regulation of fibrillogenesis. [provided by RefSeq, Jan 2013]","NA"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","MYOF","chr10",95121287,95121287,"NM_013451","C","T","missense","SNM","NA","NA","NA","c.2896G>A","p.E966K","NA","NA","NA","NA","NA",0.4,36,0,35,"NA","NA","NA","NA","SOMATIC","Sanger","NM_013451",2.548672125,1.620994,5.2818423,"myoferlin","FER1L3","Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]","NA"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","CBX6","chr22",39262549,39262549,"NM_014292","G","A","missense","SNM","NA","NA","NA","c.904C>T","p.P302S","NA","NA","NA","NA","NA",0.894118,17,0,22,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_014292",22.10535413,20.603757,41.6188125,"chromobox 6",null,null,"Polycomb"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","TCEAL2","chrX",101382424,101382424,"NM_080390","A","G","missense","SNM","NA","NA","NA","c.622A>G","p.R208G","NA","NA","NA","NA","NA",0.357143,25,0,24,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_080390",92.35990285,87.2512835,149.5809373,"transcription elongation factor A like 2","MY0876G05, WEX1, my048","This gene encodes a member of the transcription elongation factor A (SII)-like (TCEAL) gene family. Members of this family contain TFA domains and may function as nuclear phosphoproteins that modulate transcription in a promoter context-dependent manner. Multiple family members are located on the X chromosome. [provided by RefSeq, Jul 2008]","NA"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","SMARCA1","chrX",128649746,128649746,"NM_003069","A","C","missense","SNM","NA","NA","NA","c.548T>G","p.L183R","NA","NA","NA","NA","NA",0.9,27,0,23,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_003069",23.51016098,20.958068,36.4155932,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1","ISWI, NURF140, SNF2L, SNF2L1, SNF2LB, SNF2LT, SWI, SWI2, hSNF2L","This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]","SWI.SNF"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","KCNN2","chr5",113740499,113740499,"NM_021614","-","A","frameshift insertion","INS","NA","NA","NA","c.946_947insA","p.V316fs","NA","NA","NA","NA","NA",0.172414,52,0,30,"NA","NA","NA","NA","SOMATIC","NA","NM_021614",1.397211091,0.7395035,3.5689782,"potassium calcium-activated channel subfamily N member 2","KCa2.2, SK2, SKCA2, SKCa 2, hSK2","Action potentials in vertebrate neurons are followed by an afterhyperpolarization (AHP) that may persist for several seconds and may have profound consequences for the firing pattern of the neuron. Each component of the AHP is kinetically distinct and is mediated by different calcium-activated potassium channels. The protein encoded by this gene is activated before membrane hyperpolarization and is thought to regulate neuronal excitability by contributing to the slow component of synaptic AHP. This gene is a member of the KCNN family of potassium channel genes. The encoded protein is an integral membrane protein that forms a voltage-independent calcium-activated channel with three other calmodulin-binding subunits. Alternate splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]","NA"]
["S02327","Typical","Ca A1","Ca A","NA","yes","yes","NA","ZNF626","chr19",20807695,20807715,"NM_001076675","TAGTAAGGGTATAGGAGTACT","---------------------","frameshift deletion","DEL","NA","NA","NA","c.968_988delAGTACTCCTATACCCTTACTA","p.K323_T329del","NA","NA","NA","NA","NA",0.230947,43,0,33,"NA","NA","NA","NA","SOMATIC","NA","NM_001076675",2.442812023,2.0209955,4.1692878,"zinc finger protein 626",null,null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","CFHR1","chr1",196797292,196797292,"NM_002113","G","C","missense","SNM","NA","NA","NA","c.523G>C","p.E175Q"," Sushi 3. ","NA","NA","NA","NA",0.222222,24,0,13,"NA","NA","NA","NA","SOMATIC","NA","NM_002113",0.153804727,0.1137655,0.2829266,"complement factor H related 1","CFHL, CFHL1, CFHL1P, CFHR1P, FHR1, H36-1, H36-2, HFL1, HFL2","This gene encodes a secreted protein belonging to the complement factor H protein family. It binds to Pseudomonas aeruginosa elongation factor Tuf together with plasminogen, which is proteolytically activated. It is proposed that Tuf acts as a virulence factor by acquiring host proteins to the pathogen surface, controlling complement, and facilitating tissue invasion. Mutations in this gene are associated with an increased risk of atypical hemolytic-uremic syndrome. [provided by RefSeq, Oct 2009]","NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","ANKRD36B","chr2",98177148,98177148,"NM_025190","T","C","missense","SNM","NA","NA","NA","c.845A>G","p.E282G","NA","NA","NA","NA","NA",0.156863,45,0,30,"NA","NA","NA","NA","SOMATIC","NA","NM_025190",0.477203114,0.35303,0.7087742,"ankyrin repeat domain 36B","KIAA1641",null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","ANKRD36B","chr2",98177166,98177166,"NM_025190","A","G","missense","SNM","NA","NA","NA","c.827T>C","p.I276T","NA","NA","NA","NA","NA",0.1875,43,0,25,"NA","NA","NA","NA","SOMATIC","NA","NM_025190",0.477203114,0.35303,0.7087742,"ankyrin repeat domain 36B","KIAA1641",null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","PCDH7","chr4",31144276,31144276,"NM_001173523","T","A","missense","SNM","NA","NA","NA","c.3573T>A","p.N1191K","NA","NA","NA","NA","NA",0.404762,37,0,29,"NA","NA","NA","NA","SOMATIC","NA","NM_001173523",0.658537705,0.0003715,0.4339252,"protocadherin 7","BH-Pcdh, BHPCDH, PPP1R120","This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]","NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","ERBB2IP","chr5",65344516,65344516,"NM_001253699","G","T","missense","SNM","NA","NA","NA","c.1810G>T","p.D604Y","NA","NA","NA","NA","NA",0.342105,34,0,14,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001253699",1.797250295,1.6107565,3.2267122,"erbb2 interacting protein",null,null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","CD74","chr5",149784721,149784721,"NM_001025159","T","G","missense","SNM","NA","NA","NA","c.464A>C","p.Y155S","NA","NA","NA","NA","NA",0.384615,11,0,18,"NA","NA","NA","NA","SOMATIC","Sanger","NM_001025159",59.09347327,24.3641725,107.4859087,"CD74 antigen (invariant polypeptide of major histocompatibility complex, class II antigen-associated)","CLIP, DHLAG, HLADG, Ia-GAMMA, Ii",null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","ZUFSP","chr6",116968723,116968723,"NM_145062","G","C","missense","SNM","NA","NA","NA","c.1367C>G","p.P456R","NA","NA","NA","NA","NA",0.285714,25,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_145062",5.181816284,5.1480545,6.816758,"zinc finger containing ubiquitin peptidase 1","im:7145879, zgc:158611",null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","TTC18","chr10",75037988,75037988,"NM_145170","T","C","missense","SNM","NA","NA","NA","c.2557A>G","p.I853V","NA","NA","NA","NA","NA",0.297297,33,0,30,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_145170",2.954590057,2.4331025,4.8968606,"tetratricopeptide repeat domain 18",null,null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","ROBO3","chr11",124748308,124748308,"NM_022370","G","T","missense","SNM","NA","NA","NA","c.3296G>T","p.G1099V","NA","NA","NA","NA","NA",0.272727,29,0,27,"NA","NA","NA","NA","SOMATIC","NA","NM_022370",0.502524795,0.3406895,1.1871674,"roundabout guidance receptor 3","Rbig1, Rig-1, Rig1, Robo3a, Robo3b",null,"NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","NALCN","chr13",101795469,101795469,"NM_052867","G","A","missense","SNM","NA","NA","NA","c.2080C>T","p.R694C","NA","NA","NA","NA","NA",0.232558,38,0,18,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_052867",5.261604091,5.0487575,8.8550487,"sodium leak channel, non-selective","CLIFAHDD, CanIon, IHPRF, IHPRF1, INNFD, VGCNL1, bA430M15.1","This gene encodes a voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. [provided by RefSeq, Apr 2017]","NA"]
["S02330","Typical","Ca A1","Ca A","NA","yes","yes","NA","SMARCB1","chr22",24176338,24176338,"NM_003073","C","T","missense","SNM","NA","NA","NA","c.1129C>T","p.R377C","NA","NA","NA","NA","NA",0.393939,29,0,24,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_003073",28.69941819,28.21621,42.1263142,"SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1","BAF47, CSS3, INI1, MRD15, PPP1R144, RDT, RTPS1, SNF5, SNF5L1, SWNTS1, Sfh1p, Snr1, hSNFS","The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]","SWI.SNF"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","WDR35","chr2",20135311,20135311,"NM_001006657","T","A","missense","SNM","NA","NA","NA","c.2501A>T","p.E834V","NA","NA","NA","NA","NA",0.245283,47,0,40,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001006657",4.381856886,4.3261925,7.9716429,"WD repeat domain 35","CED2, IFT121, IFTA1, SRTD7","This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. Two patients with Sensenbrenner syndrome / cranioectodermal dysplasia (CED) were identified with mutations in this gene, consistent with a possible ciliary function.[provided by RefSeq, Sep 2010]","NA"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","ANKRD36B","chr2",98128472,98128472,"NM_025190","C","A","missense","SNM","NA","NA","NA","c.2849G>T","p.R950L","NA","NA","NA","NA","NA",0.2,27,0,11,"NA","NA","NA","NA","SOMATIC","NA","NM_025190",0.477203114,0.35303,0.7087742,"ankyrin repeat domain 36B","KIAA1641",null,"NA"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","ARPP21","chr3",35732425,35732425,"NM_016300","A","G","missense","SNM","NA","NA","NA","c.614A>G","p.Y205C","NA","NA","NA","NA","NA",0.519231,46,0,37,"NA","NA","NA","NA","SOMATIC","NA","NM_016300",0.160111761,0,0.3767435,"cAMP regulated phosphoprotein 21","ARPP-21, R3HDM3, RCS, TARPP","This gene encodes a cAMP-regulated phosphoprotein. The encoded protein is enriched in the caudate nucleus and cerebellar cortex. A similar protein in mouse may be involved in regulating the effects of dopamine in the basal ganglia. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012]","NA"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","SLC10A6","chr4",87749197,87749197,"NM_197965","C","G","missense","SNM","NA","NA","NA","c.710G>C","p.G237A","NA","NA","NA","NA","NA",0.228571,31,0,24,"NA","NA","NA","NA","SOMATIC","NA","NM_197965",0.115256341,0.086758,0.2639551,"solute carrier family 10 member 6","SOAT",null,"NA"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","NIPBL","chr5",37049396,37049396,"NM_133433","C","T","missense","SNM","NA","NA","NA","c.6947C>T","p.P2316L","NA","NA","NA","NA","NA",0.160714,50,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_133433",6.820264739,6.6872555,11.9641787,"NIPBL, cohesin loading factor","CDLS, CDLS1, IDN3, IDN3-B, Scc2","This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","ANLN","chr7",36447349,36447349,"NM_018685","A","T","missense","SNM","NA","NA","NA","c.880A>T","p.T294S","NA","NA","NA","NA","NA",0.142857,44,0,28,"NA","NA","NA","NA","SOMATIC","NA","NM_018685",0.744079739,0.4129015,1.5773271,"anillin actin binding protein","FSGS8, Scraps, scra","This gene encodes an actin-binding protein that plays a role in cell growth and migration, and in cytokinesis. The encoded protein is thought to regulate actin cytoskeletal dynamics in podocytes, components of the glomerulus. Mutations in this gene are associated with focal segmental glomerulosclerosis 8. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]","NA"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","JMJD1C","chr10",64968830,64968830,"NM_032776","G","T","missense","SNM","NA","NA","NA","c.2860C>A","p.H954N","NA","NA","NA","NA","NA",0.522727,39,0,36,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_032776",6.450278148,6.372355,9.7053227,"jumonji domain containing 1C","KDM3C, TRIP-8, TRIP8","The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","Demeth"]
["S02333","Typical","Ca A1","Ca A","NA","yes","yes","NA","DYNC1H1","chr14",102446721,102446721,"NM_001376","T","A","missense","SNM","NA","NA","NA","c.795T>A","p.D265E","NA","NA","NA","NA","NA",0.290323,55,0,42,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001376",23.6106237,23.169525,32.4503142,"dynein cytoplasmic 1 heavy chain 1","CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22","Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]","NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","TRIM23","chr5",64892970,64892970,"NM_001656","C","T","missense","SNM","NA","NA","NA","c.1217G>A","p.R406Q","NA","NA","NA","NA","NA",0.204082,44,0,39,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001656",7.437220273,7.135804,10.4551534,"tripartite motif containing 23","ARD1, ARFD1, RNF46","The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This protein is also a member of the ADP ribosylation factor family of guanine nucleotide-binding family of proteins. Its carboxy terminus contains an ADP-ribosylation factor domain and a guanine nucleotide binding site, while the amino terminus contains a GTPase activating protein domain which acts on the guanine nucleotide binding site. The protein localizes to lysosomes and the Golgi apparatus. It plays a role in the formation of intracellular transport vesicles, their movement from one compartment to another, and phopholipase D activation. Three alternatively spliced transcript variants for this gene have been described. [provided by RefSeq, Jul 2008]","NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","ZP3","chr7",76069902,76069902,"NM_001110354","G","C","missense","SNM","NA","NA","NA","c.1034G>C","p.R345T","NA","NA","NA","NA","NA",0.217391,41,0,22,"NA","NA","NA","NA","SOMATIC","NA","NM_001110354",2.342115682,1.709153,5.3562357,"zona pellucida glycoprotein 3","Zp-3",null,"NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","C9orf150","chr9",12775880,12775880,"NM_203403","T","G","missense","SNM","NA","NA","NA","c.166T>G","p.C56G","NA","NA","NA","NA","NA",0.189189,33,0,18,"NA","NA","NA","NA","SOMATIC","NA","NM_203403",3.005239795,2.0848575,5.7303908,"leucine rich adaptor protein 1 like","C9orf150, HYST0841, LRAP35b, bA3L8.2",null,"NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","PSMB7","chr9",127167667,127167667,"NM_002799","T","A","missense","SNM","NA","NA","NA","c.440A>T","p.D147V","NA","NA","NA","NA","NA",0.307692,35,0,28,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_002799",92.9827932,87.6977895,130.0597178,"proteasome subunit beta 7","Z","The proteasome is a multicatalytic proteinase complex with a highly ordered ring-shaped 20S core structure. The core structure is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway. The encoded protein is a member of the proteasome B-type family, also known as the T1B family, and is a 20S core beta subunit in the proteasome. Expression of this catalytic subunit is downregulated by gamma interferon, and proteolytic processing is required to generate a mature subunit. A pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Jul 2012]","NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","APBB1IP","chr10",26789790,26789790,"NM_019043","T","C","missense","SNM","NA","NA","NA","c.203T>C","p.M68T","NA","NA","NA","NA","NA",0.45,36,0,28,"NA","NA","NA","NA","SOMATIC","NA","NM_019043",0.961843318,0.427764,2.2752242,"amyloid beta precursor protein binding family B member 1 interacting protein","INAG1, PREL1, RARP1, RIAM",null,"NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","ZNF511","chr10",135123359,135123359,"NM_145806","A","G","missense","SNM","NA","NA","NA","c.307A>G","p.T103A","NA","NA","NA","NA","NA",0.384615,35,0,29,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_145806",22.76010657,19.6414445,35.7549202,"zinc finger protein 511",null,null,"NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","WDR66","chr12",122359396,122359396,"NM_144668","G","A","missense","SNM","NA","NA","NA","c.185G>A","p.G62E","NA","NA","NA","NA","NA",0.272727,19,0,11,"NA","NA","NA","NA","SOMATIC","NA","NM_144668",0.804236114,0.4672245,2.241358,"WD repeat domain 66","CFAP251, CaM-IP4","This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]","NA"]
["S02334","Typical","Ca A2","Ca A","NA","yes","yes","NA","HMG20A","chr15",77759580,77759580,"NM_018200","A","T","missense","SNM","NA","NA","NA","c.381A>T","p.E127D","NA","NA","NA","NA","NA",0.375,28,0,28,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_018200",11.3463068,11.154483,15.7566813,"high mobility group 20A","HMGX1, HMGXB1",null,"NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","ANKRD36","chr2",97911806,97911806,"NM_001164315","G","T","stopgain","SNM","NA","NA","NA","c.5482G>T","p.E1828*","NA","NA","NA","NA","NA",0.23176,23,0,15,"NA","NA","NA","NA","SOMATIC","NA","NM_001164315",1.019087398,0.7665165,1.7898121,"ankyrin repeat domain 36","1700008J08Rik, 1700012M14Rik, Ankrd48",null,"NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","PRPF40A","chr2",153515674,153515674,"NM_017892","A","C","missense","SNM","NA","NA","NA","c.2439T>G","p.H813Q","NA","NA","NA","NA","NA",0.205128,35,0,39,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_017892",11.21556114,11.119203,15.4213135,"pre-mRNA processing factor 40 homolog A","FBP-11, FBP11, FLAF1, FNBP3, HIP-10, HIP10, HYPA, NY-REN-6, Prp40",null,"NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","VILL","chr3",38048046,38048046,"NM_015873","T","C","missense","SNM","NA","NA","NA","c.2312T>C","p.V771A","NA","NA","NA","NA","NA",0.30303,29,0,43,"NA","NA","NA","NA","SOMATIC","Sanger","NM_015873",2.169743011,1.742285,4.596609,"villin like",null,"The protein encoded by this gene belongs to the villin/gelsolin family. It contains 6 gelsolin-like repeats and a headpiece domain. It may play a role in actin-bundling. [provided by RefSeq, Jul 2008]","NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","TRAIP","chr3",49881261,49881261,"NM_005879","C","G","missense","SNM","NA","NA","NA","c.381G>C","p.K127N","NA","NA","NA","NA","NA",0.4,40,0,32,"NA","NA","NA","NA","SOMATIC","NA","NM_005879",1.018677511,0.6847755,1.1249192,"TRAF interacting protein","RNF206, SCKL9, TRIP","This gene encodes a protein that contains an N-terminal RING finger motif and a putative coiled-coil domain. A similar murine protein interacts with TNFR-associated factor 1 (TRAF1), TNFR-associated factor 2 (TRAF2), and cylindromatosis. The interaction with TRAF2 inhibits TRAF2-mediated nuclear factor kappa-B, subunit 1 activation that is required for cell activation and protection against apoptosis. [provided by RefSeq, Jul 2008]","NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","EXD3","chr9",140246574,140246574,"NM_017820","C","T","missense","SNM","NA","NA","NA","c.1117G>A","p.V373I","NA","NA","NA","NA","NA",0.26087,20,0,33,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_017820",5.332032205,4.4782905,8.4471009,"exonuclease 3'-5' domain containing 3","mut-7",null,"NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","GLB1L3","chr11",134183297,134183297,"NM_001080407","G","T","missense","SNM","NA","NA","NA","c.1508G>T","p.R503L","NA","NA","NA","NA","NA",0.222222,32,0,36,"NA","NA","NA","NA","SOMATIC","NA","NM_001080407",1.135167909,0.2002895,3.7038797,"galactosidase, beta 1 like 3","4921509F24Rik",null,"NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","NCOR2","chr12",124810106,124810106,"NM_006312","G","A","missense","SNM","NA","NA","NA","c.7387C>T","p.P2463S","NA","NA","NA","NA","NA",0.376307,28,0,33,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_006312",11.23213885,9.7472125,22.2306242,"nuclear receptor corepressor 2","CTG26, N-CoR2, SMAP270, SMRT, SMRTE, SMRTE-tau, TNRC14, TRAC, TRAC-1, TRAC1","This gene encodes a nuclear receptor co-repressor that mediates transcriptional silencing of certain target genes. The encoded protein is a member of a family of thyroid hormone- and retinoic acid receptor-associated co-repressors. This protein acts as part of a multisubunit complex which includes histone deacetylases to modify chromatin structure that prevents basal transcriptional activity of target genes. Aberrant expression of this gene is associated with certain cancers. Alternate splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Apr 2011]","NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","ALG11","chr13",52602667,52602667,"NM_001004127","T","G","missense","SNM","NA","NA","NA","c.1420T>G","p.F474V","NA","NA","NA","NA","NA",0.245614,51,0,44,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001004127",4.714764784,4.399846,7.920046,"ALG11, alpha-1,2-mannosyltransferase","CDG1P, GT8","This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010]","NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","NEDD4L","chr18",55983263,55983263,"NM_001144967","C","T","missense","SNM","NA","NA","NA","c.347C>T","p.P116L","NA","NA","NA","NA","NA",0.533333,40,0,34,"NA","NA","NA","NA","SOMATIC","RNAseq","NM_001144967",1.70371567,0.945237,4.5125558,"neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase","NEDD4-2, NEDD4.2, PVNH7, RSP5, hNEDD4-2","This gene encodes a member of the Nedd4 family of HECT domain E3 ubiquitin ligases. HECT domain E3 ubiquitin ligases transfer ubiquitin from E2 ubiquitin-conjugating enzymes to protein substrates, thus targeting specific proteins for lysosomal degradation. The encoded protein mediates the ubiquitination of multiple target substrates and plays a critical role in epithelial sodium transport by regulating the cell surface expression of the epithelial sodium channel, ENaC. Single nucleotide polymorphisms in this gene may be associated with essential hypertension. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]","NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","FAM122C","chrX",133943396,133943396,"NM_001170781","C","G","missense","SNM","NA","NA","NA","c.290C>G","p.P97R","NA","NA","NA","NA","NA",0.190476,37,0,38,"NA","NA","NA","NA","SOMATIC","NA","NM_001170781",0.38057925,0.3111765,0.5631938,"family with sequence similarity 122, member C","4930432H15Rik, 4930527G05Rik",null,"NA"]
["S02337","Typical","Ca A1","Ca A","NA","yes","yes","NA","MIB2","chr1",1564789,1564789,"NM_080875","-","G","frameshift insertion","INS","NA","NA","NA","c.2750_2751insG","p.A917fs","NA","NA","NA","NA","NA",0.522876,15,0,23,"NA","NA","NA","NA","SOMATIC","Sanger","NM_080875",0.868255034,0.6864335,2.1996206,"mindbomb E3 ubiquitin protein ligase 2","ZZANK1, ZZZ5","The protein encoded by this gene is an E3 ubiquitin protein ligase that mediates ubiquitination of proteins in the Notch signaling pathway. The encoded protein may be a suppressor of melanoma invasion. [provided by RefSeq, Mar 2017]","NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","BBS9","chr7",33388781,33388781,"NM_198428","G","T","missense","SNM","NA","NA","NA","c.1431G>T","p.M477I","NA","NA","NA","NA","NA",0.186047,43,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Bardet-Biedl syndrome 9","B1, C18, D1, PTHB1","This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. The exact function of this gene has not yet been determined. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jan 2017]","NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","CLPX","chr15",65447334,65447334,"NM_006660","G","A","missense","SNM","NA","NA","NA","c.1397C>T","p.S466L","NA","NA","NA","NA","NA",0.179487,39,0,38,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase and specificity subunit of ClpX-ClpP ATP-dependent serine protease","b0438, ECK0432, JW0428, lopC","ClpX is an ATP-dependent molecular chaperone that serves as a substrate-specifying adapter for the ClpP serine protease in the ClpXP and ClpAXP protease complexes. [More information is available at EcoCyc: EG10159].","NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","DUS4L","chr7",107217900,107217900,"NM_181581","G","A","missense","SNM","NA","NA","NA","c.849G>A","p.M283I","NA","NA","NA","NA","NA",0.166667,48,0,46,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dihydrouridine synthase 4 like","DUS4, PP35",null,"NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","FNDC3A","chr13",49765190,49765190,"NM_001079673","C","T","missense","SNM","NA","NA","NA","c.1984C>T","p.P662S","NA","NA","NA","NA","NA",0.195122,41,0,41,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fibronectin type III domain containing 3A","FNDC3, HUGO, bA203I16.1, bA203I16.5",null,"NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","HKR1","chr19",37854677,37854677,"NM_181786","G","C","stoploss","SNM","NA","NA","NA","c.1980G>C","p.*660Y","NA","NA","NA","NA","NA",0.186047,43,0,35,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HKR1, GLI-Kruppel zinc finger family member","ZNF875",null,"NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","MYOM2","chr8",2057306,2057306,"NM_003970","A","T","missense","SNM","NA","NA","NA","c.3164A>T","p.E1055V","NA","NA","NA","NA","NA",0.285714,42,0,42,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myomesin 2","TTNAP","The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]","NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","NUBPL","chr14",32031398,32031398,"NM_025152","G","T","missense","SNM","NA","NA","NA","c.233G>T","p.G78V","NA","NA","NA","NA","NA",0.484848,66,0,23,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nucleotide binding protein like","C14orf127, IND1, huInd1","This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]","NA"]
["S00540","LCNEC","NA","LCNEC","NA","yes","NA","NA","RNF44","chr5",175958578,175958578,"NM_014901","T","A","missense","SNM","NA","NA","NA","c.351A>T","p.Q117H","NA","NA","NA","NA","NA",0.206897,29,0,39,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 44","AI854545, mKIAA1100",null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADCY6","chr12",49170944,49170944,"NM_015270","C","A","missense","SNM","NA","NA","NA","c.1319G>T","p.R440L","NA",0.252252,111,0.0186916,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adenylate cyclase 6","AC6, LCCS8","This gene encodes a member of the adenylyl cyclase family of proteins, which are required for the synthesis of cyclic AMP. All members of this family have an intracellular N-terminus, a tandem repeat of six transmembrane domains separated by a cytoplasmic loop, and a C-terminal cytoplasmic domain. The two cytoplasmic regions bind ATP and form the catalytic core of the protein. Adenylyl cyclases are important effectors of transmembrane signaling pathways and are regulated by the activity of G protein coupled receptor signaling. This protein belongs to a small subclass of adenylyl cyclase proteins that are functionally related and are inhibited by protein kinase A, calcium ions and nitric oxide. A mutation in this gene is associated with arthrogryposis multiplex congenita. [provided by RefSeq, May 2015]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARMCX5","chrX",101858291,101858291,"NM_001168485","C","G","missense","SNM","NA","NA","NA","c.1222C>G","p.P408A","NA",0.526316,38,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","armadillo repeat containing X-linked 5","GASP5",null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","B4GALNT3","chr12",662797,662797,"NM_173593","G","A","missense","SNM","NA","NA","NA","c.1708G>A","p.A570T","NA",0.191176,68,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","beta-1,4-N-acetyl-galactosaminyltransferase 3",null,"B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","C12orf4","chr12",4634478,4634478,"NM_020374","G","C","missense","SNM","NA","NA","NA","c.670C>G","p.Q224E","NA",0.25,135,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome 12 open reading frame 4",null,"This gene is highly conserved from nematodes to humans. In rat, the orthologous gene encodes a cytoplasmic protein that is involved in mast cell degranulation. The human gene has been implicated in autosomal recessive intellectual disability. [provided by RefSeq, Sep 2016]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","COL4A3BP","chr5",74754976,74754976,"NM_001130105","T","C","missense","SNM","NA","NA","NA","c.646A>G","p.I216V","NA",0.345588,136,0.00869565,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","collagen type IV alpha 3 binding protein","CERT, CERTL, GPBP, MRD34, STARD11","This gene encodes a kinase that specifically phosphorylates the N-terminal region of the non-collagenous domain of the alpha 3 chain of type IV collagen, known as the Goodpasture antigen. Goodpasture disease is the result of an autoimmune response directed at this antigen. One isoform of this protein is also involved in ceramide intracellular transport. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","CSGALNACT1","chr8",19362760,19362760,"NM_018371","C","A","stopgain","SNM","NA","NA","NA","c.586G>T","p.E196*","NA",0.264368,174,0.00537634,186,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chondroitin sulfate N-acetylgalactosaminyltransferase 1","CSGalNAcT-1, ChGn, ChGn-1, beta4GalNAcT","This gene encodes an enzyme that transfers N-acetylglucosamine (GalNAc) to the core tetrasaccharide linker and to elongating chondroitin sulfate chains in proteoglycans. Knockout of the orthologous mouse gene indicates that the protein is necessary for normal cartilage development and aggrecan metabolism. Mutations in this gene are associated with multiple sclerosis progression, and with mild skeletal dysplasia and joint laxity. [provided by RefSeq, Aug 2017]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","GART","chr21",34906970,34906970,"NM_000819","T","C","missense","SNM","NA","NA","NA","c.331A>G","p.K111E","NA",0.654891,368,0.0175439,171,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase","AIRS, GARS, GARTF, PAIS, PGFT, PRGS","The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","HIPK1","chr1",114483771,114483771,"NM_198268","G","C","missense","SNM","NA","NA","NA","c.766G>C","p.E256Q","NA",0.115044,112,0,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","homeodomain interacting protein kinase 1","Myak, Nbak2","The protein encoded by this gene belongs to the Ser/Thr family of protein kinases and HIPK subfamily. It phosphorylates homeodomain transcription factors and may also function as a co-repressor for homeodomain transcription factors. Alternative splicing results in four transcript variants encoding four distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIAA0226","chr3",197421255,197421255,"NM_014687","C","T","missense","SNM","NA","NA","NA","c.1675G>A","p.E559K","NA",0.213592,206,0.00568182,176,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","KIAA0226 ortholog",null,null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","LTA4H","chr12",96422929,96422929,"NM_000895","A","G","missense","SNM","NA","NA","NA","c.194T>C","p.V65A","NA",0.25,72,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leukotriene A4 hydrolase",null,"The protein encoded by this gene is an enzyme that contains both hydrolase and aminopeptidase activities. The hydrolase activity is used in the final step of the biosynthesis of leukotriene B4, a proinflammatory mediator. The aminopeptidase activity has been shown to degrade proline-glycine-proline (PGP), a neutrophil chemoattractant and biomarker for chronic obstructive pulmonary disease (COPD). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAP2K7","chr19",7976192,7976192,"NM_145185","G","A","missense","SNM","NA","NA","NA","c.913G>A","p.V305I","NA",0.229167,48,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase kinase 7","JNKK2, MAPKK7, MEK, MEK 7, MKK7, PRKMK7, SAPKK-4, SAPKK4","The protein encoded by this gene is a dual specificity protein kinase that belongs to the MAP kinase kinase family. This kinase specifically activates MAPK8/JNK1 and MAPK9/JNK2, and this kinase itself is phosphorylated and activated by MAP kinase kinase kinases including MAP3K1/MEKK1, MAP3K2/MEKK2,MAP3K3/MEKK5, and MAP4K2/GCK. This kinase is involved in the signal transduction mediating the cell responses to proinflammatory cytokines, and environmental stresses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","MFSD9","chr2",103335310,103335310,"NM_032718","C","A","missense","SNM","NA","NA","NA","c.994G>T","p.G332W","NA",0.227273,66,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","major facilitator superfamily domain containing 9",null,null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","MYB","chr6",135509011,135509011,"NM_001130173","G","C","missense","SNM","NA","NA","NA","c.181G>C","p.D61H","NA",0.296296,54,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MYB proto-oncogene, transcription factor","Cmyb, c-myb, c-myb_CDS, efg","This gene encodes a protein with three HTH DNA-binding domains that functions as a transcription regulator. This protein plays an essential role in the regulation of hematopoiesis. This gene may be aberrently expressed or rearranged or undergo translocation in leukemias and lymphomas, and is considered to be an oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLIN3","chr19",4852064,4852064,"NM_005817","C","T","missense","SNM","NA","NA","NA","c.598G>A","p.A200T","NA",0.219697,132,0.012987,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","perilipin 3","M6PRBP1, PP17, TIP47","Mannose 6-phophate receptors (MPRs) deliver lysosomal hydrolase from the Golgi to endosomes and then return to the Golgi complex. The protein encoded by this gene interacts with the cytoplasmic domains of both cation-independent and cation-dependent MPRs, and is required for endosome-to-Golgi transport. This protein also binds directly to the GTPase RAB9 (RAB9A), a member of the RAS oncogene family. The interaction with RAB9 has been shown to increase the affinity of this protein for its cargo. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Aug 2009]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","RB1","chr13",49047495,49047495,"NM_000321","G","T","splicing","SNM","NA","NA","NA","c.2490_splice","e24-1","NA",0.452055,73,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","SBF2","chr11",9867259,9867259,"NM_030962","A","T","missense","SNM","NA","NA","NA","c.2963T>A","p.V988D","NA",0.246377,69,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SET binding factor 2","CMT4B2, DENND7B, MTMR13","This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2. [provided by RefSeq, Jul 2008]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC12A7","chr5",1088465,1088465,"NM_006598","G","A","missense","SNM","NA","NA","NA","c.500C>T","p.T167I","NA",0.0924855,172,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 12 member 7","KCC4",null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMPDL3B","chr1",28285089,28285089,"NM_014474","G","T","missense","SNM","NA","NA","NA","c.1108G>T","p.A370S","NA",0.141176,85,0.0105263,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sphingomyelin phosphodiesterase, acid-like 3B","1110054A24Rik, AU045240, Asml3b",null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","SRCAP","chr16",30732530,30732530,"NM_006662","G","T","missense","SNM","NA","NA","NA","c.3274G>T","p.V1092F","NA",0.135135,111,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Snf2 related CREBBP activator protein","DOMO1, EAF1, FLHS, SWR1","This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK17B","chr2",197008290,197008290,"NM_004226","A","T","missense","SNM","NA","NA","NA","c.601T>A","p.Y201N","NA",0.217391,46,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serine/threonine kinase 17b (apoptosis-inducing)","3110009A03Rik, AI120141, Drak2",null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7579389,7579389,"NM_000546","G","A","stopgain","SNM","NA","NA","NA","c.298C>T","p.Q100*","NA",0.316667,60,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","TXNDC11","chr16",11794375,11794375,"NM_015914","A","C","missense","SNM","NA","NA","NA","c.839T>G","p.L280R","NA",0.346591,176,0,140,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thioredoxin domain containing 11","EFP1",null,"NA"]
["S00550","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF791","chr19",12738668,12738668,"NM_153358","T","A","missense","SNM","NA","NA","NA","c.325T>A","p.F109I","NA",0.164835,91,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 791",null,null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTS12","chr5",33881295,33881295,"NM_030955","G","T","missense","SNM","NA","NA","NA","c.418C>A","p.H140N","NA",0.755102,49,0.0277778,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 12","PRO4389","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","AKAP9","chr7",91712748,91712748,"NM_005751","C","G","missense","SNM","NA","NA","NA","c.8425C>G","p.Q2809E","NA",0.433333,60,0,15,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","A-kinase anchoring protein 9","AKAP-9, AKAP350, AKAP450, CG-NAP, HYPERION, LQT11, MU-RMS-40.16A, PPP1R45, PRKA9, YOTIAO","The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. Alternate splicing of this gene results in at least two isoforms that localize to the centrosome and the Golgi apparatus, and interact with numerous signaling proteins from multiple signal transduction pathways. These signaling proteins include type II protein kinase A, serine/threonine kinase protein kinase N, protein phosphatase 1, protein phosphatase 2a, protein kinase C-epsilon and phosphodiesterase 4D3. [provided by RefSeq, Aug 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","C22orf28","chr22",32804191,32804191,"NM_014306","T","C","missense","SNM","NA","NA","NA","c.211A>G","p.N71D","NA",0.593407,91,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA 2',3'-cyclic phosphate and 5'-OH ligase","C22orf28",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","CCNL1","chr3",156866313,156866313,"NM_020307","T","C","missense","SNM","NA","NA","NA","c.1298A>G","p.H433R","NA",0.25679,405,0.00806452,124,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cyclin L1","ANIA6A, BM-001, PRO1073, ania-6a",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","CIAPIN1","chr16",57467980,57467980,"NM_020313","T","C","missense","SNM","NA","NA","NA","c.532A>G","p.I178V","NA",0.351145,131,0.016129,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cytokine induced apoptosis inhibitor 1","Anamorsin, CIAE2, DRE2, PRO0915","CIAPIN1 is a cytokine-induced inhibitor of apoptosis with no relation to apoptosis regulatory molecules of the BCL2 (MIM 151430) or CASP (see MIM 147678) families. Expression of CIAPIN1 is dependent on growth factor stimulation (Shibayama et al., 2004 [PubMed 14970183]).[supplied by OMIM, Mar 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","CSDE1","chr1",115282458,115282458,"NM_001242891","A","T","missense","SNM","NA","NA","NA","c.192T>A","p.N64K","NA",0.72973,37,0,18,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cold shock domain containing E1","D1S155E, UNR",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDX3X","chrX",41204685,41204685,"NM_001356","A","G","missense","SNM","NA","NA","NA","c.1199A>G","p.Y400C","NA",0.895522,67,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAD-box helicase 3 X-linked","CAP-Rf, DBX, DDX14, DDX3, HLP2, MRX102","The protein encoded by this gene is a member of the large DEAD-box protein family, that is defined by the presence of the conserved Asp-Glu-Ala-Asp (DEAD) motif, and has ATP-dependent RNA helicase activity. This protein has been reported to display a high level of RNA-independent ATPase activity, and unlike most DEAD-box helicases, the ATPase activity is thought to be stimulated by both RNA and DNA. This protein has multiple conserved domains and is thought to play roles in both the nucleus and cytoplasm. Nuclear roles include transcriptional regulation, mRNP assembly, pre-mRNA splicing, and mRNA export. In the cytoplasm, this protein is thought to be involved in translation, cellular signaling, and viral replication. Misregulation of this gene has been implicated in tumorigenesis. This gene has a paralog located in the nonrecombining region of the Y chromosome. Pseudogenes sharing similarity to both this gene and the DDX3Y paralog are found on chromosome 4 and the X chromosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","DEDD2","chr19",42703891,42703891,"NM_133328","C","A","missense","SNM","NA","NA","NA","c.680G>T","p.R227L","NA",0.266667,60,0.0588235,17,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","death effector domain containing 2","FLAME-3, FLAME3","This gene encodes a nuclear-localized protein containing a death effector domain (DED). The encoded protein may regulate the trafficking of caspases and other proteins into the nucleus during death receptor-induced apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","DLG5","chr10",79576348,79576348,"NM_004747","G","A","missense","SNM","NA","NA","NA","c.3986C>T","p.A1329V","NA",0.551546,386,0.0163934,183,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","discs large MAGUK scaffold protein 5","LP-DLG, P-DLG5, PDLG","This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","EDC3","chr15",74932954,74932954,"NM_001142444","C","T","missense","SNM","NA","NA","NA","c.827G>A","p.G276D","NA",0.613793,145,0.0263158,76,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","enhancer of mRNA decapping 3","LSM16, MRT50, YJDC, YJEFN2, hYjeF_N2-15q23","This gene encodes a protein that is important in mRNA degradation. The encoded protein is a component of a decapping complex that promotes efficient removal of the monomethylguanosine (m7G) cap from mRNAs, as part of the 5' to 3' mRNA decay pathway. Mutations in this gene have been identified in human patients with an autosomal recessive form of intellectual disability. [provided by RefSeq, May 2017]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","EFTUD1","chr15",82422836,82422836,"NM_024580","C","A","missense","SNM","NA","NA","NA","c.3241G>T","p.A1081S","NA",0.276316,228,0,114,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","band 7 family protein","DDB_G0279689, DDBDRAFT_0205988, DDBDRAFT_0235191, DDB_0205988, DDB_0235191",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","EP300","chr22",41566521,41566521,"NM_001429","G","T","missense","SNM","NA","NA","NA","c.4398G>T","p.W1466C","NA",0.629139,151,0.015625,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","E1A binding protein p300","KAT3B, RSTS2, p300","This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","FEM1B","chr15",68583003,68583003,"NM_015322","C","T","missense","SNM","NA","NA","NA","c.1307C>T","p.A436V","NA",0.305263,95,0.0217391,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fem-1 homolog B","F1A-ALPHA, F1AA, FEM1-beta","This gene encodes an ankyrin repeat protein that belongs to the death receptor-associated family of proteins and plays a role in mediating apoptosis. The encoded protein is also thought to function in the replication stress-induced checkpoint signaling pathway via interaction with checkpoint kinase 1. [provided by RefSeq, Aug 2013]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","HIST1H2BJ","chr6",27100327,27100327,"NM_021058","T","C","missense","SNM","NA","NA","NA","c.203A>G","p.N68S","NA",0.538922,334,0.0189873,158,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone cluster 1 H2B family member j","H2B/r, H2BFR, H2BJ","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","IVNS1ABP","chr1",185276722,185276722,"NM_006469","T","C","missense","SNM","NA","NA","NA","c.430A>G","p.M144V","NA",0.383178,107,0.0434783,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","influenza virus NS1A binding protein","ARA3, FLARA3, HSPC068, KLHL39, ND1, NS-1, NS1-BP, NS1BP",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIT","chr4",55604640,55604640,"NM_000222","G","C","missense","SNM","NA","NA","NA","c.2848G>C","p.V950L","NA",0.443548,248,0.0246914,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","KIT proto-oncogene receptor tyrosine kinase","C-Kit, CD117, MASTC, PBT, SCFR","This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRRC8A","chr9",131670745,131670745,"NM_019594","G","A","missense","SNM","NA","NA","NA","c.1302G>A","p.M434I","NA",0.3,80,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat containing 8 VRAC subunit A","AGM5, LRRC8, SWELL1","This gene encodes a protein belonging to the leucine-rich repeat family of proteins, which are involved in diverse biological processes, including cell adhesion, cellular trafficking, and hormone-receptor interactions. This family member is a putative four-pass transmembrane protein that plays a role in B cell development. Defects in this gene cause autosomal dominant non-Bruton type agammaglobulinemia, an immunodeficiency disease resulting from defects in B cell maturation. Multiple alternatively spliced transcript variants, which encode the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAPKAPK2","chr1",206902104,206902104,"NM_032960","G","T","missense","SNM","NA","NA","NA","c.329G>T","p.R110L","NA",0.327273,164,0.0222222,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase-activated protein kinase 2","MAPKAP-K2, MK-2, MK2","This gene encodes a member of the Ser/Thr protein kinase family. This kinase is regulated through direct phosphorylation by p38 MAP kinase. In conjunction with p38 MAP kinase, this kinase is known to be involved in many cellular processes including stress and inflammatory responses, nuclear export, gene expression regulation and cell proliferation. Heat shock protein HSP27 was shown to be one of the substrates of this kinase in vivo. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","MED17","chr11",93535075,93535075,"NM_004268","A","G","missense","SNM","NA","NA","NA","c.1403A>G","p.N468S","NA",0.537736,105,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mediator complex subunit 17","CRSP6, CRSP77, DRIP80, SRB4, TRAP80","The activation of gene transcription is a multistep process that is triggered by factors that recognize transcriptional enhancer sites in DNA. These factors work with co-activators to direct transcriptional initiation by the RNA polymerase II apparatus. The protein encoded by this gene is a subunit of the CRSP (cofactor required for SP1 activation) complex, which, along with TFIID, is required for efficient activation by SP1. This protein is also a component of other multisubunit complexes e.g. thyroid hormone receptor-(TR-) associated proteins which interact with TR and facilitate TR function on DNA templates in conjunction with initiation factors and cofactors. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","MKRN3","chr15",23811044,23811044,"NM_005664","G","T","missense","SNM","NA","NA","NA","c.115G>T","p.G39W","NA",0.310811,74,0.0277778,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","makorin ring finger protein 3","CPPB2, D15S9, RNF63, ZFP127, ZNF127","The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","MSL3","chrX",11780306,11780306,"NM_078629","G","A","missense","SNM","NA","NA","NA","c.523G>A","p.E175K","NA",0.887324,71,0.037037,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MSL complex subunit 3","MSL3L1","This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","NDUFA4","chr7",10978475,10978475,"NM_002489","G","T","missense","SNM","NA","NA","NA","c.91C>A","p.L31M","NA",0.363636,99,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NDUFA4, mitochondrial complex associated","CI-9k, CI-MLRQ, MLRQ","The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","NFE2L1","chr17",46128745,46128745,"NM_003204","G","A","missense","SNM","NA","NA","NA","c.265G>A","p.A89T","NA",0.308271,131,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear factor, erythroid derived 2,-like 1","AA408798, AW212678, LCR-F1, Lcrf1, NRF1, TCF-11, TCF11","This gene encodes a protein that is involved in globin gene expression in erythrocytes. Confusion has occurred in bibliographic databases from the use of NRF1 for this gene, NFE2L1, and for \"nuclear respiratory factor 1\" which has an official symbol of NRF1. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","NR1H2","chr19",50881856,50881856,"NM_007121","C","T","missense","SNM","NA","NA","NA","c.550C>T","p.P184S","NA",0.54023,86,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear receptor subfamily 1, group H, member 2","AI194859, LXR, LXRB, LXRBSV, LXRbeta, NER1, OR-1, RIP15, UR, Unr, Unr2",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","NTM","chr11",132082027,132082027,"NM_001144058","A","G","missense","SNM","NA","NA","NA","c.512A>G","p.H171R","NA",0.48927,233,0.0133333,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","neurotrimin","CEPU-1, HNT, IGLON2, NTRI","This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","PALMD","chr1",100154868,100154868,"NM_017734","G","T","missense","SNM","NA","NA","NA","c.1052G>T","p.W351L","NA",0.851064,47,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","palmdelphin","C1orf11, PALML",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRSS21","chr16",2867961,2867961,"NM_006799","T","A","missense","SNM","NA","NA","NA","c.251T>A","p.F84Y","NA",0.52,75,0.04,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serine protease 21","ESP-1, ESP1, TEST1, TESTISIN","This gene encodes a cell-surface anchored serine protease, which is a member of the trypsin family of serine proteases. The encoded protein is predicted to be active on peptide linkages involving the carboxyl group of lysine or arginine. The encoded protein localizes to the cytoplasm and the plasma membrane of premeiotic testicular germ cells and may be involved in progression of testicular tumors of germ cell origin. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","RFC1","chr4",39310562,39310562,"NM_001204747","T","C","missense","SNM","NA","NA","NA","c.1579A>G","p.K527E","NA",0.533898,118,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","replication factor C subunit 1","A1, MHCBFB, PO-GA, RECC1, RFC, RFC140","This gene encodes the large subunit of replication factor C, a five subunit DNA polymerase accessory protein, which is a DNA-dependent ATPase required for eukaryotic DNA replication and repair. The large subunit acts as an activator of DNA polymerases, binds to the 3' end of primers, and promotes coordinated synthesis of both strands. It may also have a role in telomere stability. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2011]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","S100P","chr4",6695663,6695663,"NM_005980","A","G","missense","SNM","NA","NA","NA","c.4A>G","p.T2A","NA",0.380952,63,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","S100 calcium binding protein P","MIG9","The protein encoded by this gene is a member of the S100 family of proteins containing 2 EF-hand calcium-binding motifs. S100 proteins are localized in the cytoplasm and/or nucleus of a wide range of cells, and involved in the regulation of a number of cellular processes such as cell cycle progression and differentiation. S100 genes include at least 13 members which are located as a cluster on chromosome 1q21; however, this gene is located at 4p16. This protein, in addition to binding Ca2+, also binds Zn2+ and Mg2+. This protein may play a role in the etiology of prostate cancer. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","SCLT1","chr4",129864308,129864308,"NM_144643","A","T","missense","SNM","NA","NA","NA","c.1475T>A","p.I492N","NA",0.456522,92,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sodium channel and clathrin linker 1","2610207F23Rik, 4931421F20Rik, CAGGS-SB10, Tg(ACTB-sb10)1Dla, Tg(CAG-sb10)1Dla",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","SNAPC4","chr9",139282298,139282298,"NM_003086","C","A","missense","SNM","NA","NA","NA","c.1126G>T","p.V376F","NA",0.570896,268,0.025974,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","small nuclear RNA activating complex polypeptide 4","PTFalpha, SNAP190","This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPTLC1","chr9",94809472,94809472,"NM_006415","T","C","missense","SNM","NA","NA","NA","c.1063A>G","p.I355V","NA",0.569378,418,0.00847458,118,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serine palmitoyltransferase long chain base subunit 1","HSAN1, HSN1, LBC1, LCB1, SPT1, SPTI","This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","SQRDL","chr15",45968366,45968366,"NM_021199","A","C","missense","SNM","NA","NA","NA","c.722A>C","p.K241T","NA",0.305882,85,0.0238095,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sulfide quinone reductase-like (yeast)","Cc2-17",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","TDP2","chr6",24658829,24658829,"NM_016614","G","C","missense","SNM","NA","NA","NA","c.385C>G","p.L129V","NA",0.293578,217,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tyrosyl-DNA phosphodiesterase 2","AD022, EAP2, EAPII, TTRAP, dJ30M3.3, hTDP2","This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM184B","chr22",38643822,38643822,"NM_001195071","A","G","missense","SNM","NA","NA","NA","c.146T>C","p.I49T","NA",0.208333,192,0.0147059,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 184b","2610507A11, 4732495E13Rik",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578208,7578208,"NM_000546","T","C","missense","SNM","NA","NA","NA","c.641A>G","p.H214R","NA","<NA>","<NA>","<NA>","<NA>","NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRIP12","chr2",230679880,230679880,"NM_004238","T","C","missense","SNM","NA","NA","NA","c.1522A>G","p.M508V","NA",0.3875,80,0.0333333,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thyroid hormone receptor interactor 12","MRD49, TRIP-12, ULF","The protein encoded by this gene is an E3 ubiquitin-protein ligase involved in the degradation of the p19ARF/ARF isoform of CDKN2A, a tumor suppressor. The encoded protein also plays a role in the DNA damage response by regulating the stability of USP7, which regulates tumor suppressor p53. [provided by RefSeq, Jan 2017]","NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","TUBGCP2","chr10",135103463,135103463,"NM_006659","C","T","missense","SNM","NA","NA","NA","c.1225G>A","p.V409I","NA",0.259516,289,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tubulin gamma complex associated protein 2","ALP4, GCP-2, GCP2, Grip103, SPBC97, SPC97, Spc97p, h103p, hGCP2, hSpc97",null,"NA"]
["S00567","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNFX1","chr20",47874021,47874021,"NM_021035","G","A","missense","SNM","NA","NA","NA","c.2597C>T","p.A866V","NA",0.867742,310,0.0115607,172,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger NFX1-type containing 1",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ABCA1","chr9",107624046,107624046,"NM_005502","T","A","missense","SNM","NA","NA","NA","c.457A>T","p.T153S","NA",0.350365,137,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP binding cassette subfamily A member 1","ABC-1, ABC1, CERP, HDLDT1, TGD","The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTS12","chr5",33576679,33576679,"NM_030955","G","A","missense","SNM","NA","NA","NA","c.3452C>T","p.P1151L","NA",0.454988,409,0,126,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 12","PRO4389","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTS2","chr5",178580559,178580559,"NM_014244","C","A","missense","SNM","NA","NA","NA","c.1448G>T","p.G483V","NA",0.127273,110,0,96,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 2","ADAM-TS2, ADAMTS-2, ADAMTS-3, EDSDERMS, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","AEN","chr15",89169618,89169618,"NM_022767","G","T","missense","SNM","NA","NA","NA","c.178G>T","p.G60W","NA",0.24,50,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","apoptosis enhancing nuclease","ISG20L1, pp12744",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","AHCY","chr20",32883248,32883248,"NM_000687","C","A","missense","SNM","NA","NA","NA","c.172G>T","p.V58L","NA",0.213115,61,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adenosylhomocysteinase","SAHH, adoHcyase","S-adenosylhomocysteine hydrolase belongs to the adenosylhomocysteinase family. It catalyzes the reversible hydrolysis of S-adenosylhomocysteine (AdoHcy) to adenosine (Ado) and L-homocysteine (Hcy). Thus, it regulates the intracellular S-adenosylhomocysteine (SAH) concentration thought to be important for transmethylation reactions. Deficiency in this protein is one of the different causes of hypermethioninemia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARMC9","chr2",232072934,232072934,"NM_025139","C","A","missense","SNM","NA","NA","NA","c.146C>A","p.S49Y","NA",0.382979,47,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","armadillo repeat containing 9","ARM, JBTS30, KU-MEL-1, NS21",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP11A","chr13",113510250,113510250,"NM_032189","G","T","missense","SNM","NA","NA","NA","c.2269G>T","p.G757C","NA",0.0865385,104,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase phospholipid transporting 11A","ATPIH, ATPIS","The protein encoded by this gene is an integral membrane ATPase. The encoded protein is probably phosphorylated in its intermediate state and likely drives the transport of ions such as calcium across membranes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","B4GALNT4","chr11",373266,373266,"NM_178537","C","A","missense","SNM","NA","NA","NA","c.611C>A","p.A204D","NA",0.276316,152,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","beta-1,4-N-acetyl-galactosaminyltransferase 4",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","BPNT1","chr1",220233036,220233036,"NM_006085","G","A","missense","SNM","NA","NA","NA","c.770C>T","p.A257V","NA",0.360465,85,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bisphosphate 3'-nucleotidase 1","BPntase",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","C11orf30","chr11",76261003,76261003,"NM_020193","C","T","missense","SNM","NA","NA","NA","c.3782C>T","p.P1261L","NA",0.408451,142,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","EMSY, BRCA2 interacting transcriptional repressor","C11orf30, GL002",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","C11orf74","chr11",36669622,36669622,"NM_138787","T","G","missense","SNM","NA","NA","NA","c.415T>G","p.C139G","NA",0.205,200,0,159,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome 11 open reading frame 74","HEPIS, NWC","This gene encodes a protein that was identified as a cellular interacting partner of non-structural protein 10 of the severe acute respiratory syndrome coronavirus (SARS-CoV). The encoded protein may function as a negative regulator of transcription. There is a pseudogene for this gene on chromosome 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","C9orf156","chr9",100667125,100667125,"NM_016481","C","A","missense","SNM","NA","NA","NA","c.1216G>T","p.V406F","NA",0.101449,138,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tRNA methyltransferase O","C9orf156, HSPC219, NAP1",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHI3L2","chr1",111773475,111773475,"NM_004000","A","G","missense","SNM","NA","NA","NA","c.182A>G","p.Y61C","NA",0.288288,111,0,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chitinase 3 like 2","CHIL2, YKL-39, YKL39","The protein encoded by this gene is similar to bacterial chitinases but lacks chitinase activity. The encoded protein is secreted and is involved in cartilage biogenesis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDX50","chr10",70670847,70670847,"NM_024045","C","T","missense","SNM","NA","NA","NA","c.484C>T","p.P162S","NA",0.2,60,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DExD-box helicase 50","GU2, GUB, RH-II/GuB, mcdrh","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box enzyme that may be involved in ribosomal RNA synthesis or processing. This gene and DDX21, also called RH-II/GuA, have similar genomic structures and are in tandem orientation on chromosome 10, suggesting that the two genes arose by gene duplication in evolution. This gene has pseudogenes on chromosomes 2, 3 and 4. Alternative splicing of this gene generates multiple transcript variants, but the full length nature of all the other variants but one has not been defined. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","DNAH5","chr5",13714584,13714584,"NM_001369","C","A","missense","SNM","NA","NA","NA","c.13055G>T","p.R4352L","NA",0.315789,171,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dynein axonemal heavy chain 5","CILD3, DNAHC5, HL1, KTGNR, PCD","This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","DNAJC12","chr10",69565382,69565382,"NM_021800","G","A","missense","SNM","NA","NA","NA","c.461C>T","p.P154L","NA",0.174419,171,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DnaJ heat shock protein family (Hsp40) member C12","HPANBH4, JDP1","This gene encodes a member of a subclass of the HSP40/DnaJ protein family. Members of this family of proteins are associated with complex assembly, protein folding, and export. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","DUSP16","chr12",12629995,12629995,"NM_030640","G","C","missense","SNM","NA","NA","NA","c.1770C>G","p.C590W","NA",0.134615,154,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dual specificity phosphatase 16","MKP-7, MKP7","This gene encodes a mitogen-activated protein kinase phosphatase that is a member of the dual specificity protein phosphatase subfamily. These phosphatases inactivate their target kinases by dephosphorylating both the phosphoserine/threonine and phosphotyrosine residues. The encoded protein specifically regulates the c-Jun amino-terminal kinase (JNK) and extracellular signal-regulated kinase (ERK) pathways.[provided by RefSeq, May 2010]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ERAL1","chr17",27186288,27186288,"NM_005702","A","G","missense","SNM","NA","NA","NA","c.1178A>G","p.K393R","NA",0.301136,176,0,124,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Era like 12S mitochondrial rRNA chaperone 1","CEGA, ERA, ERA-W, ERAL1A, ERAL1B, H-ERA, HERA-A, HERA-B, PRLTS6","The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","EXOC1","chr4",56762977,56762977,"NM_018261","G","T","missense","SNM","NA","NA","NA","c.2048G>T","p.G683V","NA",0.246154,65,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exocyst complex component 1","BM-102, SEC3, SEC3L1, SEC3P","The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of the exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM160A2","chr11",6232779,6232779,"NM_032127","C","A","missense","SNM","NA","NA","NA","c.2918G>T","p.G973V","NA",0.233766,77,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 160 member A2","C11orf56, FHIP","The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM48A","chr13",37603961,37603961,"NM_001014286","C","A","missense","SNM","NA","NA","NA","c.934G>T","p.A312S","NA",0.333333,81,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 48, member A",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM48A","chr13",37614728,37614728,"NM_001014286","T","A","missense","SNM","NA","NA","NA","c.498A>T","p.L166F","NA",0.333333,111,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 48, member A",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","FIP1L1","chr4",54244033,54244033,"NM_030917","G","T","missense","SNM","NA","NA","NA","c.28G>T","p.V10L","NA",0.280172,232,0.00526316,190,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","factor interacting with PAPOLA and CPSF1","FIP1, Rhe, hFip1","This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","FSTL1","chr3",120130757,120130757,"NM_007085","C","A","missense","SNM","NA","NA","NA","c.242G>T","p.R81L","NA",0.457364,258,0,278,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","follistatin like 1","FRP, FSL1, MIR198, OCC-1, OCC1, tsc36","This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","GAPVD1","chr9",128124961,128124961,"NM_015635","C","G","missense","SNM","NA","NA","NA","c.4400C>G","p.S1467C","NA",0.313725,102,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GTPase activating protein and VPS9 domains 1","GAPEX5, GAPex-5, RAP6",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","GLG1","chr16",74537603,74537603,"NM_012201","C","T","missense","SNM","NA","NA","NA","c.600G>A","p.M200I","NA",0.378947,95,0,120,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","golgi glycoprotein 1","CFR-1, ESL-1, MG-160, MG160",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","GTF3C1","chr16",27480722,27480722,"NM_001520","C","G","missense","SNM","NA","NA","NA","c.4964G>C","p.G1655A","NA",0.35023,433,0,277,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","general transcription factor IIIC subunit 1","TFIIIC, TFIIIC220, TFIIICalpha",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","HENMT1","chr1",109198219,109198219,"NM_001102592","T","A","missense","SNM","NA","NA","NA","c.252A>T","p.L84F","NA",0.149254,67,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HEN methyltransferase 1","C1orf59, HEN1",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","HERC2","chr15",28491036,28491036,"NM_004667","C","A","missense","SNM","NA","NA","NA","c.3568G>T","p.G1190C","NA",0.211009,109,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HECT and RLD domain containing E3 ubiquitin protein ligase 2","D15F37S1, MRT38, SHEP1, jdf2, p528","This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ICA1","chr7",8167751,8167751,"NM_022307","C","A","missense","SNM","NA","NA","NA","c.1082G>T","p.G361V","NA",0.209302,86,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","islet cell autoantigen 1","ICA69, ICAp69","This gene encodes a protein with an arfaptin homology domain that is found both in the cytosol and as membrane-bound form on the Golgi complex and immature secretory granules. This protein is believed to be an autoantigen in insulin-dependent diabetes mellitus and primary Sjogren's syndrome. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","IQSEC1","chr3",12953202,12953202,"NM_001134382","C","G","missense","SNM","NA","NA","NA","c.2343G>C","p.K781N","NA",0.216981,212,0,157,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","IQ motif and Sec7 domain 1","ARF-GEP100, ARFGEP100, BRAG2, GEP100",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","KDELR1","chr19",48893766,48893766,"NM_006801","C","G","missense","SNM","NA","NA","NA","c.107G>C","p.S36T","NA",0.248619,181,0,146,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","KDEL endoplasmic reticulum protein retention receptor 1","ERD2, ERD2.1, HDEL, PM23","Retention of resident soluble proteins in the lumen of the endoplasmic reticulum (ER) is achieved in both yeast and animal cells by their continual retrieval from the cis-Golgi, or a pre-Golgi compartment. Sorting of these proteins is dependent on a C-terminal tetrapeptide signal, usually lys-asp-glu-leu (KDEL) in animal cells, and his-asp-glu-leu (HDEL) in S. cerevisiae. This process is mediated by a receptor that recognizes, and binds the tetrapeptide-containing protein, and returns it to the ER. In yeast, the sorting receptor encoded by a single gene, ERD2, which is a seven-transmembrane protein. Unlike yeast, several human homologs of the ERD2 gene, constituting the KDEL receptor gene family, have been described. The protein encoded by this gene was the first member of the family to be identified, and it encodes a protein structurally and functionally similar to the yeast ERD2 gene product. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","KPNB1","chr17",45734274,45734274,"NM_002265","C","A","missense","SNM","NA","NA","NA","c.331C>A","p.Q111K","NA",0.269608,204,0,141,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","karyopherin subunit beta 1","IMB1, IPO1, IPOB, Impnb, NTF97","Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRP1","chr12",57605731,57605731,"NM_002332","C","T","missense","SNM","NA","NA","NA","c.13280C>T","p.P4427L","NA",0.143345,292,0,208,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","LDL receptor related protein 1","A2MR, APOER, APR, CD91, IGFBP-3R, IGFBP3R, IGFBP3R1, KPA, LRP, LRP1A, TGFBR5","This gene encodes a member of the low-density lipoprotein receptor family of proteins. The encoded preproprotein is proteolytically processed by furin to generate 515 kDa and 85 kDa subunits that form the mature receptor (PMID: 8546712). This receptor is involved in several cellular processes, including intracellular signaling, lipid homeostasis, and clearance of apoptotic cells. In addition, the encoded protein is necessary for the alpha 2-macroglobulin-mediated clearance of secreted amyloid precursor protein and beta-amyloid, the main component of amyloid plaques found in Alzheimer patients. Expression of this gene decreases with age and has been found to be lower than controls in brain tissue from Alzheimer's disease patients. [provided by RefSeq, Oct 2015]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","LTBP1","chr2",33413774,33413774,"NM_206943","-","A","frameshift insertion","INS","NA","NA","NA","c.1556_1557insA","p.S519fs","NA",0.309091,110,0,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","latent transforming growth factor beta binding protein 1",null,"The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAN2C1","chr15",75649159,75649159,"NM_006715","G","A","stopgain","SNM","NA","NA","NA","c.2632C>T","p.R878*","NA",0.164062,128,0,99,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mannosidase alpha class 2C member 1","MAN6A8, MANA, MANA1",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","MARK2","chr11",63666233,63666233,"NM_001039469","A","T","splicing","SNM","NA","NA","NA","c.404_splice","e6-2","NA",0.262626,198,0,130,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","microtubule affinity regulating kinase 2","EMK-1, EMK1, PAR-1, Par-1b, Par1b","This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","MPP7","chr10",28438972,28438972,"NM_173496","T","A","missense","SNM","NA","NA","NA","c.173A>T","p.H58L","NA",0.228261,92,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","membrane palmitoylated protein 7",null,"The protein encoded by this gene is a member of the p55 Stardust family of membrane-associated guanylate kinase (MAGUK) proteins, which function in the establishment of epithelial cell polarity. This family member forms a complex with the polarity protein DLG1 (discs, large homolog 1) and facilitates epithelial cell polarity and tight junction formation. Polymorphisms in this gene are associated with variations in site-specific bone mineral density (BMD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","MTHFD1L","chr6",151259849,151259849,"NM_001242767","G","T","missense","SNM","NA","NA","NA","c.1411G>T","p.G471C","NA",0.370504,278,0.00431034,232,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like","FTHFSDC1, MTC1THFS, dJ292B18.2","The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","NFIB","chr9",14306987,14306987,"NM_001190737","C","A","splicing","SNM","NA","NA","NA","c.562_splice","e3+1","NA",0.215116,172,0,134,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear factor I B","CTF, HMGIC/NFIB, NF-I/B, NF1-B, NFI-B, NFI-RED, NFIB2, NFIB3",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","NIPAL2","chr8",99217445,99217445,"NM_024759","C","A","missense","SNM","NA","NA","NA","c.685G>T","p.V229F","NA",0.223077,130,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NIPA like domain containing 2","NPAL2",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","NOA1","chr4",57843348,57843348,"NM_032313","G","A","missense","SNM","NA","NA","NA","c.404C>T","p.P135L","NA",0.2,90,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","P-loop containing nucleoside triphosphate hydrolases superfamily protein","AT3G47450, ATNOA1, ATNOS1, NITRIC OXIDE SYNTHASE 1, NO ASSOCIATED 1, NOS1, RESISTANT TO INHIBITION WITH FOSMIDOMYCIN  1, RESISTANT TO INHIBITION WITH FOSMIDOMYCIN 1, RIF1","Encodes a protein with similarity to the bacterial YqeH GTPase required for proper ribosome assembly. In Arabidopsis, mutant analyses show that this protein regulates growth and hormonal signaling in plants. It also attenuates oxidative stress and reactive oxygen species (ROS). It also seems to be involved in regulating leaf senescence and cell death. This gene product is also involved in nitric oxide biosynthesis in response to ABA but not exogenous H2O2. This protein also appears to be required for proper plastid biogenesis. Levels of several plastid-localized proteins, including RBCL, ClpP1, and the MEP biosynthesis enzymes DXS and DXR are altered in rif1-1 mutants. This protein was originally characterized as a mitrochondrial-localized nitric oxide synthase, but, the synthase activity was later disproven. In addition, new studies with GFP fusion proteins and chloroplast import assays suggest that this protein is found in chloroplasts.","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","NR2F6","chr19",17343310,17343310,"NM_005234","G","A","missense","SNM","NA","NA","NA","c.1066C>T","p.R356W","NA",0.12782,132,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear receptor subfamily 2, group F, member 6","AV090102, COUP-TF3, EAR2, Erbal2",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","PIR","chrX",15497929,15497929,"NM_003662","G","A","missense","SNM","NA","NA","NA","c.112C>T","p.P38S","NA",0.463415,40,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pirin",null,"This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLD5","chr1",242253208,242253208,"NM_152666","G","A","missense","SNM","NA","NA","NA","c.1559C>T","p.S520F","NA",0.325758,394,0,203,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phospholipase D family member 5","PLDC",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLEKHA4","chr19",49362849,49362849,"NM_020904","C","A","missense","SNM","NA","NA","NA","c.569G>T","p.R190L","NA",0.22,50,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pleckstrin homology domain containing A4","PEPP1","This gene encodes a pleckstrin homology (PH) domain-containing protein. The PH domain is found near the N-terminus and contains a putative phosphatidylinositol 3, 4, 5-triphosphate-binding motif (PPBM). Elevated expression of this gene has been observed in some melanomas. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2017]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLK1","chr16",23698820,23698820,"NM_005030","G","T","missense","SNM","NA","NA","NA","c.1067G>T","p.R356L","NA",0.362637,182,0,117,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polo like kinase 1","PLK, STPK13","The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLXNA2","chr1",208390101,208390101,"NM_025179","C","A","missense","SNM","NA","NA","NA","c.1167G>T","p.K389N","NA",0.361111,216,0,138,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","plexin A2","2810428A13Rik, AA589422, AW457381, OCT, PlexA2, Plxn2, mKIAA0463",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","POLR2B","chr4",57873058,57873058,"NM_000938","G","C","missense","SNM","NA","NA","NA","c.1294G>C","p.E432Q","NA",0.130435,69,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA polymerase II subunit B","POL2RB, RPB2, hRPB140","This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","PPP1R21","chr2",48692094,48692094,"NM_001135629","C","A","missense","SNM","NA","NA","NA","c.713C>A","p.A238D","NA",0.322581,93,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein phosphatase 1 regulatory subunit 21","CCDC128, KLRAQ1",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRIC285","chr20",62191988,62191988,"NM_001037335","C","A","missense","SNM","NA","NA","NA","c.7344G>T","p.Q2448H","NA",0.33758,157,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","peroxisomal proliferator-activated receptor A interacting complex 285",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","RNF181","chr2",85824011,85824011,"NM_016494","A","T","missense","SNM","NA","NA","NA","c.284A>T","p.H95L","NA",0.227666,347,0,253,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 181","HSPC238","RNF181 binds the integrin alpha-IIb (ITGA2B; MIM 607759)/beta-3 (ITGB3; MIM 173470) complex and has E3 ubiquitin ligase activity (Brophy et al., 2008 [PubMed 18331836]).[supplied by OMIM, Dec 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","RPH3AL","chr17",97066,97066,"NM_001190411","C","A","missense","SNM","NA","NA","NA","c.449G>T","p.R150M","NA",0.380952,63,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","rabphilin 3A like (without C2 domains)","NOC2","The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","RRN3","chr16",15165065,15165065,"NM_018427","T","C","missense","SNM","NA","NA","NA","c.1172A>G","p.Q391R","NA",0.321429,56,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RRN3 homolog, RNA polymerase I transcription factor","A-270G1.2, TIFIA",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","SHKBP1","chr19",41096151,41096151,"NM_138392","G","T","missense","SNM","NA","NA","NA","c.1591G>T","p.V531L","NA",0.215686,51,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SH3KBP1 binding protein 1","PP203, Sb1",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLAIN1","chr13",78335084,78335084,"NM_001242868","G","T","missense","SNM","NA","NA","NA","c.1536G>T","p.M512I","NA",0.181818,154,0.008,125,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SLAIN motif family, member 1","9630044O09Rik, AA675320, AW742596",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC39A4","chr8",145638327,145638327,"NM_130849","T","C","missense","SNM","NA","NA","NA","c.1631A>G","p.D544G","NA",0.210526,38,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 39 member 4","AEZ, AWMS2, ZIP4","This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPEF2","chr5",35740298,35740298,"NM_024867","G","T","missense","SNM","NA","NA","NA","c.3259G>T","p.D1087Y","NA",0.493464,306,0,147,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sperm flagellar 2","C230086A09Rik",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK36","chr2",219561786,219561786,"NM_015690","G","T","missense","SNM","NA","NA","NA","c.2611G>T","p.D871Y","NA",0.284091,88,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serine/threonine kinase 36","FU","This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","STXBP2","chr19",7706603,7706603,"NM_006949","G","A","missense","SNM","NA","NA","NA","c.442G>A","p.D148N","NA",0.315217,92,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","syntaxin binding protein 2","FHL5, Hunc18b, MUNC18-2, UNC18-2, UNC18B, pp10122","This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2013]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM134","chr11",67235548,67235548,"NM_025124","C","T","missense","SNM","NA","NA","NA","c.190G>A","p.E64K","NA",0.213115,122,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 134",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM43","chr3",14183186,14183186,"NM_024334","C","T","missense","SNM","NA","NA","NA","c.1094C>T","p.A365V","NA",0.323276,232,0.00518135,193,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 43","ARVC5, ARVD5, EDMD7, LUMA","This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM48","chr1",54275410,54275410,"NM_018087","G","A","missense","SNM","NA","NA","NA","c.713C>T","p.P238L","NA",0.195122,41,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NDC1 transmembrane nucleoporin","NET3, TMEM48",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","TNS1","chr2",218712871,218712871,"NM_022648","C","A","missense","SNM","NA","NA","NA","c.1994G>T","p.R665L","NA",0.186047,86,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tensin 1","MST091, MST122, MST127, MSTP091, MSTP122, MSTP127, MXRA6, PPP1R155, TNS","The protein encoded by this gene localizes to focal adhesions, regions of the plasma membrane where the cell attaches to the extracellular matrix. This protein crosslinks actin filaments and contains a Src homology 2 (SH2) domain, which is often found in molecules involved in signal transduction. This protein is a substrate of calpain II. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2015]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","UBLCP1","chr5",158696002,158696002,"NM_145049","G","T","missense","SNM","NA","NA","NA","c.79G>T","p.D27Y","NA",0.181818,66,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin like domain containing CTD phosphatase 1","CPUB1",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP5","chr12",6965948,6965948,"NM_001098536","G","A","missense","SNM","NA","NA","NA","c.662G>A","p.R221Q","NA",0.123457,161,0,127,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 5","ISOT","Ubiquitin (see MIM 191339)-dependent proteolysis is a complex pathway of protein metabolism implicated in such diverse cellular functions as maintenance of chromatin structure, receptor function, and degradation of abnormal proteins. A late step of the process involves disassembly of the polyubiquitin chains on degraded proteins into ubiquitin monomers. USP5 disassembles branched polyubiquitin chains by a sequential exo mechanism, starting at the proximal end of the chain (Wilkinson et al., 1995 [PubMed 7578059]).[supplied by OMIM, Mar 2010]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","VPS13C","chr15",62212320,62212320,"NM_020821","C","A","missense","SNM","NA","NA","NA","c.7423G>T","p.G2475W","NA",0.140351,57,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","vacuolar protein sorting 13 homolog C","PARK23","This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","WAPAL","chr10",88277750,88277750,"NM_015045","T","A","missense","SNM","NA","NA","NA","c.77A>T","p.N26I","NA",0.232143,112,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","wings apart-like homolog (Drosophila)",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","WDR52","chr3",113098394,113098394,"NM_001164496","A","T","stopgain","SNM","NA","NA","NA","c.2057T>A","p.L686*","NA",0.344828,29,0,15,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WD repeat domain 52",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","YTHDC2","chr5",112901695,112901695,"NM_022828","C","T","missense","SNM","NA","NA","NA","c.2821C>T","p.L941F","NA",0.288136,59,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","YTH domain containing 2","CAHL, hYTHDC2","This gene encodes a member of the DEAH (Asp-Glu-Ala-His) subfamily of proteins, part of the DEAD (Asp-Glu-Ala-Asp) box family of RNA helicases. The encoded protein binds to N6-methyladenosine, a common modified RNA nucleotide that is enriched in the stop codons and 3' UTRs of eukaryotic messenger RNAs. Binding of proteins to this modified nucleotide may regulate mRNA translation and stability. This gene may be associated with susceptibility to pancreatic cancer in human patients, and knockdown of this gene resulted in reduced proliferation in a human liver cancer cell line. [provided by RefSeq, Sep 2016]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZCWPW1","chr7",100001828,100001828,"NM_017984","C","A","stopgain","SNM","NA","NA","NA","c.1291G>T","p.G431*","NA",0.280374,107,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger CW-type and PWWP domain containing 1","ZCW1",null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZFHX3","chr16",72831036,72831036,"NM_006885","T","A","missense","SNM","NA","NA","NA","c.5545A>T","p.I1849F","NA",0.165049,103,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger homeobox 3","ATBF1, ATBT, ZNF927","This gene encodes a transcription factor with multiple homeodomains and zinc finger motifs, and regulates myogenic and neuronal differentiation. The encoded protein suppresses expression of the alpha-fetoprotein gene by binding to an AT-rich enhancer motif. The protein has also been shown to negatively regulate c-Myb, and transactivate the cell cycle inhibitor cyclin-dependent kinase inhibitor 1A (also known as p21CIP1). This gene is reported to function as a tumor suppressor in several cancers, and sequence variants of this gene are also associated with atrial fibrillation. Multiple transcript variants expressed from alternate promoters and encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]","NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF418","chr19",58438110,58438110,"NM_133460","C","A","missense","SNM","NA","NA","NA","c.1439G>T","p.R480M","NA",0.291925,161,0,140,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 418",null,null,"NA"]
["S00570","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF622","chr5",16463595,16463595,"NM_033414","G","C","stopgain","SNM","NA","NA","NA","c.882C>G","p.Y294*","NA",0.27044,159,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 622","ZPR9",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTS12","chr5",33662036,33662036,"NM_030955","G","A","missense","SNM","NA","NA","NA","c.1025C>T","p.A342V","NA",0.35109,412,0.00613497,163,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 12","PRO4389","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADD1","chr4",2906666,2906666,"NM_014189","G","A","missense","SNM","NA","NA","NA","c.1337G>A","p.R446K","NA",0.218605,215,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adducin 1","ADDA","Adducins are a family of cytoskeletal proteins encoded by three genes (alpha, beta, and gamma). Adducin acts as a heterodimer of the related alpha, beta, or gamma subunits. The protein encoded by this gene represents the alpha subunit. Alpha- and beta-adducin include a protease-resistant N-terminal region and a protease-sensitive, hydrophilic C-terminal region. Adducin binds with high affinity to Ca(2+)/calmodulin and is a substrate for protein kinases A and C. [provided by RefSeq, Aug 2017]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","AGPAT6","chr8",41467270,41467270,"NM_178819","A","T","missense","SNM","NA","NA","NA","c.332A>T","p.E111V","NA",0.173228,127,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta)","LPAAT-zeta",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","AIP","chr11",67250708,67250708,"NM_003977","G","A","missense","SNM","NA","NA","NA","c.79G>A","p.D27N","NA",0.226891,355,0,151,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aryl hydrocarbon receptor interacting protein","ARA9, FKBP16, FKBP37, PITA1, SMTPHN, XAP-2, XAP2","The protein encoded by this gene is a receptor for aryl hydrocarbons and a ligand-activated transcription factor. The encoded protein is found in the cytoplasm as part of a multiprotein complex, but upon binding of ligand is transported to the nucleus. This protein can regulate the expression of many xenobiotic metabolizing enzymes. Also, the encoded protein can bind specifically to and inhibit the activity of hepatitis B virus. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2014]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","ALMS1","chr2",73717959,73717959,"NM_015120","C","T","missense","SNM","NA","NA","NA","c.8870C>T","p.S2957L","NA",0.258503,147,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ALMS1, centrosome and basal body associated protein","ALSS","This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","ANKHD1-EIF4EBP3","chr5",139818160,139818160,"NM_020690","G","C","missense","SNM","NA","NA","NA","c.575G>C","p.R192P","NA",0.21134,194,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ANKHD1-EIF4EBP3 readthrough","MASK-BP3, MASK-BP3ARF","The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","BBS10","chr12",76740137,76740137,"NM_024685","T","C","missense","SNM","NA","NA","NA","c.1628A>G","p.N543S","NA",0.290076,131,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Bardet-Biedl syndrome 10","C12orf58","This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","BTBD9","chr6",38548069,38548069,"NM_001099272","G","A","missense","SNM","NA","NA","NA","c.959C>T","p.S320F","NA",0.236515,240,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","BTB domain containing 9","dJ322I12.1","This locus encodes a BTB/POZ domain-containing protein. This domain is known to be involved in protein-protein interactions. Polymorphisms at this locus have been reported to be associated with susceptibility to Restless Legs Syndrome and may also be associated with Tourette Syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Aug 2011]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","C10orf12","chr10",98743866,98743866,"NM_015652","C","T","missense","SNM","NA","NA","NA","c.2719C>T","p.L907F","NA",0.2,50,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome 10 open reading frame 12",null,null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","CDH12","chr5",21752299,21752299,"NM_004061","G","T","missense","SNM","NA","NA","NA","c.1932C>A","p.D644E","NA",0.330435,115,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cadherin 12","CDHB","This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","CECR5","chr22",17619572,17619572,"NM_033070","C","T","missense","SNM","NA","NA","NA","c.803G>A","p.G268D","NA",0.236111,216,0,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cat eye syndrome chromosome region, candidate 5 homolog (human)",null,null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","CEP97","chr3",101484166,101484166,"NM_024548","A","G","missense","SNM","NA","NA","NA","c.2369A>G","p.N790S","NA",0.186667,75,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centrosomal protein 97","2810403B08Rik, LRRIQ2",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHD1","chr5",98224893,98224893,"NM_001270","T","A","missense","SNM","NA","NA","NA","c.2230A>T","p.S744C","NA",0.243902,123,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromodomain helicase DNA binding protein 1","CHD-1, PILBOS","The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains.  CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","CLPTM1","chr19",45496084,45496084,"NM_001294","C","T","stopgain","SNM","NA","NA","NA","c.1939C>T","p.Q647*","NA",0.620779,385,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CLPTM1, transmembrane protein",null,null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","CTSA","chr20",44523705,44523705,"NM_000308","C","T","missense","SNM","NA","NA","NA","c.1075C>T","p.L359F","NA",0.192661,327,0,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cathepsin A","GLB2, GSL, NGBE, PPCA, PPGB","This gene encodes a member of the peptidase S10 family of serine carboxypeptidases. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme. This enzyme possesses deamidase, esterase and carboxypeptidase activities and acts as a scaffold in the lysosomal multienzyme complex. Mutations in this gene are associated with galactosialidosis. [provided by RefSeq, Nov 2015]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","DCLK1","chr13",36401784,36401784,"NM_004734","C","A","missense","SNM","NA","NA","NA","c.1395G>T","p.M465I","NA",0.302817,142,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","doublecortin like kinase 1","CL1, CLICK1, DCAMKL1, DCDC3A, DCLK","This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","DIAPH2","chrX",96213034,96213034,"NM_006729","C","A","missense","SNM","NA","NA","NA","c.1822C>A","p.P608T","NA",0.211765,170,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","diaphanous related formin 2","DIA, DIA2, DRF2, POF, POF2, POF2A","The product of this gene belongs to the diaphanous subfamily of the formin homology family of proteins. This gene may play a role in the development and normal function of the ovaries. Defects in this gene have been linked to premature ovarian failure 2. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","DIEXF","chr1",210016851,210016851,"NM_014388","C","G","missense","SNM","NA","NA","NA","c.1837C>G","p.H613D","NA",0.169591,171,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","digestive organ expansion factor homolog (zebrafish)","AA408296, AW045375, Def",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","DYRK1A","chr21",38884320,38884320,"NM_001396","C","T","missense","SNM","NA","NA","NA","c.1778C>T","p.P593L","NA",0.232558,172,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dual specificity tyrosine phosphorylation regulated kinase 1A","DYRK, DYRK1, HP86, MNB, MNBH, MRD7","This gene encodes a member of the Dual-specificity tyrosine phosphorylation-regulated kinase (DYRK) family. This member contains a nuclear targeting signal sequence, a protein kinase domain, a leucine zipper motif, and a highly conservative 13-consecutive-histidine repeat. It catalyzes its autophosphorylation on serine/threonine and tyrosine residues. It may play a significant role in a signaling pathway regulating cell proliferation and may be involved in brain development. This gene is a homolog of Drosophila mnb (minibrain) gene and rat Dyrk gene. It is localized in the Down syndrome critical region of chromosome 21, and is considered to be a strong candidate gene for learning defects associated with Down syndrome. Alternative splicing of this gene generates several transcript variants differing from each other either in the 5' UTR or in the 3' coding region. These variants encode at least five different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","F11R","chr1",160970876,160970876,"NM_016946","G","A","missense","SNM","NA","NA","NA","c.175C>T","p.R59C","NA",0.268371,313,0,121,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","F11 receptor","CD321, JAM, JAM1, JAMA, JCAM, KAT, PAM-1","Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","FURIN","chr15",91424992,91424992,"NM_002569","A","G","missense","SNM","NA","NA","NA","c.2269A>G","p.I757V","NA",0.445783,166,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","furin, paired basic amino acid cleaving enzyme","FUR, PACE, PCSK3, SPC1","This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. It encodes a type 1 membrane bound protease that is expressed in many tissues, including neuroendocrine, liver, gut, and brain. The encoded protein undergoes an initial autocatalytic processing event in the ER and then sorts to the trans-Golgi network through endosomes where a second autocatalytic event takes place and the catalytic activity is acquired. The product of this gene is one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include proparathyroid hormone, transforming growth factor beta 1 precursor, proalbumin, pro-beta-secretase, membrane type-1 matrix metalloproteinase, beta subunit of pro-nerve growth factor and von Willebrand factor. It is also thought to be one of the proteases responsible for the activation of HIV envelope glycoproteins gp160 and gp140 and may play a role in tumor progression. This gene is located in close proximity to family member proprotein convertase subtilisin/kexin type 6 and upstream of the FES oncogene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","GNB2L1","chr5",180670711,180670711,"NM_006098","C","A","missense","SNM","NA","NA","NA","c.90G>T","p.M30I","NA",0.168937,367,0,164,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","receptor for activated C kinase 1","GNB2L1, Gnb2-rs1, H12.3, HLC-7, PIG21",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","GOLGA5","chr14",93282659,93282659,"NM_005113","A","G","missense","SNM","NA","NA","NA","c.1384A>G","p.T462A","NA",0.159574,94,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","golgin A5","GOLIM5, RFG5, ret-II","The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes one of the golgins, a family of proteins localized to the Golgi. This protein is a coiled-coil membrane protein that has been postulated to play a role in vesicle tethering and docking. Translocations involving this gene and the ret proto-oncogene have been found in tumor tissues; the chimeric sequences have been designated RET-II and PTC5. A pseudogene of this gene is located on the short arm of chromosome 5. [provided by RefSeq, Jul 2013]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","GTF3C1","chr16",27495551,27495551,"NM_001520","G","C","missense","SNM","NA","NA","NA","c.3982C>G","p.Q1328E","NA",0.191617,167,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","general transcription factor IIIC subunit 1","TFIIIC, TFIIIC220, TFIIICalpha",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","IBTK","chr6",82914637,82914637,"NM_015525","C","A","missense","SNM","NA","NA","NA","c.2548G>T","p.V850L","NA",0.204545,88,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","inhibitor of Bruton tyrosine kinase","BTBD26, BTKI","Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","ISY1-RAB43","chr3",128859220,128859220,"NM_001204890","C","G","missense","SNM","NA","NA","NA","c.409G>C","p.E137Q","NA",0.175627,279,0,118,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ISY1-RAB43 readthrough","ISY1","This locus represents naturally occurring read-through transcription between the neighboring ISY1 (ISY1 splicing factor homolog) and RAB43 (RAB43, member RAS oncogene family) gene on chromosome 3. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product, but its C-terminus is distinct due to a frameshift relative to the downstream gene. [provided by RefSeq, Mar 2011]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","ITK","chr5",156667151,156667151,"NM_005546","T","C","missense","SNM","NA","NA","NA","c.931T>C","p.Y311H","NA",0.230415,217,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","IL2 inducible T cell kinase","Emt, Tcsk, Tsk",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","JAG2","chr14",105615189,105615189,"NM_002226","T","A","missense","SNM","NA","NA","NA","c.1913A>T","p.D638V","NA",0.229167,96,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","jagged 2","D12Ggc2e, Serh, mJagged2-1, sm",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","KLHL15","chrX",24006672,24006672,"NM_030624","T","C","missense","SNM","NA","NA","NA","c.1181A>G","p.Y394C","NA",0.305556,180,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kelch like family member 15","HEL-S-305","This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex, tramtrack, bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs. The encoded protein may be involved in protein ubiquitination and cytoskeletal organization. [provided by RefSeq, Apr 2009]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","LPL","chr8",19813396,19813396,"NM_000237","C","G","missense","SNM","NA","NA","NA","c.820C>G","p.L274V","NA",0.226277,137,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lipoprotein lipase","HDLCQ11, LIPD","LPL encodes lipoprotein lipase, which is expressed in heart, muscle, and adipose tissue. LPL functions as a homodimer, and has the dual functions of triglyceride hydrolase and ligand/bridging factor for receptor-mediated lipoprotein uptake. Severe mutations that cause LPL deficiency result in type I hyperlipoproteinemia, while less extreme mutations in LPL are linked to many disorders of lipoprotein metabolism. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRP5","chr11",68181351,68181351,"NM_002335","C","T","stopgain","SNM","NA","NA","NA","c.2698C>T","p.Q900*","NA",0.209459,148,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","LDL receptor related protein 5","BMND1, EVR1, EVR4, HBM, LR3, LRP-5, LRP7, OPPG, OPS, OPTA1, PCLD4, VBCH2","This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","MADD","chr11",47317525,47317525,"NM_003682","G","T","missense","SNM","NA","NA","NA","c.3678G>T","p.E1226D","NA",0.184783,184,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MAP kinase activating death domain","DENN, IG20, RAB3GEP","Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","MBOAT1","chr6",20109861,20109861,"NM_001080480","C","A","missense","SNM","NA","NA","NA","c.1329G>T","p.M443I","NA",0.200957,209,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","membrane bound O-acyltransferase domain containing 1","LPEAT1, LPLAT, LPLAT 1, LPSAT, OACT1, dJ434O11.1","This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","MDM1","chr12",68696507,68696507,"NM_017440","G","A","missense","SNM","NA","NA","NA","c.1865C>T","p.P622L","NA",0.178808,151,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transformed mouse 3T3 cell double minute 1","Arrd2, Mdm-1",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","MFAP1","chr15",44102056,44102056,"NM_005926","C","T","missense","SNM","NA","NA","NA","c.944G>A","p.R315K","NA",0.21519,237,0,167,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","microfibril associated protein 1","AMP",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","NMUR2","chr5",151771995,151771995,"NM_020167","C","A","missense","SNM","NA","NA","NA","c.1005G>T","p.Q335H","NA",0.202128,94,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","neuromedin U receptor 2","FM-4, FM4, NMU-R2, NMU2R, TGR-1, TGR1","This gene encodes a protein from the G-protein coupled receptor 1 family. This protein is a receptor for neuromedin U, which is a neuropeptide that is widely distributed in the gut and central nervous system. This receptor plays an important role in the regulation of food intake and body weight. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","NOP16","chr5",175815443,175815443,"NM_016391","C","A","missense","SNM","NA","NA","NA","c.98G>T","p.R33L","NA",0.233083,133,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Nop16p","YER002W",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","NUP133","chr1",229593969,229593969,"NM_018230","C","G","missense","SNM","NA","NA","NA","c.2919G>C","p.L973F","NA",0.230435,230,0,132,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Nup133p","YKR082W, RAT3",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","OBFC1","chr10",105657347,105657347,"NM_024928","G","A","missense","SNM","NA","NA","NA","c.712C>T","p.L238F","NA",0.278788,165,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","STN1, CST complex subunit","AAF-44, AAF44, OBFC1, RPA-32, bA541N10.2","OBFC1 and C17ORF68 (MIM 613129) are subunits of an alpha accessory factor (AAF) that stimulates the activity of DNA polymerase-alpha-primase (see MIM 176636), the enzyme that initiates DNA replication (Casteel et al., 2009 [PubMed 19119139]). OBFC1 also appears to function in a telomere-associated complex with C17ORF68 and TEN1 (C17ORF106; MIM 613130) (Miyake et al., 2009 [PubMed 19854130]).[supplied by OMIM, Nov 2009]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","OSGIN2","chr8",90926882,90926882,"NM_001126111","G","T","missense","SNM","NA","NA","NA","c.436G>T","p.D146Y","NA",0.203704,270,0,146,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","oxidative stress induced growth inhibitor family member 2","C8orf1, hT41",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDCD6IP","chr3",33887068,33887068,"NM_001162429","G","C","missense","SNM","NA","NA","NA","c.1644G>C","p.M548I","NA",0.270833,96,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","programmed cell death 6 interacting protein","AIP1, ALIX, DRIP4, HP95","This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDCL3","chr2",101188222,101188222,"NM_024065","G","T","missense","SNM","NA","NA","NA","c.539G>T","p.G180V","NA",0.284404,109,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosducin like 3","HTPHLP, PHLP2A, PHLP3, VIAF, VIAF1","This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDDC1","chr11",771054,771054,"NM_182612","C","A","missense","SNM","NA","NA","NA","c.595G>T","p.G199C","NA",0.226837,313,0,128,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Parkinson disease 7 domain containing 1","zgc:123196",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PFKFB2","chr1",207243666,207243667,"NM_006212","GG","CT","stopgain","DNM","NA","NA","NA","c.1134_1135delinsCT","p.ME378_379I*","NA",0.196517,254,0.00471698,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2","PFK-2/FBPase-2","The protein encoded by this gene is involved in both the synthesis and degradation of fructose-2,6-bisphosphate, a regulatory molecule that controls glycolysis in eukaryotes. The encoded protein has a 6-phosphofructo-2-kinase activity that catalyzes the synthesis of fructose-2,6-bisphosphate, and a fructose-2,6-biphosphatase activity that catalyzes the degradation of fructose-2,6-bisphosphate. This protein regulates fructose-2,6-bisphosphate levels in the heart, while a related enzyme encoded by a different gene regulates fructose-2,6-bisphosphate levels in the liver and muscle. This enzyme functions as a homodimer. Two transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLCL2","chr3",17051694,17051694,"NM_001144382","C","A","missense","SNM","NA","NA","NA","c.845C>A","p.T282K","NA",0.222222,45,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phospholipase C like 2","PLCE2",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLSCR1","chr3",146239789,146239789,"NM_021105","C","A","missense","SNM","NA","NA","NA","c.407G>T","p.G136V","NA",0.333333,120,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phospholipid scramblase 1","MMTRA1B",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PPARGC1A","chr4",23826113,23826113,"NM_013261","G","C","missense","SNM","NA","NA","NA","c.776C>G","p.S259C","NA",0.221154,104,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PPARG coactivator 1 alpha","LEM6, PGC-1(alpha), PGC-1alpha, PGC-1v, PGC1, PGC1A, PPARGC1","The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRKD2","chr19",47207440,47207440,"NM_001079880","C","T","missense","SNM","NA","NA","NA","c.875G>A","p.G292D","NA",0.397394,307,0,144,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein kinase D2","HSPC187, PKD2, nPKC-D2","The protein encoded by this gene belongs to the protein kinase D (PKD) family of serine/threonine protein kinases. This kinase can be activated by phorbol esters as well as by gastrin via the cholecystokinin B receptor (CCKBR) in gastric cancer cells. It can bind to diacylglycerol (DAG) in the trans-Golgi network (TGN) and may regulate basolateral membrane protein exit from TGN. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRPF6","chr20",62641597,62641597,"NM_012469","G","T","missense","SNM","NA","NA","NA","c.1231G>T","p.V411F","NA",0.231183,186,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pre-mRNA processing factor 6","ANT-1, ANT1, C20orf14, Prp6, RP60, SNRNP102, TOM, U5-102K, hPrp6","The protein encoded by this gene appears to be involved in pre-mRNA splicing, possibly acting as a bridging factor between U5 and U4/U6 snRNPs in formation of the spliceosome. The encoded protein also can bind androgen receptor, providing a link between transcriptional activation and splicing. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","RB1","chr13",48942673,48942673,"NM_000321","C","T","stopgain","SNM","NA","NA","NA","c.1060C>T","p.Q354*","NA",0.210526,76,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","SELO","chr22",50655200,50655200,"NM_031454","G","T","missense","SNM","NA","NA","NA","c.1583G>T","p.R528M","NA",0.315385,130,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","selenoprotein O","MICPUN_113708",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC38A2","chr12",46757598,46757598,"NM_018976","C","T","missense","SNM","NA","NA","NA","c.965G>A","p.R322K","NA",0.182609,115,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 38 member 2","ATA2, PRO1068, SAT2, SNAT2",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC5A6","chr2",27424908,27424908,"NM_021095","G","A","missense","SNM","NA","NA","NA","c.1310C>T","p.P437L","NA",0.226994,162,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 5 member 6","SMVT",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLITRK6","chr13",86368512,86368512,"NM_032229","C","T","missense","SNM","NA","NA","NA","c.2132G>A","p.G711E","NA",0.246073,191,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SLIT and NTRK like family member 6","DFNMYP","This gene encodes a member of the SLITRK protein family. Members of this family are integral membrane proteins that are characterized by two N-terminal leucine-rich repeat (LRR) domains and a C-terminal region that shares homology with trk neurotrophin receptors. This protein functions as a regulator of neurite outgrowth required for normal hearing and vision. Mutations in this gene are a cause of myopia and deafness. [provided by RefSeq, Dec 2014]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","SRCAP","chr16",30749880,30749880,"NM_006662","G","A","missense","SNM","NA","NA","NA","c.8519G>A","p.S2840N","NA",0.16092,86,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Snf2 related CREBBP activator protein","DOMO1, EAF1, FLHS, SWR1","This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","STS","chrX",7243440,7243440,"NM_000351","G","T","missense","SNM","NA","NA","NA","c.1157G>T","p.R386M","NA",0.295154,227,0.0163934,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","steroid sulfatase","ARSC, ARSC1, ASC, ES, SSDD, XLI","This gene encodes a multi-pass membrane protein that is localized to the endoplasmic reticulum. It belongs to the sulfatase family and hydrolyzes several 3-beta-hydroxysteroid sulfates, which serve as metabolic precursors for estrogens, androgens, and cholesterol. Mutations in this gene are associated with X-linked ichthyosis (XLI). Alternatively spliced transcript variants resulting from the use of different promoters have been described for this gene (PMID:17601726). [provided by RefSeq, Mar 2016]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","SYTL3","chr6",159086585,159086585,"NM_001242384","A","C","missense","SNM","NA","NA","NA","c.269A>C","p.Q90P","NA",0.142857,140,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","synaptotagmin like 3","SLP3","The protein encoded by this gene belongs to a family of peripheral membrane proteins that play a role in vesicular trafficking. This protein binds phospholipids in the presence of calcium ions. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","TJP2","chr9",71864339,71864339,"NM_001170416","G","A","missense","SNM","NA","NA","NA","c.3022G>A","p.A1008T","NA",0.289474,76,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tight junction protein 2","C9DUPq21.11, DFNA51, DUP9q21.11, PFIC4, X104, ZO2","This gene encodes a zonula occluden that is a member of the membrane-associated guanylate kinase homolog family. The encoded protein functions as a component of the tight junction barrier in epithelial and endothelial cells and is necessary for proper assembly of tight junctions. Mutations in this gene have been identified in patients with hypercholanemia, and genomic duplication of a 270 kb region including this gene causes autosomal dominant deafness-51. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7576897,7576897,"NM_000546","G","A","stopgain","SNM","NA","NA","NA","c.949C>T","p.Q317*","NA",0.29,200,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRAPPC4","chr11",118890907,118890907,"NM_016146","G","T","missense","SNM","NA","NA","NA","c.398G>T","p.G133V","NA",0.192771,166,0.0135135,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","trafficking protein particle complex 4","CGI-104, HSPC172, PTD009, SBDN, SYNBINDIN, TRS23",null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","TSPYL1","chr6",116600311,116600311,"NM_003309","C","A","missense","SNM","NA","NA","NA","c.683G>T","p.R228L","NA",0.232704,159,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TSPY like 1","TSPYL","The protein encoded by this gene is found in the nucleolus and is similar to that of a family of genes on the Y-chromosome. This gene is intronless. Defects in this gene are a cause of sudden infant death with dysgenesis of the testes syndrome (SIDDT). [provided by RefSeq, Dec 2009]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","TTC17","chr11",43418929,43418929,"NM_018259","C","A","missense","SNM","NA","NA","NA","c.806C>A","p.A269E","NA",0.217143,175,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tetratricopeptide repeat domain 17",null,null,"NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP19","chr3",49152406,49152406,"NM_001199160","C","A","missense","SNM","NA","NA","NA","c.2161G>T","p.G721W","NA",0.282528,269,0,153,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 19","ZMYND9","Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP20","chr9",132642428,132642428,"NM_001110303","C","G","missense","SNM","NA","NA","NA","c.2621C>G","p.T874S","NA",0.198347,121,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 20","LSFR3A, VDU2, hVDU2","This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","WDFY3","chr4",85625521,85625521,"NM_014991","C","A","missense","SNM","NA","NA","NA","c.8412G>T","p.E2804D","NA",0.2,70,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WD repeat and FYVE domain containing 3","ALFY, BCHS, MCPH18, ZFYVE25","This gene encodes a phosphatidylinositol 3-phosphate-binding protein that functions as a master conductor for aggregate clearance by autophagy. This protein shuttles from the nuclear membrane to colocalize with aggregated proteins, where it complexes with other autophagic components to achieve macroautophagy-mediated clearance of these aggregated proteins. However, it is not necessary for starvation-induced macroautophagy. [provided by RefSeq, May 2010]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","WRAP53","chr17",7605674,7605674,"NM_001143992","G","A","missense","SNM","NA","NA","NA","c.968G>A","p.G323D","NA",0.1875,127,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WD repeat containing antisense to TP53","DKCB3, TCAB1, WDR79","This gene encodes an essential component of the telomerase holoenzyme complex, a ribonucleoprotein complex required for telomere synthesis. This protein is enriched in Cajal bodies, nuclear sites of RNP processing that are important for telomerase function. It interacts with dyskerin, TERT and TERC, other components of active telomerase, and with small Cajal body RNAs (scaRNAs), which are involved in modifying splicing RNAs. This mRNA also functions as a p53 antisense transcript, that regulates endogenous p53 mRNA levels and further induction of p53 protein by targeting the 5' untranslated region of p53 mRNA. Alternatively spliced transcript variants which differ only in the 5' UTR have been found for this gene. [provided by RefSeq, Mar 2011]","NA"]
["S00587","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF559","chr19",9452641,9452641,"NM_001202406","C","T","missense","SNM","NA","NA","NA","c.706C>T","p.H236Y","NA",0.231707,82,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 559","NBLA00121",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","AKAP6","chr14",33291977,33291977,"NM_004274","G","T","missense","SNM","NA","NA","NA","c.4958G>T","p.S1653I","NA",0.653465,101,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","A-kinase anchoring protein 6","ADAP100, ADAP6, AKAP100, PRKA6, mAKAP","The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARGLU1","chr13",107219981,107219981,"NM_018011","T","A","missense","SNM","NA","NA","NA","c.287A>T","p.D96V","NA",0.637681,69,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","arginine and glutamate rich 1",null,null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARHGEF12","chr11",120352208,120352208,"NM_015313","C","T","missense","SNM","NA","NA","NA","c.4477C>T","p.P1493S","NA",0.716981,106,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho guanine nucleotide exchange factor 12","LARG, PRO2792","Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARHGEF18","chr19",7524812,7524812,"NM_001130955","C","T","missense","SNM","NA","NA","NA","c.1820C>T","p.P607L","NA",0.37037,54,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho/Rac guanine nucleotide exchange factor 18","P114-RhoGEF, RP78","Rho GTPases are GTP binding proteins that regulate a wide spectrum of cellular functions. These cellular processes include cytoskeletal rearrangements, gene transcription, cell growth and motility. Activation of Rho GTPases is under the direct control of guanine nucleotide exchange factors (GEFs). The protein encoded by this gene is a guanine nucleotide exchange factor and belongs to the Rho GTPase GFE family. Family members share a common feature, a Dbl (DH) homology domain followed by a pleckstrin (PH) homology domain. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATAD3B","chr1",1420530,1420530,"NM_031921","G","T","missense","SNM","NA","NA","NA","c.885G>T","p.E295D","NA",0.521739,184,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase family, AAA domain containing 3B","AAA-TOB3, TOB3","The protein encoded by this gene is localized to the mitochondrial inner membrane, where it can bind to a highly-related protein, ATAD3A. ATAD3A appears to interact with matrix nucleoid complexes, and the encoded protein negatively regulates that interaction. This gene is expressed almost exclusively in pluripotent embryonic stem cells and some cancer cells. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATG2B","chr14",96790242,96790242,"NM_018036","T","C","missense","SNM","NA","NA","NA","c.2531A>G","p.D844G","NA",0.568182,88,0.0196078,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","autophagy related 2B","C14orf103","This gene encodes a protein required for autophagy. The encoded protein is involved in autophagosome formation. A germline duplication of a region that includes this gene is associated with predisposition to myeloid malignancies. [provided by RefSeq, Jul 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","BOD1","chr5",173036387,173036387,"NM_138369","T","A","missense","SNM","NA","NA","NA","c.413A>T","p.D138V","NA",0.485,200,0.00840336,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","biorientation of chromosomes in cell division 1","FAM44B",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","C3orf39","chr3",43122727,43122727,"NM_032806","T","C","missense","SNM","NA","NA","NA","c.197A>G","p.H66R","NA",0.417647,170,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)","AGO61, C3orf39, GTDC2, MDDGA8","This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","CAND1","chr12",67699861,67699861,"NM_018448","G","A","missense","SNM","NA","NA","NA","c.2413G>A","p.A805T","NA",0.534759,187,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cullin associated and neddylation dissociated 1","TIP120, TIP120A","This gene encodes an essential regulator of Cullin-RING ubiquitin ligases, which are in involved in ubiquitinylation of proteins degraded by the Ub proteasome system. The encoded protein binds to unneddylated cullin-RING box protein complexes and acts as an inhibitor of cullin neddylation and of Skp1, cullin, and F box ubiquitin ligase complex assembly and activity. In mammalian cell culture, this protein predominantly localizes to the cytoplasm. Knockdown of this gene in preadipocytes results in blocked adipogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","CBFA2T3","chr16",88951570,88951570,"NM_005187","G","T","missense","SNM","NA","NA","NA","c.1001C>A","p.P334Q","NA",0.243421,304,0.0075188,133,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CBFA2/RUNX1 translocation partner 3","ETO2, MTG16, MTGR2, RUNX1T3, ZMYND4","This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors and recruit a range of corepressors to facilitate transcriptional repression. The t(16;21)(q24;q22) translocation is one of the less common karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. This gene is also a putative breast tumor suppressor. Alternative splicing results in transcript variants. [provided by RefSeq, Nov 2010]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","CCDC50","chr3",191078897,191078897,"NM_178335","G","T","missense","SNM","NA","NA","NA","c.279G>T","p.E93D","NA",0.291045,133,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","coiled-coil domain containing 50","C3orf6, DFNA44, YMER","This gene encodes a soluble, cytoplasmic, tyrosine-phosphorylated protein with multiple ubiquitin-interacting domains. Mutations in this gene cause nonsyndromic, postlingual, progressive sensorineural DFNA44 hearing loss. In mouse, the protein is expressed in the inner ear during development and postnatal maturation and associates with microtubule-based structures. This protein may also function as a negative regulator of NF-kB signaling and as an effector of epidermal growth factor (EGF)-mediated cell signaling. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","CDH12","chr5",21765121,21765121,"NM_004061","T","A","missense","SNM","NA","NA","NA","c.1481A>T","p.E494V","NA",0.463158,95,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cadherin 12","CDHB","This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","CLK1","chr2",201721630,201721630,"NM_001162407","G","A","missense","SNM","NA","NA","NA","c.1037C>T","p.A346V","NA",0.296,125,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CDC like kinase 1","CLK, CLK/STY, STY","This gene encodes a member of the CDC2-like (or LAMMER) family of dual specificity protein kinases. In the nucleus, the encoded protein phosphorylates serine/arginine-rich proteins involved in pre-mRNA processing, releasing them into the nucleoplasm. The choice of splice sites during pre-mRNA processing may be regulated by the concentration of transacting factors, including serine/arginine rich proteins. Therefore, the encoded protein may play an indirect role in governing splice site selection. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","CNTRL","chr9",123910970,123910970,"NM_007018","G","T","missense","SNM","NA","NA","NA","c.3480G>T","p.Q1160H","NA",0.642857,126,0.0142857,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centriolin","CEP1, CEP110, FAN, bA165P4.1","This gene encodes a centrosomal protein required for the centrosome to function as a microtubule organizing center. The gene product is also associated with centrosome maturation. One version of stem cell myeloproliferative disorder is the result of a reciprocal translocation between chromosomes 8 and 9, with the breakpoint associated with fibroblast growth factor receptor 1 and centrosomal protein 1. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","COMMD2","chr3",149459496,149459496,"NM_016094","T","C","missense","SNM","NA","NA","NA","c.412A>G","p.R138G","NA",0.295082,244,0,127,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","COMM domain containing 2","HSPC042",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","DIDO1","chr20",61513095,61513095,"NM_001193369","C","A","missense","SNM","NA","NA","NA","c.4213G>T","p.G1405W","NA",0.383784,185,0.0172414,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","death inducer-obliterator 1","BYE1, C20orf158, DATF-1, DATF1, DIDO2, DIDO3, DIO-1, DIO1, dJ885L7.8","Apoptosis, a major form of cell death, is an efficient mechanism for eliminating unwanted cells and is of central importance for development and homeostasis in metazoan animals. In mice, the death inducer-obliterator-1 gene is upregulated by apoptotic signals and encodes a cytoplasmic protein that translocates to the nucleus upon apoptotic signal activation. When overexpressed, the mouse protein induced apoptosis in cell lines growing in vitro. This gene is similar to the mouse gene and therefore is thought to be involved in apoptosis. Alternatively spliced transcripts have been found for this gene, encoding multiple isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","DNLZ","chr9",139256466,139256466,"NM_001080849","A","T","stoploss","SNM","NA","NA","NA","c.535T>A","p.*179R","NA",0.384615,65,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DNL-type zinc finger","C9orf151, HEP, HEP1, TIMM15, ZIM17, bA413M3.2",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","DST","chr6",56499348,56499348,"NM_015548","T","C","missense","SNM","NA","NA","NA","c.1795A>G","p.I599V","NA",0.727273,132,0.0105263,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dystonin","2310001O04Rik, A830042E19Rik, AW554249, BP230, BPAG1-n, Bpag, Bpag1, Macf2, ah, athetoid, dt, mKIAA0728, nmf203, nmf339",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","EXOC4","chr7",133749280,133749280,"NM_021807","A","G","stoploss","SNM","NA","NA","NA","c.2924A>G","p.*975W","NA",0.414474,152,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exocyst complex component 4","SEC8, SEC8L1, Sec8p","The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","FGA","chr4",155507470,155507470,"NM_000508","C","A","missense","SNM","NA","NA","NA","c.1111G>T","p.G371W","NA",0.638554,83,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fibrinogen alpha chain","Fib2","This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","FGD1","chrX",54472639,54472639,"NM_004463","G","A","missense","SNM","NA","NA","NA","c.2789C>T","p.T930I","NA",0.638889,72,0.0222222,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FYVE, RhoGEF and PH domain containing 1","AAS, FGDY, MRXS16, ZFYVE3","This gene encodes a protein that contains Dbl (DH) and pleckstrin (PH) homology domains and is similar to the Rho family of small GTP-binding proteins. The encoded protein specifically binds to the Rho family GTPase Cdc42Hs and can stimulate the GDP-GTP exchange of the isoprenylated form of Cdc42Hs. It also stimulates the mitogen activated protein kinase cascade leading to c-Jun kinase SAPK/JNK1 activation. Defects in this gene are the cause of the faciogenital dysplasia in Aarskog-Scott syndrome and a syndromatic form of X-linked cognitive disability. [provided by RefSeq, Jul 2017]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","FKBP5","chr6",35586914,35586914,"NM_001145775","C","G","missense","SNM","NA","NA","NA","c.467G>C","p.G156A","NA",0.734375,128,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FK506 binding protein 5","AIG6, FKBP51, FKBP54, P54, PPIase, Ptg-10","The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It is thought to mediate calcineurin inhibition. It also interacts functionally with mature hetero-oligomeric progesterone receptor complexes along with the 90 kDa heat shock protein and P23 protein. This gene has been found to have multiple polyadenylation sites. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","FZD6","chr8",104342234,104342234,"NM_001164615","A","T","missense","SNM","NA","NA","NA","c.1893A>T","p.E631D","NA",0.775641,156,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","frizzled class receptor 6","Fz6",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","GAA","chr17",78084767,78084767,"NM_000152","A","T","missense","SNM","NA","NA","NA","c.1579A>T","p.R527W","NA",0.36255,251,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glucosidase alpha, acid","LYAG","This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","GREB1","chr2",11773099,11773099,"NM_014668","C","A","missense","SNM","NA","NA","NA","c.4901C>A","p.P1634Q","NA",0.332075,265,0.0129032,155,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","growth regulating estrogen receptor binding 1",null,"This gene is an estrogen-responsive gene that is an early response gene in the estrogen receptor-regulated pathway. It is thought to play an important role in hormone-responsive tissues and cancer. Three alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","HDAC1","chr1",32797810,32797810,"NM_004964","G","T","missense","SNM","NA","NA","NA","c.1339G>T","p.D447Y","NA",0.12,100,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone deacetylase 1","GON-10, HD1, RPD3, RPD3L1","Histone acetylation and deacetylation, catalyzed by multisubunit complexes, play a key role in the regulation of eukaryotic gene expression. The protein encoded by this gene belongs to the histone deacetylase/acuc/apha family and is a component of the histone deacetylase complex. It also interacts with retinoblastoma tumor-suppressor protein and this complex is a key element in the control of cell proliferation and differentiation. Together with metastasis-associated protein-2, it deacetylates p53 and modulates its effect on cell growth and apoptosis. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","IARS2","chr1",220316363,220316363,"NM_018060","G","T","stopgain","SNM","NA","NA","NA","c.2638G>T","p.E880*","NA",0.571875,320,0.0117647,170,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","isoleucyl-tRNA synthetase 2, mitochondrial","CAGSSS, ILERS","Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ICK","chr6",52880951,52880951,"NM_014920","C","G","missense","SNM","NA","NA","NA","c.761G>C","p.S254T","NA",0.674699,165,0.0186916,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","intestinal cell kinase","ECO, EJM10, LCK2, MRK","Eukaryotic protein kinases are enzymes that belong to a very extensive family of proteins which share a conserved catalytic core common with both serine/threonine and tyrosine protein kinases. This gene encodes an intestinal serine/threonine kinase harboring a dual phosphorylation site found in mitogen-activating protein (MAP) kinases. The protein localizes to the intestinal crypt region and is thought to be important in intestinal epithelial cell proliferation and differentiation. Alternative splicing has been observed at this locus and two variants, encoding the same isoform, have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","INPP4B","chr4",143094835,143094835,"NM_003866","G","T","missense","SNM","NA","NA","NA","c.1309C>A","p.Q437K","NA",0.418301,306,0.0150376,133,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","inositol polyphosphate-4-phosphatase type II B",null,"INPP4B encodes the inositol polyphosphate 4-phosphatase type II, one of the enzymes involved in phosphatidylinositol signaling pathways. This enzyme removes the phosphate group at position 4 of the inositol ring from inositol 3,4-bisphosphate. There is limited data to suggest that the human type II enzyme is subject to alternative splicing, as has been established for the type I enzyme. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","JPH3","chr16",87717860,87717860,"NM_020655","C","A","missense","SNM","NA","NA","NA","c.1273C>A","p.H425N","NA",0.421053,133,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","junctophilin 3","CAGL237, HDL2, JP-3, JP3, TNRC22","Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. CAG/CTG repeat expansion from normally 6-28 repeats to 40-59 repeats in the 3' UTR of this gene have been associated with Huntington disease-like 2 (HDL2). This gene is a member of the junctophilin gene family. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","KRBA2","chr17",8273246,8273246,"NM_213597","C","G","missense","SNM","NA","NA","NA","c.685G>C","p.V229L","NA",0.238095,126,0,98,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","KRAB-A domain containing 2",null,null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","LGALS3BP","chr17",76968002,76968002,"NM_005567","G","A","stopgain","SNM","NA","NA","NA","c.1414C>T","p.Q472*","NA",0.484848,231,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","galectin 3 binding protein","90K, BTBD17B, CyCAP, M2BP, MAC-2-BP, TANGO10B, gp90","The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","LINGO2","chr9",27950596,27950596,"NM_152570","G","T","missense","SNM","NA","NA","NA","c.74C>A","p.T25N","NA",0.706422,109,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat and Ig domain containing 2","LERN3, LRRN6C",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRFN5","chr14",42361135,42361135,"NM_152447","C","A","missense","SNM","NA","NA","NA","c.2068C>A","p.P690T","NA",0.741573,89,0.0384615,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat and fibronectin type III domain containing 5","C14orf146, FIGLER8, SALM5","This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation. [provided by RefSeq, Sep 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAP2","chr2",210594960,210594960,"NM_002374","G","T","missense","SNM","NA","NA","NA","c.5323G>T","p.G1775W","NA",0.653061,147,0.00970874,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","microtubule-associated protein 2","G1-397-34, MAP-2, Mtap-2, Mtap2, repro4",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAVS","chr20",3845290,3845290,"NM_020746","C","G","missense","SNM","NA","NA","NA","c.1013C>G","p.S338C","NA",0.505618,263,0,99,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitochondrial antiviral signaling protein","CARDIF, IPS-1, IPS1, VISA","This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","MBD1","chr18",47806310,47806310,"NM_001204136","C","A","missense","SNM","NA","NA","NA","c.53G>T","p.R18L","NA",0.217822,101,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","methyl-CpG binding domain protein 1","CXXC3, PCM1, RFT","The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains multiple domains: MBD at the N-terminus that functions both in binding to methylated DNA and in protein interactions; several CXXC-type zinc finger domains that mediate binding to non-methylated CpG dinucleotides; transcriptional repression domain (TRD) at the C-terminus that is involved in transcription repression and in protein interactions. Numerous alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Feb 2011]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","MFNG","chr22",37876260,37876260,"NM_002405","C","G","missense","SNM","NA","NA","NA","c.382G>C","p.D128H","NA",0.30597,134,0,76,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase","AW546563",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","MORC2","chr22",31333633,31333633,"NM_014941","G","A","missense","SNM","NA","NA","NA","c.1249C>T","p.P417S","NA",0.373626,182,0,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MORC family CW-type zinc finger 2","CMT2Z, ZCW3, ZCWCC1","This gene encodes a member of the Microrchidia (MORC) protein superfamily. The encoded protein is known to regulate the condensation of heterochromatin in response to DNA damage and play a role in repressing transcription. The protein has been found to regulate the activity of ATP citrate lyase via specific interaction with this enzyme in the cytosol of lipogenic breast cancer cells. The protein also plays a role in lipogenesis and adipocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","MTBP","chr8",121514847,121514847,"NM_022045","G","T","missense","SNM","NA","NA","NA","c.1725G>T","p.M575I","NA",0.636364,22,0,16,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MDM2 binding protein","MDM2BP","This gene encodes a protein that interacts with the oncoprotein mouse double minute 2. The encoded protein regulates progression through the cell cycle and may be involved in tumor formation. [provided by RefSeq, Aug 2012]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","MYO5A","chr15",52615613,52615613,"NM_000259","G","T","missense","SNM","NA","NA","NA","c.4664C>A","p.S1555Y","NA",0.415254,118,0,113,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myosin VA","9630007J19Rik, AI413174, AI661011, Dbv, MVa, Myo5, MyoVA, Sev-1, d, d-120J, flail, flr",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","NCSTN","chr1",160319460,160319460,"NM_015331","G","T","missense","SNM","NA","NA","NA","c.436G>T","p.G146C","NA",0.219917,241,0.00961538,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nicastrin","ATAG1874","This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","NIPSNAP3A","chr9",107513277,107513277,"NM_015469","G","A","missense","SNM","NA","NA","NA","c.101G>A","p.G34E","NA",0.318182,88,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nipsnap homolog 3A","HSPC299, NIPSNAP4, TASSC","NIPSNAP3A belongs to a family of proteins with putative roles in vesicular transport (Buechler et al., 2004 [PubMed 15177564]).[supplied by OMIM, Mar 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","NISCH","chr3",52512111,52512111,"NM_007184","A","T","splicing","SNM","NA","NA","NA","c.988_splice","e10-2","NA",0.753425,219,0.00840336,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nischarin","I-1, IR1, IRAS, hIRAS","This gene encodes a nonadrenergic imidazoline-1 receptor protein that localizes to the cytosol and anchors to the inner layer of the plasma membrane. The orthologous mouse protein has been shown to influence cytoskeletal organization and cell migration by binding to alpha-5-beta-1 integrin. In humans, this protein has been shown to bind to the adapter insulin receptor substrate 4 (IRS4) to mediate translocation of alpha-5 integrin from the cell membrane to endosomes. Expression of this protein was reduced in human breast cancers while its overexpression reduced tumor growth and metastasis; possibly by limiting the expression of alpha-5 integrin. In human cardiac tissue, this gene was found to affect cell growth and death while in neural tissue it affected neuronal growth and differentiation. Alternative splicing results in multiple transcript variants encoding differerent isoforms. Some isoforms lack the expected C-terminal domains of a functional imidazoline receptor. [provided by RefSeq, Jan 2013]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","NIT1","chr1",161089014,161089014,"NM_005600","C","A","missense","SNM","NA","NA","NA","c.189C>A","p.N63K","NA",0.125,200,0.00961538,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nitrilase 1","AI255805, ESTM30, W57327",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","OPA1","chr3",193382766,193382766,"NM_130837","G","T","missense","SNM","NA","NA","NA","c.2759G>T","p.R920M","NA",0.470588,51,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","OPA1, mitochondrial dynamin like GTPase","BERHS, MGM1, MTDPS14, NPG, NTG, largeG","The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","OXSM","chr3",25833107,25833107,"NM_017897","A","G","missense","SNM","NA","NA","NA","c.596A>G","p.K199R","NA",0.329949,197,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","3-oxoacyl-ACP synthase, mitochondrial","CEM1, FASN2D, KASI, KS","This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PAWR","chr12",80014952,80014952,"NM_002583","C","A","missense","SNM","NA","NA","NA","c.552G>T","p.Q184H","NA",0.305439,239,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pro-apoptotic WT1 regulator","PAR4, Par-4","This gene encodes a tumor suppressor protein that selectively induces apoptosis in cancer cells through intracellular and extracellular mechanisms. The intracellular mechanism involves the inhibition of pro-survival pathways and the activation of Fas-mediated apoptosis, while the extracellular mechanism involves the binding of a secreted form of this protein to glucose regulated protein 78 (GRP78) on the cell surface, which leads to activation of the extrinsic apoptotic pathway. This gene is located on the unstable human chromosomal 12q21 region and is often deleted or mutated different tumors. The encoded protein also plays an important role in the progression of age-related diseases. [provided by RefSeq, Aug 2017]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PCDHB14","chr5",140605119,140605119,"NM_018934","C","A","missense","SNM","NA","NA","NA","c.2042C>A","p.A681D","NA",0.276923,65,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protocadherin beta 14","PCDH-BETA14","This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDZRN3","chr3",73433615,73433615,"NM_015009","C","A","missense","SNM","NA","NA","NA","c.2102G>T","p.S701I","NA",0.804598,87,0.0140845,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PDZ domain containing ring finger 3","LNX3, SEMACAP3, SEMCAP3","This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PI4KA","chr22",21159361,21159361,"NM_058004","C","G","missense","SNM","NA","NA","NA","c.1261G>C","p.A421P","NA",0.312,125,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol 4-kinase alpha","PI4K-ALPHA, PIK4CA, PMGYCHA, pi4K230","This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PIR","chrX",15474126,15474126,"NM_003662","C","G","missense","SNM","NA","NA","NA","c.325G>C","p.E109Q","NA",0.735632,87,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pirin",null,"This gene encodes a member of the cupin superfamily. The encoded protein is an Fe(II)-containing nuclear protein expressed in all tissues of the body and concentrated within dot-like subnuclear structures. Interactions with nuclear factor I/CCAAT box transcription factor as well as B cell lymphoma 3-encoded oncoprotein suggest the encoded protein may act as a transcriptional cofactor and be involved in the regulation of DNA transcription and replication. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLK1","chr16",23695242,23695242,"NM_005030","C","T","missense","SNM","NA","NA","NA","c.868C>T","p.P290S","NA",0.2,205,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polo like kinase 1","PLK, STPK13","The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","POFUT1","chr20",30816242,30816242,"NM_015352","G","A","missense","SNM","NA","NA","NA","c.719G>A","p.R240H","NA",0.375587,210,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein O-fucosyltransferase 1","O-FucT-1, mKIAA0180",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","POM121","chr7",72416206,72416206,"NM_172020","C","G","missense","SNM","NA","NA","NA","c.2816C>G","p.S939C","NA",0.283951,161,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","POM121 transmembrane nucleoporin","P145, POM121A","This gene encodes a transmembrane protein that localizes to the inner nuclear membrane and forms a core component of the nuclear pore complex, which mediates transport to and from the nucleus. The encoded protein may anchor this complex to the nuclear envelope. There are multiple related genes and pseudogenes for this gene on chromosomes 5, 7, 15, and 22. Alternatively spliced transcript variants encoding different isoforms have been observed. [provided by RefSeq, Jul 2013]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PREP","chr6",105726033,105726033,"NM_002726","C","A","missense","SNM","NA","NA","NA","c.2119G>T","p.D707Y","NA",0.6875,144,0.00925926,108,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","prolyl endopeptidase","PE, PEP","The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PSD","chr10",104174747,104174747,"NM_002779","G","A","missense","SNM","NA","NA","NA","c.997C>T","p.P333S","NA",0.234899,149,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pleckstrin and Sec7 domain containing","EFA6, EFA6A, PSD1, TYL","This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","PSMA4","chr15",78838071,78838071,"NM_001102667","G","C","missense","SNM","NA","NA","NA","c.472G>C","p.G158R","NA",0.318841,137,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","proteasome subunit alpha 4","HC9, HsT17706, PSC9","This gene encodes a core alpha subunit of the 20S proteosome, which is a highly ordered ring-shaped structure composed of four rings of 28 non-identical subunits. Proteasomes cleave peptides in an ATP- and ubiquitin-dependent manner. [provided by RefSeq, Aug 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAB3GAP2","chr1",220383780,220383780,"NM_012414","G","C","missense","SNM","NA","NA","NA","c.562C>G","p.L188V","NA",0.174699,166,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAB3 GTPase activating non-catalytic protein subunit 2","RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150","The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAD17","chr5",68684927,68684927,"NM_133339","G","A","missense","SNM","NA","NA","NA","c.994G>A","p.D332N","NA",0.204301,93,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAD17 checkpoint clamp loader component","CCYC, HRAD17, R24L, RAD17SP, RAD24","The protein encoded by this gene is highly similar to the gene product of Schizosaccharomyces pombe rad17, a cell cycle checkpoint gene required for cell cycle arrest and DNA damage repair in response to DNA damage. This protein shares strong similarity with DNA replication factor C (RFC), and can form a complex with RFCs. This protein binds to chromatin prior to DNA damage and is phosphorylated by the checkpoint kinase ATR following damage. This protein recruits the RAD1-RAD9-HUS1 checkpoint protein complex onto chromatin after DNA damage, which may be required for its phosphorylation. The phosphorylation of this protein is required for the DNA-damage-induced cell cycle G2 arrest, and is thought to be a critical early event during checkpoint signaling in DNA-damaged cells. Multiple alternatively spliced transcript variants of this gene, which encode four distinct protein isoforms, have been reported. Two pseudogenes, located on chromosomes 7 and 13, have been identified. [provided by RefSeq, Jul 2013]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","RARS","chr5",167944951,167944951,"NM_002887","A","G","missense","SNM","NA","NA","NA","c.1757A>G","p.Q586R","NA",0.608108,74,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","arginyl-tRNA synthetase","ArgRS, DALRD1, HLD9","Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Arginyl-tRNA synthetase belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ROCK1","chr18",18629092,18629092,"NM_005406","C","A","missense","SNM","NA","NA","NA","c.375G>T","p.R125S","NA",0.232143,56,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho associated coiled-coil containing protein kinase 1","P160ROCK, ROCK-I","This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibroblasts, as well as adhesion and aggregation of platelets and lymphocytes by shuttling between the inactive GDP-bound form and the active GTP-bound form. Rho is also essential in cytokinesis and plays a role in transcriptional activation by serum response factor. This protein, a downstream effector of Rho, phosphorylates and activates LIM kinase, which in turn, phosphorylates cofilin, inhibiting its actin-depolymerizing activity. A pseudogene, related to this gene, is also located on chromosome 18. [provided by RefSeq, Aug 2015]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SCN3A","chr2",165946676,165946676,"NM_006922","C","A","missense","SNM","NA","NA","NA","c.5987G>T","p.R1996I","NA",0.221053,95,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sodium voltage-gated channel alpha subunit 3","EIEE62, FFEVF4, NAC3, Nav1.3","Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SEMA4G","chr10",102732770,102732770,"NM_017893","C","A","missense","SNM","NA","NA","NA","c.101C>A","p.P34H","NA",0.335484,155,0,127,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","semaphorin 4G",null,"Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SKIV2L2","chr5",54640976,54640976,"NM_015360","G","T","missense","SNM","NA","NA","NA","c.1060G>T","p.G354C","NA",0.26087,46,0,18,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Ski2 like RNA helicase 2",null,null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMU1","chr9",33056149,33056149,"NM_018225","G","T","missense","SNM","NA","NA","NA","c.1084C>A","p.H362N","NA",0.76,75,0.0363636,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SMU1, DNA replication regulator and spliceosomal factor","BWD, SMU-1, fSAP57",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SNRNP40","chr1",31762149,31762149,"NM_004814","C","A","missense","SNM","NA","NA","NA","c.483G>T","p.R161S","NA",0.224138,174,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","small nuclear ribonucleoprotein U5 subunit 40","40K, HPRP8BP, PRP8BP, PRPF8BP, SPF38, WDR57","This gene encodes a component of the U5 small nuclear ribonucleoprotein (snRNP) particle. The U5 snRNP is part of the spliceosome, a multiprotein complex that catalyzes the removal of introns from pre-messenger RNAs. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SOBP","chr6",107827519,107827520,"NM_018013","AG","TT","missense","DNM","NA","NA","NA","c.309_310delinsTT","p.G104W","NA",0.751344,92,0.00704225,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sine oculis binding protein homolog","JXC1, MRAMS","The protein encoded by this gene is a nuclear zinc finger protein that is involved in development of the cochlea. Defects in this gene have also been linked to intellectual disability. [provided by RefSeq, Mar 2011]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SQSTM1","chr5",179251302,179251302,"NM_003900","C","T","missense","SNM","NA","NA","NA","c.652C>T","p.P218S","NA",0.225,79,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sequestosome 1","A170, DMRV, FTDALS3, NADGP, OSIL, PDB3, ZIP3, p60, p62, p62B","This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SRFBP1","chr5",121330352,121330352,"NM_152546","A","T","missense","SNM","NA","NA","NA","c.257A>T","p.K86I","NA",0.454545,44,0,15,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serum response factor binding protein 1","BUD22, P49, Rlb1, STRAP, p49/STRAP",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","SRPK2","chr7",104773294,104773294,"NM_182692","C","A","missense","SNM","NA","NA","NA","c.1696G>T","p.V566F","NA",0.201439,139,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SRSF protein kinase 2","SFRSK2",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK11","chr19",1220469,1220469,"NM_000455","G","-","frameshift deletion","DEL","NA","NA","NA","c.562delG","p.G188fs","NA",0.715847,183,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","STXBP3","chr1",109350141,109350141,"NM_007269","C","T","stopgain","SNM","NA","NA","NA","c.1654C>T","p.Q552*","NA",0.504854,103,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","syntaxin binding protein 3","Munc-18c, Stxbp3a, Sxtbp3, Unc18-3",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TBC1D5","chr3",17416139,17416139,"NM_001134381","T","C","missense","SNM","NA","NA","NA","c.734A>G","p.Y245C","NA",0.506944,144,0.0166667,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TBC1 domain family member 5",null,null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM38B","chr9",108536197,108536197,"NM_018112","G","C","missense","SNM","NA","NA","NA","c.712G>C","p.D238H","NA",0.758621,116,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 38B","C9orf87, D4Ertd89e, OI14, TRIC-B, TRICB, bA219P18.1","This gene encodes an intracellular monovalent cation channel that functions in maintenance of intracellular calcium release. Mutations in this gene may be associated with autosomal recessive osteogenesis. [provided by RefSeq, Oct 2012]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578406,7578406,"NM_000546","C","T","missense","SNM","NA","NA","NA","c.524G>A","p.R175H","NA",0.746377,138,0.0168067,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRIO","chr5",14419940,14419940,"NM_007118","C","G","missense","SNM","NA","NA","NA","c.5013C>G","p.N1671K","NA",0.427481,131,0.0135135,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","trio Rho guanine nucleotide exchange factor","ARHGEF23, MEBAS, MRD44, tgat","This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRIP11","chr14",92471137,92471137,"NM_004239","A","C","missense","SNM","NA","NA","NA","c.3183T>G","p.I1061M","NA",0.224719,89,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thyroid hormone receptor interactor 11","ACG1A, CEV14, GMAP-210, GMAP210, TRIP-11, TRIP230","This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRPC4","chr13",38225583,38225583,"NM_003306","A","G","missense","SNM","NA","NA","NA","c.1898T>C","p.I633T","NA",0.787879,131,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transient receptor potential cation channel subfamily C member 4","HTRP-4, HTRP4, TRP4","This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRPC4","chr13",38320135,38320136,"NM_003306","TC","AA","missense","DNM","NA","NA","NA","c.835_836delinsTT","p.E279L","NA",0.631068,103,0.0127393,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transient receptor potential cation channel subfamily C member 4","HTRP-4, HTRP4, TRP4","This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","TSHZ1","chr18",72999877,72999877,"NM_005786","G","T","missense","SNM","NA","NA","NA","c.2380G>T","p.D794Y","NA",0.373494,83,0.0192308,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","teashirt zinc finger family member 1","5730407I04Rik, D18Bwg1409e, Mtsh1, NY-CO-33, Sdccag33, Tsh1, teashirt1",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","URB2","chr1",229783363,229783363,"NM_014777","G","A","missense","SNM","NA","NA","NA","c.4013G>A","p.G1338D","NA",0.564444,224,0.00847458,118,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","URB2 ribosome biogenesis homolog","KIAA0133, NET10, NPA2",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","VMP1","chr17",57816238,57816238,"NM_030938","A","T","missense","SNM","NA","NA","NA","c.344A>T","p.Y115F","NA",0.405797,207,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","vacuole membrane protein 1","EPG3, TANGO5, TMEM49","This gene encodes a transmembrane protein that plays a key regulatory role in the process of autophagy. The ectopic overexpression of the encoded protein in cultured cells triggers autophagy even under nutrient-rich conditions. This gene is overexpressed in pancreatitis affected acinar cells where the encoded protein mediates sequestration and degradation of potentially deleterious activated zymogen granules in a process termed, zymophagy. [provided by RefSeq, Jul 2016]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","VPS45","chr1",150064107,150064107,"NM_007259","A","T","missense","SNM","NA","NA","NA","c.1181A>T","p.H394L","NA",0.209581,167,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","vacuolar protein sorting 45 homolog","H1, H1VPS45, SCN5, VPS45A, VPS45B, VPS54A, VSP45, VSP45A","Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec1 domain family, and shows a high degree of sequence similarity to mouse, rat and yeast Vps45. The exact function of this gene is not known, but its high expression in peripheral blood mononuclear cells suggests a role in trafficking proteins, including inflammatory mediators. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2013]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","WRN","chr8",30954328,30954328,"NM_000553","G","A","missense","SNM","NA","NA","NA","c.1943G>A","p.G648D","NA",0.666667,39,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Werner syndrome RecQ like helicase","RECQ3, RECQL2, RECQL3","This gene encodes a member of the RecQ subfamily of DNA helicase proteins. The encoded nuclear protein is important in the maintenance of genome stability and plays a role in DNA repair, replication, transcription and telomere maintenance. This protein contains a N-terminal 3' to 5' exonuclease domain, an ATP-dependent helicase domain and RQC (RecQ helicase conserved region) domain in its central region, and a C-terminal HRDC (helicase RNase D C-terminal) domain and nuclear localization signal. Defects in this gene are the cause of Werner syndrome, an autosomal recessive disorder characterized by accelerated aging and an elevated risk for certain cancers. [provided by RefSeq, Aug 2017]","NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZBTB11","chr3",101391057,101391057,"NM_014415","C","A","missense","SNM","NA","NA","NA","c.311G>T","p.G104V","NA",0.237113,97,0.0238095,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger and BTB domain containing 11","9230110G02Rik, ZNF-U69274",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF326","chr1",90483012,90483012,"NM_182976","G","C","missense","SNM","NA","NA","NA","c.1063G>C","p.E355Q","NA",0.7,50,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 326","ZAN75, ZIRD, Zfp326, dJ871E2.1",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF343","chr20",2473386,2473386,"NM_024325","T","A","missense","SNM","NA","NA","NA","c.263A>T","p.K88I","NA",0.42735,234,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 343","dJ734P14.5",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF512B","chr20",62598082,62598082,"NM_020713","A","T","missense","SNM","NA","NA","NA","c.446T>A","p.F149Y","NA",0.37415,147,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 512B","GM632",null,"NA"]
["S00608","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF804A","chr2",185802228,185802228,"NM_194250","G","T","missense","SNM","NA","NA","NA","c.2105G>T","p.G702V","NA",0.577465,71,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 804A","C2orf10","The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","AASDH","chr4",57204875,57204875,"NM_181806","T","C","missense","SNM","NA","NA","NA","c.2990A>G","p.H997R","NA",0.431818,88,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aminoadipate-semialdehyde dehydrogenase","A230062G08Rik, A830035E16, Acsf4, U26","The gene product is a cytosolic enzyme involved in the production of alpha-aminoadipic acid from alpha-aminoadipic semialdehyde. It is postulated that this enzyme plays a role in lysine metabolism. There is currently debate regarding this enzyme's putative requirement of pyrroloquinoline quinine as an essential cofactor. A related pseudogene has been identified on chromosome 2. [provided by RefSeq, Jan 2010]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ABCA1","chr9",107591219,107591219,"NM_005502","C","A","missense","SNM","NA","NA","NA","c.2093G>T","p.G698V","NA",0.573171,163,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP binding cassette subfamily A member 1","ABC-1, ABC1, CERP, HDLDT1, TGD","The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway.  Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ACACA","chr17",35583312,35583312,"NM_198834","A","C","missense","SNM","NA","NA","NA","c.3308T>G","p.L1103R","NA",0.373541,257,0,108,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acetyl-CoA carboxylase alpha","ACAC, ACACAD, ACC, ACC1, ACCA","Acetyl-CoA carboxylase (ACC) is a complex multifunctional enzyme system. ACC is a biotin-containing enzyme which catalyzes the carboxylation of acetyl-CoA to malonyl-CoA, the rate-limiting step in fatty acid synthesis. There are two ACC forms, alpha and beta, encoded by two different genes. ACC-alpha is highly enriched in lipogenic tissues. The enzyme is under long term control at the transcriptional and translational levels and under short term regulation by the phosphorylation/dephosphorylation of targeted serine residues and by allosteric transformation by citrate or palmitoyl-CoA. Multiple alternatively spliced transcript variants divergent in the 5' sequence and encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ACADM","chr1",76198565,76198565,"NM_001127328","T","A","missense","SNM","NA","NA","NA","c.256T>A","p.W86R","NA",0.375,48,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA dehydrogenase medium chain","ACAD1, MCAD, MCADH","This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","AGRN","chr1",980762,980762,"NM_198576","G","T","missense","SNM","NA","NA","NA","c.2395G>T","p.G799C","NA",0.349593,123,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","agrin","Agrin, nmf380",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","AHNAK","chr11",62299275,62299275,"NM_001620","C","A","missense","SNM","NA","NA","NA","c.2614G>T","p.D872Y","NA",0.354839,310,0,136,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","AHNAK nucleoprotein","AHNAKRS, PM227","The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ALS2","chr2",202591562,202591562,"NM_020919","C","A","missense","SNM","NA","NA","NA","c.3007G>T","p.A1003S","NA",0.3879,281,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ALS2, alsin Rho guanine nucleotide exchange factor","ALS2CR6, ALSJ, IAHSP, PLSJ","The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ANAPC2","chr9",140082969,140082969,"NM_013366","C","A","missense","SNM","NA","NA","NA","c.16G>T","p.V6L","NA",0.607143,28,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","anaphase promoting complex subunit 2","APC2","A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The product of this gene is a component of the complex and shares sequence similarity with a recently identified family of proteins called cullins, which may also be involved in ubiquitin-mediated degradation. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","APEX2","chrX",55033551,55033551,"NM_014481","A","G","missense","SNM","NA","NA","NA","c.1240A>G","p.S414G","NA",0.698795,83,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","apurinic/apyrimidinic endonuclease 2","C430040P13Rik, ape2",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARHGAP32","chr11",128839145,128839145,"NM_001142685","G","A","missense","SNM","NA","NA","NA","c.5921C>T","p.T1974I","NA",0.33033,331,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho GTPase activating protein 32","GC-GAP, GRIT, PX-RICS, RICS, p200RhoGAP, p250GAP","RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP8B2","chr1",154304094,154304094,"NM_020452","G","T","missense","SNM","NA","NA","NA","c.477G>T","p.E159D","NA",0.381356,236,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase phospholipid transporting 8B2","ATPID","The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphatidylserine and phosphatidylethanolamine from one side of a bilayer to another. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","BRF1","chr14",105677565,105677565,"NM_001519","C","A","missense","SNM","NA","NA","NA","c.1890G>T","p.E630D","NA",0.4,85,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","BRF1, RNA polymerase III transcription initiation factor subunit","BRF, BRF-1, CFDS, GTF3B, HEL-S-76p, TAF3B2, TAF3C, TAFIII90, TF3B90, TFIIIB90, hBRF","This gene encodes one of the three subunits of the RNA polymerase III transcription factor complex. This complex plays a central role in transcription initiation by RNA polymerase III on genes encoding tRNA, 5S rRNA, and other small structural RNAs. The gene product belongs to the TF2B family. Several alternatively spliced variants encoding different isoforms, that function at different promoters transcribed by RNA polymerase III, have been identified. [provided by RefSeq, Jun 2011]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","BRMS1","chr11",66107633,66107633,"NM_001024957","G","A","missense","SNM","NA","NA","NA","c.587C>T","p.S196F","NA",0.426667,150,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","BRMS1, transcriptional repressor and anoikis regulator",null,"This gene reduces the metastatic potential, but not the tumorogenicity, of human breast cancer and melanoma cell lines. The protein encoded by this gene localizes primarily to the nucleus and is a component of the mSin3a family of histone deacetylase complexes (HDAC). The protein contains two coiled-coil motifs and several imperfect leucine zipper motifs. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","BRPF1","chr3",9787999,9787999,"NM_001003694","A","G","missense","SNM","NA","NA","NA","c.3340A>G","p.M1114V","NA",0.679012,80,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bromodomain and PHD finger containing 1","BR140, IDDDFP","This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","CALHM2","chr10",105209449,105209449,"NM_015916","C","T","missense","SNM","NA","NA","NA","c.250G>A","p.A84T","NA",0.606557,61,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","calcium homeostasis modulator family member 2","FAM26B",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","CDC123","chr10",12279154,12279154,"NM_006023","A","G","missense","SNM","NA","NA","NA","c.577A>G","p.R193G","NA",0.338235,68,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cell division cycle 123","C10orf7, D123",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","CEP120","chr5",122714043,122714043,"NM_153223","C","A","missense","SNM","NA","NA","NA","c.2183G>T","p.S728I","NA",0.606061,33,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centrosomal protein 120","CCDC100, JBTS31, SRTD13","This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHRAC1","chr8",141524566,141524566,"NM_017444","G","T","missense","SNM","NA","NA","NA","c.246G>T","p.Q82H","NA",0.647059,34,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromatin accessibility complex subunit 1","CHARC1, CHARC15, CHRAC-1, CHRAC-15, CHRAC15, YCL1","CHRAC1 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","CLIP3","chr19",36517920,36517920,"NM_001199570","C","A","missense","SNM","NA","NA","NA","c.334G>T","p.D112Y","NA",0.651899,158,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CAP-Gly domain containing linker protein 3","CLIPR-59, CLIPR59, RSNL1","This gene encodes a member of the cytoplasmic linker protein 170 family. Members of this protein family contain a cytoskeleton-associated protein glycine-rich domain and mediate the interaction of microtubules with cellular organelles. The encoded protein plays a role in T cell apoptosis by facilitating the association of tubulin and the lipid raft ganglioside GD3. The encoded protein also functions as a scaffold protein mediating membrane localization of phosphorylated protein kinase B. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","CYB561","chr17",61514808,61514808,"NM_001915","C","A","missense","SNM","NA","NA","NA","c.101G>T","p.W34L","NA",0.344371,151,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cytochrome b561","CYB561A1, FRRS2",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDX58","chr9",32481435,32481435,"NM_014314","A","G","missense","SNM","NA","NA","NA","c.1541T>C","p.V514A","NA",0.488235,169,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DExD/H-box helicase 58","RIG-I, RIGI, RLR-1, SGMRT2","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases which are implicated in a number of cellular processes involving RNA binding and alteration of RNA secondary structure. This gene encodes a protein containing RNA helicase-DEAD box protein motifs and a caspase recruitment domain (CARD). It is involved in viral double-stranded (ds) RNA recognition and the regulation of immune response. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","EIF4ENIF1","chr22",31854558,31854558,"NM_019843","T","G","missense","SNM","NA","NA","NA","c.866A>C","p.Q289P","NA",0.607595,79,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation initiation factor 4E nuclear import factor 1","4E-T, Clast4","The protein encoded by this gene is a nucleocytoplasmic shuttle protein for the translation initiation factor eIF4E. This shuttle protein interacts with the importin alpha-beta complex to mediate nuclear import of eIF4E. It is predominantly cytoplasmic; its own nuclear import is regulated by a nuclear localization signal and nuclear export signals. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2009]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","EPS8L2","chr11",710437,710437,"NM_022772","A","T","missense","SNM","NA","NA","NA","c.116A>T","p.Y39F","NA",0.371287,202,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","EPS8 like 2","DFNB106, EPS8R2","This gene encodes a member of the EPS8 gene family. The encoded protein, like other members of the family, is thought to link growth factor stimulation to actin organization, generating functional redundancy in the pathways that regulate actin cytoskeletal remodeling. [provided by RefSeq, Dec 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM82A2","chr15",41036247,41036247,"NM_018145","T","C","missense","SNM","NA","NA","NA","c.908A>G","p.D303G","NA",0.652778,72,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","regulator of microtubule dynamics 3","FAM82A2, FAM82C, RMD-3, RMD3, ptpip51",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","FLVCR1","chr1",213032138,213032138,"NM_014053","G","A","missense","SNM","NA","NA","NA","c.344G>A","p.S115N","NA",0.472727,55,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","feline leukemia virus subgroup C cellular receptor 1","AXPC1, FLVCR, MFSD7B, PCA, PCARP","This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","GANC","chr15",42631914,42631914,"NM_198141","C","T","missense","SNM","NA","NA","NA","c.1891C>T","p.R631C","NA",0.608247,97,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glucosidase alpha, neutral C",null,"Glycosyl hydrolase enzymes hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. This gene encodes a member of glycosyl hydrolases family 31. This enzyme hydrolyses terminal, non-reducing 1,4-linked alpha-D-glucose residues and releases alpha-D-glucose. This is a key enzyme in glycogen metabolism and its gene localizes to a chromosomal region (15q15) that is associated with susceptibility to diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2014]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","GTF3C3","chr2",197637650,197637650,"NM_012086","T","A","missense","SNM","NA","NA","NA","c.2059A>T","p.N687Y","NA",0.295918,98,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","general transcription factor IIIC subunit 3","TFIIIC102, TFIIICgamma, TFiiiC2-102","The protein encoded by this gene is part of the TFIIIC2 complex, which binds to the promoters of small nuclear and cytoplasmic RNA genes in order to recruit RNA polymerase III. The TFIIIC2 complex is composed of six subunits. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","HPS1","chr10",100182235,100182235,"NM_000195","A","C","missense","SNM","NA","NA","NA","c.1634T>G","p.I545S","NA",0.594937,79,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HPS1, biogenesis of lysosomal organelles complex 3 subunit 1","BLOC3S1, HPS","This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on chromosome 22. [provided by RefSeq, Aug 2015]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","JHDM1D","chr7",139797350,139797350,"NM_030647","C","A","missense","SNM","NA","NA","NA","c.2011G>T","p.A671S","NA",0.65625,96,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine demethylase 7A","JHDM1D",null,"Demeth"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIAA0240","chr6",42796234,42796234,"NM_015349","G","A","missense","SNM","NA","NA","NA","c.163G>A","p.A55T","NA",0.485714,105,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","BRD4 interacting chromatin remodeling complex associated protein like","GLTSCR1L, KIAA0240",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIF18A","chr11",28042821,28042821,"NM_031217","T","C","missense","SNM","NA","NA","NA","c.2623A>G","p.R875G","NA",0.386364,44,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kinesin family member 18A","MS-KIF18A, PPP1R99","KIF18A is a member of the kinesin superfamily of microtubule-associated molecular motors (see MIM 148760) that use hydrolysis of ATP to produce force and movement along microtubules (Luboshits and Benayahu, 2005 [PubMed 15878648]).[supplied by OMIM, Aug 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIF21A","chr12",39760207,39760207,"NM_001173464","C","T","missense","SNM","NA","NA","NA","c.848G>A","p.R283H","NA",0.333333,144,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kinesin family member 21A","CFEOM1, FEOM1, FEOM3A","This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","LIPT1","chr2",99779061,99779061,"NM_145198","A","G","missense","SNM","NA","NA","NA","c.641A>G","p.N214S","NA",0.705128,78,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lipoyltransferase 1","LIPT1D","The process of transferring lipoic acid to proteins is a two-step process. The first step is the activation of lipoic acid by lipoate-activating enzyme to form lipoyl-AMP. For the second step, the protein encoded by this gene transfers the lipoyl moiety to apoproteins. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 13. Read-through transcription also exists between this gene and the neighboring downstream mitochondrial ribosomal protein L30 (MRPL30) gene. [provided by RefSeq, Mar 2011]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRIG3","chr12",59282622,59282622,"NM_153377","C","T","missense","SNM","NA","NA","NA","c.782G>A","p.G261E","NA",0.412935,201,0,128,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeats and immunoglobulin like domains 3","LIG3",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAP4K3","chr2",39499451,39499451,"NM_003618","T","A","missense","SNM","NA","NA","NA","c.1946A>T","p.H649L","NA",0.409722,144,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase kinase kinase kinase 3","GLK, MAPKKKK3, MEKKK 3, MEKKK3, RAB8IPL1","This gene encodes a member of the mitogen-activated protein kinase kinase kinase kinase family. The encoded protein activates key effectors in cell signalling, among them c-Jun. Alternatively spliced transcripts encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","METTL22","chr16",8729106,8729106,"NM_024109","G","T","missense","SNM","NA","NA","NA","c.637G>T","p.G213W","NA",0.670588,85,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","methyltransferase like 22","C16orf68","This gene encodes a member of the non-histone lysine methyltransferases. It interacts with its substrate, Kin17, which is involved in DNA repair and replication and mRNA processing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","NF1","chr17",29665152,29665152,"NM_001042492","A","T","missense","SNM","NA","NA","NA","c.6814A>T","p.S2272C","NA",0.688525,61,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","neurofibromin 1","NFNS, VRNF, WSS","This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA&gt;UGA-&gt;Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","NFE2L3","chr7",26224168,26224168,"NM_004289","G","C","missense","SNM","NA","NA","NA","c.850G>C","p.D284H","NA",0.555556,45,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear factor, erythroid 2 like 3","NRF3","This gene encodes a member of the cap 'n' collar basic-region leucine zipper family of transcription factors. The encoded protein heterodimerizes with small musculoaponeurotic fibrosarcoma factors to bind antioxidant response elements in target genes. This protein is a membrane bound glycoprotein that is targeted to the endoplasmic reticulum and the nuclear envelope. Pseudogenes of this gene are found on chromosomes 16, 17, and 18. [provided by RefSeq, Mar 2009]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","NLRC5","chr16",57095373,57095373,"NM_032206","A","T","missense","SNM","NA","NA","NA","c.4000A>T","p.S1334C","NA",0.6,40,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NLR family CARD domain containing 5","CLR16.1, NOD27, NOD4","This gene encodes a member of the caspase recruitment domain-containing NLR family. This gene plays a role in cytokine response and antiviral immunity through its inhibition of NF-kappa-B activation and negative regulation of type I interferon signaling pathways. [provided by RefSeq, Oct 2011]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","NOTCH1","chr9",139417452,139417452,"NM_017617","C","T","missense","SNM","NA","NA","NA","c.592G>A","p.E198K","NA",0.694915,59,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","notch 1","AOS5, AOVD1, TAN1, hN1","This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","NUAK1","chr12",106461248,106461248,"NM_014840","C","A","missense","SNM","NA","NA","NA","c.1318G>T","p.V440L","NA",0.392523,214,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NUAK family kinase 1","ARK5",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ORAI2","chr7",102086988,102086988,"NM_001126340","C","T","missense","SNM","NA","NA","NA","c.254C>T","p.T85M","NA",0.617284,81,0,28,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ORAI calcium release-activated calcium modulator 2","C7orf19, CBCIP2, MEM142B, TMEM142B",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","PHKA2","chrX",18972481,18972481,"NM_000292","C","A","missense","SNM","NA","NA","NA","c.128G>T","p.W43L","NA",0.769231,104,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphorylase kinase regulatory subunit alpha 2","GSD9A, PHK, PYK, PYKL, XLG, XLG2","Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9A, also known as X-linked liver glycogenosis. Alternatively spliced transcript variants have been reported, but the full-length nature of these variants has not been determined.[provided by RefSeq, Feb 2010]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","PIAS4","chr19",4013311,4013311,"NM_015897","A","T","missense","SNM","NA","NA","NA","c.418A>T","p.N140Y","NA",0.666667,42,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein inhibitor of activated STAT 4","PIAS-gamma, PIASY, Piasg, ZMIZ6",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","PPP2R1A","chr19",52724309,52724309,"NM_014225","A","G","missense","SNM","NA","NA","NA","c.1441A>G","p.T481A","NA",0.545946,183,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein phosphatase 2 scaffold subunit Aalpha","MRD36, PP2A-Aalpha, PP2AA, PP2AAALPHA, PR65A","This gene encodes a constant regulatory subunit of protein phosphatase 2. Protein phosphatase 2 is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The constant regulatory subunit A serves as a scaffolding molecule to coordinate the assembly of the catalytic subunit and a variable regulatory B subunit. This gene encodes an alpha isoform of the constant regulatory subunit A. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRIC285","chr20",62198274,62198274,"NM_001037335","C","A","stopgain","SNM","NA","NA","NA","c.2437G>T","p.E813*","NA",0.46988,83,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","peroxisomal proliferator-activated receptor A interacting complex 285",null,null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRMT2","chr21",48063516,48063516,"NM_001535","G","A","missense","SNM","NA","NA","NA","c.109G>A","p.A37T","NA",0.43617,93,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein arginine methyltransferase 2","HRMT1L1",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","PTPN11","chr12",112924351,112924351,"NM_002834","G","T","missense","SNM","NA","NA","NA","c.1297G>T","p.G433W","NA",0.356164,146,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein tyrosine phosphatase, non-receptor type 11","BPTP3, CFC, JMML, METCDS, NS1, PTP-1D, PTP2C, SH-PTP2, SH-PTP3, SHP2","The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. [provided by RefSeq, Aug 2016]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","RB1","chr13",48941628,48941628,"NM_000321","A","T","splicing","SNM","NA","NA","NA","c.940_splice","e10-2","NA",0.5625,32,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","RNF43","chr17",56434834,56434834,"NM_017763","T","A","missense","SNM","NA","NA","NA","c.2303A>T","p.Q768L","NA",0.336,125,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 43","RNF124, SSPCS, URCC","The protein encoded by this gene is a RING-type E3 ubiquitin ligase and is predicted to contain a transmembrane domain, a protease-associated domain, an ectodomain, and a cytoplasmic RING domain. This protein is thought to negatively regulate Wnt signaling, and expression of this gene results in an increase in ubiquitination of frizzled receptors, an alteration in their subcellular distribution, resulting in reduced surface levels of these receptors. Mutations in this gene have been reported in multiple tumor cells, including colorectal and endometrial cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2015]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","SF3B3","chr16",70569301,70569301,"NM_012426","G","A","missense","SNM","NA","NA","NA","c.803G>A","p.R268H","NA",0.78125,64,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","splicing factor 3b subunit 3","RSE1, SAP130, SF3b130, STAF130","This gene encodes subunit 3 of the splicing factor 3b protein complex. Splicing factor 3b, together with splicing factor 3a and a 12S RNA unit, forms the U2 small nuclear ribonucleoproteins complex (U2 snRNP). The splicing factor 3b/3a complex binds pre-mRNA upstream of the intron's branch site in a sequence independent manner and may anchor the U2 snRNP to the pre-mRNA. Splicing factor 3b is also a component of the minor U12-type spliceosome. Subunit 3 has also been identified as a component of the STAGA (SPT3-TAF(II)31-GCN5L acetylase) transcription coactivator-HAT (histone acetyltransferase) complex, and the TFTC (TATA-binding-protein-free TAF(II)-containing complex). These complexes may function in chromatin modification, transcription, splicing, and DNA repair. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMUG1","chr12",54577628,54577628,"NM_001243787","C","T","missense","SNM","NA","NA","NA","c.97G>A","p.E33K","NA",0.398148,108,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","single-strand-selective monofunctional uracil-DNA glycosylase 1","FDG, HMUDG, UNG3","This gene encodes a protein that participates in base excision repair by removing uracil from single- and double-stranded DNA. Many alternatively spliced transcript variants exist for this gene; the full-length nature is known for some but not all of the variants. [provided by RefSeq, Aug 2011]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPAG5","chr17",26906469,26906469,"NM_006461","C","T","missense","SNM","NA","NA","NA","c.2919G>A","p.M973I","NA",0.322034,177,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sperm associated antigen 5","DEEPEST, MAP126, hMAP126","This gene encodes a protein associated with the mitotic spindle apparatus. The encoded protein may be involved in the functional and dynamic regulation of mitotic spindles. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPAG6","chr10",22675719,22675719,"NM_012443","C","A","missense","SNM","NA","NA","NA","c.509C>A","p.P170H","NA",0.386139,202,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sperm associated antigen 6","CT141, Repro-SA-1, pf16","The correlation of anti-sperm antibodies with cases of unexplained infertility implicates a role for these antibodies in blocking fertilization. Improved diagnosis and treatment of immunologic infertility, as well as identification of proteins for targeted contraception, are dependent on the identification and characterization of relevant sperm antigens. The protein expressed by this gene is recognized by anti-sperm antibodies from an infertile man. This protein localizes to the tail of permeabilized human sperm and contains eight contiguous armadillo repeats, a motif known to mediate protein-protein interactions. Studies in mice suggest that this protein is involved in sperm flagellar motility and maintenance of the structural integrity of mature sperm. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPRED2","chr2",65571852,65571852,"NM_181784","C","A","splicing","SNM","NA","NA","NA","c.204_splice","e3+1","NA",0.334601,263,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sprouty related EVH1 domain containing 2","Spred-2","SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","THOP1","chr19",2810728,2810729,"NM_003249","GG","TC","missense","DNM","NA","NA","NA","c.1733_1734delinsTC","p.R578L","NA",0.688709,30,0,16,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thimet oligopeptidase 1","EP24.15, MEPD_HUMAN, MP78, TOP","The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","THOP1","chr19",2813135,2813135,"NM_003249","G","A","missense","SNM","NA","NA","NA","c.1931G>A","p.C644Y","NA",0.690476,42,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thimet oligopeptidase 1","EP24.15, MEPD_HUMAN, MP78, TOP","The protein encoded by this gene is a kininase that uses zinc as a cofactor. The encoded oligopeptidase cleaves cytosolic peptides, making them unavailable for display on antigen-presenting cells. This protein also cleaves neuropeptides under 20 aa in length and can degrade beta-amyloid precursor protein to amyloidogenic peptides. [provided by RefSeq, Nov 2015]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","THRAP3","chr1",36755314,36755314,"NM_005119","G","A","missense","SNM","NA","NA","NA","c.1694G>A","p.R565Q","NA",0.329268,163,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thyroid hormone receptor associated protein 3","BCLAF2, TRAP150",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","TIMM17A","chr1",201934632,201934632,"NM_006335","A","G","missense","SNM","NA","NA","NA","c.391A>G","p.I131V","NA",0.386503,162,0,98,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","translocase of inner mitochondrial membrane 17A","TIM17, TIM17A",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM108","chr3",133099079,133099079,"NM_001136469","G","T","missense","SNM","NA","NA","NA","c.524G>T","p.G175V","NA",0.215385,65,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 108","CT124, RTLN",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7577556,7577556,"NM_000546","C","A","missense","SNM","NA","NA","NA","c.725G>T","p.C242F","NA",0.58427,178,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","TPM3","chr1",154145657,154145657,"NM_152263","T","A","missense","SNM","NA","NA","NA","c.398A>T","p.N133I","NA",0.360902,133,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tropomyosin 3","CAPM1, CFTD, HEL-189, HEL-S-82p, NEM1, OK/SW-cl.5, TM-5, TM3, TM30, TM30nm, TM5, TPM3nu, TPMsk3, TRK, hscp30","This gene encodes a member of the tropomyosin family of actin-binding proteins. Tropomyosins are dimers of coiled-coil proteins that provide stability to actin filaments and regulate access of other actin-binding proteins. Mutations in this gene result in autosomal dominant nemaline myopathy and other muscle disorders. This locus is involved in translocations with other loci, including anaplastic lymphoma receptor tyrosine kinase (ALK) and neurotrophic tyrosine kinase receptor type 1 (NTRK1), which result in the formation of fusion proteins that act as oncogenes. There are numerous pseudogenes for this gene on different chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","TPR","chr1",186322973,186322973,"NM_003292","C","A","missense","SNM","NA","NA","NA","c.2181G>T","p.M727I","NA",0.300578,173,0,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","translocated promoter region, nuclear basket protein",null,"This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","TTLL7","chr1",84412917,84412917,"NM_024686","C","A","missense","SNM","NA","NA","NA","c.396G>T","p.W132C","NA",0.401869,107,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tubulin tyrosine ligase-like family, member 7","1110049N09Rik, 4921517B04Rik, C630030B20, mTTLL7",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP44","chr12",95927724,95927724,"NM_032147","A","T","missense","SNM","NA","NA","NA","c.309T>A","p.S103R","NA",0.354839,403,0,204,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 44",null,"The protein encoded by this gene is a protease that functions as a deubiquitinating enzyme. The encoded protein is thought to help regulate the spindle assembly checkpoint by preventing early anaphase onset. This protein specifically deubiquitinates CDC20, which stabilizes the anaphase promoting complex/cyclosome. [provided by RefSeq, Dec 2016]","NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","WDR52","chr3",113146126,113146126,"NM_001164496","C","A","missense","SNM","NA","NA","NA","c.161G>T","p.G54V","NA",0.306818,175,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WD repeat domain 52",null,null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","WDR67","chr8",124121848,124121848,"NM_145647","G","C","missense","SNM","NA","NA","NA","c.1424G>C","p.R475T","NA",0.464286,112,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","uncharacterized LOC105267486",null,null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZBTB11","chr3",101390158,101390158,"NM_014415","C","A","missense","SNM","NA","NA","NA","c.594G>T","p.Q198H","NA",0.256684,187,0,96,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger and BTB domain containing 11","9230110G02Rik, ZNF-U69274",null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF192","chr6",28116246,28116246,"NM_006298","G","T","missense","SNM","NA","NA","NA","c.61G>T","p.D21Y","NA",0.397436,156,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 192",null,null,"NA"]
["S00609","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF200","chr16",3274605,3274605,"NM_003454","C","A","missense","SNM","NA","NA","NA","c.475G>T","p.G159C","NA",0.5,40,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 200",null,null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATG5","chr6",106763995,106763995,"NM_004849","C","A","missense","SNM","NA","NA","NA","c.89G>T","p.R30M","NA",0.0546218,238,0,190,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","autophagy related 5","2010107M05Rik, 3110067M24Rik, AW319544, Apg5l, Atg5l, C88337, Paddy","The protein encoded by this gene, in combination with autophagy protein 12, functions as an E1-like activating enzyme in a ubiquitin-like conjugating system. The encoded protein is involved in several cellular processes, including autophagic vesicle formation, mitochondrial quality control after oxidative damage, negative regulation of the innate antiviral immune response, lymphocyte development and proliferation, MHC II antigen presentation, adipocyte differentiation, and apoptosis. Two transcript variants encoding different protein isoforms have been found for this gene. [provided by RefSeq, Sep 2015]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP6AP2","chrX",40460028,40460028,"NM_005765","G","C","missense","SNM","NA","NA","NA","c.753G>C","p.M251I","NA",0.245902,61,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase H+ transporting accessory protein 2","APT6M8-9, ATP6IP2, ATP6M8-9, ELDF10, HT028, M8-9, MRXE, MRXSH, MSTP009, PRR, RENR, XMRE, XPDS","This gene encodes a protein that is associated with adenosine triphosphatases (ATPases). Proton-translocating ATPases have fundamental roles in energy conservation, secondary active transport, acidification of intracellular compartments, and cellular pH homeostasis. There are three classes of ATPases- F, P, and V. The vacuolar (V-type) ATPases have a transmembrane proton-conducting sector and an extramembrane catalytic sector. The encoded protein has been found associated with the transmembrane sector of the V-type ATPases. [provided by RefSeq, Jul 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHID1","chr11",884126,884126,"NM_001142676","G","C","missense","SNM","NA","NA","NA","c.820C>G","p.L274V","NA",0.0655022,228,0,137,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chitinase domain containing 1","GL008, SI-CLP, SICLP",null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","DLAT","chr11",111899321,111899322,"NM_001931","GG","CT","missense","DNM","NA","NA","NA","c.464_465delinsCT","p.R155T","NA",0.117439,254,0,134,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dihydrolipoamide S-acetyltransferase","DLTA, PDC-E2, PDCE2","This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","DLG5","chr10",79616568,79616568,"NM_004747","C","A","missense","SNM","NA","NA","NA","c.456G>T","p.Q152H","NA",0.357724,123,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","discs large MAGUK scaffold protein 5","LP-DLG, P-DLG5, PDLG","This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","DYNC1H1","chr14",102483474,102483474,"NM_001376","A","C","missense","SNM","NA","NA","NA","c.7898A>C","p.K2633T","NA",0.0491803,305,0,157,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dynein cytoplasmic 1 heavy chain 1","CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22","Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","FKBP4","chr12",2910364,2910364,"NM_002014","G","C","missense","SNM","NA","NA","NA","c.1114G>C","p.A372P","NA",0.0897436,155,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FK506 binding protein 4","FKBP51, FKBP52, FKBP59, HBI, Hsp56, PPIase, p52","The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","H2AFZ","chr4",100870461,100870461,"NM_002106","C","A","missense","SNM","NA","NA","NA","c.164G>T","p.S55I","NA",0.163043,92,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","H2A histone family member Z","H2A.Z-1, H2A.z, H2A/z, H2AZ","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. [provided by RefSeq, Jul 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","HDGF","chr1",156714873,156714873,"NM_001126050","T","C","missense","SNM","NA","NA","NA","c.278A>G","p.N93S","NA",0.096,250,0,150,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","heparin binding growth factor","HMG1L2","This gene encodes a member of the hepatoma-derived growth factor family. The encoded protein has mitogenic and DNA-binding activity and may play a role in cellular proliferation and differentiation. High levels of expression of this gene enhance the growth of many tumors. This gene was thought initially to be located on chromosome X; however, that location has been determined to correspond to a related pseudogene. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jan 2016]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","JUNB","chr19",12903588,12903588,"NM_002229","G","T","missense","SNM","NA","NA","NA","c.1003G>T","p.G335C","NA",0.173913,69,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","jun B proto-oncogene",null,null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","LAMTOR1","chr11",71809855,71809855,"NM_017907","C","G","missense","SNM","NA","NA","NA","c.238G>C","p.E80Q","NA",0.0621469,177,0,108,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","late endosomal/lysosomal adaptor, MAPK and MTOR activator 1","C11orf59, PDRO, Ragulator1, p18, p27RF-Rho",null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRRC8D","chr1",90400754,90400754,"NM_018103","G","T","missense","SNM","NA","NA","NA","c.2127G>T","p.E709D","NA",0.285714,70,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat containing 8 VRAC subunit D","LRRC5",null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","LSS","chr21",47611064,47611064,"NM_002340","C","T","missense","SNM","NA","NA","NA","c.2153G>A","p.R718H","NA",0.162011,179,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lanosterol synthase","CTRCT44, OSC","The protein encoded by this gene catalyzes the conversion of (S)-2,3 oxidosqualene to lanosterol. The encoded protein is a member of the terpene cyclase/mutase family and catalyzes the first step in the biosynthesis of cholesterol, steroid hormones, and vitamin D. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2009]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","PIGS","chr17",26887125,26887125,"NM_033198","T","G","missense","SNM","NA","NA","NA","c.761A>C","p.Y254S","NA",0.104839,124,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol glycan anchor biosynthesis class S",null,null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRKRIR","chr11",76062044,76062044,"NM_004705","G","A","missense","SNM","NA","NA","NA","c.2150C>T","p.S717L","NA",0.1875,47,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)",null,null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","PYGL","chr14",51378718,51378718,"NM_002863","C","T","missense","SNM","NA","NA","NA","c.1805G>A","p.R602K","NA",0.0649351,307,0,174,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glycogen phosphorylase L","GSD6","This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","RNF40","chr16",30780866,30780866,"NM_014771","G","C","missense","SNM","NA","NA","NA","c.2531G>C","p.G844A","NA",0.079646,113,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 40","BRE1B, RBP95, STARING","The protein encoded by this gene contains a RING finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein was reported to interact with the tumor suppressor protein RB1. Studies of the rat counterpart suggested that this protein may function as an E3 ubiquitin-protein ligase, and facilitate the ubiquitination and degradation of syntaxin 1, which is an essential component of the neurotransmitter release machinery. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC35B3","chr6",8428175,8428175,"NM_001142541","C","A","missense","SNM","NA","NA","NA","c.414G>T","p.R138S","NA",0.119565,92,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 35 member B3","C6orf196, CGI-19, PAPST2","This gene is a member of the solute carrier family. The encoded protein is involved in the transport of 3-prime phosphoadenosine 5-prime phosphosulfate (PAPS) from the nucleus or the cytosol to the Golgi lumen. This gene has been reported to be expressed preferentially in the human colon tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMG5","chr1",156236359,156236359,"NM_015327","C","A","missense","SNM","NA","NA","NA","c.1228G>T","p.V410F","NA",0.0599369,317,0,169,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SMG5, nonsense mediated mRNA decay factor","EST1B, LPTS-RP1, LPTSRP1, SMG-5","SMG5 is involved in nonsense-mediated mRNA decay (Ohnishi et al., 2003 [PubMed 14636577]).[supplied by OMIM, Mar 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPIN4","chrX",62570087,62570087,"NM_001012968","C","A","missense","SNM","NA","NA","NA","c.612G>T","p.Q204H","NA",0.2,60,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","spindlin family member 4","TDRD28",null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","STAG2","chrX",123179116,123179116,"NM_001042750","A","T","missense","SNM","NA","NA","NA","c.565A>T","p.S189C","NA",0.310345,58,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","stromal antigen 2","SA-2, SA2, SCC3B, bA517O1.1","The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK11","chr19",1207009,1207009,"NM_000455","G","T","stopgain","SNM","NA","NA","NA","c.97G>T","p.E33*","NA",0.261905,84,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","TBC1D9B","chr5",179318383,179318383,"NM_198868","C","T","missense","SNM","NA","NA","NA","c.1040G>A","p.R347K","NA",0.13986,143,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TBC1 domain family member 9B","GRAMD9B",null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","THOC2","chrX",122747528,122747528,"NM_001081550","G","C","missense","SNM","NA","NA","NA","c.4481C>G","p.P1494R","NA",0.133333,119,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","THO complex 2","CXorf3, MRX12, MRX35, THO2, dJ506G2.1, hTREX120","The TREX multiprotein complex binds specifically to spliced mRNAs to facilitate mRNA export. The protein encoded by this gene is a member of the THO complex, a subset of the TREX complex. The encoded protein interacts with the THOC1 protein.[provided by RefSeq, Jun 2010]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM33","chr4",41956100,41956100,"NM_018126","G","A","missense","SNM","NA","NA","NA","c.628G>A","p.E210K","NA",0.114504,131,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 33","1600019D15Rik, SHINC-3, SHINC3",null,"NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7577138,7577138,"NM_000546","C","G","missense","SNM","NA","NA","NA","c.800G>C","p.R267P","NA",0.0909091,198,0,130,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578402,7578402,"NM_000546","G","C","missense","SNM","NA","NA","NA","c.528C>G","p.C176W","NA",0.175182,136,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP25","chr21",17250232,17250232,"NM_013396","G","A","missense","SNM","NA","NA","NA","c.2917G>A","p.E973K","NA",0.123967,121,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 25","USP21","Ubiquitin (MIM 191339) is a highly conserved 76-amino acid protein involved in regulation of intracellular protein breakdown, cell cycle regulation, and stress response. Ubiquitin is released from degraded proteins by disassembly of the polyubiquitin chains, which is mediated by ubiquitin-specific proteases (USPs), such as USP25 (Valero et al., 1999 [PubMed 10644437]).[supplied by OMIM, Mar 2008]","NA"]
["S00640","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZMIZ1","chr10",81070801,81070801,"NM_020338","C","G","missense","SNM","NA","NA","NA","c.2956C>G","p.P986A","NA",0.363636,219,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger MIZ-type containing 1","MIZ, RAI17, TRAFIP10, ZIMP10","This gene encodes a member of the PIAS (protein inhibitor of activated STAT) family of proteins. The encoded protein regulates the activity of various transcription factors, including the androgen receptor, Smad3/4, and p53. The encoded protein may also play a role in sumoylation. A translocation between this locus on chromosome 10 and the protein tyrosine kinase ABL1 locus on chromosome 9 has been associated with acute lymphoblastic leukemia. [provided by RefSeq, Mar 2010]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ABCF3","chr3",183911241,183911241,"NM_018358","G","A","splicing","SNM","NA","NA","NA","c.1971_splice","e20+1","NA",0.528169,426,0,161,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP binding cassette subfamily F member 3","EST201864","This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ATP-binding cassette proteins transport various molecules across extra- and intracellular membranes. The protein encoded by this gene displays antiviral effect against flaviviruses. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ACAD11","chr3",132280031,132280031,"NM_032169","G","C","missense","SNM","NA","NA","NA","c.2032C>G","p.R678G","NA",0.222222,197,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA dehydrogenase family member 11","ACAD-11","This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ADAMTS12","chr5",33624375,33624375,"NM_030955","G","A","stopgain","SNM","NA","NA","NA","c.2104C>T","p.Q702*","NA",0.352381,210,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 12","PRO4389","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ADAMTS18","chr16",77323229,77323229,"NM_199355","A","T","missense","SNM","NA","NA","NA","c.3482T>A","p.L1161Q","NA",0.356061,132,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 18","ADAMTS21, KNO2, MMCAT","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature protein, which may regulate hemostatic balance and function as a tumor suppressor. Mutations in this gene may be associated with microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) and cone-rod dystrophy in human patients. [provided by RefSeq, May 2016]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","AKAP1","chr17",55191942,55191942,"NM_003488","G","T","missense","SNM","NA","NA","NA","c.2226G>T","p.Q742H","NA",0.287129,404,0.00429185,233,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","A-kinase anchoring protein 1","AKAP, AKAP121, AKAP149, AKAP84, D-AKAP1, PPP1R43, PRKA1, SAKAP84, TDRD17","The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein binds to type I and type II regulatory subunits of PKA and anchors them to the mitochondrion. This protein is speculated to be involved in the cAMP-dependent signal transduction pathway and in directing RNA to a specific cellular compartment. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ANK2","chr4",114290938,114290938,"NM_001148","G","T","missense","SNM","NA","NA","NA","c.11587G>T","p.D3863Y","NA",0.40625,96,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ankyrin 2","ANK-2, LQT4, brank-2","This gene encodes a member of the ankyrin family of proteins that link the integral membrane proteins to the underlying spectrin-actin cytoskeleton. Ankyrins play key roles in activities such as cell motility, activation, proliferation, contact and the maintenance of specialized membrane domains. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved and subject to variation. The protein encoded by this gene is required for targeting and stability of Na/Ca exchanger 1 in cardiomyocytes. Mutations in this gene cause long QT syndrome 4 and cardiac arrhythmia syndrome. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Dec 2011]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ASAP1","chr8",131226864,131226864,"NM_018482","C","A","missense","SNM","NA","NA","NA","c.343G>T","p.G115C","NA",0.555556,81,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ArfGAP with SH3 domain, ankyrin repeat and PH domain 1","AMAP1, CENTB4, DDEF1, PAG2, PAP, ZG14P","This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ASAP2","chr2",9498972,9498972,"NM_003887","G","T","missense","SNM","NA","NA","NA","c.1415G>T","p.R472M","NA",0.48062,129,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ArfGAP with SH3 domain, ankyrin repeat and PH domain 2","AMAP2, CENTB3, DDEF2, PAG3, PAP, Pap-alpha, SHAG1","This gene encodes a multidomain protein containing an N-terminal alpha-helical region with a coiled-coil motif, followed by a pleckstrin homology (PH) domain, an Arf-GAP domain, an ankyrin homology region, a proline-rich region, and a C-terminal Src homology 3 (SH3) domain. The protein localizes in the Golgi apparatus and at the plasma membrane, where it colocalizes with protein tyrosine kinase 2-beta (PYK2). The encoded protein forms a stable complex with PYK2 in vivo. This interaction appears to be mediated by binding of its SH3 domain to the C-terminal proline-rich domain of PYK2. The encoded protein is tyrosine phosphorylated by activated PYK2. It has catalytic activity for class I and II ArfGAPs in vitro, and can bind the class III Arf ARF6 without immediate GAP activity. The encoded protein is believed to function as an ARF GAP that controls ARF-mediated vesicle budding when recruited to Golgi membranes. In addition, it functions as a substrate and downstream target for PYK2 and SRC, a pathway that may be involved in the regulation of vesicular transport. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ATG7","chr3",11383749,11383749,"NM_006395","T","G","missense","SNM","NA","NA","NA","c.1121T>G","p.L374W","NA",0.646018,113,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","autophagy related 7","1810013K23Rik, Agp7, Apg7l, Atg7l, Gm21553","This gene encodes an E1-like activating enzyme that is essential for autophagy and cytoplasmic to vacuole transport. The encoded protein is also thought to modulate p53-dependent cell cycle pathways during prolonged metabolic stress. It has been associated with multiple functions, including axon membrane trafficking, axonal homeostasis, mitophagy, adipose differentiation, and hematopoietic stem cell maintenance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","BSN","chr3",49690300,49690300,"NM_003458","C","G","missense","SNM","NA","NA","NA","c.3311C>G","p.S1104C","NA",0.57377,61,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bassoon",null,null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C11orf63","chr11",122805340,122805340,"NM_024806","G","T","missense","SNM","NA","NA","NA","c.1191G>T","p.Q397H","NA",0.367568,185,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","junctional cadherin complex regulator","C11orf63",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C1orf173","chr1",75038364,75038364,"NM_001002912","C","A","missense","SNM","NA","NA","NA","c.3030G>T","p.E1010D","NA",0.611588,466,0,146,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glutamate-rich protein 3","C1orf173, C8H1orf173",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C2orf29","chr2",101885796,101885796,"NM_017546","G","T","missense","SNM","NA","NA","NA","c.1454G>T","p.R485L","NA",0.32381,105,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CCR4-NOT transcription complex subunit 11","C2orf29, C40",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C3orf39","chr3",43121900,43121900,"NM_032806","C","A","missense","SNM","NA","NA","NA","c.1024G>T","p.V342F","NA",0.738095,126,0,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)","AGO61, C3orf39, GTDC2, MDDGA8","This gene encodes a protein with glycosyltransferase activity although its function is not currently known. [provided by RefSeq, Sep 2012]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C4orf43","chr4",164435291,164435291,"NM_018352","G","A","missense","SNM","NA","NA","NA","c.220G>A","p.A74T","NA",0.325,80,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","translation machinery associated 16 homolog","C4orf43",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CAPZA1","chr1",113209766,113209766,"NM_006135","C","T","missense","SNM","NA","NA","NA","c.656C>T","p.S219L","NA",0.3,150,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","capping actin protein of muscle Z-line subunit alpha 1","CAPPA1, CAPZ, CAZ1","CAPZA1 is a member of the F-actin capping protein alpha subunit family. This gene encodes the alpha subunit of the barbed-end actin binding protein.  The protein regulates growth of the actin filament by capping the barbed end of growing actin filaments. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CAPZA2","chr7",116528209,116528209,"NM_006136","A","G","missense","SNM","NA","NA","NA","c.68A>G","p.H23R","NA",0.3,70,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","capping actin protein of muscle Z-line subunit alpha 2","CAPPA2, CAPZ","The protein encoded by this gene is a member of the F-actin capping protein alpha subunit family. It is the alpha subunit of the barbed-end actin binding protein Cap Z. By capping the barbed end of actin filaments, Cap Z regulates the growth of the actin filaments at the barbed end. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CDH12","chr5",21760751,21760751,"NM_004061","G","C","missense","SNM","NA","NA","NA","c.1549C>G","p.L517V","NA",0.317647,85,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cadherin 12","CDHB","This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature cadherin protein. These integral membrane proteins mediate calcium-dependent cell-cell adhesion and are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. This particular cadherin appears to be expressed specifically in the brain and its temporal pattern of expression would be consistent with a role during a critical period of neuronal development, perhaps specifically during synaptogenesis. [provided by RefSeq, Nov 2015]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CSPP1","chr8",68076643,68076643,"NM_024790","A","G","missense","SNM","NA","NA","NA","c.2713A>G","p.I905V","NA",0.298701,77,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centrosome and spindle pole associated protein 1","CSPP, JBTS21","This gene encodes a centrosome and spindle pole associated protein. The encoded protein plays a role in cell-cycle progression and spindle organization, regulates cytokinesis, interacts with Nephrocystin 8 and is required for cilia formation. Mutations in this gene result in primary cilia abnormalities and classical Joubert syndrome. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Apr 2014]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","DBT","chr1",100681660,100681660,"NM_001918","C","A","missense","SNM","NA","NA","NA","c.651G>T","p.L217F","NA",0.521739,414,0,187,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dihydrolipoamide branched chain transacylase E2","BCATE2, BCKAD-E2, BCKADE2, BCOADC-E2, E2, E2B","The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","EIF3H","chr8",117671142,117671142,"NM_003756","T","C","missense","SNM","NA","NA","NA","c.367A>G","p.T123A","NA",0.259887,177,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation initiation factor 3 subunit H","EIF3S3, eIF3-gamma, eIF3-p40",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ELAC1","chr18",48513387,48513387,"NM_018696","G","A","missense","SNM","NA","NA","NA","c.1024G>A","p.V342M","NA",0.462025,158,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","elaC ribonuclease Z 1","D29",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ELAVL4","chr1",50610647,50610647,"NM_001144775","C","A","missense","SNM","NA","NA","NA","c.79C>A","p.P27T","NA",0.272727,154,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ELAV like RNA binding protein 4","Elav, Hud, PNEM",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","EPC1","chr10",32573721,32573721,"NM_025209","T","C","missense","SNM","NA","NA","NA","c.1649A>G","p.Y550C","NA",0.661654,133,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","enhancer of polycomb homolog 1","Epl1","This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","EXT1","chr8",118834761,118834761,"NM_000127","C","T","missense","SNM","NA","NA","NA","c.1360G>A","p.V454I","NA",0.508929,112,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exostosin glycosyltransferase 1","EXT, LGCR, LGS, TRPS2, TTV","This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","F11R","chr1",160969493,160969493,"NM_016946","G","C","missense","SNM","NA","NA","NA","c.739C>G","p.L247V","NA",0.5,116,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","F11 receptor","CD321, JAM, JAM1, JAMA, JCAM, KAT, PAM-1","Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","F11R","chr1",160969507,160969507,"NM_016946","G","A","missense","SNM","NA","NA","NA","c.725C>T","p.A242V","NA",0.47619,105,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","F11 receptor","CD321, JAM, JAM1, JAMA, JCAM, KAT, PAM-1","Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is an important regulator of tight junction assembly in epithelia. In addition, the encoded protein can act as (1) a receptor for reovirus, (2) a ligand for the integrin LFA1, involved in leukocyte transmigration, and (3) a platelet receptor. Multiple 5' alternatively spliced variants, encoding the same protein, have been identified but their biological validity has not been established. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FAM83D","chr20",37580939,37580939,"NM_030919","G","T","missense","SNM","NA","NA","NA","c.1624G>T","p.G542C","NA",0.697674,86,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 83 member D","C20orf129, CHICA, dJ616B8.3",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FH","chr1",241667492,241667492,"NM_000143","C","A","missense","SNM","NA","NA","NA","c.958G>T","p.A320S","NA",0.313433,134,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fumarate hydratase","FMRD, HLRCC, LRCC, MCL, MCUL1","The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FH","chr1",241682991,241682991,"NM_000143","G","C","missense","SNM","NA","NA","NA","c.32C>G","p.S11W","NA",0.285714,42,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fumarate hydratase","FMRD, HLRCC, LRCC, MCL, MCUL1","The protein encoded by this gene is an enzymatic component of the tricarboxylic acid (TCA) cycle, or Krebs cycle, and catalyzes the formation of L-malate from fumarate. It exists in both a cytosolic form and an N-terminal extended form, differing only in the translation start site used. The N-terminal extended form is targeted to the mitochondrion, where the removal of the extension generates the same form as in the cytoplasm. It is similar to some thermostable class II fumarases and functions as a homotetramer. Mutations in this gene can cause fumarase deficiency and lead to progressive encephalopathy. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FKBP8","chr19",18648490,18648490,"NM_012181","T","C","missense","SNM","NA","NA","NA","c.866A>G","p.Y289C","NA",0.34,200,0,96,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FK506 binding protein 8","FKBP38, FKBPr38","The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FOXK2","chr17",80529720,80529720,"NM_004514","T","C","missense","SNM","NA","NA","NA","c.883T>C","p.Y295H","NA",0.415842,101,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","forkhead box K2","ILF, ILF-1, ILF1","The protein encoded by this gene contains a fork head DNA binding domain. This protein can bind to the purine-rich motifs of the HIV long terminal repeat (LTR), and to the similar purine-rich motif in the interleukin 2 (IL2) promoter. It may be involved in the regulation of viral and cellular promoter elements. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FOXRED2","chr22",36897390,36897390,"NM_001102371","C","A","stopgain","SNM","NA","NA","NA","c.1114G>T","p.E372*","NA",0.414286,140,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FAD dependent oxidoreductase domain containing 2","ERFAD",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FTSJ3","chr17",61902207,61902207,"NM_017647","T","C","missense","SNM","NA","NA","NA","c.794A>G","p.D265G","NA",0.397321,224,0,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FtsJ RNA methyltransferase homolog 3","EPCS3, SPB1","Although the function of this gene is not known, the existence of this gene is supported by mRNA and EST data. A possible function of the encoded protein can be inferred from amino acid sequence similarity to the E.coli FtsJ protein and to a mouse protein possibly involved in embryogenesis. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","GALNT13","chr2",155295155,155295155,"NM_052917","G","C","missense","SNM","NA","NA","NA","c.1447G>C","p.D483H","NA",0.272059,135,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polypeptide N-acetylgalactosaminyltransferase 13","GalNAc-T13","The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","GAPVD1","chr9",128122814,128122814,"NM_015635","T","A","missense","SNM","NA","NA","NA","c.4133T>A","p.L1378H","NA",0.407407,189,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GTPase activating protein and VPS9 domains 1","GAPEX5, GAPex-5, RAP6",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","GULP1","chr2",189458683,189458683,"NM_016315","G","T","missense","SNM","NA","NA","NA","c.860G>T","p.G287V","NA",0.521739,69,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GULP PTB domain containing engulfment adaptor 1","CED-6, CED6, GULP","The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","HEATR5B","chr2",37235974,37235974,"NM_019024","C","A","missense","SNM","NA","NA","NA","c.4302G>T","p.M1434I","NA",0.382143,280,0,156,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HEAT repeat containing 5B",null,null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","HES6","chr2",239147708,239147709,"NM_018645","CA","AG","missense","DNM","NA","NA","NA","c.434_435delinsCT","p.L145P","NA",0.217391,23,0,21,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","hairy and enhancer of split 6","AI326893, bHLHb41",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","HINFP","chr11",119004942,119004942,"NM_015517","G","C","missense","SNM","NA","NA","NA","c.1288G>C","p.E430Q","NA",0.460227,176,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone H4 transcription factor","HiNF-P, MIZF, ZNF743","This gene encodes a transcription factor that interacts with methyl-CpG-binding protein-2 (MBD2), a component of the MeCP1 histone deacetylase (HDAC) complex, and plays a role in DNA methylation and transcription repression. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Aug 2011]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","HNRNPU","chr1",245019824,245019824,"NM_031844","C","A","missense","SNM","NA","NA","NA","c.1847G>T","p.R616I","NA",0.39886,351,0,199,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","heterogeneous nuclear ribonucleoprotein U","EIEE54, GRIP120, HNRNPU-AS1, HNRPU, SAF-A, SAFA, U21.1, hnRNP U, pp120","This gene encodes a member of a family of proteins that bind nucleic acids and function in the formation of ribonucleoprotein complexes in the nucleus with heterogeneous nuclear RNA (hnRNA). The encoded protein has affinity for both RNA and DNA, and binds scaffold-attached region (SAR) DNA. Mutations in this gene have been associated with epileptic encephalopathy, early infantile, 54. A pseudogene of this gene has been identified on chromosome 14. [provided by RefSeq, Jun 2017]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","IMPACT","chr18",22020468,22020468,"NM_018439","G","A","missense","SNM","NA","NA","NA","c.376G>A","p.V126I","NA",0.248408,157,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","impact, RWD domain protein","E430016J11Rik",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","IQCK","chr16",19838424,19838424,"NM_153208","A","C","missense","SNM","NA","NA","NA","c.767A>C","p.Q256P","NA",0.334906,212,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","IQ motif containing K",null,"This gene belongs to the IQ motif-containing family of proteins. The IQ motif serves as a binding site for different EF-hand proteins such as calmodulin. This gene was identified as a potential candidate gene for obsessive-compulsive disorder in a genome-wide association study. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2015]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","KCNH7","chr2",163693214,163693214,"NM_033272","C","G","missense","SNM","NA","NA","NA","c.140G>C","p.G47A","NA",0.405405,110,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","potassium voltage-gated channel subfamily H member 7","ERG3, HERG3, Kv11.3","Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily H. This member is a pore-forming (alpha) subunit. There are at least two alternatively spliced transcript variants derived from this gene and encoding distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","KIAA1211","chr4",57182165,57182165,"NM_020722","C","G","missense","SNM","NA","NA","NA","c.2497C>G","p.P833A","NA",0.377551,97,0,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","KIAA1211",null,null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","KLHL24","chr3",183368788,183368788,"NM_017644","A","T","missense","SNM","NA","NA","NA","c.644A>T","p.Y215F","NA",0.331034,290,0,138,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kelch like family member 24","DRE1, EBSSH, KRIP6","The protein encoded by this gene is a ubiquitin ligase substrate receptor and is regulated by autoubiquitination. Variations in the translation initiation codon of this gene have been found, which result in an N-terminally truncated but more stable protein due to loss of the autoubiquitination function. The more stable mutant protein causes an increased ubiquitin and degradation of keratin 14, which leads to skin fragility and the potentially life-threatening disease epidermolysis bullosa. The encoded protein is also involved in the regulation of kainate receptors. [provided by RefSeq, Mar 2017]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","KPNB1","chr17",45741531,45741531,"NM_002265","A","G","missense","SNM","NA","NA","NA","c.793A>G","p.I265V","NA",0.462687,134,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","karyopherin subunit beta 1","IMB1, IPO1, IPOB, Impnb, NTF97","Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. Interactions between importin beta and the FG repeats of nucleoporins are essential in translocation through the pore complex. The protein encoded by this gene is a member of the importin beta family. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","LAMC1","chr1",183100483,183100483,"NM_002293","T","C","missense","SNM","NA","NA","NA","c.3536T>C","p.L1179S","NA",0.45,120,0,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","laminin, gamma 1","Lamb2",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","LARP4B","chr10",863756,863756,"NM_015155","G","C","missense","SNM","NA","NA","NA","c.1604C>G","p.P535R","NA",0.661017,177,0,162,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","La ribonucleoprotein domain family member 4B","KIAA0217, LARP5","This gene encodes a member of an evolutionarily conserved protein family implicated in RNA metabolism and translation. Members of this family are characterized by the presence of an La motif, which is often located adjacent to one or more RNA recognition motifs (RRM). Together, the two motifs constitute the functional region of the protein and enable its interaction with the RNA substrate. This protein family is divided into five sub-families: the genuine La proteins and four La-related protein (LARP) sub-families. The protein encoded by this gene belongs to LARP sub-family 4. It is a cytoplasmic protein that may play a stimulatory role in translation. [provided by RefSeq, Oct 2012]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","LCAT","chr16",67974223,67974223,"NM_000229","G","C","missense","SNM","NA","NA","NA","c.907C>G","p.Q303E","NA",0.381579,227,0,126,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lecithin-cholesterol acyltransferase",null,"This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","LMTK2","chr7",97823633,97823633,"NM_014916","G","C","missense","SNM","NA","NA","NA","c.3856G>C","p.E1286Q","NA",0.290179,223,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lemur tyrosine kinase 2","AATYK2, BREK, KPI-2, KPI2, LMR2, PPP1R100, cprk, hBREK","The protein encoded by this gene belongs to the protein kinase superfamily and the protein tyrosine kinase family. It contains N-terminal transmembrane helices and a long C-terminal cytoplasmic tail with serine/threonine/tyrosine kinase activity. This protein interacts with several other proteins, such as Inhibitor-2 (Inh2), protein phosphatase-1 (PP1C), p35, and myosin VI. It phosporylates other proteins, and is itself also phosporylated when interacting with cyclin-dependent kinase 5 (cdk5)/p35 complex. This protein involves in nerve growth factor (NGF)-TrkA signalling, and also plays a critical role in endosomal membrane trafficking. Mouse studies suggested an essential role of this protein in spermatogenesis. [provided by RefSeq, Oct 2009]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","LTBP1","chr2",33413913,33413913,"NM_206943","T","C","missense","SNM","NA","NA","NA","c.1696T>C","p.S566P","NA",0.481013,79,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","latent transforming growth factor beta binding protein 1",null,"The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MAP1A","chr15",43819496,43819496,"NM_002373","C","T","missense","SNM","NA","NA","NA","c.5825C>T","p.A1942V","NA",0.313953,85,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","microtubule associated protein 1A","MAP1L, MTAP1A","This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MED12","chrX",70360493,70360493,"NM_005120","A","G","missense","SNM","NA","NA","NA","c.6053A>G","p.H2018R","NA",0.774648,212,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mediator complex subunit 12","ARC240, CAGH45, FGS1, HOPA, MED12S, OHDOX, OKS, OPA1, TNRC11, TRAP230","The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene, mediator complex subunit 12 (MED12), along with MED13, CDK8 kinase, and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome, also known as FG syndrome, and Lujan-Fryns syndrome. [provided by RefSeq, Aug 2009]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MRPS17","chr7",56022772,56022772,"NM_015969","G","T","missense","SNM","NA","NA","NA","c.294G>T","p.K98N","NA",0.380952,105,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitochondrial ribosomal protein S17","HSPC011, MRP-S17, RPMS17, S17mt","Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MTHFD1L","chr6",151198913,151198913,"NM_001242767","G","T","missense","SNM","NA","NA","NA","c.368G>T","p.G123V","NA",0.645669,127,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like","FTHFSDC1, MTC1THFS, dJ292B18.2","The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MYH10","chr17",8439089,8439089,"NM_005964","T","C","missense","SNM","NA","NA","NA","c.1736A>G","p.H579R","NA",0.711864,59,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myosin, heavy polypeptide 10, non-muscle","5730504C04Rik, 9330167F11Rik, Fltn, Myhn-2, Myhn2, NMHC II-B, NMHC-B, NMHCII-B, NMMHC II-b, NMMHC-B, NMMHC-IIB, SMemb, mKIAA3005",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","NOL4","chr18",31537346,31537346,"NM_003787","G","T","missense","SNM","NA","NA","NA","c.1372C>A","p.R458S","NA",0.357143,336,0,178,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nucleolar protein 4","CT125, HRIHFB2255, NOLP",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","OGDH","chr7",44747322,44747322,"NM_002541","G","A","missense","SNM","NA","NA","NA","c.2938G>A","p.A980T","NA",0.390244,82,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","oxoglutarate dehydrogenase","AKGDH, E1k, OGDC","This gene encodes one subunit of the 2-oxoglutarate dehydrogenase complex. This complex catalyzes the overall conversion of 2-oxoglutarate (alpha-ketoglutarate) to succinyl-CoA and CO(2) during the Krebs cycle. The protein is located in the mitochondrial matrix and uses thiamine pyrophosphate as a cofactor. A congenital deficiency in 2-oxoglutarate dehydrogenase activity is believed to lead to hypotonia, metabolic acidosis, and hyperlactatemia. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PANK4","chr1",2450760,2450760,"NM_018216","A","G","missense","SNM","NA","NA","NA","c.857T>C","p.F286S","NA",0.268657,133,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pantothenate kinase 4",null,"This gene encodes a protein belonging to the pantothenate kinase family. Pantothenate kinase is a key regulatory enzyme in the biosynthesis of coenzyme A (CoA) in bacteria and mammalian cells. It catalyzes the first committed step in the universal biosynthetic pathway leading to CoA and is itself subject to regulation through feedback inhibition by CoA. This family member is most abundant in muscle but is expressed in all tissues. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PAPD7","chr5",6753061,6753061,"NM_006999","G","A","missense","SNM","NA","NA","NA","c.1345G>A","p.A449T","NA",0.307692,298,0,121,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","poly(A) RNA polymerase D7, non-canonical","POLS",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PCDH10","chr4",134071743,134071743,"NM_032961","G","A","missense","SNM","NA","NA","NA","c.448G>A","p.D150N","NA",0.384615,64,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protocadherin 10","OL-PCDH, PCDH19","This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. This family member contains 6 extracellular cadherin domains, a transmembrane domain and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein is a cadherin-related neuronal receptor thought to function in the establishment of specific cell-cell connections in the brain. This gene plays a role in inhibiting cancer cell motility and cell migration. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PDZD4","chrX",153072740,153072740,"NM_032512","C","A","missense","SNM","NA","NA","NA","c.381G>T","p.E127D","NA",0.666667,78,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PDZ domain containing 4","LNX5, LU1, PDZK4, PDZRN4L",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PLK1","chr16",23691508,23691508,"NM_005030","G","T","missense","SNM","NA","NA","NA","c.512G>T","p.R171L","NA",0.366255,243,0,138,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polo like kinase 1","PLK, STPK13","The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SEMA4D","chr9",91996218,91996218,"NM_006378","T","C","missense","SNM","NA","NA","NA","c.1490A>G","p.Q497R","NA",0.294737,190,0,131,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","semaphorin 4D","C9orf164, CD100, COLL4, M-sema-G, SEMAJ, coll-4",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TAB3","chrX",30872457,30872457,"NM_152787","G","A","missense","SNM","NA","NA","NA","c.1325C>T","p.S442L","NA",0.77439,164,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TGF-beta activated kinase 1 (MAP3K7) binding protein 3","MAP3K7IP3, NAP1","The product of this gene functions in the NF-kappaB signal transduction pathway. The encoded protein, and the similar and functionally redundant protein MAP3K7IP2/TAB2, forms a ternary complex with the protein kinase MAP3K7/TAK1 and either TRAF2 or TRAF6 in response to stimulation with the pro-inflammatory cytokines TNF or IL-1. Subsequent MAP3K7/TAK1 kinase activity triggers a signaling cascade leading to activation of the NF-kappaB transcription factor. The human genome contains a related pseudogene. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TEX2","chr17",62290809,62290809,"NM_018469","C","T","missense","SNM","NA","NA","NA","c.769G>A","p.G257S","NA",0.313793,290,0,125,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","testis expressed gene 2","4930568E07Rik, AI553404, Def-5, Taz4",null,"NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TUSC3","chr8",15605954,15605954,"NM_006765","G","C","missense","SNM","NA","NA","NA","c.1008G>C","p.K336N","NA",0.544643,112,0,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tumor suppressor candidate 3","D8S1992, M33, MRT22, MRT7, MagT2, N33, OST3A","This gene encodes a protein that has been associated with several biological functions including cellular magnesium uptake, protein glycosylation and embryonic development. This protein localizes to the endoplasmic reticulum and acts as a component of the oligosaccharyl transferase complex which is responsible for N-linked protein glycosylation. This gene is a candidate tumor suppressor gene. Homozygous mutations in this gene are associated with autosomal recessive nonsyndromic mental retardation-7 and in the proliferation and invasiveness of several cancers including metastatic pancreatic cancer, ovarian cancer and glioblastoma multiform. [provided by RefSeq, Oct 2017]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","XPOT","chr12",64818879,64818879,"NM_007235","G","T","missense","SNM","NA","NA","NA","c.1369G>T","p.A457S","NA",0.353846,65,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exportin for tRNA","XPO3","This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm. Translocation of tRNA to the cytoplasm occurs once exportin has bound both tRNA and GTP-bound RAN. [provided by RefSeq, Jul 2008]","NA"]
["S00710","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ZNF445","chr3",44491095,44491095,"NM_181489","C","A","missense","SNM","NA","NA","NA","c.841G>T","p.A281S","NA",0.6,140,0,133,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 445","ZKSCAN15, ZNF168, ZSCAN47",null,"NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","ANKHD1-EIF4EBP3","chr5",139884543,139884543,"NM_020690","G","A","missense","SNM","NA","NA","NA","c.3142G>A","p.D1048N","NA",0.529412,50,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ANKHD1-EIF4EBP3 readthrough","MASK-BP3, MASK-BP3ARF","The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]","NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","ELMOD2","chr4",141464676,141464676,"NM_153702","G","C","missense","SNM","NA","NA","NA","c.672G>C","p.L224F","NA",0.4,50,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ELMO domain containing 2","9830169G11Rik","This gene encodes one of six engulfment and motility (ELMO) domain-containing proteins. This gene is thought to play a role in antiviral responses. Mutations in this gene may be involved in the cause of familial idiopathic pulmonary fibrosis. [provided by RefSeq, Sep 2010]","NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","KEAP1","chr19",10597395,10597395,"NM_012289","C","A","missense","SNM","NA","NA","NA","c.1808G>T","p.G603V","NA",0.4,60,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","kelch like ECH associated protein 1","INrf2, KLHL19","This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","LONRF3","chrX",118123414,118123414,"NM_001031855","C","G","missense","SNM","NA","NA","NA","c.1103C>G","p.A368G","NA",0.723404,47,0,15,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","LON peptidase N-terminal domain and ring finger 3","RNF127","The protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein-protein and protein-DNA interactions. Multiple alternatively spliced transcript variants have been suggested, but their full length natures are not clear. [provided by RefSeq, Jul 2008]","NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","PGBD2","chr1",249212442,249212442,"NM_170725","G","A","stopgain","SNM","NA","NA","NA","c.1659G>A","p.W553*","NA",0.335766,137,0,96,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","piggyBac transposable element derived 2",null,"The piggyBac family of proteins, found in diverse animals, are transposases related to the transposase of the canonical piggyBac transposon from the moth, Trichoplusia ni. This family also includes genes in several genomes, including human, that appear to have been derived from the piggyBac transposons. This gene belongs to the subfamily of piggyBac transposable element derived (PGBD) genes. The PGBD proteins appear to be novel, with no obvious relationship to other transposases, or other known protein families. The exact function of this gene is not known. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","RPL4","chr15",66793402,66793402,"NM_000968","G","A","missense","SNM","NA","NA","NA","c.718C>T","p.L240F","NA",0.283019,53,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ribosomal protein L4","L4","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L4E family of ribosomal proteins. It is located in the cytoplasm. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","TEFM","chr17",29231348,29231348,"NM_024683","C","A","missense","SNM","NA","NA","NA","c.231G>T","p.L77F","NA",0.338235,68,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transcription elongation factor, mitochondrial","C17orf42",null,"NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","UBC","chr12",125397122,125397122,"NM_021009","G","A","missense","SNM","NA","NA","NA","c.1196C>T","p.P399L","NA",0.414716,298,0,194,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin C","HMG20","This gene represents a ubiquitin gene, ubiquitin C. The encoded protein is a polyubiquitin precursor. Conjugation of ubiquitin monomers or polymers can lead to various effects within a cell, depending on the residues to which ubiquitin is conjugated. Ubiquitination has been associated with protein degradation, DNA repair, cell cycle regulation, kinase modification, endocytosis, and regulation of other cell signaling pathways. [provided by RefSeq, Aug 2010]","NA"]
["S00711","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF518B","chr4",10444975,10444975,"NM_053042","G","C","missense","SNM","NA","NA","NA","c.2978C>G","p.T993S","NA",0.300752,133,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 518B",null,null,"NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","BRAF","chr7",140481402,140481402,"NM_004333","C","A","missense","SNM","NA","NA","NA","c.1406G>T","p.G469V","NA",0.225,40,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","B-Raf proto-oncogene, serine/threonine kinase","B-RAF1, B-raf, BRAF1, NS7, RAFB1","This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]","NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDC","chr7",50611764,50611764,"NM_000790","C","A","missense","SNM","NA","NA","NA","c.20G>T","p.R7L","NA",0.385787,197,0,163,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Dopa decarboxylase","Dmel_CG10697, 5-HT, AADC, CG10697, DDC, DdcDm, Dmel\\CG10697, ddc, fDDC, l(2)37Bl, l(2)37Ch, l(2)k02104",null,"NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","GEN1","chr2",17963118,17963118,"NM_182625","G","T","missense","SNM","NA","NA","NA","c.2639G>T","p.C880F","NA",0.333333,21,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GEN1, Holliday junction 5' flap endonuclease","Gen","This gene encodes a member of the Rad2/xeroderma pigmentosum group G nuclease family, whose members are characterized by N-terminal and internal xeroderma pigmentosum group G nuclease domains followed by helix-hairpin-helix domains and disordered C-terminal domains. The protein encoded by this gene is involved in resolution of Holliday junctions, which are intermediate four-way structures that covalently link DNA during homologous recombination and double-strand break repair. The protein resolves Holliday junctions by creating dual incisions across the junction to produce nicked duplex products that can be ligated. In addition, this protein has been found to localize to centrosomes where it has been implicated in regulation of centrosome integrity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]","NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","HS6ST1","chr2",129026251,129026251,"NM_004807","A","G","missense","SNM","NA","NA","NA","c.721T>C","p.C241R","NA",0.294118,85,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","heparan sulfate 6-O-sulfotransferase 1","6Ost1",null,"NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","NCS1","chr9",132984930,132984930,"NM_014286","G","T","missense","SNM","NA","NA","NA","c.309G>T","p.W103C","NA",0.367568,185,0,129,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","neuronal calcium sensor 1","FLUP, FREQ","This gene is a member of the neuronal calcium sensor gene family, which encode calcium-binding proteins expressed predominantly in neurons. The protein encoded by this gene regulates G protein-coupled receptor phosphorylation in a calcium-dependent manner and can substitute for calmodulin. The protein is associated with secretory granules and modulates synaptic transmission and synaptic plasticity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDE3B","chr11",14856563,14856563,"NM_000922","G","T","missense","SNM","NA","NA","NA","c.2242G>T","p.A748S","NA",0.350877,114,0.0327869,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphodiesterase 3B, cGMP-inhibited","9830102A01Rik, AI847709",null,"NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLK1","chr16",23701304,23701304,"NM_005030","A","T","missense","SNM","NA","NA","NA","c.1732A>T","p.S578C","NA",0.29703,101,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polo like kinase 1","PLK, STPK13","The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]","NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","SETD4","chr21",37420643,37420643,"NM_017438","T","A","missense","SNM","NA","NA","NA","c.259A>T","p.T87S","NA",0.597826,92,0,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SET domain containing 4","AY037804, C21orf18, ORF21",null,"NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","ST18","chr8",53077743,53077743,"NM_014682","C","A","missense","SNM","NA","NA","NA","c.1247G>T","p.G416V","NA",0.446154,194,0,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ST18, C2H2C-type zinc finger","NZF3, ZC2H2C3, ZC2HC10, ZNF387",null,"NA"]
["S00713","LCNEC","NA","LCNEC","yes","NA","NA","NA","TOMM40L","chr1",161198592,161198592,"NM_032174","A","T","missense","SNM","NA","NA","NA","c.772A>T","p.N258Y","NA",0.436709,158,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","translocase of outer mitochondrial membrane 40 like","TOMM40B",null,"NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","ASPM","chr1",197071776,197071776,"NM_018136","C","A","missense","SNM","NA","NA","NA","c.6605G>T","p.R2202I","NA",0.681416,113,0.0175439,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","abnormal spindle microtubule assembly","ASP, Calmbp1, MCPH5","This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","CAMSAP2","chr1",200817894,200817894,"NM_203459","G","A","missense","SNM","NA","NA","NA","c.1997G>A","p.S666N","NA",0.731343,67,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","calmodulin regulated spectrin associated protein family member 2","CAMSAP1L1",null,"NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","EIF2C1","chr1",36359981,36359981,"NM_012199","C","A","missense","SNM","NA","NA","NA","c.850C>A","p.R284S","NA",0.146341,246,0.00904977,221,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation initiation factor 2C, 1","Ago1",null,"NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","FBLN1","chr22",45923830,45923830,"NM_006486","C","T","missense","SNM","NA","NA","NA","c.425C>T","p.A142V","NA",0.258621,58,0.0169492,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fibulin 1","FBLN, FIBL1","Fibulin 1 is a secreted glycoprotein that becomes incorporated into a fibrillar extracellular matrix. Calcium-binding is apparently required to mediate its binding to laminin and nidogen. It mediates platelet adhesion via binding fibrinogen. Four splice variants which differ in the 3' end have been identified. Each variant encodes a different isoform, but no functional distinctions have been identified among the four variants. [provided by RefSeq, Jul 2008]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","HELZ","chr17",65105582,65105582,"NM_014877","A","G","missense","SNM","NA","NA","NA","c.4139T>C","p.L1380S","NA",0.181538,324,0,235,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","helicase with zinc finger","DHRC, DRHC, HUMORF5","HELZ is a member of the superfamily I class of RNA helicases. RNA helicases alter the conformation of RNA by unwinding double-stranded regions, thereby altering the biologic activity of the RNA molecule and regulating access to other proteins (Wagner et al., 1999 [PubMed 10471385]).[supplied by OMIM, Mar 2008]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","ITPKC","chr19",41239136,41239136,"NM_025194","T","C","missense","SNM","NA","NA","NA","c.1541T>C","p.M514T","NA",0.31405,121,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","inositol-trisphosphate 3-kinase C","IP3-3KC, IP3KC","This gene encodes a member of the inositol 1,4,5-trisphosphate [Ins(1,4,5)P(3)] 3-kinase family of enzymes that catalyze the phosphorylation of inositol 1,4,5-trisphosphate to 1,3,4,5-tetrakisphosphate. The encoded protein is localized to the nucleus and cytoplasm and has both nuclear import and nuclear export activity. Single nucleotide polymorphisms in this gene are associated with Kawasaki disease.[provided by RefSeq, Sep 2009]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","MARVELD2","chr5",68716009,68716009,"NM_001038603","C","T","missense","SNM","NA","NA","NA","c.797C>T","p.T266I","NA",0.319392,263,0.0182648,219,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MARVEL domain containing 2","DFNB49, MARVD2, MRVLDC2, Tric","The protein encoded by this gene is a membrane protein found at the tight junctions between epithelial cells. The encoded protein helps establish epithelial barriers such as those in the organ of Corti, where these barriers are required for normal hearing. Defects in this gene are a cause of deafness autosomal recessive type 49 (DFNB49). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","PICALM","chr11",85692174,85692174,"NM_007166","T","C","missense","SNM","NA","NA","NA","c.1777A>G","p.M593V","NA",0.522936,109,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol binding clathrin assembly protein","CALM, CLTH, LAP","This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","RANBP3","chr19",5925715,5925715,"NM_007322","C","T","missense","SNM","NA","NA","NA","c.847G>A","p.E283K","NA",0.143939,132,0.010989,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAN binding protein 3",null,"This gene encodes a protein with a RanBD1 domain that is found in both the nucleus and cytoplasm. This protein plays a role in nuclear export as part of a heteromeric complex. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC16A10","chr6",111498456,111498456,"NM_018593","C","T","missense","SNM","NA","NA","NA","c.530C>T","p.A177V","NA",0.491228,114,0.0140845,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 16 member 10","MCT10, PRO0813, TAT1","SLC16A10 is a member of a family of plasma membrane amino acid transporters that mediate the Na(+)-independent transport of aromatic amino acids across the plasma membrane.[supplied by OMIM, Apr 2004]","NA"]
["S00714","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF417","chr19",58420055,58420055,"NM_152475","C","A","stopgain","SNM","NA","NA","NA","c.1591G>T","p.E531*","NA",0.404762,210,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 417",null,null,"NA"]
["S00718","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578461,7578462,"NM_000546","CG","AT","missense","DNM","NA","NA","NA","c.468_469delinsAT","p.V157F","NA",0.77489,191,0.00378788,131,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTS12","chr5",33576838,33576838,"NM_030955","C","A","missense","SNM","NA","NA","NA","c.3293G>T","p.S1098I","NA",0.186047,344,0,140,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 12","PRO4389","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","CADPS","chr3",62463943,62463943,"NM_003716","C","A","missense","SNM","NA","NA","NA","c.3322G>T","p.V1108F","NA",0.774194,186,0,185,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Ca2+-dependent secretion activator","AU067781, CAPS, CAPS1, mKIAA1121",null,"NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","KDM4C","chr9",6793133,6793133,"NM_015061","G","A","splicing","SNM","NA","NA","NA","c.144_splice","e1+1","NA",0.588235,17,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine demethylase 4C","GASC1, JHDM3C, JMJD2C, TDRD14C","This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation. Chromosomal aberrations and changes in expression of this gene may be found in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]","Demeth"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAP3K11","chr11",65380987,65380987,"NM_002419","C","A","stopgain","SNM","NA","NA","NA","c.241G>T","p.E81*","NA",0.381818,55,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase kinase kinase 11","MEKK11, MLK-3, MLK3, PTK1, SPRK","The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase contains a SH3 domain and a leucine zipper-basic motif. This kinase preferentially activates MAPK8/JNK kinase, and functions as a positive regulator of JNK signaling pathway. This kinase can directly phosphorylate, and activates IkappaB kinase alpha and beta, and is found to be involved in the transcription activity of NF-kappaB mediated by Rho family GTPases and CDC42. [provided by RefSeq, Jul 2008]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","POLR2C","chr16",57504967,57504967,"NM_032940","A","C","missense","SNM","NA","NA","NA","c.764A>C","p.K255T","NA",0.258065,186,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA polymerase II subunit C","RPB3, RPB31, hRPB33, hsRPB3","This gene encodes the third largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a cysteine rich region and exists as a heterodimer with another polymerase subunit, POLR2J. These two subunits form a core subassembly unit of the polymerase. A pseudogene has been identified on chromosome 21. [provided by RefSeq, Jul 2008]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAB11FIP4","chr17",29850917,29850917,"NM_032932","T","G","missense","SNM","NA","NA","NA","c.1036T>G","p.F346V","NA",0.608333,120,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAB11 family interacting protein 4","FIP4-Rab11, RAB11-FIP4","The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","SEZ6L2","chr16",29884655,29884655,"NM_001243332","G","C","missense","SNM","NA","NA","NA","c.2394C>G","p.F798L","NA",0.371981,207,0,121,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","seizure related 6 homolog like 2","BSRPA, PSK-1","This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPTBN1","chr2",54886327,54886327,"NM_003128","G","A","missense","SNM","NA","NA","NA","c.6280G>A","p.E2094K","NA",0.351648,90,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","spectrin beta, non-erythrocytic 1","ELF, HEL102, SPTB2, betaSpII","Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRAM1","chr8",71496021,71496021,"NM_014294","G","T","missense","SNM","NA","NA","NA","c.754C>A","p.L252M","NA",0.221053,95,0.0344828,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","translocation associated membrane protein 1","PNAS8, TRAM, TRAMP","This gene encodes a multi-pass membrane protein that is part of the mammalian endoplasmic reticulum. The encoded protein influences glycosylation and facilitates the translocation of secretory proteins across the endoplasmic reticulum membrane by regulating which domains of the nascent polypeptide chain are visible to the cytosol during a translocational pause. [provided by RefSeq, Oct 2009]","NA"]
["S00725","LCNEC","NA","LCNEC","yes","NA","NA","NA","UACA","chr15",70961222,70961222,"NM_018003","C","T","missense","SNM","NA","NA","NA","c.1801G>A","p.E601K","NA",0.345912,159,0,114,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","uveal autoantigen with coiled-coil domains and ankyrin repeats","NUCLING","This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ALDH3B2","chr11",67431141,67431141,"NM_000695","C","T","missense","SNM","NA","NA","NA","c.965G>A","p.G322E","NA",0.44375,160,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aldehyde dehydrogenase 3 family member B2","ALDH8","This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ATE1","chr10",123503371,123503371,"NM_007041","C","T","missense","SNM","NA","NA","NA","c.1381G>A","p.D461N","NA",0.40678,118,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","arginyltransferase 1","AI225793, AW547406",null,"NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","DENND1A","chr9",126439022,126439022,"NM_020946","C","T","missense","SNM","NA","NA","NA","c.349G>A","p.A117T","NA",0.851064,94,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DENN domain containing 1A","FAM31A, KIAA1608","Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010 [PubMed 20154091]).[supplied by OMIM, Nov 2010]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","DHX57","chr2",39082252,39082252,"NM_198963","C","T","missense","SNM","NA","NA","NA","c.1852G>A","p.A618T","NA",0.435374,147,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DExH-box helicase 57","DDX57",null,"NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","LSR","chr19",35758726,35758726,"NM_205834","G","A","splicing","SNM","NA","NA","NA","c.1915_splice","e10-1","NA",0.385185,134,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lipolysis stimulated lipoprotein receptor","ILDR3, LISCH7",null,"NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","NFE2L2","chr2",178098953,178098953,"NM_006164","C","A","missense","SNM","NA","NA","NA","c.92G>T","p.G31V","NA",0.455696,157,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear factor, erythroid 2 like 2","HEBP1, IMDDHH, NRF2","This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","NUCKS1","chr1",205687418,205687418,"NM_022731","C","A","missense","SNM","NA","NA","NA","c.722G>T","p.G241V","NA",0.561644,73,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear casein kinase and cyclin dependent kinase substrate 1","JC7, NUCKS","This gene encodes a nuclear protein that is highly conserved in vertebrates. The conserved regions of the protein contain several consensus phosphorylation sites for casein kinase II and cyclin-dependent kinases, two putative nuclear localization signals, and a basic DNA-binding domain. It is phosphorylated in vivo by Cdk1 during mitosis of the cell cycle. [provided by RefSeq, Aug 2010]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","RASAL1","chr12",113565671,113565671,"NM_001193520","C","T","missense","SNM","NA","NA","NA","c.244G>A","p.D82N","NA",0.378151,119,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAS protein activator like 1","RASAL","The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. This particular family member contains domains which are characteristic of the GAP1 subfamily of RasGAP proteins but, in contrast to the other GAP1 family members, this protein is strongly and selectively expressed in endocrine tissues. Alternatively spliced transcript variants that encode different isoforms have been described [provided by RefSeq, Jul 2010]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","SECISBP2L","chr15",49327803,49327803,"NM_001193489","G","C","missense","SNM","NA","NA","NA","c.256C>G","p.P86A","NA",0.527273,55,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SECIS binding protein 2 like","SBP2L, SLAN",null,"NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","VCAM1","chr1",101200217,101200217,"NM_001078","G","A","missense","SNM","NA","NA","NA","c.1952G>A","p.G651D","NA",0.804878,41,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","vascular cell adhesion molecule 1","CD106, INCAM-100","This gene is a member of the Ig superfamily and encodes a cell surface sialoglycoprotein expressed by cytokine-activated endothelium. This type I membrane protein mediates leukocyte-endothelial cell adhesion and signal transduction, and may play a role in the development of artherosclerosis and rheumatoid arthritis. Three alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Dec 2010]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ZNF462","chr9",109685737,109685737,"NM_021224","G","T","missense","SNM","NA","NA","NA","c.73G>T","p.D25Y","NA",0.811388,281,0.00943396,212,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 462","Zfp462","The protein encoded by this gene belongs to C2H2-type zinc finger family of proteins. It contains multiple C2H2-type zinc fingers and may be involved in transcriptional regulation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]","NA"]
["S00732","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ZNF574","chr19",42585133,42585133,"NM_022752","G","A","missense","SNM","NA","NA","NA","c.2375G>A","p.R792Q","NA",0.36036,111,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 574","FP972",null,"NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP6V0D1","chr16",67514985,67514985,"NM_004691","G","A","missense","SNM","NA","NA","NA","c.5C>T","p.S2L","NA",0.352273,175,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase H+ transporting V0 subunit d1","ATP6D, ATP6DV, P39, VATX, VMA6, VPATPD","This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A and three B subunits, two G subunits plus the C, D, E, F, and H subunits. The V1 domain contains the ATP catalytic site. The V0 domain consists of five different subunits: a, c, c', c'', and d. Additional isoforms of many of the V1 and V0 subunit proteins are encoded by multiple genes or alternatively spliced transcript variants. This encoded protein is known as the D subunit and is found ubiquitously. [provided by RefSeq, Jul 2008]","NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","CREBBP","chr16",3807916,3807916,"NM_004380","T","C","missense","SNM","NA","NA","NA","c.3503A>G","p.N1168S","NA",0.356808,213,0.0135135,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","CREB binding protein","CBP, KAT3A, RSTS, RSTS1","This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]","NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","EIF3F","chr11",8013385,8013385,"NM_003754","A","T","missense","SNM","NA","NA","NA","c.422A>T","p.E141V","NA",0.32967,91,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation initiation factor 3 subunit F","EIF3S5, eIF3-p47",null,"NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","GCAT","chr22",38211176,38211176,"NM_001171690","T","C","missense","SNM","NA","NA","NA","c.698T>C","p.M233T","NA",0.802548,157,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glycine C-acetyltransferase (2-amino-3-ketobutyrate-coenzyme A ligase)","AI526977, Kbl",null,"NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","LAMB3","chr1",209799266,209799266,"NM_000228","T","A","missense","SNM","NA","NA","NA","c.1703A>T","p.Q568L","NA",0.552632,114,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","laminin subunit beta 3","AI1A, BM600-125KDA, LAM5, LAMNB1","The product encoded by this gene is a laminin that belongs to a family of basement membrane proteins. This protein is a beta subunit laminin, which together with an alpha and a gamma subunit, forms laminin-5. Mutations in this gene cause epidermolysis bullosa junctional Herlitz type, and generalized atrophic benign epidermolysis bullosa, diseases that are characterized by blistering of the skin. Multiple alternatively spliced transcript variants that encode the same protein have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","MBTPS1","chr16",84132899,84132899,"NM_003791","G","T","missense","SNM","NA","NA","NA","c.180C>A","p.F60L","NA",0.362069,58,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","membrane bound transcription factor peptidase, site 1","PCSK8, S1P, SKI-1","This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the cis/medial-Golgi where a second autocatalytic event takes place and the catalytic activity is acquired. It encodes a type 1 membrane bound protease which is ubiquitously expressed and regulates cholesterol or lipid homeostasis via cleavage of substrates at non-basic residues. Mutations in this gene may be associated with lysosomal dysfunction. [provided by RefSeq, Feb 2014]","NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","PHF20L1","chr8",133855010,133855010,"NM_016018","G","T","missense","SNM","NA","NA","NA","c.2638G>T","p.G880W","NA",0.387755,49,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PHD finger protein 20 like 1","CGI-72, TDRD20B, URLC1",null,"NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","PI4KA","chr22",21150477,21150477,"NM_058004","T","G","missense","SNM","NA","NA","NA","c.2234A>C","p.K745T","NA",0.684211,171,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol 4-kinase alpha","PI4K-ALPHA, PIK4CA, PMGYCHA, pi4K230","This gene encodes a phosphatidylinositol (PI) 4-kinase which catalyzes the first committed step in the biosynthesis of phosphatidylinositol 4,5-bisphosphate. The mammalian PI 4-kinases have been classified into two types, II and III, based on their molecular mass, and modulation by detergent and adenosine. The protein encoded by this gene is a type III enzyme that is not inhibited by adenosine. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2018]","NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","SNX9","chr6",158317991,158317991,"NM_016224","G","C","missense","SNM","NA","NA","NA","c.433G>C","p.D145H","NA",0.206897,58,0,18,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sorting nexin 9","SDP1, SH3PX1, SH3PXD3A, WISP","This gene encodes a member of the sorting nexin family. Members of this family contain a phosphoinositide binding domain, and are involved in intracellular trafficking. The encoded protein does not contain a coiled coil region, like some family members, but does contain a SRC homology domain near its N-terminus. The encoded protein is reported to have a variety of interaction partners, including of adaptor protein 2 , dynamin, tyrosine kinase non-receptor 2, Wiskott-Aldrich syndrome-like, and ARP3 actin-related protein 3. The encoded protein is implicated in several stages of intracellular trafficking, including endocytosis, macropinocytosis, and F-actin nucleation. [provided by RefSeq, Jul 2013]","NA"]
["S00733","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578226,7578226,"NM_000546","T","A","missense","SNM","NA","NA","NA","c.623A>T","p.D208V","NA",0.742424,264,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","AATF","chr17",35311174,35311174,"NM_012138","G","T","missense","SNM","NA","NA","NA","c.799G>T","p.G267C","NA",0.321839,87,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","apoptosis antagonizing transcription factor","BFR2, CHE-1, CHE1, DED","The protein encoded by this gene was identified on the basis of its interaction with MAP3K12/DLK, a protein kinase known to be involved in the induction of cell apoptosis. This gene product contains a leucine zipper, which is a characteristic motif of transcription factors, and was shown to exhibit strong transactivation activity when fused to Gal4 DNA binding domain. Overexpression of this gene interfered with MAP3K12 induced apoptosis. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ABCC10","chr6",43414019,43414019,"NM_001198934","G","C","missense","SNM","NA","NA","NA","c.3379G>C","p.E1127Q","NA",0.31746,125,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP binding cassette subfamily C member 10","EST182763, MRP7, SIMRP7","The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This ABC full-transporter is a member of the MRP subfamily which is involved in multi-drug resistance. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2010]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ADCY5","chr3",123010124,123010124,"NM_183357","G","T","missense","SNM","NA","NA","NA","c.3163C>A","p.R1055S","NA",0.222222,117,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adenylate cyclase 5","AC5, FDFM","This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","AP4B1","chr1",114442813,114442813,"NM_006594","C","A","missense","SNM","NA","NA","NA","c.827G>T","p.R276L","NA",0.322835,127,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adaptor related protein complex 4 subunit beta 1","BETA-4, CPSQ5, SPG47","This gene encodes a subunit of a heterotetrameric adapter-like complex 4 that is involved in targeting proteins from the trans-Golgi network to the endosomal-lysosomal system. Mutations in this gene are associated with cerebral palsy spastic quadriplegic type 5 (CPSQ5) disorder. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ASPM","chr1",197070795,197070795,"NM_018136","C","A","missense","SNM","NA","NA","NA","c.7586G>T","p.R2529I","NA",0.295455,44,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","abnormal spindle microtubule assembly","ASP, Calmbp1, MCPH5","This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ATP9A","chr20",50329552,50329552,"NM_006045","C","G","missense","SNM","NA","NA","NA","c.389G>C","p.R130P","NA",0.25,171,0,131,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase phospholipid transporting 9A (putative)","ATPIIA",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","BICD2","chr9",95481539,95481539,"NM_001003800","C","A","missense","SNM","NA","NA","NA","c.1388G>T","p.R463L","NA",0.331967,244,0,165,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","BICD cargo adaptor 2","SMALED2, bA526D8.1","This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","BRD3","chr9",136915597,136915597,"NM_007371","T","C","missense","SNM","NA","NA","NA","c.613A>G","p.T205A","NA",0.276923,130,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bromodomain containing 3","ORFX, RING3L","This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C14orf101","chr14",57114140,57114140,"NM_017799","G","T","missense","SNM","NA","NA","NA","c.2049G>T","p.Q683H","NA",0.202532,79,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 260","C14orf101, SHDRA",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C19orf10","chr19",4658073,4658073,"NM_019107","T","A","stopgain","SNM","NA","NA","NA","c.466A>T","p.K156*","NA",0.269231,78,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myeloid derived growth factor","C19orf10, EUROIMAGE1875335, IL25, IL27, IL27w, R33729_1, SF20","The protein encoded by this gene was previously thought to support proliferation of lymphoid cells and was considered an interleukin. However, this activity has not been reproducible and the function of this protein is currently unknown. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","C9orf93","chr9",15744727,15744727,"NM_173550","G","C","missense","SNM","NA","NA","NA","c.2506G>C","p.G836R","NA",0.407407,54,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","coiled-coil domain containing 171","C9orf93, bA536D16.1, bA778P13.1",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CD109","chr6",74519838,74519839,"NM_133493","CC","AA","missense","DNM","NA","NA","NA","c.3487_3488delinsAA","p.P1163K","NA",0.399924,72,0,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CD109 molecule","CPAMD7, p180, r150","This gene encodes a glycosyl phosphatidylinositol (GPI)-linked glycoprotein that localizes to the surface of platelets, activated T-cells, and endothelial cells. The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CHN2","chr7",29440294,29440294,"NM_004067","G","T","missense","SNM","NA","NA","NA","c.426G>T","p.E142D","NA",0.238095,105,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chimerin 2","ARHGAP3, BCH, CHN2-3, RHOGAP3","This gene encodes a guanosine triphosphate (GTP)-metabolizing protein that contains a phorbol-ester/diacylglycerol (DAG)-type zinc finger, a Rho-GAP domain, and an SH2 domain. The encoded protein translocates from the cytosol to the Golgi apparatus membrane upon binding by diacylglycerol (DAG). Activity of this protein is important in cell proliferation and migration, and expression changes in this gene have been detected in cancers. A mutation in this gene has also been associated with schizophrenia in men. Alternative transcript splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, May 2014]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CLMN","chr14",95679604,95679604,"NM_024734","C","A","missense","SNM","NA","NA","NA","c.560G>T","p.R187M","NA",0.229885,348,0,148,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","calmin",null,null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CNOT1","chr16",58566275,58566275,"NM_016284","G","C","missense","SNM","NA","NA","NA","c.5920C>G","p.L1974V","NA",0.46875,64,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CCR4-NOT transcription complex subunit 1","AD-005, CDC39, NOT1, NOT1H",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CPE","chr4",166408728,166408728,"NM_001873","A","T","missense","SNM","NA","NA","NA","c.1112A>T","p.Q371L","NA",0.535211,71,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","carboxypeptidase E","CPH, Cph-1, Cph1, NF-alpha1, R74677, fat","This gene encodes carboxypeptidase E, a prohormone-processing exopeptidase found in secretory granules of endocrine and neuroendocrine cells. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional enzyme that cleaves the C-terminal basic residues of protein substrates. A missense mutation in this gene is responsible for the obesity phenotype in a mouse model known as the \"fat mouse.\" Mice lacking the functional product of this gene exhibit impaired processing of multiple peptide hormones such as proinsulin, prodynorphin, proneurotensin, promelanin-concentrating hormone and pro-opiomelanocortin. [provided by RefSeq, Jan 2016]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","DYNC1H1","chr14",102452730,102452730,"NM_001376","C","T","missense","SNM","NA","NA","NA","c.2168C>T","p.T723I","NA",0.466667,165,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dynein cytoplasmic 1 heavy chain 1","CMT2O, DHC1, DHC1a, DNCH1, DNCL, DNECL, DYHC, Dnchc1, HL-3, SMALED1, p22","Dyneins are a group of microtubule-activated ATPases that function as molecular motors. They are divided into two subgroups of axonemal and cytoplasmic dyneins. The cytoplasmic dyneins function in intracellular motility, including retrograde axonal transport, protein sorting, organelle movement, and spindle dynamics. Molecules of conventional cytoplasmic dynein are comprised of 2 heavy chain polypeptides and a number of intermediate and light chains.This gene encodes a member of the cytoplasmic dynein heavy chain family. [provided by RefSeq, Oct 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ENTPD3","chr3",40442416,40442416,"NM_001248","G","C","missense","SNM","NA","NA","NA","c.200G>C","p.R67T","NA",0.515625,128,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ectonucleoside triphosphate diphosphohydrolase 3","CD39L3, HB6, NTPDase-3","This gene encodes a plasma membrane-bound divalent cation-dependent E-type nucleotidase. The encoded protein is involved in the regulation of extracellular levels of ATP by hydrolysis of it and other nucleotides. Multiple transcript variants have been described. [provided by RefSeq, May 2014]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","EPG5","chr18",43502410,43502410,"NM_020964","C","A","missense","SNM","NA","NA","NA","c.2995G>T","p.D999Y","NA",0.214634,205,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ectopic P-granules autophagy protein 5 homolog","HEEW1, KIAA1632, VICIS","This gene encodes a large coiled coil domain-containing protein that functions in autophagy during starvation conditions. Mutations in this gene cause Vici syndrome. [provided by RefSeq, Aug 2015]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","GAA","chr17",78092122,78092122,"NM_000152","G","T","missense","SNM","NA","NA","NA","c.2612G>T","p.G871V","NA",0.318182,131,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glucosidase alpha, acid","LYAG","This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","GPR110","chr6",46977663,46977663,"NM_153840","C","A","missense","SNM","NA","NA","NA","c.1508G>T","p.G503V","NA",0.349206,63,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adhesion G protein-coupled receptor F1","5031409J19Rik, Gpr110, KPG_009",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","GSN","chr9",124083615,124083615,"NM_000177","G","T","missense","SNM","NA","NA","NA","c.1414G>T","p.D472Y","NA",0.368421,114,0.0119048,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","gelsolin","ADF, AGEL","The protein encoded by this gene binds to the \"plus\" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","GUCY1A3","chr4",156632131,156632131,"NM_001130682","C","T","stopgain","SNM","NA","NA","NA","c.814C>T","p.Q272*","NA",0.493506,77,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","guanylate cyclase 1, soluble, alpha 3",null,null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","HSD3B7","chr16",30996980,30996980,"NM_025193","A","G","missense","SNM","NA","NA","NA","c.1A>G","p.M1V","NA",0.320442,181,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7","CBAS1, PFIC4, SDR11E3","This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","KALRN","chr3",124175554,124175554,"NM_001024660","G","T","missense","SNM","NA","NA","NA","c.3827G>T","p.R1276L","NA",0.3,150,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kalirin RhoGEF kinase","ARHGEF24, CHD5, CHDS5, DUET, DUO, HAPIP, TRAD","Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein that interacts with the huntingtin-associated protein 1, which is a huntingtin binding protein that may function in vesicle trafficking. [provided by RefSeq, Apr 2016]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","KIAA1109","chr4",123230601,123230601,"NM_015312","G","T","missense","SNM","NA","NA","NA","c.10234G>T","p.D3412Y","NA",0.509434,53,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","KIAA1109","ALKKUCS, FSA, Tweek","This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","KLC1","chr14",104139450,104139450,"NM_001130107","C","G","missense","SNM","NA","NA","NA","c.1087C>G","p.Q363E","NA",0.266667,105,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kinesin light chain 1","KLC, KNS2, KNS2A","Conventional kinesin is a tetrameric molecule composed of two heavy chains and two light chains, and transports various cargos along microtubules toward their plus ends. The heavy chains provide the motor activity, while the light chains bind to various cargos. This gene encodes a member of the kinesin light chain family. It associates with kinesin heavy chain through an N-terminal domain, and six tetratricopeptide repeat (TPR) motifs are thought to be involved in binding of cargos such as vesicles, mitochondria, and the Golgi complex. Thus, kinesin light chains function as adapter molecules and not motors per se. Although previously named \"kinesin 2\", this gene is not a member of the kinesin-2 / kinesin heavy chain subfamily of kinesin motor proteins. Extensive alternative splicing produces isoforms with different C-termini that are proposed to bind to different cargos; however, the full-length nature and/or biological validity of most of these variants have not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","LMBRD2","chr5",36105282,36105282,"NM_001007527","T","C","missense","SNM","NA","NA","NA","c.1915A>G","p.R639G","NA",0.294872,78,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","LMBR1 domain containing 2","9930036E21Rik",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","LTBP1","chr2",33525572,33525572,"NM_206943","C","A","missense","SNM","NA","NA","NA","c.3290C>A","p.T1097N","NA",0.349398,83,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","latent transforming growth factor beta binding protein 1",null,"The protein encoded by this gene belongs to the family of latent TGF-beta binding proteins (LTBPs). The secretion and activation of TGF-betas is regulated by their association with latency-associated proteins and with latent TGF-beta binding proteins. The product of this gene targets latent complexes of transforming growth factor beta to the extracellular matrix, where the latent cytokine is subsequently activated by several different mechanisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MAN2A1","chr5",109103279,109103279,"NM_002372","C","G","missense","SNM","NA","NA","NA","c.879C>G","p.H293Q","NA",0.446809,46,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mannosidase alpha class 2A member 1","AMan II, GOLIM7, MANA2, MANII","This gene encodes a glycosyl hydrolase that localizes to the Golgi and catalyzes the final hydrolytic step in the asparagine-linked oligosaccharide (N-glycan) maturation pathway. Mutations in the mouse homolog of this gene have been shown to cause a systemic autoimmune disease similar to human systemic lupus erythematosus. [provided by RefSeq, Dec 2013]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MAPK7","chr17",19284738,19284738,"NM_002749","C","T","stopgain","SNM","NA","NA","NA","c.1216C>T","p.Q406*","NA",0.262626,99,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase 7","BMK1, ERK4, ERK5, PRKM7","The protein encoded by this gene is a member of the MAP kinase family. MAP kinases act as an integration point for multiple biochemical signals, and are involved in a wide variety of cellular processes such as proliferation, differentiation, transcription regulation and development. This kinase is specifically activated by mitogen-activated protein kinase kinase 5 (MAP2K5/MEK5). It is involved in the downstream signaling processes of various receptor molecules including receptor type kinases, and G protein-coupled receptors. In response to extracelluar signals, this kinase translocates to cell nucleus, where it regulates gene expression by phosphorylating, and activating different transcription factors. Four alternatively spliced transcript variants of this gene encoding two distinct isoforms have been reported. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","MGAT5","chr2",135095919,135095919,"NM_002410","G","T","missense","SNM","NA","NA","NA","c.735G>T","p.M245I","NA",0.27907,43,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase","GNT-V, GNT-VA, MGAT5A","The protein encoded by this gene belongs to the glycosyltransferase family. It catalyzes the addition of beta-1,6-N-acetylglucosamine to the alpha-linked mannose of biantennary N-linked oligosaccharides present on the newly synthesized glycoproteins. It is one of the most important enzymes involved in the regulation of the biosynthesis of glycoprotein oligosaccharides. Alterations of the oligosaccharides on cell surface glycoproteins cause significant changes in the adhesive or migratory behavior of a cell. Increase in the activity of this enzyme has been correlated with the progression of invasive malignancies. [provided by RefSeq, Oct 2011]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","NEO1","chr15",73566210,73566210,"NM_002499","G","T","missense","SNM","NA","NA","NA","c.3024G>T","p.E1008D","NA",0.289157,166,0.0153846,130,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","neogenin 1","IGDCC2, NGN, NTN1R2","This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","NFX1","chr9",33318743,33318743,"NM_002504","A","T","missense","SNM","NA","NA","NA","c.1603A>T","p.S535C","NA",0.308824,136,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear transcription factor, X-box binding 1","NFX2, TEG-42, Tex42","MHC class II gene expression is controlled primarily at the transcriptional level by transcription factors that bind to the X and Y boxes, two highly conserved elements in the proximal promoter of MHC class II genes. The protein encoded by this gene is a transcriptional repressor capable of binding to the conserved X box motif of HLA-DRA and other MHC class II genes in vitro. The protein may play a role in regulating the duration of an inflammatory response by limiting the period in which class II MHC molecules are induced by IFN-gamma. Three alternative splice variants, each of which encodes a different isoform, have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","NSD1","chr5",176562488,176562488,"NM_022455","G","T","missense","SNM","NA","NA","NA","c.384G>T","p.Q128H","NA",0.423077,78,0.0169492,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear receptor binding SET domain protein 1","ARA267, KMT3B, SOTOS, SOTOS1, STO","This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]","Meth"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PAN2","chr12",56718202,56718202,"NM_001127460","C","T","missense","SNM","NA","NA","NA","c.1804G>A","p.E602K","NA",0.267241,116,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","poly(A) specific ribonuclease subunit PAN2","USP52","This gene encodes a deadenylase that functions as the catalytic subunit of the polyadenylate binding protein dependent poly(A) nuclease complex. The encoded protein is a magnesium dependent 3' to 5' exoribonuclease that is involved in the degradation of cytoplasmic mRNAs. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PDDC1","chr11",773573,773573,"NM_182612","C","A","missense","SNM","NA","NA","NA","c.304G>T","p.A102S","NA",0.278689,61,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Parkinson disease 7 domain containing 1","zgc:123196",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PHF3","chr6",64401734,64401734,"NM_015153","G","C","missense","SNM","NA","NA","NA","c.2297G>C","p.C766S","NA",0.317308,104,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PHD finger protein 3",null,"This gene encodes a member of a PHD finger-containing gene family. This gene may function as a transcription factor and may be involved in glioblastomas development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PLEKHA7","chr11",16834660,16834660,"NM_175058","C","A","missense","SNM","NA","NA","NA","c.2007G>T","p.K669N","NA",0.297872,94,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pleckstrin homology domain containing A7",null,null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","POLD1","chr19",50918165,50918165,"NM_002691","G","T","missense","SNM","NA","NA","NA","c.2482G>T","p.G828C","NA",0.295455,132,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DNA polymerase delta 1, catalytic subunit","CDC2, CRCS10, MDPL, POLD","This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6. [provided by RefSeq, Mar 2012]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","PTPN12","chr7",77212933,77212933,"NM_002835","A","G","missense","SNM","NA","NA","NA","c.347A>G","p.D116G","NA",0.307692,91,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein tyrosine phosphatase, non-receptor type 12","PTP-PEST, PTPG1","The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains a C-terminal PEST motif, which serves as a protein-protein interaction domain, and may regulate protein intracellular half-life. This PTP was found to bind and dephosphorylate the product of the oncogene c-ABL and thus may play a role in oncogenesis. This PTP was also shown to interact with, and dephosphorylate, various products related to cytoskeletal structure and cell adhesion, such as p130 (Cas), CAKbeta/PTK2B, PSTPIP1, and paxillin. This suggests it has a regulatory role in controlling cell shape and mobility. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","RAB3GAP2","chr1",220326604,220326604,"NM_012414","G","C","missense","SNM","NA","NA","NA","c.3790C>G","p.Q1264E","NA",0.233846,325,0,157,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAB3 GTPase activating non-catalytic protein subunit 2","RAB3-GAP150, RAB3GAP150, SPG69, WARBM2, p150","The protein encoded by this gene belongs to the RAB3 protein family, members of which are involved in regulated exocytosis of neurotransmitters and hormones. This protein forms the Rab3 GTPase-activating complex with RAB3GAP1, where it constitutes the regulatory subunit, whereas the latter functions as the catalytic subunit. This gene has the highest level of expression in the brain, consistent with it having a key role in neurodevelopment. Mutations in this gene are associated with Martsolf syndrome.[provided by RefSeq, Oct 2009]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","RB1","chr13",49033831,49033831,"NM_000321","G","T","splicing","SNM","NA","NA","NA","c.1968G>T","p.R656R","NA","<NA>","<NA>","<NA>","<NA>","NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","RNF216","chr7",5781097,5781097,"NM_207111","C","T","missense","SNM","NA","NA","NA","c.551G>A","p.G184D","NA",0.2891,211,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 216","CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN","This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SAP130","chr2",128757930,128757930,"NM_001145928","G","C","missense","SNM","NA","NA","NA","c.1046C>G","p.S349C","NA",0.453039,362,0,374,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Sin3A associated protein 130",null,"SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SEC31A","chr4",83763522,83763522,"NM_014933","T","C","missense","SNM","NA","NA","NA","c.2739A>G","p.I913M","NA",0.436364,55,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SEC31 homolog A, COPII coat complex component","ABP125, ABP130, HSPC275, HSPC334, SEC31L1","The protein encoded by this gene shares similarity with the yeast Sec31 protein, and is a component of the outer layer of the coat protein complex II (COPII). The encoded protein is involved in vesicle budding from the endoplasmic reticulum (ER) and contains multiple WD repeats near the N-terminus and a proline-rich region in the C-terminal half. It associates with the protein encoded by the SEC13 homolog, nuclear pore and COPII coat complex component (SEC13), and is required for ER-Golgi transport. Monoubiquitylation of this protein by CUL3-KLHL12 was found to regulate the size of COPII coats to accommodate unusually shaped cargo. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SEMA4D","chr9",91994503,91994503,"NM_006378","C","A","missense","SNM","NA","NA","NA","c.1705G>T","p.G569C","NA",0.666667,66,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","semaphorin 4D","C9orf164, CD100, COLL4, M-sema-G, SEMAJ, coll-4",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SKIV2L2","chr5",54710021,54710021,"NM_015360","G","C","missense","SNM","NA","NA","NA","c.2763G>C","p.M921I","NA",0.212121,98,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Ski2 like RNA helicase 2",null,null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SPTY2D1","chr11",18636729,18636729,"NM_194285","C","G","missense","SNM","NA","NA","NA","c.1092G>C","p.K364N","NA",0.305556,72,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SPT2 chromatin protein domain containing 1","Spt2",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SSBP1","chr7",141441980,141441980,"NM_003143","G","C","missense","SNM","NA","NA","NA","c.36G>C","p.Q12H","NA",0.154362,149,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","single stranded DNA binding protein 1","Mt-SSB, SOSS-B1, SSBP, mtSSB","SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","SYNJ2","chr6",158483150,158483150,"NM_003898","T","G","missense","SNM","NA","NA","NA","c.1081T>G","p.W361G","NA",0.25641,273,0,186,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","synaptojanin 2","INPP5H","The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TEP1","chr14",20850814,20850814,"NM_007110","C","A","missense","SNM","NA","NA","NA","c.4108G>T","p.D1370Y","NA",0.294798,173,0,99,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","telomerase associated protein 1","TLP1, TP1, TROVE1, VAULT2, p240","This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TLK1","chr2",171863106,171863106,"NM_012290","T","A","missense","SNM","NA","NA","NA","c.1646A>T","p.Y549F","NA",0.285714,70,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tousled like kinase 1","PKU-beta","The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TMED7-TICAM2","chr5",114952018,114952018,"NM_001164468","T","C","missense","SNM","NA","NA","NA","c.563A>G","p.Y188C","NA",0.380952,63,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TMED7-TICAM2 readthrough","MyD88-4, TICAM-2, TICAM2, TIRAP3, TIRP, TRAM","This locus represents naturally occurring read-through transcription between the neighboring transmembrane emp24 protein transport domain containing 7 (TMED7) and toll-like receptor adaptor molecule 2 (TICAM2) genes. Alternative splicing results in multiple transcript variants, one of which encodes a fusion protein that shares sequence identity with the products of each individual gene. This fusion product functions to negatively regulate the adaptor MyD88-independent toll-like receptor 4 pathway. [provided by RefSeq, Nov 2010]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7579312,7579312,"NM_000546","C","A","splicing","SNM","NA","NA","NA","c.375G>T","p.T125T","NA",0.4,40,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TRAPPC10","chr21",45518365,45518365,"NM_003274","A","C","missense","SNM","NA","NA","NA","c.3296A>C","p.E1099A","NA",0.314685,143,0,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","trafficking protein particle complex 10","EHOC-1, EHOC1, GT334, TMEM1, TRS130, TRS30","The protein encoded by this gene is a transmembrane protein found in the cis-Golgi complex. The encoded protein is part of the multisubunit transport protein particle (TRAPP) complex and may be involved in vesicular transport from the endoplasmic reticulum to the Golgi. Mutations in this gene could be responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy, or for autoimmune polyglandular disease type 1. [provided by RefSeq, Jul 2008]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","WIZ","chr19",15536175,15536175,"NM_021241","C","A","missense","SNM","NA","NA","NA","c.1486G>T","p.V496L","NA",0.34,50,0,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","widely interspaced zinc finger motifs","ZNF803",null,"NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ZNF2","chr2",95847215,95847215,"NM_021088","G","T","missense","SNM","NA","NA","NA","c.642G>T","p.R214S","NA",0.293706,143,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 2","A1-5, ZNF661, Zfp661","The protein encoded by this gene belongs to the C2H2-type zinc-finger protein family. The exact function of this gene is not known, however, zinc-finger proteins are known to interact with DNA and function as transcription regulators. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]","NA"]
["S00739","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ZNF606","chr19",58489823,58489823,"NM_025027","T","C","missense","SNM","NA","NA","NA","c.2225A>G","p.E742G","NA",0.285714,105,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 606","ZNF328","This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]","NA"]
["S00790","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","FEM1A","chr19",4792320,4792320,"NM_018708","A","T","missense","SNM","NA","NA","NA","c.454A>T","p.T152S","NA",0.333333,21,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fem-1 homolog A","EPRAP",null,"NA"]
["S00790","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","RPL36","chr19",5691591,5691591,"NM_015414","G","T","missense","SNM","NA","NA","NA","c.277G>T","p.V93L","NA",0.42,50,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ribosomal protein L36","L36","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","NA"]
["S00790","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","RPS5","chr19",58904526,58904526,"NM_001009","G","A","missense","SNM","NA","NA","NA","c.292G>A","p.E98K","NA",0.127551,195,0,156,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ribosomal 40S subunit protein S5","YJR123W",null,"NA"]
["S00790","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","VLDLR","chr9",2646347,2646347,"NM_003383","G","T","missense","SNM","NA","NA","NA","c.1498G>T","p.D500Y","NA",0.166667,114,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","very low density lipoprotein receptor","AA408956, AI451093, AW047288",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","ACBD6","chr1",180257647,180257647,"NM_032360","C","A","missense","SNM","NA","NA","NA","c.700G>T","p.A234S","NA",0.364865,74,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA binding domain containing 6",null,null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","AP2M1","chr3",183899836,183899836,"NM_004068","G","T","splicing","SNM","NA","NA","NA","c.963_splice","e8+1","NA",0.215447,246,0.00606061,165,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adaptor related protein complex 2 subunit mu 1","AP50, CLAPM1, mu2","This gene encodes a subunit of the heterotetrameric coat assembly protein complex 2 (AP2), which belongs to the adaptor complexes medium subunits family. The encoded protein is required for the activity of a vacuolar ATPase, which is responsible for proton pumping occurring in the acidification of endosomes and lysosomes. The encoded protein may also play an important role in regulating the intracellular trafficking and function of CTLA-4 protein. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2015]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","ASPSCR1","chr17",79967006,79967006,"NM_001251888","G","A","missense","SNM","NA","NA","NA","c.1027G>A","p.E343K","NA",0.151261,118,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ASPSCR1, UBX domain containing tether for SLC2A4","ASPCR1, ASPL, ASPS, RCC17, TUG, UBXD9, UBXN9","The protein encoded by this gene contains a UBX domain and interacts with glucose transporter type 4 (GLUT4). This protein is a tether, which sequesters the GLUT4 in intracellular vesicles in muscle and fat cells in the absence of insulin, and redistributes the GLUT4 to the plasma membrane within minutes of insulin stimulation. Translocation t(X;17)(p11;q25) of this gene with transcription factor TFE3 gene results in a ASPSCR1-TFE3 fusion protein in alveolar soft part sarcoma and in renal cell carcinomas. Multiple alternatively spliced transcript variants have been found. [provided by RefSeq, Oct 2011]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","C5","chr9",123744160,123744160,"NM_001735","T","A","missense","SNM","NA","NA","NA","c.3448A>T","p.I1150F","NA",0.333333,90,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","complement C5","C5D, C5a, C5b, CPAMD4, ECLZB","This gene encodes a component of the complement system, a part of the innate immune system that plays an important role in inflammation, host homeostasis, and host defense against pathogens. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the C5 alpha chain, C5 beta chain, C5a anaphylatoxin and C5b. The C5 protein is comprised of the C5 alpha and beta chains, which are linked by a disulfide bridge. Cleavage of the alpha chain by a convertase enzyme results in the formation of the C5a anaphylatoxin, which possesses potent spasmogenic and chemotactic activity, and the C5b macromolecular cleavage product, a subunit of the membrane attack complex (MAC). Mutations in this gene cause complement component 5 deficiency, a disease characterized by recurrent bacterial infections. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHAMP1","chr13",115090854,115090854,"NM_032436","G","T","missense","SNM","NA","NA","NA","c.1537G>T","p.D513Y","NA",0.196721,61,0.0175439,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome alignment maintaining phosphoprotein 1","C13orf8, CAMP, CHAMP, MRD40, ZNF828","This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with an autosomal dominant form of intellectual disability. [provided by RefSeq, Jul 2017]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","COL9A2","chr1",40779906,40779906,"NM_001852","C","A","missense","SNM","NA","NA","NA","c.220G>T","p.D74Y","NA",0.213439,253,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","collagen type IX alpha 2 chain","DJ39G22.4, EDM2, MED, STL5","This gene encodes one of the three alpha chains of type IX collagen, the major collagen component of hyaline cartilage. Type IX collagen, a heterotrimeric molecule, is usually found in tissues containing type II collagen, a fibrillar collagen. This chain is unusual in that, unlike the other two type IX alpha chains, it contains a covalently attached glycosaminoglycan side chain. Mutations in this gene are associated with multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","CUL7","chr6",43014785,43014785,"NM_001168370","C","T","missense","SNM","NA","NA","NA","c.2482G>A","p.V828M","NA",0.257143,105,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cullin 7","3M1, CUL-7, KIAA0076, dJ20C7.5","The protein encoded by this gene is a component of an E3 ubiquitin-protein ligase complex. The encoded protein interacts with TP53, CUL9, and FBXW8 proteins. Defects in this gene are a cause of 3M syndrome type 1 (3M1). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","DKC1","chrX",153993748,153993748,"NM_001363","C","G","missense","SNM","NA","NA","NA","c.114C>G","p.I38M","NA",0.329268,82,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dyskerin pseudouridine synthase 1","CBF5, DKC, DKCX, NAP57, NOLA4, XAP101","This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucleolar RNA ribonucleoproteins (snoRNPs). This gene is highly conserved and widely expressed, and may play additional roles in nucleo-cytoplasmic shuttling, DNA damage response, and cell adhesion. Mutations have been associated with X-linked dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","DNMT1","chr19",10249179,10249179,"NM_001130823","C","A","missense","SNM","NA","NA","NA","c.4051G>T","p.A1351S","NA",0.303797,79,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DNA methyltransferase 1","ADCADN, AIM, CXXC9, DNMT, HSN1E, MCMT, m.HsaI","This gene encodes an enzyme that transfers methyl groups to cytosine nucleotides of genomic DNA. This protein is the major enzyme responsible for maintaining methylation patterns following DNA replication and shows a preference for hemi-methylated DNA. Methylation of DNA is an important component of mammalian epigenetic gene regulation. Aberrant methylation patterns are found in human tumors and associated with developmental abnormalities. Variation in this gene has been associated with cerebellar ataxia, deafness, and narcolepsy, and neuropathy, hereditary sensory, type IE. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","EYA2","chr20",45702864,45702864,"NM_005244","C","A","missense","SNM","NA","NA","NA","c.551C>A","p.P184H","NA",0.357143,182,0.00961538,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","EYA transcriptional coactivator and phosphatase 2","EAB1","This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may be post-translationally modified and may play a role in eye development. A similar protein in mice can act as a transcriptional activator. Alternative splicing results in multiple transcript variants, but the full-length natures of all of these variants have not yet been determined. [provided by RefSeq, Jul 2009]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM114A2","chr5",153413864,153413864,"NM_018691","G","A","missense","SNM","NA","NA","NA","c.284C>T","p.S95L","NA",0.205882,68,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 114 member A2","133K02, C5orf3",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","FARP2","chr2",242344254,242344254,"NM_014808","G","A","missense","SNM","NA","NA","NA","c.329G>A","p.R110Q","NA",0.0775862,115,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FERM, ARH/RhoGEF and pleckstrin domain protein 2","FIR, FRG, PLEKHC3",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","FUT1","chr19",49253974,49253974,"NM_000148","C","A","missense","SNM","NA","NA","NA","c.565G>T","p.D189Y","NA",0.383562,73,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fucosyltransferase 1 (H blood group)","H, HH, HSC","This gene encodes a Golgi stack membrane protein that is involved in the creation of a precursor of the H antigen, which is required for the final step in the synthesis of soluble A and B antigens. This is one of two genes encoding the galactoside 2-L-fucosyltransferase enzyme. Mutations in this gene are a cause of the H-Bombay blood group. [provided by RefSeq, Aug 2016]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","KDR","chr4",55955900,55955900,"NM_002253","C","A","missense","SNM","NA","NA","NA","c.3262G>T","p.V1088F","NA",0.188679,106,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kinase insert domain receptor","CD309, FLK1, VEGFR, VEGFR2","Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","KDR","chr4",55964887,55964887,"NM_002253","T","A","missense","SNM","NA","NA","NA","c.2350A>T","p.I784F","NA",0.197674,85,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kinase insert domain receptor","CD309, FLK1, VEGFR, VEGFR2","Vascular endothelial growth factor (VEGF) is a major growth factor for endothelial cells. This gene encodes one of the two receptors of the VEGF. This receptor, known as kinase insert domain receptor, is a type III receptor tyrosine kinase. It functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis and sprouting. The signalling and trafficking of this receptor are regulated by multiple factors, including Rab GTPase, P2Y purine nucleotide receptor, integrin alphaVbeta3, T-cell protein tyrosine phosphatase, etc.. Mutations of this gene are implicated in infantile capillary hemangiomas. [provided by RefSeq, May 2009]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","KLHL2","chr4",166239097,166239097,"NM_001161521","A","T","missense","SNM","NA","NA","NA","c.1741A>T","p.M581L","NA",0.263636,110,0,120,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kelch like family member 2","ABP-KELCH, MAV, MAYVEN",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","MCM2","chr3",127339717,127339717,"NM_004526","G","T","missense","SNM","NA","NA","NA","c.2442G>T","p.M814I","NA",0.283784,74,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","minichromosome maintenance complex component 2","BM28, CCNL1, CDCL1, D3S3194, DFNA70, MITOTIN, cdc19","The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are involved in the initiation of eukaryotic genome replication. The hexameric protein complex formed by MCM proteins is a key component of the pre-replication complex (pre_RC) and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein forms a complex with MCM4, 6, and 7, and has been shown to regulate the helicase activity of the complex. This protein is phosphorylated, and thus regulated by, protein kinases CDC2 and CDC7. Multiple alternatively spliced transcript variants have been found, but the full-length nature of some variants has not been defined. [provided by RefSeq, Oct 2012]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","MST1R","chr3",49940219,49940219,"NM_002447","G","A","missense","SNM","NA","NA","NA","c.824C>T","p.A275V","NA",0.223684,76,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","macrophage stimulating 1 receptor","CD136, CDw136, NPCA3, PTK8, RON","This gene encodes a cell surface receptor for macrophage-stimulating protein (MSP) with tyrosine kinase activity. The mature form of this protein is a heterodimer of disulfide-linked alpha and beta subunits, generated by proteolytic cleavage of a single-chain precursor. The beta subunit undergoes tyrosine phosphorylation upon stimulation by MSP. This protein is expressed on the ciliated epithelia of the mucociliary transport apparatus of the lung, and together with MSP, thought to be involved in host defense. Alternative splicing generates multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Jan 2016]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","NARF","chr17",80430502,80430502,"NM_031968","G","C","missense","SNM","NA","NA","NA","c.448G>C","p.E150Q","NA",0.14,100,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear prelamin A recognition factor","IOP2","Several proteins have been found to be prenylated and methylated at their carboxyl-terminal ends. Prenylation was initially believed to be important only for membrane attachment. However, another role for prenylation appears to be its importance in protein-protein interactions. The only nuclear proteins known to be prenylated in mammalian cells are prelamin A- and B-type lamins. Prelamin A is farnesylated and carboxymethylated on the cysteine residue of a carboxyl-terminal CaaX motif. This post-translationally modified cysteine residue is removed from prelamin A when it is endoproteolytically processed into mature lamin A. The protein encoded by this gene binds to the prenylated prelamin A carboxyl-terminal tail domain. It may be a component of a prelamin A endoprotease complex. The encoded protein is located in the nucleus, where it partially colocalizes with the nuclear lamina. It shares limited sequence similarity with iron-only bacterial hydrogenases. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene, including one with a novel exon that is generated by RNA editing. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","NUP205","chr7",135279385,135279385,"NM_015135","G","A","missense","SNM","NA","NA","NA","c.1921G>A","p.V641I","NA",0.140127,155,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nucleoporin 205","C7orf14, NPHS13","This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","OS9","chr12",58112967,58112967,"NM_006812","T","A","splicing","SNM","NA","NA","NA","c.1600_splice","e12+2","NA",0.207547,53,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","OS9, endoplasmic reticulum lectin","ERLEC2, OS-9","This gene encodes a protein that is highly expressed in osteosarcomas. This protein binds to the hypoxia-inducible factor 1 (HIF-1), a key regulator of the hypoxic response and angiogenesis, and promotes the degradation of one of its subunits. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLD3","chr19",40882668,40882668,"NM_012268","C","G","missense","SNM","NA","NA","NA","c.1172C>G","p.S391C","NA",0.268293,82,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phospholipase D family member 3","AD19, HU-K4, HUK4, SCA46","This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLEKHO1","chr1",150131551,150131551,"NM_016274","A","T","missense","SNM","NA","NA","NA","c.1063A>T","p.T355S","NA",0.292683,82,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pleckstrin homology domain containing O1","CKIP-1, CKIP1, JBP, OC120",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","PODXL","chr7",131195778,131195778,"NM_001018111","G","A","missense","SNM","NA","NA","NA","c.515C>T","p.S172F","NA",0.385681,864,0,464,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","podocalyxin like","Gp200, PC, PCLP, PCLP-1","This gene encodes a member of the sialomucin protein family. The encoded protein was originally identified as an important component of glomerular podocytes. Podocytes are highly differentiated epithelial cells with interdigitating foot processes covering the outer aspect of the glomerular basement membrane. Other biological activities of the encoded protein include: binding in a membrane protein complex with Na+/H+ exchanger regulatory factor to intracellular cytoskeletal elements, playing a role in hematopoetic cell differentiation, and being expressed in vascular endothelium cells and binding to L-selectin. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","PXDC1","chr6",3737396,3737396,"NM_183373","T","G","missense","SNM","NA","NA","NA","c.383A>C","p.E128A","NA",0.376623,154,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PX domain containing 1","1300014I06Rik",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","RPS6KA2","chr6",166831750,166831750,"NM_001006932","G","A","missense","SNM","NA","NA","NA","c.1925C>T","p.S642F","NA",0.138298,93,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ribosomal protein S6 kinase A2","HU-2, MAPKAPK1C, RSK, RSK3, S6K-alpha, S6K-alpha2, p90-RSK3, p90RSK2, pp90RSK3","This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains two non-identical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternative splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jan 2016]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","SAP30L","chr5",153833058,153833058,"NM_024632","G","A","missense","SNM","NA","NA","NA","c.421G>A","p.E141K","NA",0.519685,126,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SAP30 like","NS4ATP2",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","SHOC2","chr10",112724211,112724211,"NM_007373","G","C","missense","SNM","NA","NA","NA","c.95G>C","p.G32A","NA",0.5,34,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SHOC2, leucine rich repeat scaffold protein","SIAA0862, SOC2, SUR8","This gene encodes a protein that consists almost entirely of leucine-rich repeats, a domain implicated in protein-protein interactions. The protein may function as a scaffold linking RAS to downstream signal transducers in the RAS/ERK MAP kinase signaling cascade. Mutations in this gene have been associated with Noonan-like syndrome with loose anagen hair. [provided by RefSeq, May 2010]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC4A2","chr7",150763623,150763623,"NM_003040","G","T","stopgain","SNM","NA","NA","NA","c.598G>T","p.E200*","NA",0.622222,45,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 4 (anion exchanger), member 2","Ae2, B3RP",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","SNRPB","chr20",2446467,2446467,"NM_198216","T","A","splicing","SNM","NA","NA","NA","c.156_splice","e4-2","NA",0.310502,219,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","small nuclear ribonucleoprotein polypeptides B and B1","CCMS, COD, SNRPB1, Sm-B/B', SmB/B', SmB/SmB', snRNP-B","The protein encoded by this gene is one of several nuclear proteins that are found in common among U1, U2, U4/U6, and U5 small ribonucleoprotein particles (snRNPs). These snRNPs are involved in pre-mRNA splicing, and the encoded protein may also play a role in pre-mRNA splicing or snRNP structure. Autoantibodies from patients with systemic lupus erythematosus frequently recognize epitopes on the encoded protein. Two transcript variants encoding different isoforms (B and B') have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","SNTB1","chr8",121644772,121644772,"NM_021021","C","A","missense","SNM","NA","NA","NA","c.908G>T","p.R303L","NA",0.172414,318,0,154,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","syntrophin beta 1","59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43","Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","TEX2","chr17",62290323,62290323,"NM_018469","A","G","missense","SNM","NA","NA","NA","c.1255T>C","p.C419R","NA",0.298851,87,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","testis expressed gene 2","4930568E07Rik, AI553404, Def-5, Taz4",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMX4","chr20",7976702,7976702,"NM_021156","C","A","missense","SNM","NA","NA","NA","c.484G>T","p.G162C","NA",0.408163,49,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thioredoxin related transmembrane protein 4","DJ971N18.2, PDIA14, TXNDC13","This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRRAP","chr7",98548598,98548598,"NM_001244580","G","C","missense","SNM","NA","NA","NA","c.5413G>C","p.E1805Q","NA",0.261146,157,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transformation/transcription domain associated protein","PAF350/400, PAF400, STAF40, TR-AP, Tra1","This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","TTC30A","chr2",178482919,178482919,"NM_152275","C","T","missense","SNM","NA","NA","NA","c.511G>A","p.E171K","NA",0.168831,231,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tetratricopeptide repeat domain 30A","IFT70A, TTC30B",null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","VPS13D","chr1",12460310,12460310,"NM_015378","G","T","missense","SNM","NA","NA","NA","c.11707G>T","p.V3903F","NA",0.112426,169,0.00900901,111,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","vacuolar protein sorting 13 homolog D",null,"This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","XRCC1","chr19",44057174,44057174,"NM_006297","G","A","missense","SNM","NA","NA","NA","c.671C>T","p.S224L","NA",0.2,185,0,111,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","X-ray repair cross complementing 1","RCC, SCAR26","The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]","NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF238","chr1",244217539,244217539,"NM_205768","G","A","missense","SNM","NA","NA","NA","c.463G>A","p.D155N","NA",0.229885,87,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 238",null,null,"NA"]
["S00791","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZZEF1","chr17",3966172,3966172,"NM_015113","C","G","missense","SNM","NA","NA","NA","c.4758G>C","p.Q1586H","NA",0.217172,198,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger, ZZ-type with EF hand domain 1","8430405D05Rik, BC051585, C130099L13Rik, C85424, NSPA, mKIAA0399",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","AHNAK","chr11",62293466,62293466,"NM_001620","T","A","missense","SNM","NA","NA","NA","c.8423A>T","p.D2808V","NA",0.398467,261,0,106,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","AHNAK nucleoprotein","AHNAKRS, PM227","The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","BRPF1","chr3",9780777,9780777,"NM_001003694","C","G","missense","SNM","NA","NA","NA","c.694C>G","p.R232G","NA",0.264957,117,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bromodomain and PHD finger containing 1","BR140, IDDDFP","This gene encodes a bromodomain, PHD finger and chromo/Tudor-related Pro-Trp-Trp-Pro (PWWP) domain containing protein. The encoded protein is a component of the MOZ/MORF histone acetyltransferase complexes which function as a transcriptional regulators. This protein binds to the catalytic MYST domains of the MOZ and MORF proteins and may play a role in stimulating acetyltransferase and transcriptional activity of the complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","C21orf33","chr21",45563204,45563204,"NM_004649","C","G","missense","SNM","NA","NA","NA","c.639C>G","p.I213M","NA",0.477876,112,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome 21 open reading frame 33",null,null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHP","chr15",41571540,41571540,"NM_007236","G","A","missense","SNM","NA","NA","NA","c.541G>A","p.E181K","NA",0.636364,88,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chaoptin","Dmel_CG1744, 24B10, 516, BSH, CG1744, CHP, CT5040, Chaoptin, Chp, Dmel\\CG1744, MAb 24B10, MAb24B10, Mab24B10, Nsp, idl-A, mAB24B10, mAb 24B10, mAb24B10",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","GALNT14","chr2",31215834,31215834,"NM_024572","C","G","missense","SNM","NA","NA","NA","c.169G>C","p.D57H","NA",0.33526,172,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polypeptide N-acetylgalactosaminyltransferase 14","GALNT15, GalNac-T10, GalNac-T14","This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","GOLGB1","chr3",121400655,121400655,"NM_004487","C","G","missense","SNM","NA","NA","NA","c.8737G>C","p.E2913Q","NA",0.175781,256,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","golgin B1","GCP, GCP372, GOLIM1",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","HNRNPUL2","chr11",62487647,62487647,"NM_001079559","G","A","missense","SNM","NA","NA","NA","c.1628C>T","p.S543F","NA",0.385093,161,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","heterogeneous nuclear ribonucleoprotein U like 2","HNRPUL2, SAF-A2",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","KCNA1","chr12",5020997,5020998,"NM_000217","CC","AA","missense","DNM","NA","NA","NA","c.453_454delinsAA","p.Q152K","NA",0.712766,94,0,17,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","potassium voltage-gated channel, shaker-related subfamily, member 1","AI840627, Kca1-1, Kv1.1, MBK1, Mk-1, Shak, mceph",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","LIMK1","chr7",73513496,73513496,"NM_002314","C","T","missense","SNM","NA","NA","NA","c.536C>T","p.S179L","NA",0.258824,170,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","LIM domain kinase 1","LIMK, LIMK-1","There are approximately 40 known eukaryotic LIM proteins, so named for the LIM domains they contain. LIM domains are highly conserved cysteine-rich structures containing 2 zinc fingers. Although zinc fingers usually function by binding to DNA or RNA, the LIM motif probably mediates protein-protein interactions. LIM kinase-1 and LIM kinase-2 belong to a small subfamily with a unique combination of 2 N-terminal LIM motifs and a C-terminal protein kinase domain. LIMK1 is a serine/threonine kinase that regulates actin polymerization via phosphorylation and inactivation of the actin binding factor cofilin. This protein is ubiquitously expressed during development and plays a role in many cellular processes associated with cytoskeletal structure. This protein also stimulates axon growth and may play a role in brain development. LIMK1 hemizygosity is implicated in the impaired visuospatial constructive cognition of Williams syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Feb 2011]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","MTIF2","chr2",55470079,55470079,"NM_002453","C","T","missense","SNM","NA","NA","NA","c.1702G>A","p.D568N","NA",0.406977,86,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitochondrial translational initiation factor 2",null,"During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. [provided by RefSeq, Mar 2016]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","NFATC3","chr16",68156589,68156589,"NM_173165","C","T","missense","SNM","NA","NA","NA","c.803C>T","p.T268I","NA",0.473988,173,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3","C80703, D8Ertd281e, NFAT4, NFATx",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","NUP214","chr9",134072740,134072740,"NM_005085","G","C","missense","SNM","NA","NA","NA","c.3859G>C","p.E1287Q","NA",0.286667,150,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nucleoporin 214","CAIN, CAN","The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. This gene is a member of the FG-repeat-containing nucleoporins. The protein encoded by this gene is localized to the cytoplasmic face of the nuclear pore complex where it is required for proper cell cycle progression and nucleocytoplasmic transport. The 3' portion of this gene forms a fusion gene with the DEK gene on chromosome 6 in a t(6,9) translocation associated with acute myeloid leukemia and myelodysplastic syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","PYCR1","chr17",79892861,79892861,"NM_006907","C","T","missense","SNM","NA","NA","NA","c.481G>A","p.E161K","NA",0.362745,102,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pyrroline-5-carboxylate reductase 1","ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR","This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAD50","chr5",131940532,131940532,"NM_005732","A","G","missense","SNM","NA","NA","NA","c.2559A>G","p.I853M","NA",0.745763,59,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAD50 double strand break repair protein","NBSLD, RAD502, hRad50","The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Rad50, a protein involved in DNA double-strand break repair. This protein forms a complex with MRE11 and NBS1. The protein complex binds to DNA and displays numerous enzymatic activities that are required for nonhomologous joining of DNA ends. This protein, cooperating with its partners, is important for DNA double-strand break repair, cell cycle checkpoint activation, telomere maintenance, and meiotic recombination. Knockout studies of the mouse homolog suggest this gene is essential for cell growth and viability. Mutations in this gene are the cause of Nijmegen breakage syndrome-like disorder.[provided by RefSeq, Apr 2010]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","RELN","chr7",103417057,103417057,"NM_005045","C","T","missense","SNM","NA","NA","NA","c.491G>A","p.R164Q","NA",0.567164,201,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","reelin","reeler, rl",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","RTTN","chr18",67806856,67806856,"NM_173630","G","C","missense","SNM","NA","NA","NA","c.2767C>G","p.L923V","NA",0.271186,59,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","rotatin","MSSP","This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","TBCEL","chr11",120957773,120957773,"NM_152715","G","C","missense","SNM","NA","NA","NA","c.1243G>C","p.D415H","NA",0.735294,34,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tubulin folding cofactor E like","El, LRRC35",null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","TUBB2A","chr6",3155874,3155874,"NM_001069","C","G","missense","SNM","NA","NA","NA","c.262G>C","p.D88H","NA",0.505051,198,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tubulin beta 2A class IIa","CDCBM5, TUBB, TUBB2","Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]","NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP34","chr2",61544791,61544791,"NM_014709","C","G","missense","SNM","NA","NA","NA","c.3280G>C","p.E1094Q","NA",0.384615,78,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 34",null,null,"NA"]
["S00794","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZFP1","chr16",75203889,75203889,"NM_153688","G","A","missense","SNM","NA","NA","NA","c.881G>A","p.R294Q","NA",0.192771,82,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 1","Fnp-1, Zfp-1, mkr-1",null,"NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","ADAM10","chr15",59009887,59009887,"NM_001110","T","A","missense","SNM","NA","NA","NA","c.95A>T","p.Y32F","NA",0.72093,43,0,17,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ADAM metallopeptidase domain 10","AD10, AD18, CD156c, CDw156, HsT18717, MADM, RAK, kuz","Members of the ADAM family are cell surface proteins with a unique structure possessing both potential adhesion and protease domains. This gene encodes and ADAM family member that cleaves many proteins including TNF-alpha and E-cadherin. Alternate splicing results in multiple transcript variants encoding different proteins that may undergo similar processing. [provided by RefSeq, Feb 2016]","NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","CCDC125","chr5",68609841,68609841,"NM_176816","A","C","missense","SNM","NA","NA","NA","c.337T>G","p.L113V","NA",0.852941,34,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","coiled-coil domain containing 125","KENAE",null,"NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","DDX19A","chr16",70390047,70390047,"NM_018332","C","G","missense","SNM","NA","NA","NA","c.190C>G","p.L64V","NA",0.282609,138,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAD-box helicase 19A","DDX19-DDX19L, DDX19L",null,"NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","H2AFV","chr7",44875203,44875203,"NM_012412","G","C","missense","SNM","NA","NA","NA","c.250C>G","p.P84A","NA",0.340659,90,0.0243902,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","H2A histone family, member V","C530002L11Rik, H2A.Z2, H2a.z-2, H2av, Tg(Wnt1-cre)11Rth, Wnt1-Cre, Wnt1::Cre, Wnt1cre","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. [provided by RefSeq, Nov 2015]","NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","NARFL","chr16",783331,783331,"NM_022493","G","C","missense","SNM","NA","NA","NA","c.790C>G","p.Q264E","NA",0.359788,189,0.030303,99,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear prelamin A recognition factor-like","9030612I22Rik, AI504405, PRN",null,"NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","RGS12","chr4",3344770,3344770,"NM_198229","A","G","missense","SNM","NA","NA","NA","c.1988A>G","p.D663G","NA",0.201342,149,0.0425532,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","regulator of G protein signaling 12",null,"This gene encodes a member of the 'regulator of G protein signaling' (RGS) gene family. The encoded protein may function as a guanosine triphosphatase (GTPase)-activating protein as well as a transcriptional repressor. This protein may play a role in tumorigenesis. Multiple transcript variants encoding distinct isoforms have been identified for this gene. Other alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","STC2","chr5",172744875,172744875,"NM_003714","G","A","missense","SNM","NA","NA","NA","c.884C>T","p.S295F","NA",0.793651,63,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","stanniocalcin 2","STC-2, STCRP","This gene encodes a secreted, homodimeric glycoprotein that is expressed in a wide variety of tissues and may have autocrine or paracrine functions. The encoded protein has 10 of its 15 cysteine residues conserved among stanniocalcin family members and is phosphorylated by casein kinase 2 exclusively on its serine residues. Its C-terminus contains a cluster of histidine residues which may interact with metal ions. The protein may play a role in the regulation of renal and intestinal calcium and phosphate transport, cell metabolism, or cellular calcium/phosphate homeostasis. Constitutive overexpression of human stanniocalcin 2 in mice resulted in pre- and postnatal growth restriction, reduced bone and skeletal muscle growth, and organomegaly. Expression of this gene is induced by estrogen and altered in some breast cancers. [provided by RefSeq, Jul 2008]","NA"]
["S00795","LCNEC combined SCLC","NA","LCNEC","yes","NA","NA","NA","TRPA1","chr8",72967684,72967684,"NM_007332","C","A","missense","SNM","NA","NA","NA","c.1516G>T","p.A506S","NA",0.530612,49,0.0454545,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transient receptor potential cation channel, subfamily A, member 1","Anktm1, TRPA1b",null,"NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ARHGEF11","chr1",156917666,156917666,"NM_198236","C","T","missense","SNM","NA","NA","NA","c.2236G>A","p.D746N","NA",0.385965,285,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho guanine nucleotide exchange factor 11","GTRAP48, PDZ-RHOGEF","Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","CLP1","chr11",57428493,57428493,"NM_006831","G","A","missense","SNM","NA","NA","NA","c.863G>A","p.R288H","NA",0.479021,284,0,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Cdc14 family protein phosphatase Clp1","SPAC1782.09c, flp1",null,"NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","DAPK1","chr9",90313621,90313621,"NM_004938","C","A","missense","SNM","NA","NA","NA","c.2662C>A","p.H888N","NA",0.366834,199,0,121,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","death associated protein kinase 1","DAPK, ROCO3","Death-associated protein kinase 1 is a positive mediator of gamma-interferon induced programmed cell death. DAPK1 encodes a structurally unique 160-kD calmodulin dependent serine-threonine kinase that carries 8 ankyrin repeats and 2 putative P-loop consensus sites. It is a tumor suppressor candidate. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","FLNB","chr3",58149012,58149012,"NM_001164317","G","C","missense","SNM","NA","NA","NA","c.7246G>C","p.A2416P","NA",0.671429,140,0,118,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","filamin B","ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP","This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","IQGAP2","chr5",75967804,75967804,"NM_006633","G","A","missense","SNM","NA","NA","NA","c.3064G>A","p.A1022T","NA",0.612245,48,0,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","IQ motif containing GTPase activating protein 2",null,"This gene encodes a member of the IQGAP family. The encoded protein contains three IQ domains, one calponin homology domain, one Ras-GAP domain and one WW domain. This protein interacts with components of the cytoskeleton, with cell adhesion molecules, and with several signaling molecules to regulate cell morphology and motility. It also acts as a tumor suppressor and has been found to play a role in regulating innate antiviral responses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","MYADM","chr19",54377514,54377514,"NM_138373","C","T","missense","SNM","NA","NA","NA","c.731C>T","p.A244V","NA",0.589041,146,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myeloid associated differentiation marker","SB135",null,"NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","NFE2L2","chr2",178098810,178098810,"NM_006164","C","G","missense","SNM","NA","NA","NA","c.235G>C","p.E79Q","NA",0.809129,241,0,141,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear factor, erythroid 2 like 2","HEBP1, IMDDHH, NRF2","This gene encodes a transcription factor which is a member of a small family of basic leucine zipper (bZIP) proteins. The encoded transcription factor regulates genes which contain antioxidant response elements (ARE) in their promoters; many of these genes encode proteins involved in response to injury and inflammation which includes the production of free radicals. Multiple transcript variants encoding different isoforms have been characterized for this gene. [provided by RefSeq, Sep 2015]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","OSGEP","chr14",20916320,20916320,"NM_017807","T","A","missense","SNM","NA","NA","NA","c.647A>T","p.H216L","NA",0.113537,458,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","O-sialoglycoprotein endopeptidase","GAMOS3, GCPL1, KAE1, OSGEP1, PRSMG1, TCS3",null,"NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","QTRTD1","chr3",113795778,113795778,"NM_024638","G","T","missense","SNM","NA","NA","NA","c.735G>T","p.E245D","NA",0.637795,127,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","queuine tRNA-ribosyltransferase accessory subunit 2","I79_003547, Qtrtd1",null,"NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","SLC15A4","chr12",129299587,129299587,"NM_145648","C","T","missense","SNM","NA","NA","NA","c.575G>A","p.R192K","NA",0.286885,122,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 15 member 4","FP12591, PHT1, PTR4",null,"NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","TNFSF9","chr19",6534973,6534973,"NM_003811","A","G","missense","SNM","NA","NA","NA","c.661A>G","p.R221G","NA",0.43662,70,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TNF superfamily member 9","4-1BB-L, CD137L, TNLG5A","The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This transmembrane cytokine is a bidirectional signal transducer that acts as a ligand for TNFRSF9/4-1BB, which is a costimulatory receptor molecule in T lymphocytes. This cytokine and its receptor are involved in the antigen presentation process and in the generation of cytotoxic T cells. The receptor TNFRSF9/4-1BB is absent from resting T lymphocytes but rapidly expressed upon antigenic stimulation. The ligand encoded by this gene, TNFSF9/4-1BBL, has been shown to reactivate anergic T lymphocytes in addition to promoting T lymphocyte proliferation. This cytokine has also been shown to be required for the optimal CD8 responses in CD8 T cells. This cytokine is expressed in carcinoma cell lines, and is thought to be involved in T cell-tumor cell interaction.[provided by RefSeq, Oct 2008]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","TTC7A","chr2",47184097,47184097,"NM_020458","C","G","missense","SNM","NA","NA","NA","c.468C>G","p.N156K","NA",0.411402,649,0,267,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tetratricopeptide repeat domain 7A","GIDID, MINAT, TTC7","This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","UNC45A","chr15",91496164,91496164,"NM_018671","A","G","missense","SNM","NA","NA","NA","c.2309A>G","p.K770R","NA",0.301282,156,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","unc-45 myosin chaperone A","GC-UNC45, GCUNC-45, GCUNC45, IRO039700, SMAP-1, SMAP1, UNC-45A","This gene encodes a regulatory component of the progesterone receptor/heat shock protein 90 chaperoning complex, which functions in the assembly and folding of the progesterone receptor. The encoded protein is thought to be essential for normal cell proliferation, and for the accumulation of myosin during development of muscle cells. [provided by RefSeq, Sep 2018]","NA"]
["S00796","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ZNF239","chr10",44053458,44053458,"NM_001099282","C","A","stopgain","SNM","NA","NA","NA","c.70G>T","p.E24*","NA",0.455128,156,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 239","HOK-2, MOK2","MOK2 proteins are DNA- and RNA-binding proteins that are mainly associated with nuclear RNP components, including the nucleoli and extranucleolar structures (Arranz et al., 1997 [PubMed 9121460]).[supplied by OMIM, Mar 2008]","NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","CEP55","chr10",95276751,95276751,"NM_018131","G","A","missense","SNM","NA","NA","NA","c.739G>A","p.D247N","NA",0.625,15,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centrosomal protein 55","C10orf3, CT111, MARCH, URCC6",null,"NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","ENPP2","chr8",120629759,120629759,"NM_006209","C","A","missense","SNM","NA","NA","NA","c.524G>T","p.R175L","NA",0.435484,62,0.0185185,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ectonucleotide pyrophosphatase/phosphodiesterase 2","ATX, ATX-X, AUTOTAXIN, LysoPLD, NPP2, PD-IALPHA, PDNP2","The protein encoded by this gene functions as both a phosphodiesterase, which cleaves phosphodiester bonds at the 5' end of oligonucleotides, and a phospholipase, which catalyzes production of lysophosphatidic acid (LPA) in extracellular fluids. LPA evokes growth factor-like responses including stimulation of cell proliferation and chemotaxis. This gene product stimulates the motility of tumor cells and has angiogenic properties, and its expression is upregulated in several kinds of carcinomas. The gene product is secreted and further processed to make the biologically active form. Several alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2008]","NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","FUT8","chr14",66190872,66190872,"NM_178156","G","T","missense","SNM","NA","NA","NA","c.1090G>T","p.V364F","NA",0.369231,65,0.0142857,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fucosyltransferase 8","CDGF","This gene encodes an enzyme belonging to the family of fucosyltransferases. The product of this gene catalyzes the transfer of fucose from GDP-fucose to N-linked type complex glycopeptides. This enzyme is distinct from other fucosyltransferases which catalyze alpha1-2, alpha1-3, and alpha1-4 fucose addition. The expression of this gene may contribute to the malignancy of cancer cells and to their invasive and metastatic capabilities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]","NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRWD1","chr7",102106380,102106380,"NM_152892","T","G","missense","SNM","NA","NA","NA","c.197T>G","p.L66R","NA",0.423841,150,0.0222222,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeats and WD repeat domain containing 1","CENP-33, ORCA","The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]","NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","NTM","chr11",132177601,132177601,"NM_001144058","A","T","missense","SNM","NA","NA","NA","c.545A>T","p.E182V","NA",0.421525,223,0.00657895,152,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","neurotrimin","CEPU-1, HNT, IGLON2, NTRI","This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]","NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","NTM","chr11",132177603,132177603,"NM_001144058","G","T","missense","SNM","NA","NA","NA","c.547G>T","p.D183Y","NA",0.41048,229,0.00628931,159,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","neurotrimin","CEPU-1, HNT, IGLON2, NTRI","This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]","NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","RNF144A","chr2",7160730,7160730,"NM_014746","G","T","missense","SNM","NA","NA","NA","c.428G>T","p.C143F","NA",0.28,99,0.0147059,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 144A","RNF144, UBCE7IP4, hUIP4","This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]","NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","TTC30A","chr2",178481810,178481810,"NM_152275","C","A","missense","SNM","NA","NA","NA","c.1620G>T","p.M540I","NA",0.507042,71,0.0227273,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tetratricopeptide repeat domain 30A","IFT70A, TTC30B",null,"NA"]
["S01093","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF510","chr9",99521401,99521401,"NM_014930","G","T","missense","SNM","NA","NA","NA","c.1711C>A","p.P571T","NA",0.482759,29,0.0243902,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 510",null,"This gene encodes a krueppel C2H2-type zinc-finger protein family member. The encoded protein is expressed in several cancer cell types and may be a biomarker for early diagnosis of these cancers. [provided by RefSeq, Sep 2015]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ABHD16B","chr20",62493764,62493764,"NM_080622","G","A","missense","SNM","NA","NA","NA","c.871G>A","p.V291M","NA",0.4375,32,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","abhydrolase domain containing 16B","C20orf135, dJ591C20.1",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","AFAP1","chr4",7780545,7780546,"NM_001134647","AG","-","frameshift deletion","DEL","NA","NA","NA","c.1840_1841delCT","p.L614fs","NA",0.251256,199,0,166,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","actin filament associated protein 1","AFAP, AFAP-110, AFAP110","The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ANKRD30A","chr10",37436307,37436307,"NM_052997","G","T","stopgain","SNM","NA","NA","NA","c.1297G>T","p.E433*","NA",0.46875,32,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ankyrin repeat domain 30A","NY-BR-1","This gene encodes a DNA-binding transcription factor that is uniquely expressed in mammary epithelium and the testis. Altered expression levels have been associated with breast cancer progression. [provided by RefSeq, Nov 2016]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ARHGAP5","chr14",32586383,32586383,"NM_001030055","G","A","missense","SNM","NA","NA","NA","c.3755G>A","p.R1252H","NA",0.308642,81,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Rho GTPase activating protein 5","GFI2, RhoGAP5, p190-B, p190BRhoGAP","Rho GTPase activating protein 5 negatively regulates RHO GTPases, a family which may mediate cytoskeleton changes by stimulating the hydrolysis of bound GTP. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ASPM","chr1",197060099,197060099,"NM_018136","C","A","stopgain","SNM","NA","NA","NA","c.9517G>T","p.E3173*","NA",0.372549,51,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","abnormal spindle microtubule assembly","ASP, Calmbp1, MCPH5","This gene is the human ortholog of the Drosophila melanogaster 'abnormal spindle' gene (asp), which is essential for normal mitotic spindle function in embryonic neuroblasts. Studies in mouse also suggest a role of this gene in mitotic spindle regulation, with a preferential role in regulating neurogenesis. Mutations in this gene are associated with microcephaly primary type 5. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2011]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","BAX","chr19",49459486,49459486,"NM_004324","C","T","stopgain","SNM","NA","NA","NA","c.265C>T","p.R89*","NA",0.581395,86,0,176,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","BCL2 associated X, apoptosis regulator","BCL2L4","The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein forms a heterodimer with BCL2, and functions as an apoptotic activator. This protein is reported to interact with, and increase the opening of, the mitochondrial voltage-dependent anion channel (VDAC), which leads to the loss in membrane potential and the release of cytochrome c. The expression of this gene is regulated by the tumor suppressor P53 and has been shown to be involved in P53-mediated apoptosis. Multiple alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","C12orf74","chr12",93100532,93100532,"NM_001037671","C","T","missense","SNM","NA","NA","NA","c.125C>T","p.P42L","NA",0.3625,80,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chromosome 12 open reading frame 74",null,null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","C1orf150","chr1",247719713,247719713,"NM_145278","C","G","missense","SNM","NA","NA","NA","c.34C>G","p.L12V","NA",0.28,25,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","germinal center associated signaling and motility like","C1orf150","This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","C20orf194","chr20",3299049,3299049,"NM_001009984","T","A","splicing","SNM","NA","NA","NA","c.1357_splice","e18-2","NA",0.363636,99,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chromosome 20 open reading frame 194",null,"This gene encodes an uncharacterized protein with a C-terminal coiled-coil region. The gene is located on chromosome 20p13 in a 1.8 Mb region linked to a spinocerebellar ataxia phenotype, but this gene does not appear to be a disease candidate. [provided by RefSeq, Dec 2011]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","CADM2","chr3",86114880,86114880,"NM_153184","G","A","missense","SNM","NA","NA","NA","c.1195G>A","p.G399R","NA",0.634146,41,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cell adhesion molecule 2","IGSF4D, NECL3, Necl-3, SynCAM 2, synCAM2","This gene encodes a member of the synaptic cell adhesion molecule 1 (SynCAM) family which belongs to the immunoglobulin (Ig) superfamily. The encoded protein has three Ig-like domains and a cytosolic protein 4.1 binding site near the C-terminus. Proteins belonging to the protein 4.1 family crosslink spectrin and interact with other cytoskeletal proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","CD96","chr3",111366416,111366416,"NM_198196","G","T","stopgain","SNM","NA","NA","NA","c.1552G>T","p.G518*","NA",0.557895,95,0,135,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","CD96 molecule","TACTILE","The protein encoded by this gene belongs to the immunoglobulin superfamily. It is a type I membrane protein. The protein may play a role in the adhesive interactions of activated T and NK cells during the late phase of the immune response. It may also function in antigen presentation. Alternative splicing generates multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jan 2016]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","CES1","chr16",55846828,55846828,"NM_001025195","C","A","missense","SNM","NA","NA","NA","c.1073G>T","p.W358L","NA",0.283019,106,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","carboxylesterase 1","ACAT, CE-1, CEH, CES2, HMSE, HMSE1, PCE-1, REH, SES1, TGH, hCE-1","This gene encodes a member of the carboxylesterase large family. The family members are responsible for the hydrolysis or transesterification of various xenobiotics, such as cocaine and heroin, and endogenous substrates with ester, thioester, or amide bonds. They may participate in fatty acyl and cholesterol ester metabolism, and may play a role in the blood-brain barrier system. This enzyme is the major liver enzyme and functions in liver drug clearance. Mutations of this gene cause carboxylesterase 1 deficiency. Three transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","CLVS2","chr6",123369766,123369766,"NM_001010852","G","T","splicing","SNM","NA","NA","NA","c.565_splice","e3-1","NA",0.326241,141,0,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","clavesin 2","C6orf212, C6orf213, RLBP1L2, bA160A10.4","This gene encodes a protein that belongs to the SEC14/CRAL-TRIO family of proteins. A similar protein in rat is thought to function in the endosomal pathway between early endosomes and mature lysosomes. [provided by RefSeq, Aug 2013]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","COL3A1","chr2",189871152,189871152,"NM_000090","G","T","stopgain","SNM","NA","NA","NA","c.3175G>T","p.G1059*","NA",0.5,44,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","collagen type III alpha 1 chain","EDS4A, EDSVASC","This gene encodes the pro-alpha1 chains of type III collagen, a fibrillar collagen that is found in extensible connective tissues such as skin, lung, uterus, intestine and the vascular system, frequently in association with type I collagen. Mutations in this gene are associated with Ehlers-Danlos syndrome types IV, and with aortic and arterial aneurysms. Two transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","DGKI","chr7",137237236,137237236,"NM_004717","G","A","missense","SNM","NA","NA","NA","c.2026C>T","p.P676S","NA",0.335135,185,0,160,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","diacylglycerol kinase iota","DGK-IOTA","This gene is a member of the type IV diacylglycerol kinase subfamily.  Diacylglycerol kinases regulate the intracellular concentration of diacylglycerol through its phosphorylation, producing phosphatidic acid.  The specific role of the enzyme encoded by this gene is undetermined, however, it may play a crucial role in the production of phosphatidic acid in the retina or in recessive forms of retinal degeneration. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","DOPEY2","chr21",37617353,37617353,"NM_005128","G","T","missense","SNM","NA","NA","NA","c.3075G>T","p.L1025F","NA",0.555556,27,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","DOP1 leucine zipper like protein B","21orf5, C21orf5, DOPEY2",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM135B","chr8",139144969,139144969,"NM_015912","C","A","missense","SNM","NA","NA","NA","c.4088G>T","p.R1363L","NA",0.290909,55,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","family with sequence similarity 135 member B","C8ORFK32",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","FRMPD1","chr9",37745892,37745892,"NM_014907","G","T","missense","SNM","NA","NA","NA","c.3863G>T","p.C1288F","NA",0.413793,145,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","FERM and PDZ domain containing 1","FRMD2",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","GATAD1","chr7",92083913,92083913,"NM_021167","A","T","missense","SNM","NA","NA","NA","c.533A>T","p.Y178F","NA",0.380117,171,0,162,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","GATA zinc finger domain containing 1","CMD2B, ODAG, RG083M05.2","The protein encoded by this gene contains a zinc finger at the N-terminus, and is thought to bind to a histone modification site that regulates gene expression. Mutations in this gene have been associated with autosomal recessive dilated cardiomyopathy. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2012]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","GPR61","chr1",110085733,110085733,"NM_031936","G","A","missense","SNM","NA","NA","NA","c.89G>A","p.G30E","NA",0.588235,51,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G protein-coupled receptor 61","BALGR, GPCR3","This gene belongs to the G-protein coupled receptor 1 family. G protein-coupled receptors contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. The protein encoded by this gene is most closely related to biogenic amine receptors. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","GPRC6A","chr6",117114011,117114011,"NM_148963","G","T","missense","SNM","NA","NA","NA","c.2075C>A","p.P692H","NA",0.358209,67,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G protein-coupled receptor, family C, group 6, member A",null,null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","GRM7","chr3",7620800,7620800,"NM_181874","A","G","missense","SNM","NA","NA","NA","c.2207A>G","p.K736R","NA",0.672414,58,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","glutamate receptor, metabotropic 7","6330570A01Rik, BB176677, C030018L03, E130018M02Rik, Gpr1g, Gprc1g, SMN2, Tg(SMN2)89Ahmb, mGluR7",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","HGD","chr3",120347355,120347355,"NM_000187","A","C","missense","SNM","NA","NA","NA","c.1210T>G","p.L404V","NA",0.598039,101,0,146,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","homogentisate 1,2-dioxygenase","AKU, HGO","This gene encodes the enzyme homogentisate 1,2 dioxygenase. This enzyme is involved in the catabolism of the amino acids tyrosine and phenylalanine. Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria.[provided by RefSeq, May 2010]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","IL4R","chr16",27370318,27370318,"NM_000418","A","G","splicing","SNM","NA","NA","NA","c.849_splice","e7+3","NA",0.461538,39,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","interleukin 4 receptor","CD124, IL-4RA, IL4RA","This gene encodes the alpha chain of the interleukin-4 receptor, a type I transmembrane protein that can bind interleukin 4 and interleukin 13 to regulate IgE production. The encoded protein also can bind interleukin 4 to promote differentiation of Th2 cells. A soluble form of the encoded protein can be produced by proteolysis of the membrane-bound protein, and this soluble form can inhibit IL4-mediated cell proliferation and IL5 upregulation by T-cells. Allelic variations in this gene have been associated with atopy, a condition that can manifest itself as allergic rhinitis, sinusitus, asthma, or eczema. Polymorphisms in this gene are also associated with resistance to human immunodeficiency virus type-1 infection. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","KCNK10","chr14",88652393,88652393,"NM_138318","C","A","missense","SNM","NA","NA","NA","c.1118G>T","p.R373L","NA",0.375,48,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","potassium two pore domain channel subfamily K member 10","TREK2","tandem-pore K(+) channel that is a mechanosensitive and fatty acid-stimulated K(+) channel [RGD, Feb 2006]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","KIAA0528","chr12",22646206,22646206,"NM_014802","C","T","missense","SNM","NA","NA","NA","c.1213G>A","p.A405T","NA",0.421053,152,0,154,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","KIAA0528 ortholog",null,null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","LAMP2","chrX",119589407,119589407,"NM_001122606","C","G","missense","SNM","NA","NA","NA","c.202G>C","p.D68H","NA",0.811594,69,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","lysosomal associated membrane protein 2","CD107b, LAMP-2, LAMPB, LGP-96, LGP110","The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","LYST","chr1",235972653,235972653,"NM_000081","C","T","missense","SNM","NA","NA","NA","c.1465G>A","p.E489K","NA",0.27381,168,0,127,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","lysosomal trafficking regulator","D13Sfk13, beige, bg",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","MAPKAPK3","chr3",50681939,50681939,"NM_004635","C","G","missense","SNM","NA","NA","NA","c.604C>G","p.P202A","NA",0.636364,44,0,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","mitogen-activated protein kinase-activated protein kinase 3","3PK, MAPKAP-K3, MAPKAP3, MAPKAPK-3, MDPT3, MK-3","This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","NEDD1","chr12",97338549,97338549,"NM_001135175","C","T","missense","SNM","NA","NA","NA","c.1651C>T","p.P551S","NA",0.301075,93,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neural precursor cell expressed, developmentally down-regulated 1","GCP-WD, TUBGCP7",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","NRP1","chr10",33552784,33552784,"NM_003873","T","C","missense","SNM","NA","NA","NA","c.448A>G","p.N150D","NA",0.352679,224,0,212,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neuropilin 1","BDCA4, CD304, NP1, NRP, VEGF165R","This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR2L8","chr1",248112699,248112699,"NM_001001963","C","-","frameshift deletion","DEL","NA","NA","NA","c.540delC","p.V180fs","NA",0.395745,235,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 2 subfamily L member 8 (gene/pseudogene)",null,"Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR5B2","chr11",58190347,58190347,"NM_001005566","A","G","missense","SNM","NA","NA","NA","c.388T>C","p.Y130H","NA",0.416667,120,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 5 subfamily B member 2","OR11-240, OST073","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR6K6","chr1",158724940,158724940,"NM_001005184","G","T","missense","SNM","NA","NA","NA","c.335G>T","p.C112F","NA",0.321429,56,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 6 subfamily K member 6","OR1-21","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","PCDHAC1","chr5",140307886,140307886,"NM_018898","A","T","missense","SNM","NA","NA","NA","c.1409A>T","p.Q470L","NA",0.662921,89,0,131,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","protocadherin alpha subfamily C, 1","PCDH-ALPHA-C1","This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha gene cluster is composed of 15 cadherin superfamily genes related to the mouse CNR genes and consists of 13 highly similar and 2 more distantly related coding sequences. The tandem array of 15 N-terminal exons, or variable exons, are followed by downstream C-terminal exons, or constant exons, which are shared by all genes in the cluster. The large, uninterrupted N-terminal exons each encode six cadherin ectodomains while the C-terminal exons encode the cytoplasmic domain. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins that most likely play a critical role in the establishment and function of specific cell-cell connections in the brain. Alternative splicing has been observed and additional variants have been suggested but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","PRICKLE1","chr12",42853748,42853748,"NM_153026","G","A","missense","SNM","NA","NA","NA","c.2359C>T","p.R787W","NA",0.357143,140,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","prickle planar cell polarity protein 1","EPM1B, RILP","This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/NRSF and REST4. Mutations in this gene have been linked to progressive myoclonus epilepsy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Sep 2009]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","PRX","chr19",40899932,40899932,"NM_181882","A","-","frameshift deletion","DEL","NA","NA","NA","c.4327delT","p.S1443fs","NA",0.660377,53,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","periaxin","CMT4F","This gene encodes a protein involved in peripheral nerve myelin upkeep. The encoded protein contains 2 PDZ domains which were named after PSD95 (post synaptic density protein), DlgA (Drosophila disc large tumor suppressor), and ZO1 (a mammalian tight junction protein). Two alternatively spliced transcript variants have been described for this gene which encode different protein isoforms and which are targeted differently in the Schwann cell. Mutations in this gene cause Charcot-Marie-Tooth neuoropathy, type 4F and Dejerine-Sottas neuropathy. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","RBFOX1","chr16",7759108,7759108,"NM_145891","C","-","frameshift deletion","DEL","NA","NA","NA","c.1109delC","p.A370fs","NA",0.322581,124,0,117,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","RNA binding fox-1 homolog 1","2BP1, A2BP1, FOX-1, FOX1, HRNBP1","The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","SAMD7","chr3",169644807,169644807,"NM_182610","G","T","stopgain","SNM","NA","NA","NA","c.757G>T","p.G253*","NA",0.653846,52,0,130,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","sterile alpha motif domain containing 7","4930597A01Rik",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC2A12","chr6",134350557,134350557,"NM_145176","C","T","missense","SNM","NA","NA","NA","c.406G>A","p.G136R","NA",0.327103,106,0,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 2 member 12","GLUT12, GLUT8","SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC8A1","chr2",40656142,40656143,"NM_021097","GG","TT","missense","DNM","NA","NA","NA","c.1278_1279delinsAA","p.L427I","NA",0.527778,36,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 8 member A1","NCX1","In cardiac myocytes, Ca(2+) concentrations alternate between high levels during contraction and low levels during relaxation. The increase in Ca(2+) concentration during contraction is primarily due to release of Ca(2+) from intracellular stores. However, some Ca(2+) also enters the cell through the sarcolemma (plasma membrane). During relaxation, Ca(2+) is sequestered within the intracellular stores. To prevent overloading of intracellular stores, the Ca(2+) that entered across the sarcolemma must be extruded from the cell. The Na(+)-Ca(2+) exchanger is the primary mechanism by which the Ca(2+) is extruded from the cell during relaxation. In the heart, the exchanger may play a key role in digitalis action. The exchanger is the dominant mechanism in returning the cardiac myocyte to its resting state following excitation.[supplied by OMIM, Apr 2004]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","SNX25","chr4",186180219,186180219,"NM_031953","G","C","splicing","SNM","NA","NA","NA","c.239_splice","e2+1","NA",0.311927,109,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","sorting nexin 25","MSTP043, SBBI31",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","STK11","chr19",1220400,1220400,"NM_000455","G","T","stopgain","SNM","NA","NA","NA","c.493G>T","p.E165*","NA",0.631579,19,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","TMX2","chr11",57480134,57480134,"NM_015959","C","T","missense","SNM","NA","NA","NA","c.44C>T","p.P15L","NA",0.290323,62,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","thioredoxin related transmembrane protein 2","CGI-31, PDIA12, PIG26, TXNDC14","This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","TNFAIP3","chr6",138202185,138202185,"NM_006290","G","A","missense","SNM","NA","NA","NA","c.2102G>A","p.R701H","NA",0.269565,115,0,126,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TNF alpha induced protein 3","A20, AISBL, OTUD7C, TNFA1P2","This gene was identified as a gene whose expression is rapidly induced by the tumor necrosis factor (TNF). The protein encoded by this gene is a zinc finger protein and ubiqitin-editing enzyme, and has been shown to inhibit NF-kappa B activation as well as TNF-mediated apoptosis. The encoded protein, which has both ubiquitin ligase and deubiquitinase activities, is involved in the cytokine-mediated immune and inflammatory responses. Several transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2012]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","UGT2B11","chr4",70066307,70066308,"NM_001073","GG","TT","missense","DNM","NA","NA","NA","c.1440_1441delinsAA","p.H481N","NA",0.392857,182,0.00564972,176,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","UDP glucuronosyltransferase family 2 member B11",null,null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","VCL","chr10",75849851,75849851,"NM_014000","G","A","missense","SNM","NA","NA","NA","c.1247G>A","p.R416Q","NA",0.431655,139,0,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","vinculin","CMD1W, CMH15, HEL114, MV, MVCL","Vinculin is a cytoskeletal protein associated with cell-cell and cell-matrix junctions, where it is thought to function as one of several interacting proteins involved in anchoring F-actin to the membrane. Defects in VCL are the cause of cardiomyopathy dilated type 1W. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF267","chr16",31896502,31896502,"NM_003414","G","T","missense","SNM","NA","NA","NA","c.151G>T","p.D51Y","NA",0.5,24,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 267","HZF2",null,"NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF498","chr7",99217525,99217525,"NM_145115","A","T","missense","SNM","NA","NA","NA","c.296A>T","p.Y99F","NA",0.376344,92,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger and SCAN domain containing 25","ZNF498","This gene encodes a protein that bears some similarity to zinc finger proteins, which are involved in DNA binding and protein-protein interactions. Multiple alternatively spliced transcript variants have been identified, but the full-length nature for most of them has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF91","chr19",23544198,23544198,"NM_003430","C","A","missense","SNM","NA","NA","NA","c.1583G>T","p.R528I","NA",0.725,40,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 91","HPF7, HTF10","The ZNF91 gene encodes a zinc finger protein of the KRAB (Kruppel-associated box) subfamily (Bellefroid et al., 1991, 1993 [PubMed 2023909] [PubMed 8467795]).[supplied by OMIM, May 2010]","NA"]
["S01318","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZSCAN21","chr7",99661854,99661854,"NM_145914","G","C","missense","SNM","NA","NA","NA","c.1036G>C","p.D346H","NA",0.383838,99,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger and SCAN domain containing 21","AI326272, CTfin51, RU49, Zfp-38, Zfp38, Zipro1",null,"NA"]
["S01407","LCNEC","NA","LCNEC","yes","NA","NA","NA","COQ7","chr16",19083306,19083306,"NM_016138","A","G","missense","SNM","NA","NA","NA","c.130A>G","p.I44V","NA",0.456,249,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","demethyl-Q 7","clk-1",null,"NA"]
["S01407","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM98C","chr19",38899430,38899430,"NM_174905","A","T","missense","SNM","NA","NA","NA","c.958A>T","p.N320Y","NA",0.52439,82,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 98, member C","1110006G06Rik, AI836081, AV026483, B230110F21Rik",null,"NA"]
["S01407","LCNEC","NA","LCNEC","yes","NA","NA","NA","KDM1A","chr1",23405609,23405609,"NM_001009999","C","A","missense","SNM","NA","NA","NA","c.1994C>A","p.P665Q","NA",0.220183,109,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine demethylase 1A","AOF2, BHC110, CPRF, KDM1, LSD1","This gene encodes a nuclear protein containing a SWIRM domain, a FAD-binding motif, and an amine oxidase domain. This protein is a component of several histone deacetylase complexes, though it silences genes by functioning as a histone demethylase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]","Demeth"]
["S01407","LCNEC","NA","LCNEC","yes","NA","NA","NA","PCNX","chr14",71576229,71576229,"NM_014982","T","C","missense","SNM","NA","NA","NA","c.6805T>C","p.W2269R","NA",0.517241,58,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pecanex homolog","2900024E21Rik, 3526401J03Rik, AF096286, AI327143, AI413187, Pcnx1, Pcnxl1",null,"NA"]
["S01407","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAI14","chr5",34824282,34824282,"NM_001145525","A","G","missense","SNM","NA","NA","NA","c.2344A>G","p.M782V","NA",0.195876,194,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","retinoic acid induced 14","NORPEG, RAI13",null,"NA"]
["S01407","LCNEC","NA","LCNEC","yes","NA","NA","NA","SORD","chr15",45357491,45357491,"NM_003104","G","A","missense","SNM","NA","NA","NA","c.448G>A","p.E150K","NA",0.202703,148,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sorbitol dehydrogenase","HEL-S-95n, SORD1","Sorbitol dehydrogenase (SORD; EC 1.1.1.14) catalyzes the interconversion of polyols and their corresponding ketoses, and together with aldose reductase (ALDR1; MIM 103880), makes up the sorbitol pathway that is believed to play an important role in the development of diabetic complications (summarized by Carr and Markham, 1995 [PubMed 8535074]). The first reaction of the pathway (also called the polyol pathway) is the reduction of glucose to sorbitol by ALDR1 with NADPH as the cofactor. SORD then oxidizes the sorbitol to fructose using NAD(+) cofactor.[supplied by OMIM, Jul 2010]","NA"]
["S01407","LCNEC","NA","LCNEC","yes","NA","NA","NA","TSPAN14","chr10",82267077,82267077,"NM_030927","G","T","missense","SNM","NA","NA","NA","c.226G>T","p.G76W","NA",0.308943,369,0.00420168,238,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tetraspanin 14","DC-TM4F2, TM4SF14",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","A1CF","chr10",52575920,52575920,"NM_001198819","G","T","stopgain","SNM","NA","NA","NA","c.1011C>A","p.Y337*","NA",0.395425,306,0.00469484,213,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","APOBEC1 complementation factor","1810073H04Rik, 9130016M20Rik, ACF64, ACF65, ASP, Acf, MCM, MerCreMer, Tg(Myh6-cre/Esr1*)1Jmk, alpha-MHC-MerCreMer, alphaMHC-Cre-Mer-Cre, mer",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ABR","chr17",1028553,1028553,"NM_021962","C","A","missense","SNM","NA","NA","NA","c.211G>T","p.V71F","NA",0.245098,102,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ABR, RhoGEF and GTPase activating protein","MDB","This gene encodes a protein that is similar to the protein encoded by the breakpoint cluster region gene located on chromosome 22. The protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. Functional studies in mice determined that this protein plays a role in vestibular morphogenesis. Alternatively spliced transcript variants have been reported for this gene. [provided by RefSeq, Feb 2012]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ADAM21","chr14",70926266,70926266,"NM_003813","T","A","missense","SNM","NA","NA","NA","c.2050T>A","p.L684M","NA",0.397959,98,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","a disintegrin and metallopeptidase domain 21","Adam31","This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional metalloprotease enzyme. The encoded protein functions in the regulation of spermatogenesis in the testes and neurogenesis in the central nervous system. [provided by RefSeq, May 2016]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ADAMTS5","chr21",28338086,28338086,"NM_007038","A","T","missense","SNM","NA","NA","NA","c.625T>A","p.C209S","NA",0.397059,68,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 5","ADAM-TS 11, ADAM-TS 5, ADAM-TS5, ADAMTS-11, ADAMTS-5, ADAMTS11, ADMP-2","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature enzyme. This enzyme contains two C-terminal TS motifs and functions as an aggrecanase that cleaves aggrecan, a major proteoglycan of cartilage, and may mediate cartilage destruction in osteoarthritis. [provided by RefSeq, Feb 2016]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","AIM2","chr1",159036001,159036001,"NM_004833","C","A","missense","SNM","NA","NA","NA","c.515G>T","p.G172V","NA",0.19403,67,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","absent in melanoma 2","PYHIN4"," AIM2 is a member of the IFI20X /IFI16 family.  It plays a putative role in tumorigenic reversion and may control cell proliferation.  Interferon-gamma induces expression of AIM2. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","APBA1","chr9",72091004,72091004,"NM_001163","A","C","missense","SNM","NA","NA","NA","c.1256T>G","p.L419R","NA",0.276596,47,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","amyloid beta precursor protein binding family A member 1","D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA","The protein encoded by this gene is a member of the X11 protein family. It is a neuronal adapter protein that interacts with the Alzheimer's disease amyloid precursor protein (APP). It stabilizes APP and inhibits production of proteolytic APP fragments including the A beta peptide that is deposited in the brains of Alzheimer's disease patients. This gene product is believed to be involved in signal transduction processes. It is also regarded as a putative vesicular trafficking protein in the brain that can form a complex with the potential to couple synaptic vesicle exocytosis to neuronal cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ARHGAP12","chr10",32103216,32103216,"NM_018287","T","-","frameshift deletion","DEL","NA","NA","NA","c.1805delA","p.K602fs","NA",0.2,395,0,99,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Rho GTPase activating protein 12",null,"This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ATAD5","chr17",29184006,29184006,"NM_024857","G","C","missense","SNM","NA","NA","NA","c.2669G>C","p.C890S","NA",0.161905,105,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ATPase family, AAA domain containing 5","C17orf41, ELG1, FRAG1",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","BCL9","chr1",147092185,147092185,"NM_004326","G","A","missense","SNM","NA","NA","NA","c.2224G>A","p.A742T","NA",0.233766,77,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","B cell CLL/lymphoma 9","LGS","BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","BLVRA","chr7",43832330,43832330,"NM_000712","G","T","missense","SNM","NA","NA","NA","c.271G>T","p.G91C","NA",0.245763,118,0.0240964,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","biliverdin reductase A","BLVR, BVR, BVRA","The protein encoded by this gene belongs to the biliverdin reductase family, members of which catalyze the conversion of biliverdin to bilirubin in the presence of NADPH or NADH. Mutations in this gene are associated with hyperbiliverdinemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2011]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","C12orf74","chr12",93100848,93100848,"NM_001037671","G","T","missense","SNM","NA","NA","NA","c.441G>T","p.Q147H","NA",0.215054,93,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chromosome 12 open reading frame 74",null,null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","C6orf97","chr6",151859387,151859387,"NM_025059","G","T","stopgain","SNM","NA","NA","NA","c.394G>T","p.E132*","NA",0.28,25,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","coiled-coil domain containing 170","C6orf97, bA282P11.1","The function of this gene and its encoded protein is not known. Several genome-wide association studies have implicated the region around this gene to be involved in breast cancer and bone mineral density, but no link to this specific gene has been found. [provided by RefSeq, May 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CACNA1F","chrX",49074425,49074425,"NM_005183","C","T","missense","SNM","NA","NA","NA","c.3001G>A","p.G1001R","NA",0.300353,283,0,151,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","calcium voltage-gated channel subunit alpha1 F","AIED, COD3, COD4, CORDX, CORDX3, CSNB2, CSNB2A, CSNBX2, Cav1.4, Cav1.4alpha1, JM8, JMC8, OA2","This gene encodes a multipass transmembrane protein that functions as an alpha-1 subunit of the voltage-dependent calcium channel, which mediates the influx of calcium ions into the cell. The encoded protein forms a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Mutations in this gene can cause X-linked eye disorders, including congenital stationary night blindness type 2A, cone-rod dystropy, and Aland Island eye disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Aug 2013]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CASQ1","chr1",160160665,160160665,"NM_001231","G","T","stopgain","SNM","NA","NA","NA","c.124G>T","p.E42*","NA",0.225806,93,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","calsequestrin 1","CASQ, PDIB1, VMCQA","This gene encodes the skeletal muscle specific member of the calsequestrin protein family. Calsequestrin functions as a luminal sarcoplasmic reticulum calcium sensor in both cardiac and skeletal muscle cells. This protein, also known as calmitine, functions as a calcium regulator in the mitochondria of skeletal muscle. This protein is absent in patients with Duchenne and Becker types of muscular dystrophy. [provided by RefSeq, Jun 2013]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CASS4","chr20",55025729,55025729,"NM_020356","A","T","missense","SNM","NA","NA","NA","c.636A>T","p.Q212H","NA",0.232877,146,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Cas scaffold protein family member 4","C20orf32, CAS4, HEFL, HEPL",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CCS","chr11",66366589,66366589,"NM_005125","G","T","missense","SNM","NA","NA","NA","c.115G>T","p.V39F","NA",0.151852,270,0.0122699,163,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","copper chaperone for superoxide dismutase",null,"Copper chaperone for superoxide dismutase specifically delivers Cu to copper/zinc superoxide dismutase and may activate copper/zinc superoxide dismutase through direct insertion of the Cu cofactor. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CHRNA3","chr15",78909418,78909418,"NM_000743","T","C","missense","SNM","NA","NA","NA","c.325A>G","p.M109V","NA",0.248322,149,0,144,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cholinergic receptor nicotinic alpha 3 subunit","LNCR2, NACHRA3, PAOD2","This locus encodes a member of the nicotinic acetylcholine receptor family of proteins. Members of this family of proteins form pentameric complexes comprised of both alpha and beta subunits. This locus encodes an alpha-type subunit, as it contains characteristic adjacent cysteine residues. The encoded protein is a ligand-gated ion channel that likely plays a role in neurotransmission. Polymorphisms in this gene have been associated with an increased risk of smoking initiation and an increased susceptibility to lung cancer. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CHRNA6","chr8",42614245,42614245,"NM_004198","G","C","missense","SNM","NA","NA","NA","c.231C>G","p.N77K","NA",0.175141,176,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cholinergic receptor nicotinic alpha 6 subunit","CHNRA6","This gene encodes an alpha subunit of neuronal nicotinic acetylcholine receptors. These receptors consist of five subunits and function as ion channels involved in neurotransmission. The encoded protein is a subunit of neuronal nicotinic acetylcholine receptors that mediate dopaminergic neurotransmission and are activated by acetylcholine and exogenous nicotine. Alternatively spliced transcript variants have been observed for this gene. Single nucleotide polymorphisms in this gene have been associated with both nicotine and alcohol dependence. [provided by RefSeq, Dec 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CMAS","chr12",22214312,22214312,"NM_018686","G","T","missense","SNM","NA","NA","NA","c.886G>T","p.D296Y","NA",0.311111,45,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cytidine monophospho-N-acetylneuraminic acid synthetase","AW208911, CMPNeu5Ac, D6Bwg0250e",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CRLF1","chr19",18709686,18709686,"NM_004750","G","-","frameshift deletion","DEL","NA","NA","NA","c.423delC","p.I141fs","NA",0.55642,257,0,177,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cytokine receptor like factor 1","CISS, CISS1, CLF, CLF-1, NR6, zcytor5","This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells. Mutations in this gene result in Crisponi syndrome and cold-induced sweating syndrome. [provided by RefSeq, Oct 2009]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","CXCR2","chr2",219000276,219000276,"NM_001168298","G","T","missense","SNM","NA","NA","NA","c.752G>T","p.R251L","NA",0.214286,210,0,146,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","C-X-C motif chemokine receptor 2","CD182, CDw128b, CMKAR2, IL8R2, IL8RA, IL8RB","The protein encoded by this gene is a member of the G-protein-coupled receptor family. This protein is a receptor for interleukin 8 (IL8). It binds to IL8 with high affinity, and transduces the signal through a G-protein activated second messenger system. This receptor also binds to chemokine (C-X-C motif) ligand 1 (CXCL1/MGSA), a protein with melanoma growth stimulating activity, and has been shown to be a major component required for serum-dependent melanoma cell growth. This receptor mediates neutrophil migration to sites of inflammation. The angiogenic effects of IL8 in intestinal microvascular endothelial cells are found to be mediated by this receptor. Knockout studies in mice suggested that this receptor controls the positioning of oligodendrocyte precursors in developing spinal cord by arresting their migration. This gene, IL8RA, a gene encoding another high affinity IL8 receptor, as well as IL8RBP, a pseudogene of IL8RB, form a gene cluster in a region mapped to chromosome 2q33-q36. Alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2009]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","DCLK1","chr13",36428686,36428686,"NM_004734","T","A","stopgain","SNM","NA","NA","NA","c.985A>T","p.K329*","NA",0.241379,58,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","doublecortin like kinase 1","CL1, CLICK1, DCAMKL1, DCDC3A, DCLK","This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","DDX31","chr9",135521281,135521281,"NM_022779","C","A","splicing","SNM","NA","NA","NA","c.1695_splice","e14+1","NA",0.257143,105,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","DEAD-box helicase 31","PPP1R25","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. The function of this member has not been determined. Alternative splicing of this gene generates multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2016]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","DNAH5","chr5",13716615,13716615,"NM_001369","T","C","missense","SNM","NA","NA","NA","c.12890A>G","p.N4297S","NA",0.204918,122,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","dynein axonemal heavy chain 5","CILD3, DNAHC5, HL1, KTGNR, PCD","This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","DOCK2","chr5",169081485,169081485,"NM_004946","G","T","missense","SNM","NA","NA","NA","c.122G>T","p.C41F","NA",0.234375,64,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","dedicator of cytokinesis 2","IMD40","The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","DPEP1","chr16",89704575,89704575,"NM_004413","G","-","frameshift deletion","DEL","NA","NA","NA","c.1181delG","p.W394fs","NA",0.155556,135,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","dipeptidase 1","MBD1, MDP, RDP","The protein encoded by this gene is a kidney membrane enzyme involved in the metabolism of glutathione and other similar proteins by dipeptide hydrolysis. The encoded protein is known to regulate leukotriene activity by catalyzing the conversion of leukotriene D4 to leukotriene E4. This protein uses zinc as a cofactor and acts as a disulfide-linked homodimer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2012]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","EDIL3","chr5",83356274,83356274,"NM_005711","C","A","stopgain","SNM","NA","NA","NA","c.982G>T","p.G328*","NA",0.202703,74,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","EGF-like repeats and discoidin I-like domains 3","Del-1, Del1, Sox2-cre, Sox2Cre, Tg(Sox2-cre)1Amc",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ETV3L","chr1",157069304,157069304,"NM_001004341","G","C","missense","SNM","NA","NA","NA","c.12C>G","p.S4R","NA",0.100775,129,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ETS variant 3 like",null,null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM114A2","chr5",153390837,153390837,"NM_018691","C","A","missense","SNM","NA","NA","NA","c.957G>T","p.Q319H","NA",0.320513,78,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","family with sequence similarity 114 member A2","133K02, C5orf3",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM82B","chr8",87491204,87491204,"NM_016033","C","A","missense","SNM","NA","NA","NA","c.677G>T","p.R226I","NA",0.339181,171,0,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","regulator of microtubule dynamics 1","FAM82B",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM9B","chrX",9001026,9001026,"NM_205849","A","G","missense","SNM","NA","NA","NA","c.2T>C","p.M1T","NA",0.273743,178,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","family with sequence similarity 9 member B","TEX39B","This gene is a member of a gene family which arose through duplication on the X chromosome. The encoded protein may be localized to the nucleus as the protein contains several nuclear localization signals, and has similarity to a synaptonemal complex protein. [provided by RefSeq, Aug 2011]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","FCRL3","chr1",157665367,157665367,"NM_052939","C","G","missense","SNM","NA","NA","NA","c.1163G>C","p.R388T","NA",0.291139,79,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Fc receptor like 3","CD307c, FCRH3, IFGP3, IRTA3, SPAP2","This gene encodes a member of the immunoglobulin receptor superfamily and is one of several Fc receptor-like glycoproteins clustered on the long arm of chromosome 1. The encoded protein contains immunoreceptor-tyrosine activation motifs and immunoreceptor-tyrosine inhibitory motifs in its cytoplasmic domain and may play a role in regulation of the immune system. Mutations in this gene have been associated with rheumatoid arthritis, autoimmune thyroid disease, and systemic lupus erythematosus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","FOXR2","chrX",55650554,55650554,"NM_198451","A","C","missense","SNM","NA","NA","NA","c.410A>C","p.E137A","NA",0.3625,80,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","forkhead box R2","FOXN6",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","GABRG2","chr5",161569244,161569244,"NM_198903","C","A","missense","SNM","NA","NA","NA","c.964C>A","p.P322T","NA",0.517647,170,0,129,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","gamma-aminobutyric acid type A receptor gamma2 subunit","CAE2, ECA2, GEFSP3","This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","GDF2","chr10",48414404,48414404,"NM_016204","G","T","missense","SNM","NA","NA","NA","c.464C>A","p.S155Y","NA",0.277778,90,0.0163934,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","growth differentiation factor 2","BMP-9, BMP9, HHT5","This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein regulates cartilage and bone development, angiogenesis and differentiation of cholinergic central nervous system neurons. Mutations in this gene are associated with hereditary hemorrhagic telangiectasia. [provided by RefSeq, Jul 2016]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","GOLGB1","chr3",121435869,121435869,"NM_004487","C","A","stopgain","SNM","NA","NA","NA","c.988G>T","p.E330*","NA",0.215385,65,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","golgin B1","GCP, GCP372, GOLIM1",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","GPR112","chrX",135405308,135405308,"NM_153834","C","A","missense","SNM","NA","NA","NA","c.442C>A","p.Q148K","NA",0.156863,102,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G protein-coupled receptor 112",null,null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","GRHL3","chr1",24663067,24663067,"NM_198174","C","A","missense","SNM","NA","NA","NA","c.362C>A","p.P121Q","NA",0.211538,52,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","grainyhead like transcription factor 3","AI561912, Get1, Som, Tfcp2l4, ct",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","GRIN2B","chr12",13768089,13768089,"NM_000834","A","T","missense","SNM","NA","NA","NA","c.1613T>A","p.V538E","NA",0.212454,273,0,178,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","glutamate ionotropic receptor NMDA type subunit 2B","GluN2B","subunit of the NMDA receptor glutamate gated ion channel; displays voltage dependent sensitivity to magnesium, calcium permeability, and glycine regulated activity; may facilitate learning and long term potentiation [RGD, Feb 2006]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","GTDC1","chr2",144903151,144903151,"NM_001164629","T","C","missense","SNM","NA","NA","NA","c.335A>G","p.Q112R","NA",0.234375,64,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","glycosyltransferase like domain containing 1","Hmat-Xa, mat-Xa",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","HMHB1","chr5",143200104,143200104,"NM_021182","C","A","missense","SNM","NA","NA","NA","c.97C>A","p.H33N","NA",0.234694,196,0,161,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","histocompatibility minor HB-1","HB-1, HB-1Y, HLA-HB1","This gene encodes one of the minor histocompatibility antigens, which play an important role in the induction of cytotoxic T lymphocyte (CTL) reactivity against leukemia after human histocompatibility leukocyte antigen (HLA)-identical allogeneic bone marrow transplantation (BMT). This gene is only expressed in B cell acute lymphoblastic leukemia cells and Epstein-Barr virus-transformed B cells. The translation of this mRNA initiates at a non-AUG (CUG) codon. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","HTR1B","chr6",78173105,78173105,"NM_000863","-","A","frameshift insertion","INS","NA","NA","NA","c.16_17insT","p.A6fs","NA",0.326531,98,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","5-hydroxytryptamine receptor 1B","5-HT-1B, 5-HT-1D-beta, 5-HT1B, 5-HT1DB, HTR1D2, HTR1DB, S12","The protein encoded by this intronless gene is a G-protein coupled receptor for serotonin (5-hydroxytryptamine). Ligand binding activates second messengers that inhibit the activity of adenylate cyclase and manage the release of serotonin, dopamine, and acetylcholine in the brain. The encoded protein may be involved in several neuropsychiatric disorders and therefore is often a target of antidepressant and other psychotherapeutic drugs. [provided by RefSeq, Nov 2015]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","IFI16","chr1",159002383,159002383,"NM_001206567","C","G","missense","SNM","NA","NA","NA","c.1063C>G","p.L355V","NA",0.336634,100,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","interferon gamma inducible protein 16","IFNGIP1, PYHIN2","This gene encodes a member of the HIN-200 (hematopoietic interferon-inducible nuclear antigens with 200 amino acid repeats) family of cytokines. The encoded protein contains domains involved in DNA binding, transcriptional regulation, and protein-protein interactions. The protein localizes to the nucleoplasm and nucleoli, and interacts with p53 and retinoblastoma-1. It modulates p53 function, and inhibits cell growth in the Ras/Raf signaling pathway. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ITIH6","chrX",54784093,54784093,"NM_198510","A","T","missense","SNM","NA","NA","NA","c.2414T>A","p.L805Q","NA",0.375,184,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","inter-alpha-trypsin inhibitor heavy chain family member 6","ITIH5L, UNQ6369, dJ14O9.1","The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","KARS","chr16",75665743,75665745,"NM_001130089","ACC","-","frameshift deletion","DEL","NA","NA","NA","c.1008_1010delGGT","p.V336del","NA",0.382979,188,0,108,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","lysyl-tRNA synthetase","CMTRIB, DFNB89, KARS1, KARS2, KRS","Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. Lysyl-tRNA synthetase is a homodimer localized to the cytoplasm which belongs to the class II family of tRNA synthetases. It has been shown to be a target of autoantibodies in the human autoimmune diseases, polymyositis or dermatomyositis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","KCNMB1","chr5",169805957,169805957,"NM_004137","G","T","missense","SNM","NA","NA","NA","c.327C>A","p.S109R","NA",0.234375,128,0.0235294,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","potassium calcium-activated channel subfamily M regulatory beta subunit 1","BKbeta1, K(VCA)beta, SLO-BETA, hbeta1, hslo-beta, k(VCA)beta-1, slo-beta-1","MaxiK channels are large conductance, voltage and calcium-sensitive potassium channels which are fundamental to the control of smooth muscle tone and neuronal excitability. MaxiK channels can be formed by 2 subunits: the pore-forming alpha subunit and the product of this gene, the modulatory beta subunit. Intracellular calcium regulates the physical association between the alpha and beta subunits. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","KCNN4","chr19",44273922,44273922,"NM_002250","C","A","missense","SNM","NA","NA","NA","c.879G>T","p.K293N","NA",0.25,192,0,176,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","potassium calcium-activated channel subfamily N member 4","DHS2, IK, IK1, IKCA1, KCA4, KCa3.1, SK4, hIKCa1, hKCa4, hSK4","The protein encoded by this gene is part of a potentially heterotetrameric voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization, which promotes calcium influx. The encoded protein may be part of the predominant calcium-activated potassium channel in T-lymphocytes. This gene is similar to other KCNN family potassium channel genes, but it differs enough to possibly be considered as part of a new subfamily. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","KIT","chr4",55565900,55565900,"NM_000222","G","A","missense","SNM","NA","NA","NA","c.724G>A","p.V242M","NA",0.130653,199,0,128,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","KIT proto-oncogene receptor tyrosine kinase","C-Kit, CD117, MASTC, PBT, SCFR","This gene encodes the human homolog of the proto-oncogene c-kit. C-kit was first identified as the cellular homolog of the feline sarcoma viral oncogene v-kit. This protein is a type 3 transmembrane receptor for MGF (mast cell growth factor, also known as stem cell factor). Mutations in this gene are associated with gastrointestinal stromal tumors, mast cell disease, acute myelogenous lukemia, and piebaldism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","LAP3","chr4",17590564,17590564,"NM_015907","C","T","missense","SNM","NA","NA","NA","c.827C>T","p.P276L","NA",0.654545,55,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","leucine aminopeptidase 3","HEL-S-106, LAP, LAPEP, PEPS",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","LILRA3","chr19",54802000,54802001,"NM_006865","CC","AA","missense","DNM","NA","NA","NA","c.1187_1188delinsTT","p.R396I","NA",0.417588,136,0,113,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","leukocyte immunoglobulin like receptor A3","CD85E, HM31, HM43, ILT-6, ILT6, LIR-4, LIR4","This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","LONRF2","chr2",100915336,100915336,"NM_198461","C","T","missense","SNM","NA","NA","NA","c.1438G>A","p.A480T","NA",0.210526,152,0,111,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","LON peptidase N-terminal domain and ring finger 2","RNF192",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","LRRK1","chr15",101598271,101598271,"NM_024652","G","T","missense","SNM","NA","NA","NA","c.4604G>T","p.G1535V","NA",0.151724,145,0,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","leucine rich repeat kinase 1","RIPK6, Roco1","This gene encodes a multi-domain protein that is a leucine-rich repeat kinase and a GDP/GTP binding protein. The encoded protein is thought to play a role in the regulation of bone mass. Mice lacking a similar gene showed severe osteopetrosis, increased bone mineralization and decreased bone resorption. [provided by RefSeq, Jan 2017]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","MAP3K15","chrX",19416429,19416429,"NM_001001671","C","A","missense","SNM","NA","NA","NA","c.1981G>T","p.G661C","NA",0.283784,74,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","mitogen-activated protein kinase kinase kinase 15","ASK3, bA723P2.3","The protein encoded by this gene is a member of the mitogen-activated protein kinase (MAPK) family. These family members function in a protein kinase signal transduction cascade, where an activated MAPK kinase kinase (MAP3K) phosphorylates and activates a specific MAPK kinase (MAP2K), which then activates a specific MAPK. This MAP3K protein plays an essential role in apoptotic cell death triggered by cellular stresses. [provided by RefSeq, Jul 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","MTCH1","chr6",36943444,36943444,"NM_014341","C","T","missense","SNM","NA","NA","NA","c.751G>A","p.G251R","NA",0.31068,206,0,135,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","mitochondrial carrier 1","CGI-64, PIG60, PSAP, SLC25A49","This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","MYF5","chr12",81111258,81111258,"NM_005593","G","C","missense","SNM","NA","NA","NA","c.416G>C","p.R139T","NA",0.15,120,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","myogenic factor 5","B130010J22Rik, Myf-5, bHLHc2",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","NCOA1","chr2",24930532,24930532,"NM_003743","A","G","missense","SNM","NA","NA","NA","c.2193A>G","p.I731M","NA",0.241379,58,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","nuclear receptor coactivator 1","F-SRC-1, KAT13A, RIP160, SRC1, bHLHe42, bHLHe74","The protein encoded by this gene acts as a transcriptional coactivator for steroid and nuclear hormone receptors. It is a member of the p160/steroid receptor coactivator (SRC) family and like other family members has histone acetyltransferase activity and contains a nuclear localization signal, as well as bHLH and PAS domains. The product of this gene binds nuclear receptors directly and stimulates the transcriptional activities in a hormone-dependent fashion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","NLRP3","chr1",247582250,247582250,"NM_001079821","G","T","missense","SNM","NA","NA","NA","c.154G>T","p.V52L","NA",0.155963,109,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","NLR family, pyrin domain containing 3","AGTAVPRL, AII/AVP, Cias1, FCAS, FCU, MWS, Mmig1, NALP3, Pypaf1",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","NPAS2","chr2",101607312,101607312,"NM_002518","A","T","missense","SNM","NA","NA","NA","c.2089A>T","p.S697C","NA",0.205882,136,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neuronal PAS domain protein 2","MOP4, PASD4, bHLHe9","The protein encoded by this gene is a member of the basic helix-loop-helix (bHLH)-PAS family of transcription factors. A similar mouse protein may play a regulatory role in the acquisition of specific types of memory. It also may function as a part of a molecular clock operative in the mammalian forebrain. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","NR1H4","chr12",100928800,100928800,"NM_001206993","G","T","missense","SNM","NA","NA","NA","c.761G>T","p.R254M","NA",0.490196,102,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","nuclear receptor subfamily 1, group H, member 4","AI957360, Fxr, HRR1, RIP14, Rxrip14",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","NUP205","chr7",135320365,135320365,"NM_015135","G","C","missense","SNM","NA","NA","NA","c.5096G>C","p.G1699A","NA",0.552632,38,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","nucleoporin 205","C7orf14, NPHS13","This gene encodes a nucleoporin, which is a subunit of the nuclear pore complex that functions in active transport of proteins, RNAs and ribonucleoprotein particles between the nucleus and cytoplasm. Mutations in this gene are associated with steroid-resistant nephrotic syndrome. [provided by RefSeq, Jul 2016]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR1S2","chr11",57971239,57971239,"NM_001004459","T","C","missense","SNM","NA","NA","NA","c.415A>G","p.I139V","NA",0.153226,248,0,168,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 1 subfamily S member 2","OR11-231","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR4C16","chr11",55340029,55340029,"NM_001004701","G","T","missense","SNM","NA","NA","NA","c.426G>T","p.L142F","NA",0.164948,97,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 4 subfamily C member 16 (gene/pseudogene)","OR11-135","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR4K1","chr14",20404639,20404639,"NM_001004063","T","C","missense","SNM","NA","NA","NA","c.814T>C","p.S272P","NA",0.27907,43,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 4 subfamily K member 1","OR14-19","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR5K4","chr3",98073394,98073394,"NM_001005517","G","T","stopgain","SNM","NA","NA","NA","c.697G>T","p.G233*","NA",0.30303,66,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 5 subfamily K member 4",null,"Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PBX1","chr1",164761796,164761796,"NM_002585","A","G","missense","SNM","NA","NA","NA","c.331A>G","p.M111V","NA",0.156863,51,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","pre B cell leukemia homeobox 1","2310056B04Rik, D230003C07Rik, Pbx-1","This gene encodes a homeobox protein that belongs to the three-amino-acid loop extension/Pre-B cell leukemia transcription factor (TALE/PBX) family of proteins. The encoded protein is involved in several biological processes during embryogenesis including steroidogenesis, sexual development and the maintenance of hematopoietic stem cells. This protein functions in the development of several organ systems and plays a role in skeletal patterning and programming. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PCSK4","chr19",1486863,1486863,"NM_017573","C","A","missense","SNM","NA","NA","NA","c.1057G>T","p.D353Y","NA",0.214286,84,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","proprotein convertase subtilisin/kexin type 4","AI647044, L21221, NEC 3, NEC3, PC4, SPC5",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PDE4DIP","chr1",144864229,144864229,"NM_001198834","C","A","stopgain","SNM","NA","NA","NA","c.5866G>T","p.E1956*","NA",0.208791,182,0,96,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phosphodiesterase 4D interacting protein","CMYA2, MMGL","The protein encoded by this gene serves to anchor phosphodiesterase 4D to the Golgi/centrosome region of the cell. Defects in this gene may be a cause of myeloproliferative disorder (MBD) associated with eosinophilia. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PHKB","chr16",47531373,47531373,"NM_000293","A","G","missense","SNM","NA","NA","NA","c.140A>G","p.D47G","NA",0.25,72,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phosphorylase kinase regulatory subunit beta",null,"Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, encoded by this gene, which is a member of the phosphorylase b kinase regulatory subunit family. The gamma subunit also includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9B, also known as phosphorylase kinase deficiency of liver and muscle. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. Two pseudogenes have been found on chromosomes 14 and 20, respectively.[provided by RefSeq, Feb 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PKLR","chr1",155264162,155264162,"NM_000298","A","G","missense","SNM","NA","NA","NA","c.980T>C","p.L327P","NA",0.158784,296,0,168,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","pyruvate kinase L/R","PK1, PKL, PKR, PKRL, RPK","The protein encoded by this gene is a pyruvate kinase that catalyzes the transphosphorylation of phohsphoenolpyruvate into pyruvate and ATP, which is the rate-limiting step of glycolysis. Defects in this enzyme, due to gene mutations or genetic variations, are the common cause of chronic hereditary nonspherocytic hemolytic anemia (CNSHA or HNSHA). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","POLR2B","chr4",57896471,57896471,"NM_000938","A","G","missense","SNM","NA","NA","NA","c.3341A>G","p.Y1114C","NA",0.176056,142,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","RNA polymerase II subunit B","POL2RB, RPB2, hRPB140","This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PPP1R16B","chr20",37536820,37536820,"NM_015568","A","C","missense","SNM","NA","NA","NA","c.1178A>C","p.Q393P","NA",0.223077,130,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","protein phosphatase 1 regulatory subunit 16B","ANKRD4, TIMAP","The protein encoded by this gene is membrane-associated and contains five ankyrin repeats, a protein phosphatase-1-interacting domain, and a carboxy-terminal CAAX box domain. Synthesis of the encoded protein is inhibited by transforming growth factor beta-1. The protein may bind to the membrane through its CAAX box domain and may act as a signaling molecule through interaction with protein phosphatase-1. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PRKCDBP","chr11",6340482,6340482,"NM_145040","C","A","stopgain","SNM","NA","NA","NA","c.697G>T","p.E233*","NA",0.240741,54,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","protein kinase C, delta binding protein","SRBC",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PTER","chr10",16528400,16528400,"NM_030664","G","T","missense","SNM","NA","NA","NA","c.482G>T","p.S161I","NA",0.24359,78,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phosphotriesterase related","HPHRP, RPR-1",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","PYHIN1","chr1",158914822,158914822,"NM_152501","C","A","missense","SNM","NA","NA","NA","c.1349C>A","p.S450Y","NA",0.245098,102,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","pyrin and HIN domain family member 1","IFIX","The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","RARS2","chr6",88228411,88228411,"NM_020320","C","T","missense","SNM","NA","NA","NA","c.1352G>A","p.R451H","NA",0.226415,53,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","arginyl-tRNA synthetase 2, mitochondrial","ArgRS, DALRD2, PCH6, PRO1992, RARSL","This nuclear gene encodes a protein that localizes to the mitochondria, where it catalyzes the transfer of L-arginine to its cognate tRNA, an important step in translation of mitochondrially-encoded proteins. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","RGS18","chr1",192153484,192153484,"NM_130782","C","A","missense","SNM","NA","NA","NA","c.508C>A","p.L170I","NA",0.18617,188,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","regulator of G protein signaling 18","RGS13","This gene encodes a member of the regulator of G-protein signaling family. This protein is contains a conserved, 120 amino acid motif called the RGS domain. The protein attenuates the signaling activity of G-proteins by binding to activated, GTP-bound G alpha subunits and acting as a GTPase activating protein (GAP), increasing the rate of conversion of the GTP to GDP. This hydrolysis allows the G alpha subunits to bind G beta/gamma subunit heterodimers, forming inactive G-protein heterotrimers, thereby terminating the signal. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","RNASE10","chr14",20979027,20979027,"NM_001012975","A","T","missense","SNM","NA","NA","NA","c.397A>T","p.S133C","NA",0.273585,106,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ribonuclease, RNase A family, 10 (non-active)","4930474F22Rik, Rah1",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SERBP1","chr1",67895856,67895856,"NM_001018067","C","A","missense","SNM","NA","NA","NA","c.128G>T","p.G43V","NA",0.25,32,0,18,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SERPINE1 mRNA binding protein 1","CGI-55, CHD3IP, HABP4L, PAI-RBP1, PAIRBP1",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SERPINB4","chr18",61305324,61305324,"NM_002974","C","A","stopgain","SNM","NA","NA","NA","c.802G>T","p.E268*","NA",0.269504,141,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","serpin family B member 4","LEUPIN, PI11, SCCA-2, SCCA1, SCCA2","The protein encoded by this gene is a member of the serpin family of serine protease inhibitors. The encoded protein is highly expressed in many tumor cells and can inactivate granzyme M, an enzyme that kills tumor cells. This protein, along with serpin B3, can be processed into smaller fragments that aggregate to form an autoantigen in psoriasis, probably by causing chronic inflammation. [provided by RefSeq, Jan 2017]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SIM2","chr21",38081472,38081472,"NM_005069","A","T","missense","SNM","NA","NA","NA","c.180A>T","p.L60F","NA",0.242718,103,0,96,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SIM bHLH transcription factor 2","HMC13F06, HMC29C01, SIM, bHLHe15","This gene represents a homolog of the Drosophila single-minded (sim) gene, which encodes a transcription factor that is a master regulator of neurogenesis. The encoded protein is ubiquitinated by RING-IBR-RING-type E3 ubiquitin ligases, including the parkin RBR E3 ubiquitin protein ligase. This gene maps within the so-called Down syndrome chromosomal region, and is thus thought to contribute to some specific Down syndrome phenotypes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC26A9","chr1",205897178,205897178,"NM_134325","C","G","splicing","SNM","NA","NA","NA","c.954_splice","e9-1","NA",0.236264,182,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 26 member 9",null,"This gene is one member of a family of sulfate/anion transporter genes. Family members are well conserved in their genomic (number and size of exons) and protein (aa length among species) structures yet have markedly different tissue expression patterns. The product of this gene is a highly selective chloride ion channel regulated by WNK kinases. Alternative splicing results in multiple transcript variants encoding differing isoforms.[provided by RefSeq, Dec 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC9A4","chr2",103148998,103148998,"NM_001011552","C","A","missense","SNM","NA","NA","NA","c.2248C>A","p.L750M","NA",0.107143,140,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 9 (sodium/hydrogen exchanger), member 4","AW990558, D730009J23Rik, NHE4",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLITRK2","chrX",144904790,144904790,"NM_001144005","C","A","missense","SNM","NA","NA","NA","c.847C>A","p.Q283K","NA",0.22449,49,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SLIT and NTRK like family member 2","CXorf1, CXorf2, SLITL1, TMEM257","This gene encodes an integral membrane protein that contains two N-terminal leucine-rich repeats domains and contains C-terminal regions similar to neurotrophin receptors. The encoded protein may play a role in modulating neurite activity. Alternatively spliced transcript variants encoding the same protein have been described.[provided by RefSeq, Feb 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SPEF2","chr5",35806893,35806893,"NM_024867","G","T","missense","SNM","NA","NA","NA","c.5095G>T","p.D1699Y","NA",0.184783,92,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","sperm flagellar 2","C230086A09Rik",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","SRPX","chrX",38016238,38016238,"NM_006307","C","T","missense","SNM","NA","NA","NA","c.1000G>A","p.D334N","NA",0.247525,101,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","sushi repeat containing protein X-linked","DRS, ETX1, HEL-S-83p, SRPX1",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","STK11","chr19",1222986,1222986,"NM_000455","G","T","missense","SNM","NA","NA","NA","c.923G>T","p.W308L","NA",0.590164,60,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","STK31","chr7",23775226,23775226,"NM_031414","G","T","missense","SNM","NA","NA","NA","c.553G>T","p.D185Y","NA",0.288462,52,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","serine/threonine kinase 31","SGK396, TDRD8","This gene is similar to a mouse gene that encodes a putative protein kinase with a tudor domain, and shows testis-specific expression. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","TEKT3","chr17",15215676,15215676,"NM_031898","T","C","missense","SNM","NA","NA","NA","c.1001A>G","p.N334S","NA",0.151685,178,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","tektin 3",null,"This gene product belongs to the tektin family of proteins. Tektins comprise a family of filament-forming proteins that are coassembled with tubulins to form ciliary and flagellar microtubules. The exact function of this gene is not known. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","TGIF2LY","chrY",3447344,3447344,"NM_139214","C","A","missense","SNM","NA","NA","NA","c.59C>A","p.P20Q","NA",0.416667,36,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TGFB induced factor homeobox 2 like Y-linked","TGIFLY","This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. This gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. The C-terminus of this protein is divergent from that of its chromosome X homolog (TGIF2LX), suggesting that this protein may act as a regulator of TGIF2LX. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","TNR","chr1",175348733,175348733,"NM_003285","G","T","missense","SNM","NA","NA","NA","c.1918C>A","p.L640M","NA",0.17037,135,0.00892857,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","tenascin R","J1-tenascin, TN-R, janusin, restrictin",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","TPCN1","chr12",113725965,113725965,"NM_001143819","C","T","splicing","SNM","NA","NA","NA","c.1851_splice","e20-3","NA",0.360129,311,0,198,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","two pore channel 1","5730403B01Rik, Tpc1, mKIAA1169",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","TRPV2","chr17",16321037,16321037,"NM_016113","C","T","stopgain","SNM","NA","NA","NA","c.55C>T","p.Q19*","NA",0.193277,119,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","transient receptor potential cation channel subfamily V member 2","VRL, VRL-1, VRL1","This gene encodes an ion channel that is activated by high temperatures above 52 degrees Celsius. The protein may be involved in transduction of high-temperature heat responses in sensory ganglia. It is thought that in other tissues the channel may be activated by stimuli other than heat. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","UGT1A10","chr2",234545421,234545421,"NM_019075","G","C","missense","SNM","NA","NA","NA","c.253G>C","p.D85H","NA",0.230769,91,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","UDP glucuronosyltransferase family 1 member A10","GNT1, UDPGT, UGT-1A, UGT-1J, UGT1, UGT1-01, UGT1-10, UGT1.1, UGT1.10, UGT1A, UGT1A1, UGT1J, hUG-BR1","This gene encodes a UDP-glucuronosyltransferase, an enzyme of the glucuronidation pathway that transforms small lipophilic molecules, such as steroids, bilirubin, hormones, and drugs, into water-soluble, excretable metabolites. This gene is part of a complex locus that encodes several UDP-glucuronosyltransferases. The locus includes thirteen unique alternate first exons followed by four common exons. Four of the alternate first exons are considered pseudogenes. Each of the remaining nine 5' exons may be spliced to the four common exons, resulting in nine proteins with different N-termini and identical C-termini. Each first exon encodes the substrate binding site, and is regulated by its own promoter. The enzyme encoded by this gene has glucuronidase activity on mycophenolic acid, coumarins, and quinolines. [provided by RefSeq, Jul 2008]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","VPS13C","chr15",62221721,62221721,"NM_020821","C","T","missense","SNM","NA","NA","NA","c.6265G>A","p.G2089R","NA",0.236111,72,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","vacuolar protein sorting 13 homolog C","PARK23","This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","VSIG4","chrX",65253674,65253674,"NM_007268","T","A","splicing","SNM","NA","NA","NA","c.56_splice","e3-2","NA",0.597701,87,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","V-set and immunoglobulin domain containing 4","CRIg, Z39IG","This gene encodes a v-set and immunoglobulin-domain containing protein that is structurally related to the B7 family of immune regulatory proteins. The encoded protein may be a negative regulator of T-cell responses. This protein is also a receptor for the complement component 3 fragments C3b and iC3b. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]","NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","WIBG","chr12",56295751,56295751,"NM_032345","C","A","missense","SNM","NA","NA","NA","c.520G>T","p.G174W","NA",0.223404,94,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Wibg protein","PYM",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","XKR7","chr20",30556385,30556385,"NM_001011718","G","A","missense","SNM","NA","NA","NA","c.407G>A","p.G136E","NA",0.25,68,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","XK related 7","C20orf159, dJ310O13.4",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF233","chr19",44777121,44777121,"NM_181756","T","G","missense","SNM","NA","NA","NA","c.308T>G","p.L103R","NA",0.40625,32,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 233",null,null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF521","chr18",22805232,22805232,"NM_015461","G","C","missense","SNM","NA","NA","NA","c.2650C>G","p.P884A","NA",0.230088,338,0,256,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 521","EHZF, Evi3",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF585B","chr19",37676469,37676469,"NM_152279","G","T","missense","SNM","NA","NA","NA","c.1970C>A","p.T657N","NA",0.182796,93,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 585B","SZFP41",null,"NA"]
["S01468","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF804A","chr2",185801262,185801262,"NM_194250","T","A","missense","SNM","NA","NA","NA","c.1139T>A","p.V380D","NA",0.255319,47,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 804A","C2orf10","The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","ADAMTS2","chr5",178579223,178579223,"NM_014244","A","T","missense","SNM","NA","NA","NA","c.1549T>A","p.C517S","NA","NA","NA","NA","NA",0.24,25,0,26,"NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 2","ADAM-TS2, ADAMTS-2, ADAMTS-3, EDSDERMS, NPI, PC I-NP, PCI-NP, PCINP, PCPNI, PNPI","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS) motif. Individual members of this family differ in the number of C-terminal TS motifs, and some have unique C-terminal domains. The encoded preproprotein is proteolytically processed to generate the mature procollagen N-proteinase. This proteinase excises the N-propeptide of the fibrillar procollagens types I-III and type V. Mutations in this gene cause Ehlers-Danlos syndrome type VIIC, a recessively inherited connective-tissue disorder. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Feb 2016]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","AGPS","chr2",178307212,178307212,"NM_003659","A","T","missense","SNM","NA","NA","NA","c.787A>T","p.M263L","NA","NA","NA","NA","NA",0.466667,30,0,42,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","alkylglycerone phosphate synthase","ADAP-S, ADAS, ADHAPS, ADPS, ALDHPSY, RCDP3","This gene is a member of the FAD-binding oxidoreductase/transferase type 4 family. It encodes a protein that catalyzes the second step of ether lipid biosynthesis in which acyl-dihydroxyacetonephosphate (DHAP) is converted to alkyl-DHAP by the addition of a long chain alcohol and the removal of a long-chain acid anion. The protein is localized to the inner aspect of the peroxisomal membrane and requires FAD as a cofactor. Mutations in this gene have been associated with rhizomelic chondrodysplasia punctata, type 3 and Zellweger syndrome. [provided by RefSeq, Jul 2008]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","ASXL1","chr20",31023108,31023108,"NM_015338","G","C","missense","SNM","NA","NA","NA","c.2593G>C","p.E865Q","NA","NA","NA","NA","NA",0.206349,63,0,41,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ASXL transcriptional regulator 1","BOPS, MDS","This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein is a member of the Polycomb group of proteins, which are necessary for the maintenance of stable repression of homeotic and other loci. The protein is thought to disrupt chromatin in localized areas, enhancing transcription of certain genes while repressing the transcription of other genes. The protein encoded by this gene functions as a ligand-dependent co-activator for retinoic acid receptor in cooperation with nuclear receptor coactivator 1. Mutations in this gene are associated with myelodysplastic syndromes and chronic myelomonocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]","Polycomb"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","CDK10","chr16",89761140,89761140,"NM_052988","C","T","missense","SNM","NA","NA","NA","c.736C>T","p.H246Y","NA","NA","NA","NA","NA",0.421053,19,0,18,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cyclin dependent kinase 10","ALSAS, PISSLRE","The protein encoded by this gene belongs to the CDK subfamily of the Ser/Thr protein kinase family. The CDK subfamily members are highly similar to the gene products of S. cerevisiae cdc28, and S. pombe cdc2, and are known to be essential for cell cycle progression. This kinase has been shown to play a role in cellular proliferation and its function is limited to cell cycle G2-M phase. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","EEF2","chr19",3976607,3976607,"NM_001961","C","A","missense","SNM","NA","NA","NA","c.2522G>T","p.R841L","NA","NA","NA","NA","NA",0.615385,26,0,20,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation elongation factor 2","EEF-2, EF-2, EF2, SCA26","This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","ENTPD6","chr20",25187935,25187935,"NM_001247","C","T","missense","SNM","NA","NA","NA","c.278C>T","p.T93I","NA","NA","NA","NA","NA",0.46875,32,0,21,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ectonucleoside triphosphate diphosphohydrolase 6 (putative)","CD39L2, IL-6SAG, IL6ST2, NTPDase-6, dJ738P15.3","ENTPD6 is similar to E-type nucleotidases (NTPases). NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD6 contains 4 apyrase-conserved regions which are characteristic of NTPases. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","FLAD1","chr1",154965409,154965409,"NM_025207","G","T","missense","SNM","NA","NA","NA","c.1660G>T","p.V554L","NA","NA","NA","NA","NA",0.359375,64,0,23,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","flavin adenine dinucleotide synthetase 1","FAD1, FADS, LSMFLAD, PP591","This gene encodes the enzyme that catalyzes adenylation of flavin mononucleotide (FMN) to form flavin adenine dinucleotide (FAD) coenzyme. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","GZF1","chr20",23350998,23350998,"NM_022482","A","G","missense","SNM","NA","NA","NA","c.2056A>G","p.T686A","NA","NA","NA","NA","NA",0.289474,38,0,20,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GDNF inducible zinc finger protein 1","JLSM, ZBTB23, ZNF336",null,"NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","KCNK3","chr2",26950936,26950936,"NM_002246","C","G","missense","SNM","NA","NA","NA","c.685C>G","p.L229V","NA","NA","NA","NA","NA",0.285714,21,0,37,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","potassium two pore domain channel subfamily K member 3","K2p3.1, OAT1, PPH4, TASK, TASK-1, TBAK1","This gene encodes a member of the superfamily of potassium channel proteins that contain two pore-forming P domains. The encoded protein is an outwardly rectifying channel that is sensitive to changes in extracellular pH and is inhibited by extracellular acidification. Also referred to as an acid-sensitive potassium channel, it is activated by the anesthetics halothane and isoflurane. Although three transcripts are detected in northern blots, there is currently no sequence available to confirm transcript variants for this gene. [provided by RefSeq, Aug 2008]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","KCNK5","chr6",39159217,39159217,"NM_003740","C","A","missense","SNM","NA","NA","NA","c.949G>T","p.G317W","NA","NA","NA","NA","NA",0.666667,27,0,30,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","potassium channel, subfamily K, member 5","KCNK5b, TASK-2",null,"NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","MEIS2","chr15",37376022,37376022,"NM_170675","G","A","missense","SNM","NA","NA","NA","c.704C>T","p.P235L","NA","NA","NA","NA","NA",0.521739,23,0,32,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Meis homeobox 2","A430109D20Rik, Mrg1, Stra10","This gene encodes a homeobox protein belonging to the TALE ('three amino acid loop extension') family of homeodomain-containing proteins. TALE homeobox proteins are highly conserved transcriptional regulators and several members have been shown to be essential contributors to developmental programs. In mice, a knock-out of this gene leads to lethality at embryonic day 14, accompanied with hemorrhaging. Embryos lacking this gene show defects in tissues derived from the neural crest, suggesting a critical role of this gene during cranial and cardiac neural crest cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","NMNAT3","chr3",139280220,139280220,"NM_178177","T","G","missense","SNM","NA","NA","NA","c.280A>C","p.K94Q","NA","NA","NA","NA","NA",0.25,44,0,27,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nicotinamide nucleotide adenylyltransferase 3","FKSG76, PNAT-3, PNAT3","This gene encodes a member of the nicotinamide/nicotinic acid mononucleotide adenylyltransferase family. These enzymes use ATP to catalyze the synthesis of nicotinamide adenine dinucleotide or nicotinic acid adenine dinucleotide from nicotinamide mononucleotide or nicotinic acid mononucleotide, respectively. The encoded protein is localized to mitochondria and may also play a neuroprotective role as a molecular chaperone. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","OGDHL","chr10",50958887,50958887,"NM_018245","G","T","missense","SNM","NA","NA","NA","c.894C>A","p.H298Q","NA","NA","NA","NA","NA",0.222222,45,0,29,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","oxoglutarate dehydrogenase like",null,"The protein encoded by this gene is similar to oxoglutarate dehydrogenase (OGDH) of the OGDH complex, which degrades glucose and glutamate. This gene encodes several isoforms, including some that appear to localize to mitochondria. The encoded protein down-regulates the AKT signaling cascade and can suppress the growth of cervical cancer cells. [provided by RefSeq, Dec 2016]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","PDCD6IP","chr3",33886916,33886916,"NM_001162429","A","T","missense","SNM","NA","NA","NA","c.1492A>T","p.T498S","NA","NA","NA","NA","NA",0.194444,36,0,43,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","programmed cell death 6 interacting protein","AIP1, ALIX, DRIP4, HP95","This gene encodes a protein that functions within the ESCRT pathway in the abscission stage of cytokinesis, in intralumenal endosomal vesicle formation, and in enveloped virus budding. Studies using mouse cells have shown that overexpression of this protein can block apoptosis. In addition, the product of this gene binds to the product of the PDCD6 gene, a protein required for apoptosis, in a calcium-dependent manner. This gene product also binds to endophilins, proteins that regulate membrane shape during endocytosis. Overexpression of this gene product and endophilins results in cytoplasmic vacuolization, which may be partly responsible for the protection against cell death. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. Related pseudogenes have been identified on chromosome 15. [provided by RefSeq, Jan 2012]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","PLEKHA6","chr1",204218062,204218062,"NM_014935","C","G","missense","SNM","NA","NA","NA","c.1711G>C","p.E571Q","NA","NA","NA","NA","NA",0.37037,27,0,28,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pleckstrin homology domain containing A6","PEPP-3, PEPP3",null,"NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","SEL1L","chr14",81943496,81943496,"NM_005065","C","A","missense","SNM","NA","NA","NA","c.2205G>T","p.M735I","NA","NA","NA","NA","NA",0.184211,38,0,30,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SEL1L, ERAD E3 ligase adaptor subunit","PRO1063, SEL1-LIKE, SEL1L1","The protein encoded by this gene is part of a protein complex required for the retrotranslocation or dislocation of misfolded proteins from the endoplasmic reticulum lumen to the cytosol, where they are degraded by the proteasome in a ubiquitin-dependent manner. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","SIPA1L1","chr14",72055127,72055127,"NM_015556","A","G","missense","SNM","NA","NA","NA","c.538A>G","p.I180V","NA","NA","NA","NA","NA",0.4,35,0,51,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","signal-induced proliferation-associated 1 like 1","SPAL, Spa-1, Spa1, Spar","GTPase-activating protein (GAP) that is specific for Rap1; may be involved in cytoskeletal organization of neurons [RGD, Feb 2006]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","SLC7A14","chr3",170218920,170218920,"NM_020949","G","T","missense","SNM","NA","NA","NA","c.519C>A","p.S173R","NA","NA","NA","NA","NA",0.3125,48,0,23,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 7 member 14","PPP1R142","This gene is predicted to encode a glycosylated, cationic amino acid transporter protein with 14 transmembrane domains. This gene is primarily expressed in skin fibroblasts, neural tissue, and primary endothelial cells and its protein is predicted to mediate lysosomal uptake of cationic amino acids. Mutations in this gene are associated with autosomal recessive retinitis pigmentosa. In mice, this gene is expressed in the photoreceptor layer of the retina where its expression increases over the course of retinal development and persists in the mature retina. [provided by RefSeq, Apr 2014]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","SV2A","chr1",149878328,149878328,"NM_014849","C","A","missense","SNM","NA","NA","NA","c.1759G>T","p.V587L","NA","NA","NA","NA","NA",0.535714,56,0,37,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","synaptic vesicle glycoprotein 2 a","AI746429, mKIAA0736",null,"NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","TMEM175","chr4",947114,947114,"NM_032326","C","A","missense","SNM","NA","NA","NA","c.599C>A","p.A200D","NA","NA","NA","NA","NA",0.482759,28,0,25,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 175","hTMEM175",null,"NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","USF2","chr19",35762014,35762014,"NM_003367","G","C","missense","SNM","NA","NA","NA","c.697G>C","p.D233H","NA","NA","NA","NA","NA",0.275,40,0,28,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","upstream transcription factor 2, c-fos interacting","FIP, bHLHb12","This gene encodes a member of the basic helix-loop-helix leucine zipper family of transcription factors. The encoded protein can activate transcription through pyrimidine-rich initiator (Inr) elements and E-box motifs and is involved in regulating multiple cellular processes. [provided by RefSeq, Mar 2016]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","WWP1","chr8",87470147,87470147,"NM_007013","C","G","splicing","SNM","NA","NA","NA","c.2395_splice","e20-3","NA","NA","NA","NA","NA",0.381818,55,0,40,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WW domain containing E3 ubiquitin protein ligase 1","AIP5, Tiul1, hSDRP1","WW domain-containing proteins are found in all eukaryotes and play an important role in the regulation of a wide variety of cellular functions such as protein degradation, transcription, and RNA splicing. This gene encodes a protein which contains 4 tandem WW domains and a HECT (homologous to the E6-associated protein carboxyl terminus) domain. The encoded protein belongs to a family of NEDD4-like proteins, which are E3 ubiquitin-ligase molecules and regulate key trafficking decisions, including targeting of proteins to proteosomes or lysosomes. Alternative splicing of this gene generates at least 6 transcript variants; however, the full length nature of these transcripts has not been defined. [provided by RefSeq, Jul 2008]","NA"]
["S01496","LCNEC","NA","LCNEC","NA","yes","NA","NA","ZMIZ2","chr7",44800025,44800025,"NM_031449","C","T","missense","SNM","NA","NA","NA","c.1073C>T","p.P358L","NA","NA","NA","NA","NA",0.263158,38,0,27,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger MIZ-type containing 2","NET27, TRAFIP20, ZIMP7, hZIMP7","ZMIZ2 and ZMIZ1 (MIM 607159) are members of a PIAS (see MIM 603566)-like family of proteins that interact with nuclear hormone receptors. ZMIZ2 interacts with androgen receptor (AR; MIM 313700) and enhances AR-mediated transcription (Huang et al., 2005 [PubMed 16051670]).[supplied by OMIM, May 2010]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ABCA9","chr17",67023138,67023138,"NM_080283","C","A","missense","SNM","NA","NA","NA","c.2029G>T","p.D677Y","NA",0.392157,51,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ATP binding cassette subfamily A member 9","EST640918","This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ADAP2","chr17",29253908,29253908,"NM_018404","T","G","missense","SNM","NA","NA","NA","c.289T>G","p.Y97D","NA",0.228571,35,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ArfGAP with dual PH domains 2","CENTA2, HSA272195, cent-b","The protein encoded by this gene binds beta-tubulin and increases the stability of microtubules. The encoded protein can also translocate to the cell membrane and bind phosphatidylinositol 3,4,5-trisphosphate (PtdInsP3) and inositol 1,3,4,5-tetrakisphosphate (InsP4). In addition, this protein is a GTPase-activating protein for ADP ribosylation factor 6 and may be able to block the entry of some RNA viruses. [provided by RefSeq, Oct 2016]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ADCY9","chr16",4016272,4016272,"NM_001116","T","A","missense","SNM","NA","NA","NA","c.3566A>T","p.D1189V","NA",0.470149,134,0,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","adenylate cyclase 9","AC9, ACIX","Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","AMY2B","chr1",104122001,104122001,"NM_020978","A","C","missense","SNM","NA","NA","NA","c.1415A>C","p.K472T","NA",0.265403,210,0,410,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","amylase, alpha 2B (pancreatic)","AMY2, AMY3, HXA","Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. [provided by RefSeq, Jun 2013]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ANKRD27","chr19",33135374,33135374,"NM_032139","C","A","missense","SNM","NA","NA","NA","c.382G>T","p.A128S","NA",0.252011,373,0,428,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ankyrin repeat domain 27","PP12899, VARP",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ATP11B","chr3",182538064,182538064,"NM_014616","A","T","missense","SNM","NA","NA","NA","c.44A>T","p.H15L","NA",0.285714,147,0,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ATPase phospholipid transporting 11B (putative)","ATPIF, ATPIR","P-type ATPases, such as ATP11B, are phosphorylated in their intermediate state and drive uphill transport of ions across membranes. Several subfamilies of P-type ATPases have been identified. One subfamily transports heavy metal ions, such as Cu(2+) or Cd(2+). Another subfamily transports non-heavy metal ions, such as H(+), Na(+), K(+), or Ca(+). A third subfamily transports amphipaths, such as phosphatidylserine.[supplied by OMIM, Feb 2005]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","B4GALT7","chr5",177035577,177035577,"NM_007255","G","A","missense","SNM","NA","NA","NA","c.677G>A","p.R226H","NA",0.724138,58,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","beta-1,4-galactosyltransferase 7","EDSP1, EDSSLA, EDSSPD1, XGALT1, XGPT1","This gene is a member of the beta-1,4-galactosyltransferase (beta4GalT) family. Family members encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose. Each beta4GalT member has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus which then remains uncleaved to function as a transmembrane anchor. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein linkage (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) found in proteoglycans. This enzyme differs from other beta4GalTs because it lacks the conserved Cys residues found in beta4GalT1-beta4GalT6 and it is located in cis-Golgi instead of trans-Golgi. Mutations in this gene have been associated with the progeroid form of Ehlers-Danlos syndrome. [provided by RefSeq, Oct 2009]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","BRD1","chr22",50217674,50217674,"NM_014577","T","C","missense","SNM","NA","NA","NA","c.292A>G","p.K98E","NA",0.224359,156,0,134,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","bromodomain containing 1","BRL, BRPF1, BRPF2","This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2017]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","C7orf60","chr7",112472627,112472627,"NM_152556","G","C","missense","SNM","NA","NA","NA","c.577C>G","p.P193A","NA",0.326531,98,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","base methyltransferase of 25S rRNA 2 homolog","C7orf60, SAMTOR",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","CAMTA1","chr1",7723956,7723956,"NM_015215","C","A","stopgain","SNM","NA","NA","NA","c.1349C>A","p.S450*","NA",0.438202,89,0,99,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","calmodulin binding transcription activator 1","CANPMR","The protein encoded by this gene contains a CG1 DNA-binding domain, a transcription factor immunoglobulin domain, ankyrin repeats, and calmodulin-binding IQ motifs. The encoded protein is thought to be a transcription factor and may be a tumor suppressor. However, a translocation event is sometimes observed between this gene and the WWTR1 gene, with the resulting WWTR1-CAMTA1 oncoprotein leading to epithelioid hemangioendothelioma, a malignant vascular cancer. [provided by RefSeq, Mar 2017]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","CCDC108","chr2",219896235,219896235,"NM_194302","G","T","missense","SNM","NA","NA","NA","c.791C>A","p.A264D","NA",0.418033,244,0.00310559,321,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","coiled-coil domain containing 108",null,null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","CDH9","chr5",26881447,26881447,"NM_016279","T","C","missense","SNM","NA","NA","NA","c.2168A>G","p.N723S","NA",0.805263,190,0.00819672,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cadherin 9",null,"This gene encodes a type II classical cadherin from the cadherin superfamily, integral membrane proteins that mediate calcium-dependent cell-cell adhesion. Mature cadherin proteins are composed of a large N-terminal extracellular domain, a single membrane-spanning domain, and a small, highly conserved C-terminal cytoplasmic domain. The extracellular domain consists of 5 subdomains, each containing a cadherin motif, and appears to determine the specificity of the protein's homophilic cell adhesion activity. Type II (atypical) cadherins are defined based on their lack of a HAV cell adhesion recognition sequence specific to type I cadherins. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","COL5A2","chr2",189916191,189916191,"NM_000393","G","A","missense","SNM","NA","NA","NA","c.2786C>T","p.A929V","NA",0.25,36,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","collagen type V alpha 2 chain","EDSC, EDSCL2","This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","CXorf21","chrX",30577607,30577608,"NM_025159","GG","TT","missense","DNM","NA","NA","NA","c.865_866delinsAA","p.P289N","NA",0.128008,62,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chromosome X open reading frame 21",null,null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","DMD","chrX",32407656,32407656,"NM_004006","C","T","missense","SNM","NA","NA","NA","c.4480G>A","p.E1494K","NA",0.145833,48,0,121,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","dystrophin, muscular dystrophy","DXSmh7, DXSmh9, Dp427, Dp71, dys, mdx, pke","This gene encodes a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers in skeletal and cardiac muscles. The encoded protein, dystrophin, is part of the dystrophin-glycoprotein complex, which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. This protein is required for proper development and organization of myofibers as contractile units in striated muscles. Mutations in the human gene cause Duchenne and Becker Muscular Dystrophies and a form of heart disease called DMD-associated dilated cardiomyopathy. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep 2015]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","DSC1","chr18",28720162,28720162,"NM_024421","T","A","missense","SNM","NA","NA","NA","c.1363A>T","p.T455S","NA",0.396825,63,0,134,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","desmocollin 1","CDHF1, DG2/DG3","The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. A subtype of IgA pemphigus, a life-threatening autoimmune disease, is characterized by the presence of autoantibodies that target the encoded protein. The desmosomal family members are arranged in two clusters on chromosome 18. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is proteolytically processed to generate the mature protein. [provided by RefSeq, Nov 2015]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","EDA2R","chrX",65819711,65819711,"NM_001242310","C","A","splicing","SNM","NA","NA","NA","c.575_splice","e7-3","NA",0.4,30,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ectodysplasin A2 receptor","EDA-A2R, EDAA2R, TNFRSF27, XEDAR","The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","EPHA3","chr3",89259060,89259061,"NM_005233","CC","AA","stopgain","DNM","NA","NA","NA","c.204_205delinsAA","p.YQ68_69*K","NA",0.645513,39,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","EPH receptor A3","EK4, ETK, ETK1, HEK, HEK4, TYRO4","This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. This gene encodes a protein that binds ephrin-A ligands. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","EPHA5","chr4",66535332,66535332,"NM_004439","G","T","stopgain","SNM","NA","NA","NA","c.129C>A","p.C43*","NA",0.473684,19,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Eph receptor A5","AI854630, AW125296, Cek7, Ehk1, Els1, Hek7, Rek7, bsk",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAAH2","chrX",57407392,57407392,"NM_174912","G","T","missense","SNM","NA","NA","NA","c.926G>T","p.W309L","NA",0.228571,35,0,138,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","fatty acid amide hydrolase 2","AMDD","This gene encodes a fatty acid amide hydrolase that shares a conserved protein motif with the amidase signature family of enzymes. The encoded enzyme is able to catalyze the hydrolysis of a broad range of bioactive lipids, including those from the three main classes of fatty acid amides; N-acylethanolamines, fatty acid primary amides and N-acyl amino acids. This enzyme has a preference for monounsaturated acyl chains as a substrate. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM47C","chrX",37027999,37027999,"NM_001013736","C","A","missense","SNM","NA","NA","NA","c.1516C>A","p.R506S","NA",0.479167,192,0,330,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","family with sequence similarity 47 member C",null,"This gene encodes a product belonging to a family of proteins with unknown function. The coding sequence of this family member includes several tandemly repeated regions. [provided by RefSeq, Sep 2011]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","GNPDA2","chr4",44724113,44724113,"NM_138335","C","A","missense","SNM","NA","NA","NA","c.112G>T","p.G38C","NA",0.352941,17,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","glucosamine-6-phosphate deaminase 2","GNP2, SB52","The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","GPR112","chrX",135390946,135390946,"NM_153834","C","A","missense","SNM","NA","NA","NA","c.10C>A","p.H4N","NA",0.220472,127,0,198,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G protein-coupled receptor 112",null,null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","GPX5","chr6",28497227,28497227,"NM_001509","G","A","splicing","SNM","NA","NA","NA","c.88_splice","e2-1","NA",0.473684,38,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","glutathione peroxidase 5","AV379049, Arep",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","HMCN1","chr1",186099176,186099176,"NM_031935","G","T","missense","SNM","NA","NA","NA","c.12983G>T","p.C4328F","NA",0.447368,38,0,87,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","hemicentin 1","ARMD1, FBLN6, FIBL-6, FIBL6","This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","HNF4G","chr8",76465321,76465321,"NM_004133","G","T","missense","SNM","NA","NA","NA","c.504G>T","p.K168N","NA",0.363636,43,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","hepatocyte nuclear factor 4 gamma","NR2A2, NR2A3",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","IGF2BP1","chr17",47115665,47115666,"NM_006546","GG","TA","missense","DNM","NA","NA","NA","c.537_538delinsTA","p.QG179_180HS","NA",0.315037,73,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","insulin like growth factor 2 mRNA binding protein 1","CRD-BP, CRDBP, IMP-1, IMP1, VICKZ1, ZBP1","This gene encodes a member of the insulin-like growth factor 2 mRNA-binding protein family. The protein encoded by this gene contains four K homology domains and two RNA recognition motifs. It functions by binding to the mRNAs of certain genes, including insulin-like growth factor 2, beta-actin and beta-transducin repeat-containing protein, and regulating their translation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","INSR","chr19",7122655,7122670,"NM_000208","CCATGCAGTTTCTCGC","-","frameshift deletion","DEL","NA","NA","NA","c.3484_3499delGCGAGAAACTGCATGG","p.A1162fs","NA",0.293233,133,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","insulin receptor","CD220, HHF5","This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ITIH6","chrX",54784783,54784783,"NM_198510","G","C","missense","SNM","NA","NA","NA","c.1724C>G","p.A575G","NA",0.351351,37,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","inter-alpha-trypsin inhibitor heavy chain family member 6","ITIH5L, UNQ6369, dJ14O9.1","The protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. [provided by RefSeq, Sep 2009]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","KDELC1","chr13",103443413,103443413,"NM_024089","C","A","missense","SNM","NA","NA","NA","c.921G>T","p.W307C","NA",0.677419,62,0.00819672,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","KDEL motif containing 1","EP58, ERp58, KDEL1","This gene encodes a protein product localized to the lumen of the endoplasmic reticulum. As a member of the endoplasmic reticulum protein family the encoded protein contains a Lys-Asp-Glu-Leu or KDEL motif located at the extreme C-terminus which prevents all endoplasmic reticulum resident proteins from being secreted. Proteins carrying this motif are bound by a receptor in the Golgi apparatus so that the receptor-ligand complex returns to the endoplasmic reticulum. A processed non-transcribed pseudogene located in an intron of a sodium transporter gene on chromosome 5 has been defined for this gene. This gene has multiple transcript variants which are predicted to encode distinct isoforms. [provided by RefSeq, Jan 2016]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","KDM5C","chrX",53222452,53222452,"NM_004187","C","-","frameshift deletion","DEL","NA","NA","NA","c.4380delG","p.R1460fs","NA",0.538462,52,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","lysine demethylase 5C","DXS1272E, JARID1C, MRX13, MRXJ, MRXSCJ, MRXSJ, SMCX, XE169","This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motifs suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked cognitive disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]","Demeth"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","KRT83","chr12",52715043,52715044,"NM_002282","CG","AA","missense","DNM","NA","NA","NA","c.76_77delinsTT","p.R26L","NA",0.334415,64,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","keratin 83","EKVP5, HB3, Hb-3, KRTHB3, MNLIX","The protein encoded by this gene is a member of the keratin gene family. As a type II hair keratin, it is a basic protein which heterodimerizes with type I keratins to form hair and nails. The type II hair keratins are clustered in a region of chromosome 12q13 and are grouped into two distinct subfamilies based on structure similarity. One subfamily, consisting of KRTHB1, KRTHB3, and KRTHB6, is highly related. The other less-related subfamily includes KRTHB2, KRTHB4, and KRTHB5. All hair keratins are expressed in the hair follicle; this hair keratin, as well as KRTHB1 and KRTHB6, is found primarily in the hair cortex. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","L1CAM","chrX",153130350,153130350,"NM_000425","A","T","missense","SNM","NA","NA","NA","c.2972T>A","p.F991Y","NA",0.335907,259,0,353,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","L1 cell adhesion molecule","CAML1, CD171, HSAS, HSAS1, MASA, MIC5, N-CAM-L1, N-CAML1, NCAM-L1, S10, SPG1","The protein encoded by this gene is an axonal glycoprotein belonging to the immunoglobulin supergene family. The ectodomain, consisting of several immunoglobulin-like domains and fibronectin-like repeats (type III), is linked via a single transmembrane sequence to a conserved cytoplasmic domain. This cell adhesion molecule plays an important role in nervous system development, including neuronal migration and differentiation. Mutations in the gene cause X-linked neurological syndromes known as CRASH (corpus callosum hypoplasia, retardation, aphasia, spastic paraplegia and hydrocephalus). Alternative splicing of this gene results in multiple transcript variants, some of which include an alternate exon that is considered to be specific to neurons. [provided by RefSeq, May 2013]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","LAMB2","chr3",49162797,49162797,"NM_002292","C","T","missense","SNM","NA","NA","NA","c.2609G>A","p.G870E","NA",0.3125,16,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","laminin, beta 2","AW211941, Lamb-2, Lams, npht",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","LONRF2","chr2",100938038,100938038,"NM_198461","C","A","missense","SNM","NA","NA","NA","c.518G>T","p.R173L","NA",0.461538,26,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","LON peptidase N-terminal domain and ring finger 2","RNF192",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","MAEL","chr1",166990370,166990370,"NM_032858","G","C","missense","SNM","NA","NA","NA","c.1090G>C","p.E364Q","NA",0.272727,22,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","maelstrom","Dmel_CG11254, CG11254, Dmel\\CG11254, MAEL, Mael, mae1",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","MAP7D3","chrX",135314373,135314373,"NM_024597","C","T","missense","SNM","NA","NA","NA","c.743G>A","p.G248D","NA",0.414286,139,0.00840336,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","MAP7 domain containing 3","MDP3","The protein encoded by this gene belongs to the MAP7 (microtubule-associated protein 7) family. Alternatively spliced transcript variants encoding different isoforms have been found. [provided by RefSeq, Mar 2010]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","MET","chr7",116403105,116403105,"NM_001127500","C","T","missense","SNM","NA","NA","NA","c.2420C>T","p.A807V","NA",0.431034,58,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","MET proto-oncogene, receptor tyrosine kinase","AUTS9, DFNB97, HGFR, RCCP2, c-Met","This gene encodes a member of the receptor tyrosine kinase family of proteins and the product of the proto-oncogene MET. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that are linked via disulfide bonds to form the mature receptor. Further processing of the beta subunit results in the formation of the M10 peptide, which has been shown to reduce lung fibrosis. Binding of its ligand, hepatocyte growth factor, induces dimerization and activation of the receptor, which plays a role in cellular survival, embryogenesis, and cellular migration and invasion. Mutations in this gene are associated with papillary renal cell carcinoma, hepatocellular carcinoma, and various head and neck cancers. Amplification and overexpression of this gene are also associated with multiple human cancers. [provided by RefSeq, May 2016]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","MKI67","chr10",129905180,129905180,"NM_002417","C","A","missense","SNM","NA","NA","NA","c.4924G>T","p.V1642L","NA",0.223881,200,0,363,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","marker of proliferation Ki-67","KIA, MIB-, MIB-1, PPP1R105","This gene encodes a nuclear protein that is associated with and may be necessary for cellular proliferation. Alternatively spliced transcript variants have been described. A related pseudogene exists on chromosome X. [provided by RefSeq, Mar 2009]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","MYO3A","chr10",26385599,26385599,"NM_017433","-","T","frameshift insertion","INS","NA","NA","NA","c.1763_1764insT","p.G588fs","NA",0.409091,44,0,106,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","myosin IIIA","DFNB30","The protein encoded by this gene belongs to the myosin superfamily. Myosins are actin-dependent motor proteins and are categorized into conventional myosins (class II) and unconventional myosins (classes I and III through XV) based on their variable C-terminal cargo-binding domains. Class III myosins, such as this one, have a kinase domain N-terminal to the conserved N-terminal motor domains and are expressed in photoreceptors. The protein encoded by this gene plays an important role in hearing in humans. Three different recessive, loss of function mutations in the encoded protein have been shown to cause nonsyndromic progressive hearing loss. Expression of this gene is highly restricted, with the strongest expression in retina and cochlea. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","NAV2","chr11",19970284,19970284,"NM_001244963","G","A","missense","SNM","NA","NA","NA","c.2372G>A","p.G791D","NA",0.508475,59,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neuron navigator 2","HELAD1, POMFIL2, RAINB1, STEERIN2, UNC53H2","This gene encodes a member of the neuron navigator gene family, which may play a role in cellular growth and migration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","NCOA6","chr20",33328784,33328784,"NM_014071","G","C","missense","SNM","NA","NA","NA","c.5276C>G","p.P1759R","NA",0.476923,65,0.0103093,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","nuclear receptor coactivator 6","AIB3, ASC2, NRC, PRIP, RAP250, TRBP","The protein encoded by this gene is a transcriptional coactivator that can interact with nuclear hormone receptors to enhance their transcriptional activator functions. This protein has been shown to be involved in the hormone-dependent coactivation of several receptors, including prostanoid, retinoid, vitamin D3, thyroid hormone, and steroid receptors. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2011]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","NLRP4","chr19",56369857,56369857,"NM_134444","G","C","missense","SNM","NA","NA","NA","c.1098G>C","p.Q366H","NA",0.325581,86,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","NLR family pyrin domain containing 4","CLR19.5, CT58, NALP4, PAN2, PYPAF4, RNH2","The protein encoded by this gene is a member of the nucleotide-binding and leucine-rich repeat receptor (NLR) family, and is predicted to contain an N-terminal pyrin effector domain (PYD), a centrally-located nucleotide-binding and oligomerization domain (NACHT) and C-terminal leucine-rich repeats (LRR). This gene product has a demonstrated role as a negative regulator of autophagy and type I interferon signaling pathways as a result of protein interactions with its NACHT domain. The PYD domain has also been shown to be important in the inhibition of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells). [provided by RefSeq, Dec 2016]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR2J2","chr6",29141858,29141858,"NM_030905","C","A","missense","SNM","NA","NA","NA","c.446C>A","p.S149Y","NA",0.242424,33,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 2 subfamily J member 2","OR6-19, OR6-8, OR6.3.8, ORL684, dJ80I19.4, hs6M1-6","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR4K2","chr14",20344998,20344998,"NM_001005501","A","G","missense","SNM","NA","NA","NA","c.572A>G","p.D191G","NA",0.317757,214,0.00215983,463,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 4 subfamily K member 2","OR14-15","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR52K1","chr11",4510350,4510350,"NM_001005171","G","C","missense","SNM","NA","NA","NA","c.220G>C","p.V74L","NA",0.505263,95,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 52 subfamily K member 1","OR11-8","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR5D13","chr11",55541155,55541155,"NM_001001967","C","A","missense","SNM","NA","NA","NA","c.242C>A","p.P81H","NA",0.222222,126,0,154,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 5 subfamily D member 13 (gene/pseudogene)",null,"Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jun 2015]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","OSBPL5","chr11",3150287,3150287,"NM_020896","T","-","frameshift deletion","DEL","NA","NA","NA","c.92delA","p.N31fs","NA",0.458333,48,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","oxysterol binding protein like 5","OBPH1, ORP5","This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors that play a key role in the maintenance of cholesterol balance in the body. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. This gene has been shown to be imprinted, with preferential expression from the maternal allele only in placenta. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2010]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PADI2","chr1",17409039,17409039,"NM_007365","C","G","splicing","SNM","NA","NA","NA","c.1158_splice","e11+1","NA",0.45283,53,0,98,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","peptidyl arginine deiminase 2","PAD-H19, PAD2, PDI2","This gene encodes a member of the peptidyl arginine deiminase family of enzymes, which catalyze the post-translational deimination of proteins by converting arginine residues into citrullines in the presence of calcium ions. The family members have distinct substrate specificities and tissue-specific expression patterns. The type II enzyme is the most widely expressed family member. Known substrates for this enzyme include myelin basic protein in the central nervous system and vimentin in skeletal muscle and macrophages. This enzyme is thought to play a role in the onset and progression of neurodegenerative human disorders, including Alzheimer disease and multiple sclerosis, and it has also been implicated in glaucoma pathogenesis. This gene exists in a cluster with four other paralogous genes. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PASK","chr2",242079352,242079352,"NM_001252119","C","T","missense","SNM","NA","NA","NA","c.548G>A","p.S183N","NA",0.253968,63,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","PAS domain containing serine/threonine kinase","PASKIN, STK37","This gene encodes a member of the serine/threonine kinase family that contains two PAS domains. Expression of this gene is regulated by glucose, and the encoded protein plays a role in the regulation of insulin gene expression. Downregulation of this gene may play a role in type 2 diabetes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PCSK4","chr19",1487217,1487217,"NM_017573","C","A","missense","SNM","NA","NA","NA","c.778G>T","p.G260C","NA",0.166667,48,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","proprotein convertase subtilisin/kexin type 4","AI647044, L21221, NEC 3, NEC3, PC4, SPC5",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PDLIM5","chr4",95539299,95539299,"NM_006457","-","T","frameshift insertion","INS","NA","NA","NA","c.1064_1065insT","p.T355fs","NA",0.5,36,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","PDZ and LIM domain 5","ENH, ENH1, L9, LIM","This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PIKFYVE","chr2",209189689,209189689,"NM_015040","G","T","missense","SNM","NA","NA","NA","c.2386G>T","p.D796Y","NA",0.253968,63,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phosphoinositide kinase, FYVE-type zinc finger containing","CFD, FAB1, HEL37, PIP5K, PIP5K3, ZFYVE29","Phosphorylated derivatives of phosphatidylinositol (PtdIns) regulate cytoskeletal functions, membrane trafficking, and receptor signaling by recruiting protein complexes to cell- and endosomal-membranes. Humans have multiple PtdIns proteins that differ by the degree and position of phosphorylation of the inositol ring. This gene encodes an enzyme (PIKfyve; also known as phosphatidylinositol-3-phosphate 5-kinase type III or PIPKIII) that phosphorylates the D-5 position in PtdIns and phosphatidylinositol-3-phosphate (PtdIns3P) to make PtdIns5P and PtdIns(3,5)biphosphate. The D-5 position also can be phosphorylated by type I PtdIns4P-5-kinases (PIP5Ks) that are encoded by distinct genes and preferentially phosphorylate D-4 phosphorylated PtdIns. In contrast, PIKfyve preferentially phosphorylates D-3 phosphorylated PtdIns. In addition to being a lipid kinase, PIKfyve also has protein kinase activity. PIKfyve regulates endomembrane homeostasis and plays a role in the biogenesis of endosome carrier vesicles from early endosomes. Mutations in this gene cause corneal fleck dystrophy (CFD); an autosomal dominant disorder characterized by numerous small white flecks present in all layers of the corneal stroma. Histologically, these flecks appear to be keratocytes distended with lipid and mucopolysaccharide filled intracytoplasmic vacuoles. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PLB1","chr2",28812935,28812935,"NM_153021","C","T","missense","SNM","NA","NA","NA","c.2080C>T","p.P694S","NA",0.398058,103,0,153,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phospholipase B1","PLB, PLB/LIP","This gene encodes a membrane-associated phospholipase that displays lysophospholipase and phospholipase A2 activities through removal of sn-1 and sn-2 fatty acids of glycerophospholipids. In addition, it displays lipase and retinyl ester hydrolase activities. The encoded protein is highly conserved and is composed of a large, glycosylated extracellular domain composed of four tandem homologous domains, followed by a hydrophobic segment that anchors the enzyme to the membrane and a short C-terminal cytoplasmic tail. This gene has been identified as a candidate rheumatoid arthritis risk gene. [provided by RefSeq, Jul 2016]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PLCE1","chr10",95993879,95993879,"NM_016341","A","G","missense","SNM","NA","NA","NA","c.2024A>G","p.K675R","NA",0.265306,49,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phospholipase C epsilon 1","NPHS3, PLCE, PPLC","This gene encodes a phospholipase enzyme that catalyzes the hydrolysis of phosphatidylinositol-4,5-bisphosphate to generate two second messengers: inositol 1,4,5-triphosphate (IP3) and diacylglycerol (DAG). These second messengers subsequently regulate various processes affecting cell growth, differentiation, and gene expression. This enzyme is regulated by small monomeric GTPases of the Ras and Rho families and by heterotrimeric G proteins. In addition to its phospholipase C catalytic activity, this enzyme has an N-terminal domain with guanine nucleotide exchange (GEF) activity. Mutations in this gene cause early-onset nephrotic syndrome; characterized by proteinuria, edema, and diffuse mesangial sclerosis or focal and segmental glomerulosclerosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Sep 2009]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","POLE","chr12",133208966,133208966,"NM_006231","C","A","missense","SNM","NA","NA","NA","c.6265G>T","p.V2089F","NA",0.34127,126,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","DNA polymerase epsilon, catalytic subunit","CRCS12, FILS, POLE1","This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PRLR","chr5",35065948,35065948,"NM_000949","G","C","missense","SNM","NA","NA","NA","c.1112C>G","p.P371R","NA",0.811659,223,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","prolactin receptor","HPRL, MFAB, RI-PRLR, hPRLrI","This gene encodes a receptor for the anterior pituitary hormone, prolactin, and belongs to the type I cytokine receptor family. Prolactin-dependent signaling occurs as the result of ligand-induced dimerization of the prolactin receptor. Several alternatively spliced transcript variants encoding different membrane-bound and soluble isoforms have been described for this gene, which may function to modulate the endocrine and autocrine effects of prolactin in normal tissue and cancer. [provided by RefSeq, Feb 2011]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PTAFR","chr1",28477116,28477116,"NM_001164723","C","A","missense","SNM","NA","NA","NA","c.417G>T","p.L139F","NA",0.368421,95,0,137,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","platelet-activating factor receptor","PAFR","This gene encodes a member of the G-protein coupled receptor 1 family of proteins. Binding of the encoded protein to its phospholipid ligand, platelet-activating factor (PAF), may regulate the inflammatory response and the perception of pain. Homozygous knockout mice for this gene exhibit impaired anaphylactic response, resistance to bacterial infection, and reduced pain-related behavior. [provided by RefSeq, Aug 2015]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","PTPRS","chr19",5212083,5212083,"NM_002850","C","A","missense","SNM","NA","NA","NA","c.4948G>T","p.G1650C","NA",0.409091,88,0.0113636,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","protein tyrosine phosphatase, receptor type, S","AL022616, PTP, PTP-NU3, PTPNU-3, PTPsigma, Ptpt9, R-PTP-S, RPTPsigma",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","RBM45","chr2",178985943,178985943,"NM_152945","A","G","missense","SNM","NA","NA","NA","c.710A>G","p.D237G","NA",0.318182,22,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","RNA binding motif protein 45","DRB1, RB-1","This gene encodes a member of the RNA recognition motif (RRM)-type RNA-binding family of proteins. This protein exhibits preferential binding to poly(C) RNA. Initial cloning of this gene found that the rat ortholog was dynamically expressed in the developing rat brain. This protein has been localized to inclusion bodies in the brain and spinal cord of amyotrophic lateral sclerosis and Alzheimer's patients. A pseudogene has been identified on chromosome 8. [provided by RefSeq, Feb 2015]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","RXFP3","chr5",33937908,33937908,"NM_016568","A","T","missense","SNM","NA","NA","NA","c.1063A>T","p.N355Y","NA",0.864023,352,0,111,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","relaxin family peptide receptor 3","GPCR135, RLN3R1, RXFPR3, SALPR",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","SACS","chr13",23912062,23912062,"NM_014363","A","G","missense","SNM","NA","NA","NA","c.5953T>C","p.W1985R","NA",0.533333,30,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","sacsin molecular chaperone","ARSACS, DNAJC29, PPP1R138, SPAX6","This gene encodes the sacsin protein, which includes a UbL domain at the N-terminus, a DnaJ domain, and a HEPN domain at the C-terminus. The gene is highly expressed in the central nervous system, also found in skin, skeletal muscles and at low levels in the pancreas. This gene includes a very large exon spanning more than 12.8 kb. Mutations in this gene result in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a neurodegenerative disorder characterized by early-onset cerebellar ataxia with spasticity and peripheral neuropathy. The authors of a publication on the effects of siRNA-mediated sacsin knockdown concluded that sacsin protects against mutant ataxin-1 and suggest that \"the large multi-domain sacsin protein is able to recruit Hsp70 chaperone action and has the potential to regulate the effects of other ataxia proteins\" (Parfitt et al., PubMed: 19208651). A pseudogene associated with this gene is located on chromosome 11. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, May 2013]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","SETD2","chr3",47162828,47162828,"NM_014159","G","A","missense","SNM","NA","NA","NA","c.3298C>T","p.H1100Y","NA",0.521739,69,0,120,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SET domain containing 2","HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, SET2, p231HBP","Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]","Meth"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC25A3","chr12",98991700,98991700,"NM_005888","C","-","frameshift deletion","DEL","NA","NA","NA","c.349delC","p.R117fs","NA",0.362745,102,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 25 member 3","OK/SW-cl.48, PHC, PTP","The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC44A5","chr1",75693465,75693465,"NM_152697","T","A","missense","SNM","NA","NA","NA","c.931A>T","p.I311F","NA",0.5,28,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 44 member 5","CTL5",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC8A3","chr14",70512948,70512948,"NM_183002","G","-","frameshift deletion","DEL","NA","NA","NA","c.2500delC","p.L834fs","NA",0.314286,35,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 8 member A3","NCX3","This gene encodes a member of the sodium/calcium exchanger integral membrane protein family. Na+/Ca2+ exchange proteins are involved in maintaining Ca2+ homeostasis in a wide variety of cell types. The protein is regulated by intracellular calcium ions and is found in both the plasma membrane and intracellular organellar membranes, where exchange of Na+ for Ca2+ occurs in an electrogenic manner. Alternative splicing has been observed for this gene and multiple variants have been described. [provided by RefSeq, Aug 2013]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLITRK4","chrX",142716884,142716884,"NM_173078","G","T","missense","SNM","NA","NA","NA","c.2041C>A","p.L681M","NA",0.274286,175,0,259,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SLIT and NTRK like family member 4",null,"This gene encodes a transmembrane protein belonging to the the SLITRK family. These family members include two N-terminal leucine-rich repeat domains similar to those found in the axonal growth-controlling protein SLIT, as well as C-terminal regions similar to neurotrophin receptors. Studies of an homologous protein in mouse suggest that this family member functions to suppress neurite outgrowth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","SPATA17","chr1",218036179,218036179,"NM_138796","G","C","missense","SNM","NA","NA","NA","c.1069G>C","p.A357P","NA",0.241379,87,0,179,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","spermatogenesis associated 17","IQCH, MSRG-11, MSRG11",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","STAMBPL1","chr10",90672873,90672873,"NM_020799","G","T","stopgain","SNM","NA","NA","NA","c.436G>T","p.E146*","NA",0.525424,59,0.0151515,132,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","STAM binding protein like 1","ALMalpha, AMSH-FP, AMSH-LP, bA399O19.2",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","TAF1","chrX",70608171,70608171,"NM_004606","C","A","missense","SNM","NA","NA","NA","c.2572C>A","p.H858N","NA",0.179775,89,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TATA-box binding protein associated factor 1","BA2R, CCG1, CCGS, DYT3, DYT3/TAF1, KAT4, MRXS33, N-TAF1, NSCL2, OF, P250, TAF(II)250, TAF2A, TAFII-250, TAFII250, XDP","Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is the basal transcription factor TFIID, which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes the largest subunit of TFIID. This subunit binds to core promoter sequences encompassing the transcription start site. It also binds to activators and other transcriptional regulators, and these interactions affect the rate of transcription initiation. This subunit contains two independent protein kinase domains at the N- and C-terminals, but also possesses acetyltransferase activity and can act as a ubiquitin-activating/conjugating enzyme. Mutations in this gene result in Dystonia 3, torsion, X-linked, a dystonia-parkinsonism disorder. Alternative splicing of this gene results in multiple transcript variants. This gene is part of a complex transcription unit (TAF1/DYT3), wherein some transcript variants share exons with TAF1 as well as additional downstream DYT3 exons. [provided by RefSeq, Oct 2013]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","TAF7L","chrX",100533036,100533036,"NM_024885","C","T","splicing","SNM","NA","NA","NA","c.835_splice","e9+1","NA",0.484375,64,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TATA-box binding protein associated factor 7 like","CT40, TAF2Q","This gene is similar to a mouse gene that encodes a TATA box binding protein-associated factor, and shows testis-specific expression. The encoded protein could be a spermatogenesis-specific component of the DNA-binding general transcription factor complex TFIID. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","TFG","chr3",100451518,100451518,"NM_001007565","T","A","splicing","SNM","NA","NA","NA","c.580_splice","e4+2","NA",0.324324,37,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TRK-fused gene","HMSNP, SPG57, TF6, TRKT3","There are several documented fusion oncoproteins encoded partially by this gene. This gene also participates in several oncogenic rearrangements resulting in anaplastic lymphoma and mixoid chondrosarcoma, and may play a role in the NF-kappaB pathway. Multiple transcript variants have been found for this gene. [provided by RefSeq, Sep 2010]","NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","TOE1","chr1",45807204,45807204,"NM_025077","C","T","missense","SNM","NA","NA","NA","c.296C>T","p.S99F","NA",0.419355,31,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","target of EGR1, exonuclease","PCH7, hCaf1z",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","TRNAU1AP","chr1",28887219,28887219,"NM_017846","G","T","missense","SNM","NA","NA","NA","c.200G>T","p.G67V","NA",0.3,50,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","tRNA selenocysteine 1 associated protein 1","PRO1902, SECP43, TRSPAP1",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","TSHZ2","chr20",51872907,51872907,"NM_173485","G","C","missense","SNM","NA","NA","NA","c.2910G>C","p.E970D","NA",0.271186,59,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","teashirt zinc finger family member 2","2900073F20Rik, B830045G17, Mtsh2, Sdccag33l, Tsh2, Zfp218, mKIAA4248, teashirt2",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","URB2","chr1",229772960,229772960,"NM_014777","G","A","missense","SNM","NA","NA","NA","c.2600G>A","p.R867K","NA",0.382353,68,0,135,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","URB2 ribosome biogenesis homolog","KIAA0133, NET10, NPA2",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","WDR64","chr1",241959648,241959648,"NM_144625","G","T","missense","SNM","NA","NA","NA","c.3138G>T","p.K1046N","NA",0.37931,29,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","WD repeat domain 64",null,null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","XIRP2","chr2",168103564,168103564,"NM_152381","C","A","missense","SNM","NA","NA","NA","c.5662C>A","p.P1888T","NA",0.394737,38,0,108,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","xin actin-binding repeat containing 2","2310003D02Rik, 2310008C07Rik, A530024P18Rik, AI452089, Cmya3, Gm352, Xin2",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","XIRP2","chr2",168115440,168115440,"NM_001199143","C","A","missense","SNM","NA","NA","NA","c.2483C>A","p.P828H","NA",0.192308,26,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","xin actin-binding repeat containing 2","2310003D02Rik, 2310008C07Rik, A530024P18Rik, AI452089, Cmya3, Gm352, Xin2",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF521","chr18",22807661,22807661,"NM_015461","T","C","missense","SNM","NA","NA","NA","c.221A>G","p.D74G","NA",0.37931,29,0,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 521","EHZF, Evi3",null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF672","chr1",249142580,249142580,"NM_024836","C","-","frameshift deletion","DEL","NA","NA","NA","c.1107delC","p.C369fs","NA",0.208333,48,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 672",null,null,"NA"]
["S01499","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF831","chr20",57766311,57766311,"NM_178457","-","G","frameshift insertion","INS","NA","NA","NA","c.236_237insG","p.T79fs","NA",0.631579,19,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 831","C20orf174",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","ABHD16A","chr6",31664808,31664808,"NM_021160","T","A","missense","SNM","NA","NA","NA","c.346A>T","p.I116F","NA",0.390411,146,0,87,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","abhydrolase domain containing 16A","BAT5, D6S82E, NG26, PP199","A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for tumor necrosis factor alpha and tumor necrosis factor beta. These genes are all within the human major histocompatibility complex class III region. The protein encoded by this gene is thought to be involved in some aspects of immunity. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2010]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","ADCY8","chr8",131795972,131795972,"NM_001115","T","C","missense","SNM","NA","NA","NA","c.3233A>G","p.N1078S","NA",0.479167,96,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","adenylate cyclase 8","AC8, AW060868",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","AKAP6","chr14",33291731,33291731,"NM_004274","T","C","missense","SNM","NA","NA","NA","c.4712T>C","p.L1571P","NA",0.876106,112,0,153,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","A-kinase anchoring protein 6","ADAP100, ADAP6, AKAP100, PRKA6, mAKAP","The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","AQP4","chr18",24436293,24436293,"NM_001650","C","A","missense","SNM","NA","NA","NA","c.854G>T","p.S285I","NA",0.174941,423,0,349,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","aquaporin 4","MIWC, WCH4","This gene encodes a member of the aquaporin family of intrinsic membrane proteins that function as water-selective channels in the plasma membranes of many cells. This protein is the predominant aquaporin found in brain and has an important role in brain water homeostasis. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. Additional isoforms, resulting from the use of alternative in-frame translation initiation codons, have also been described. Recent studies provided evidence for translational readthrough in this gene, and expression of C-terminally extended isoforms via the use of an alternative in-frame translation termination codon. [provided by RefSeq, Jun 2018]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","ARHGEF25","chr12",58009395,58009395,"NM_001111270","G","T","missense","SNM","NA","NA","NA","c.1256G>T","p.R419L","NA",0.395062,81,0.0121951,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Rho guanine nucleotide exchange factor 25","GEFT, p63RhoGEF","Rho GTPases alternate between an inactive GDP-bound state and an active GTP-bound state, and GEFs facilitate GDP/GTP exchange. This gene encodes a guanine nucleotide exchange factor (GEF) which interacts with Rho GTPases involved in contraction of vascular smooth muscles, regulation of responses to angiotensin II and lens cell differentiation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","BPTF","chr17",65962751,65962751,"NM_182641","G","T","missense","SNM","NA","NA","NA","c.8518G>T","p.G2840C","NA",0.647059,102,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","bromodomain PHD finger transcription factor","FAC1, FALZ, NEDDFL, NURF301","This gene was identified by the reactivity of its encoded protein to a monoclonal antibody prepared against brain homogenates from patients with Alzheimer's disease. Analysis of the original protein (fetal Alz-50 reactive clone 1, or FAC1), identified as an 810 aa protein containing a DNA-binding domain and a zinc finger motif, suggested it might play a role in the regulation of transcription. High levels of FAC1 were detected in fetal brain and in patients with neurodegenerative diseases. The protein encoded by this gene is actually much larger than originally thought, and it also contains a C-terminal bromodomain characteristic of proteins that regulate transcription during proliferation. The encoded protein is highly similar to the largest subunit of the Drosophila NURF (nucleosome remodeling factor) complex. In Drosophila, the NURF complex, which catalyzes nucleosome sliding on DNA and interacts with sequence-specific transcription factors, is necessary for the chromatin remodeling required for transcription. Two alternative transcripts encoding different isoforms have been described completely. [provided by RefSeq, Jul 2008]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","CAPRIN2","chr12",30868021,30868021,"NM_001002259","T","A","missense","SNM","NA","NA","NA","c.2522A>T","p.Y841F","NA",0.436782,174,0,126,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","caprin family member 2","C1QDC1, EEG-1, EEG1, RNG140","The protein encoded by this gene may regulate the transport of mRNA. It may play a role in the differentiation of erythroblasts. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","CDH16","chr16",66948135,66948135,"NM_004062","G","-","frameshift deletion","DEL","NA","NA","NA","c.764delC","p.P255fs","NA",0.322222,90,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cadherin 16",null,"This gene is a member of the cadherin superfamily, genes encoding calcium-dependent, membrane-associated glycoproteins. Mapped to a previously identified cluster of cadherin genes on chromosome 16q22.1, the gene localizes with superfamily members CDH1, CDH3, CDH5, CDH8 and CDH11. The protein consists of an extracellular domain containing 6 cadherin domains, a transmembrane region and a truncated cytoplasmic domain but lacks the prosequence and tripeptide HAV adhesion recognition sequence typical of most classical cadherins. Expression is exclusively in kidney, where the protein functions as the principal mediator of homotypic cellular recognition, playing a role in the morphogenic direction of tissue development. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","CEP112","chr17",64059104,64059104,"NM_001199165","G","C","missense","SNM","NA","NA","NA","c.1051C>G","p.L351V","NA",0.184211,38,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","centrosomal protein 112","CCDC46, MACOCO","This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","CLCA2","chr1",86919138,86919138,"NM_006536","G","T","missense","SNM","NA","NA","NA","c.2242G>T","p.G748C","NA",0.471831,142,0,101,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chloride channel accessory 2","CACC, CACC3, CLCRG2, CaCC-3","This gene encodes a member of the calcium-activated chloride channel regulator (CLCR) family of proteins. Members of this family regulate the transport of chloride across the plasma membrane. The encoded protein is autoproteolytically processed to generate N- and C- terminal fragments. Expression of this gene is upregulated by the tumor suppressor protein p53 in response to DNA damage. In breast cancer, expression of this gene is downregulated and the encoded protein may inhibit migration and invasion while promoting mesenchymal-to-epithelial transition in cancer cell lines. [provided by RefSeq, Sep 2016]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","DCC","chr18",50961521,50961521,"NM_005215","T","A","missense","SNM","NA","NA","NA","c.3171T>A","p.H1057Q","NA",0.426829,246,0,212,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","DCC netrin 1 receptor","CRC18, CRCR1, HGPPS2, IGDCC1, MRMV1, NTN1R1","This gene encodes a netrin 1 receptor. The transmembrane protein is a member of the immunoglobulin superfamily of cell adhesion molecules, and mediates axon guidance of neuronal growth cones towards sources of netrin 1 ligand. The cytoplasmic tail interacts with the tyrosine kinases Src and focal adhesion kinase (FAK, also known as PTK2) to mediate axon attraction. The protein partially localizes to lipid rafts, and induces apoptosis in the absence of ligand. The protein functions as a tumor suppressor, and is frequently mutated or downregulated in colorectal cancer and esophageal carcinoma. [provided by RefSeq, Oct 2009]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","EFHC1","chr6",52344510,52344510,"NM_018100","A","G","missense","SNM","NA","NA","NA","c.1565A>G","p.Q522R","NA",0.227273,154,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","EF-hand domain containing 1","EJM1, dJ304B14.2","This gene encodes an EF-hand-containing calcium binding protein. The encoded protein likely plays a role in calcium homeostasis. Mutations in this gene have been associated with susceptibility to juvenile myoclonic epilepsy and juvenile absence epilepsy. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","EML3","chr11",62372588,62372588,"NM_153265","C","G","missense","SNM","NA","NA","NA","c.1979G>C","p.G660A","NA",0.43299,97,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","echinoderm microtubule associated protein like 3","ELP95",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","EYS","chr6",66044864,66044864,"NM_198283","C","T","missense","SNM","NA","NA","NA","c.1775G>A","p.C592Y","NA",0.512821,39,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","eyes shut homolog","C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, RP25, SPAM, bA166P24.2, bA307F22.3, bA74E24.1, dJ1018A4.2, dJ22I17.2, dJ303F19.1","The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM123B","chrX",63412469,63412469,"NM_152424","T","A","missense","SNM","NA","NA","NA","c.698A>T","p.D233V","NA",0.864407,118,0,178,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","APC membrane recruitment protein 1","FAM123B, OSCS, WTX","The protein encoded by this gene upregulates trancriptional activation by the Wilms tumor protein and interacts with many other proteins, including CTNNB1, APC, AXIN1, and AXIN2. Defects in this gene are a cause of osteopathia striata with cranial sclerosis (OSCS). [provided by RefSeq, May 2010]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","GOLGB1","chr3",121410923,121410923,"NM_004487","T","A","missense","SNM","NA","NA","NA","c.7273A>T","p.I2425F","NA",0.542986,221,0,125,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","golgin B1","GCP, GCP372, GOLIM1",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","GPR82","chrX",41587274,41587274,"NM_080817","T","G","missense","SNM","NA","NA","NA","c.995T>G","p.M332R","NA",0.966667,30,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G protein-coupled receptor 82",null,"The protein encoded by this gene is an orphan G protein-coupled receptor of unknown function. The encoded protein is a member of a family of proteins that contain seven transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. [provided by RefSeq, Sep 2011]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","HACE1","chr6",105291136,105291136,"NM_020771","C","A","missense","SNM","NA","NA","NA","c.364G>T","p.A122S","NA",0.233766,154,0,177,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1","SPPRS","This gene encodes a HECT domain and ankyrin repeat-containing ubiquitin ligase. The encoded protein is involved in specific tagging of target proteins, leading to their subcellular localization or proteasomal degradation. The protein is a potential tumor suppressor and is involved in the pathophysiology of several tumors, including Wilm's tumor. [provided by RefSeq, Mar 2016]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","HIBADH","chr7",27669022,27669022,"NM_152740","C","A","missense","SNM","NA","NA","NA","c.452G>T","p.G151V","NA",0.251908,131,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","3-hydroxyisobutyrate dehydrogenase","NS5ATP1","This gene encodes a mitochondrial 3-hydroxyisobutyrate dehydrogenase enzyme. The encoded protein plays a critical role in the catabolism of L-valine by catalyzing the oxidation of 3-hydroxyisobutyrate to methylmalonate semialdehyde. [provided by RefSeq, Nov 2011]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","KIAA1586","chr6",56917643,56917643,"NM_020931","A","G","missense","SNM","NA","NA","NA","c.346A>G","p.I116V","NA",0.472222,72,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","KIAA1586",null,null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","LAMA2","chr6",129419484,129419484,"NM_000426","C","A","missense","SNM","NA","NA","NA","c.563C>A","p.P188Q","NA",0.580645,93,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","laminin, alpha 2","5830440B04, dy, mKIAA4087, mer, merosin",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","LIG1","chr19",48643329,48643329,"NM_000234","G","C","missense","SNM","NA","NA","NA","c.986C>G","p.P329R","NA",0.677686,121,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","DNA ligase 1",null,"This gene encodes a member of the ATP-dependent DNA ligase protein family. The encoded protein functions in DNA replication, recombination, and the base excision repair process. Mutations in this gene that lead to DNA ligase I deficiency result in immunodeficiency and increased sensitivity to DNA-damaging agents. Disruption of this gene may also be associated with a variety of cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","MUM1","chr19",1356394,1356394,"NM_032853","G","T","missense","SNM","NA","NA","NA","c.6G>T","p.M2I","NA",0.838235,68,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","melanoma associated antigen (mutated) 1","EXPAND1, HSPC211, MUM-1",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","NIP7","chr16",69375536,69375536,"NM_016101","A","G","missense","SNM","NA","NA","NA","c.524A>G","p.H175R","NA",0.618812,202,0,166,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ribosome biosynthesis protein NIP7","YPL211W",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","NUP133","chr1",229622255,229622255,"NM_018230","C","A","missense","SNM","NA","NA","NA","c.1363G>T","p.G455C","NA",0.282353,85,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Nup133p","YKR082W, RAT3",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR4K1","chr14",20403848,20403849,"NM_001004063","TG","AT","missense","DNM","NA","NA","NA","c.23_24delinsAT","p.M8N","NA",0.404644,362,0,396,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 4 subfamily K member 1","OR14-19","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","PHACTR3","chr20",58342384,58342384,"NM_080672","C","G","missense","SNM","NA","NA","NA","c.685C>G","p.P229A","NA",0.313725,51,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phosphatase and actin regulator 3","C20orf101, H17739, PPP1R123, SCAPIN1, SCAPININ","This gene encodes a member of the phosphatase and actin regulator protein family. The encoded protein is associated with the nuclear scaffold in proliferating cells, and binds to actin and the catalytic subunit of protein phosphatase-1, suggesting that it functions as a regulatory subunit of protein phosphatase-1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","PRDM9","chr5",23524588,23524588,"NM_020227","G","A","missense","SNM","NA","NA","NA","c.1096G>A","p.G366S","NA",0.18,50,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","PR domain containing 9","BC012016, Dsbc1, G1-419-29, Meisetz, PRDM9-B, Rcr1, repro7",null,"Meth"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","RFWD3","chr16",74666513,74666513,"NM_018124","C","T","missense","SNM","NA","NA","NA","c.1485G>A","p.M495I","NA",0.566667,60,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ring finger and WD repeat domain 3","FANCW, RNF201",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","RPE","chr2",210884417,210884417,"NM_199229","G","T","missense","SNM","NA","NA","NA","c.589G>T","p.G197C","NA",0.555556,63,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ribulose-5-phosphate-3-epimerase","RPE2-1",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","SAMSN1","chr21",15870804,15870804,"NM_022136","C","A","missense","SNM","NA","NA","NA","c.878G>T","p.R293I","NA",0.386364,44,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SAM domain, SH3 domain and nuclear localization signals 1","HACS1, NASH1, SASH2, SH3D6B, SLy2","SAMSN1 is a member of a novel gene family of putative adaptors and scaffold proteins containing SH3 and SAM (sterile alpha motif) domains (Claudio et al., 2001 [PubMed 11536050]).[supplied by OMIM, Mar 2008]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","SNRNP200","chr2",96954858,96954858,"NM_014014","G","A","splicing","SNM","NA","NA","NA","c.3094_splice","e24-3","NA",0.666667,36,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","small nuclear ribonucleoprotein U5 subunit 200","ASCC3L1, BRR2, HELIC2, RP33, U5-200KD","Pre-mRNA splicing is catalyzed by the spliceosome, a complex of specialized RNA and protein subunits that removes introns from a transcribed pre-mRNA segment. The spliceosome consists of small nuclear RNA proteins (snRNPs) U1, U2, U4, U5 and U6, together with approximately 80 conserved proteins. U5 snRNP contains nine specific proteins. This gene encodes one of the U5 snRNP-specific proteins. This protein belongs to the DEXH-box family of putative RNA helicases. It is a core component of U4/U6-U5 snRNPs and appears to catalyze an ATP-dependent unwinding of U4/U6 RNA duplices. Mutations in this gene cause autosomal-dominant retinitis pigmentosa. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. [provided by RefSeq, Mar 2010]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","SPANXN3","chrX",142596767,142596767,"NM_001009609","G","T","missense","SNM","NA","NA","NA","c.303C>A","p.D101E","NA",0.791667,24,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SPANX family member N3","CT11.8, SPANX-N3",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","SPTA1","chr1",158612604,158612604,"NM_003126","C","A","missense","SNM","NA","NA","NA","c.4605G>T","p.Q1535H","NA",0.377778,90,0,127,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","spectrin alpha, erythrocytic 1","EL2, HPP, HS3, SPH3, SPTA","This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","SYNE2","chr14",64545225,64545225,"NM_182914","G","A","missense","SNM","NA","NA","NA","c.11064G>A","p.M3688I","NA",0.906977,43,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","spectrin repeat containing nuclear envelope protein 2","EDMD5, KASH2, NUA, NUANCE, Nesp2, Nesprin-2, SYNE-2, TROPH","The protein encoded by this gene is a nuclear outer membrane protein that binds cytoplasmic F-actin. This binding tethers the nucleus to the cytoskeleton and aids in the maintenance of the structural integrity of the nucleus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","TBX18","chr6",85457661,85457661,"NM_001080508","C","A","missense","SNM","NA","NA","NA","c.916G>T","p.V306F","NA",0.15,40,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","T-box18","2810012F10Rik, 2810404D13Rik",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","TLR4","chr9",120476334,120476334,"NM_138554","T","A","missense","SNM","NA","NA","NA","c.1928T>A","p.V643E","NA",0.561404,57,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","toll-like receptor 4","Lps, Ly87, Ran/M1, Rasl2-8","This gene belongs to the evolutionarily-conserved Toll-like receptor family, whose members are type-1 transmembrane proteins that are involved in innate immunity. Toll-like receptors are characterized by an extracellular leucine-rich repeat domain that functions in ligand recognition and an intracellular toll/interleukin-1 receptor-like domain that is crucial for signal transduction. The receptor encoded by this gene mediates the innate immune response to bacterial lipopolysaccharide, a major component of the outer membrane of Gram-negative bacteria, through synthesis of pro-inflammatory cytokines and chemokines. In addition, this protein can recognize other pathogens from Gram-negative and Gram-positive bacteria as well as viral components. Mice deficient in this gene display a number of immune response-related phenotypes including hyporesponsiveness to bacterial lipopolysaccharide and increased levels of respiratory syncytial virus compared to controls. [provided by RefSeq, Sep 2015]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","TMEM163","chr2",135215744,135215744,"NM_030923","C","A","missense","SNM","NA","NA","NA","c.668G>T","p.G223V","NA",0.483333,60,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","transmembrane protein 163","2610024A01Rik, A-cre, Act-Cre, SV31, Tg(ACTB-cre)2Mrt, actin-cre, cre&lt;actin&gt;",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","TRPM1","chr15",31358289,31358289,"NM_001252020","C","A","missense","SNM","NA","NA","NA","c.831G>T","p.K277N","NA",0.822222,90,0,154,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","transient receptor potential cation channel subfamily M member 1","CSNB1C, LTRPC1, MLSN1","This gene encodes a member of the transient receptor potential melastatin subfamily of transient receptor potential ion channels. The encoded protein is a calcium permeable cation channel that is expressed in melanocytes and may play a role in melanin synthesis. Specific mutations in this gene are the cause autosomal recessive complete congenital stationary night blindness-1C. The expression of this protein is inversely correlated with melanoma aggressiveness and as such it is used as a prognostic marker for melanoma metastasis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2011]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","UGT2B17","chr4",69433674,69433674,"NM_001077","C","T","missense","SNM","NA","NA","NA","c.529G>A","p.V177I","NA",0.486034,179,0,287,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","UDP glucuronosyltransferase family 2 member B17","BMND12, UDPGT2B17","This gene encodes a member of the uridine diphosphoglucuronosyltransferase protein family. The encoded enzyme catalyzes the transfer of glucuronic acid from uridine diphosphoglucuronic acid to a diverse array of substrates including steroid hormones and lipid-soluble drugs. This process, known as glucuronidation, is an intermediate step in the metabolism of steroids. Copy number variation in this gene is associated with susceptibility to osteoporosis.[provided by RefSeq, Apr 2010]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","USP33","chr1",78180424,78180424,"NM_015017","T","C","missense","SNM","NA","NA","NA","c.2183A>G","p.N728S","NA",0.529915,117,0,76,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ubiquitin specific peptidase 33","VDU1","This gene encodes a deubiquinating enzyme important in a variety of processes, including Slit-dependent cell migration and beta-2 adrenergic receptor signaling. The protein is negatively regulated through ubiquitination by von Hippel-Lindau tumor protein (VHL). Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Jun 2012]","NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","XKR6","chr8",10755706,10755706,"NM_173683","G","A","missense","SNM","NA","NA","NA","c.1682C>T","p.P561L","NA",0.884615,26,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","XK related 6","C8orf21, C8orf5, C8orf7, XRG6",null,"NA"]
["S01505","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF616","chr19",52618837,52618837,"NM_178523","C","G","missense","SNM","NA","NA","NA","c.1580G>C","p.G527A","NA",0.281553,205,0,151,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 616",null,null,"NA"]
["S01508","LCNEC","NA","LCNEC","yes","NA","NA","NA","SERPINB8","chr18",61648985,61648985,"NM_002640","C","T","stopgain","SNM","NA","NA","NA","c.337C>T","p.Q113*","NA",0.217391,138,0,167,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serpin family B member 8","C18orf53, CAP2, HMSD, HSMD-v, PI-8, PI8, PSS5","The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]","NA"]
["S01511","LCNEC","NA","LCNEC","yes","NA","NA","NA","DSG2","chr18",29111187,29111187,"NM_001943","G","A","missense","SNM","NA","NA","NA","c.1252G>A","p.E418K","NA",0.303571,55,0.0147059,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","desmoglein 2","CDHF5, HDGC","This gene encodes a member of the desmoglein family and cadherin cell adhesion molecule superfamily of proteins. Desmogleins are calcium-binding transmembrane glycoprotein components of desmosomes, cell-cell junctions between epithelial, myocardial, and other cell types. The encoded preproprotein is proteolytically processed to generate the mature glycoprotein. This gene is present in a gene cluster with other desmoglein gene family members on chromosome 18. Mutations in this gene have been associated with arrhythmogenic right ventricular dysplasia, familial, 10. [provided by RefSeq, Jan 2016]","NA"]
["S01511","LCNEC","NA","LCNEC","yes","NA","NA","NA","FKBP7","chr2",179330514,179330514,"NM_181342","G","T","missense","SNM","NA","NA","NA","c.652C>A","p.Q218K","NA",0.236111,72,0,62,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FK506 binding protein 7","FKBP23, PPIase","The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. Members of this family exhibit PPIase activity and function as molecular chaperones. A similar protein in mouse is located in the endoplasmic reticulum and binds calcium. [provided by RefSeq, Jul 2008]","NA"]
["S01511","LCNEC","NA","LCNEC","yes","NA","NA","NA","KEAP1","chr19",10610415,10610415,"NM_012289","C","A","missense","SNM","NA","NA","NA","c.295G>T","p.V99L","NA",0.241758,182,0,174,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","kelch like ECH associated protein 1","INrf2, KLHL19","This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01511","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAD1","chr5",34914908,34914908,"NM_002853","G","C","missense","SNM","NA","NA","NA","c.90C>G","p.I30M","NA",0.142276,246,0,137,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ssDNA endodeoxyribonuclease RAD1","YPL022W, LPB9, RAD12",null,"NA"]
["S01511","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPATS2","chr12",49912874,49912874,"NM_023071","G","C","missense","SNM","NA","NA","NA","c.917G>C","p.R306P","NA",0.2875,80,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","spermatogenesis associated serine rich 2","Nbla00526, P59SCR, SCR59, SPATA10",null,"NA"]
["S01511","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM48","chr1",54262724,54262724,"NM_018087","G","A","missense","SNM","NA","NA","NA","c.1316C>T","p.S439F","NA",0.2625,80,0.0131579,76,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NDC1 transmembrane nucleoporin","NET3, TMEM48",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ADAM2","chr8",39606946,39606946,"NM_001464","A","T","stopgain","SNM","NA","NA","NA","c.1899T>A","p.C633*","NA",0.518519,81,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","a disintegrin and metallopeptidase domain 2","AI323749, Ftnb, Ph30-beta","This gene encodes a member of a disintegrin and metalloprotease (ADAM) family of endoproteases that play important roles in various biological processes including cell signaling, adhesion and migration. This gene is predominantly expressed in the epididymis, where the encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Male mice lacking the encoded protein are infertile and exhibit multiple defects in reproduction. [provided by RefSeq, May 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","AHCTF1","chr1",247079698,247079698,"NM_015446","C","A","splicing","SNM","NA","NA","NA","c.149_splice","e4-1","NA",0.339623,53,0.0238095,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","AT-hook containing transcription factor 1","ELYS, MST108, MSTP108, TMBS62",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ANKRD35","chr1",145562017,145562017,"NM_144698","G","A","missense","SNM","NA","NA","NA","c.1705G>A","p.G569R","NA",0.395349,86,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ankyrin repeat domain 35","4732436F15Rik",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","AP3M1","chr10",75888966,75888966,"NM_207012","G","A","missense","SNM","NA","NA","NA","c.703C>T","p.P235S","NA",0.247191,89,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","adaptor related protein complex 3 subunit mu 1",null,"The protein encoded by this gene is the medium subunit of AP-3, which is an adaptor-related protein complex associated with the Golgi region as well as more peripheral intracellular structures. AP-3 facilitates the budding of vesicles from the Golgi membrane, and it may directly function in protein sorting to the endosomal/lysosomal system. AP-3 is a heterotetrameric protein complex composed of two large subunits (delta and beta3), a medium subunit (mu3), and a small subunit (sigma 3). Mutations in one of the large subunits of AP-3 have been associated with the Hermansky-Pudlak syndrome, a genetic disorder characterized by defective lysosome-related organelles. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ASTN1","chr1",177001648,177001648,"NM_004319","C","A","missense","SNM","NA","NA","NA","c.809G>T","p.R270L","NA",0.307054,241,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","astrotactin 1","ASTN","Astrotactin is a neuronal adhesion molecule required for glial-guided migration of young postmitotic neuroblasts in cortical regions of developing brain, including cerebrum, hippocampus, cerebellum, and olfactory bulb (Fink et al., 1995).[supplied by OMIM, Jun 2009]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","BAZ1B","chr7",72856672,72856672,"NM_032408","G","C","missense","SNM","NA","NA","NA","c.4306C>G","p.L1436V","NA",0.304545,220,0.0247934,121,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","bromodomain adjacent to zinc finger domain 1B","WBSCR10, WBSCR9, WSTF","This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","BCAR3","chr1",94049595,94049595,"NM_003567","G","C","stopgain","SNM","NA","NA","NA","c.1013C>G","p.S338*","NA",0.287736,211,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","BCAR3, NSP family adaptor protein","AND-34, NSP2, SH2D3B","Breast tumors are initially dependent on estrogens for growth and progression and can be inhibited by anti-estrogens such as tamoxifen. However, breast cancers progress to become anti-estrogen resistant. Breast cancer anti-estrogen resistance gene 3 was identified in the search for genes involved in the development of estrogen resistance. The gene encodes a component of intracellular signal transduction that causes estrogen-independent proliferation in human breast cancer cells. The protein contains a putative src homology 2 (SH2) domain, a hall mark of cellular tyrosine kinase signaling molecules, and is partly homologous to the cell division cycle protein CDC48. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","BICD1","chr12",32458673,32458673,"NM_001714","G","T","stopgain","SNM","NA","NA","NA","c.622G>T","p.E208*","NA",0.168831,77,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","BICD cargo adaptor 1","BICD, bic-D 1","This gene encodes an adaptor protein that belongs to the bicaudal D family of dynein cargo adaptors. The encoded protein acts as an intracellular cargo transport cofactor that regulates the microtubule-based loading of cargo onto the dynein motor complex. It also controls dynein motor activity and coordination. It has a domain architecture consisting of coiled-coil domains at the N- and C-termini that are highly conserved in other family members. Naturally occurring mutations in this gene are associated with short telomere length and emphysema. [provided by RefSeq, Aug 2017]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","C20orf3","chr20",24949587,24949587,"NM_020531","C","A","missense","SNM","NA","NA","NA","c.982G>T","p.G328W","NA",0.384058,138,0.0434783,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","adipocyte plasma membrane associated protein","BSCv, C20orf3",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","CAST","chr5",96066545,96066545,"NM_001042440","C","G","missense","SNM","NA","NA","NA","c.488C>G","p.S163C","NA",0.41048,229,0,138,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","calpastatin","BS-17, PLACK","The protein encoded by this gene is an endogenous calpain (calcium-dependent cysteine protease) inhibitor. It consists of an N-terminal domain L and four repetitive calpain-inhibition domains (domains 1-4), and it is involved in the proteolysis of amyloid precursor protein. The calpain/calpastatin system is involved in numerous membrane fusion events, such as neural vesicle exocytosis and platelet and red-cell aggregation. The encoded protein is also thought to affect the expression levels of genes encoding structural or regulatory proteins. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jun 2010]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","CD1A","chr1",158225943,158225943,"NM_001763","A","T","stopgain","SNM","NA","NA","NA","c.475A>T","p.K159*","NA",0.377451,204,0.0243902,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","CD1a molecule","CD1, FCB6, HTA1, R4, T6","This gene encodes a member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to the plasma membrane and to recycling vesicles of the early endocytic system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","CENPE","chr4",104044050,104044050,"NM_001813","C","A","missense","SNM","NA","NA","NA","c.7121G>T","p.R2374I","NA",0.363636,132,0.00793651,126,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","centromere protein E","CENP-E, KIF10, MCPH13, PPP1R61","Centrosome-associated protein E (CENPE) is a kinesin-like motor protein that accumulates in the G2 phase of the cell cycle. Unlike other centrosome-associated proteins, it is not present during interphase and first appears at the centromere region of chromosomes during prometaphase. This protein is required for stable spindle microtubule capture at kinetochores which is a necessary step in chromosome alignment during prometaphase. This protein also couples chromosome position to microtubule depolymerizing activity. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. [provided by RefSeq, Nov 2014]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","CHID1","chr11",883271,883271,"NM_001142676","C","A","missense","SNM","NA","NA","NA","c.911G>T","p.R304L","NA",0.692308,117,0.0307692,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chitinase domain containing 1","GL008, SI-CLP, SICLP",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","CSMD2","chr1",34049273,34049273,"NM_052896","C","G","missense","SNM","NA","NA","NA","c.7215G>C","p.E2405D","NA",0.245763,117,0.025974,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","CUB and Sushi multiple domains 2","dJ1007G16.1, dJ1007G16.2, dJ947L8.1","The protein encoded by this gene is thought to be involved in the control of complement. Defects in this gene have been associated with schizophrenia. This gene may act as a tumor suppressor for colorectal cancer. [provided by RefSeq, Mar 2017]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","CSPG4","chr15",75969362,75969362,"NM_001897","G","T","missense","SNM","NA","NA","NA","c.5498C>A","p.P1833H","NA",0.225806,62,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chondroitin sulfate proteoglycan 4","4732461B14Rik, AN2, NG2",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","DNAH9","chr17",11648265,11648265,"NM_001372","C","T","missense","SNM","NA","NA","NA","c.6263C>T","p.P2088L","NA",0.313187,182,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","dynein axonemal heavy chain 9","DNAH17L, DNEL1, DYH9, Dnahc9, HL-20, HL20","This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","DYNC1I1","chr7",95662045,95662045,"NM_004411","G","A","missense","SNM","NA","NA","NA","c.1234G>A","p.D412N","NA",0.248663,373,0.00847458,236,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","dynein cytoplasmic 1 intermediate chain 1","DNCI1, DNCIC1",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","EML2","chr19",46130031,46130031,"NM_001193268","C","A","missense","SNM","NA","NA","NA","c.1276G>T","p.G426W","NA",0.554622,119,0.0181818,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","echinoderm microtubule associated protein like 2","ELP70, EMAP-2, EMAP2",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","EPB41L4A","chr5",111594949,111594949,"NM_022140","C","G","missense","SNM","NA","NA","NA","c.772G>C","p.E258Q","NA",0.314607,178,0.00775194,129,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","erythrocyte membrane protein band 4.1 like 4A","EPB41L4, NBL4","The protein encoded by this gene is a member of the band 4.1 protein superfamily. Members of this superfamily are thought to play an important role in regulating interactions between the cytoskeleton and plasma membrane, and contain an amino terminal conserved domain that binds glycophorin C. This gene product is thought to be involved in the beta-catenin signaling pathway. [provided by RefSeq, Dec 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM113A","chr20",2816130,2816130,"NM_022760","T","C","missense","SNM","NA","NA","NA","c.1343A>G","p.H448R","NA",0.459459,37,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","PC-esterase domain containing 1A","A930025D01Rik, AI480484, Fam113a",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","FAM55A","chr11",114401294,114401294,"NM_152315","G","T","missense","SNM","NA","NA","NA","c.10C>A","p.P4T","NA",0.307692,26,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","NXPE family member 1",null,null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","FBXL18","chr7",5553289,5553289,"NM_024963","T","A","missense","SNM","NA","NA","NA","c.17A>T","p.E6V","NA",0.431818,88,0.0232558,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","F-box and leucine rich repeat protein 18","Fbl18","The protein encoded by this gene is a member of a family of proteins that contain an approximately 40-amino acid F-box motif. This motif is important for interaction with SKP1 and for targeting some proteins for degradation. The encoded protein has been shown to control the cellular level of FBXL7, a protein that induces mitotic arrest, by targeting it for polyubiquitylation and proteasomal degradation. Members of the F-box protein family, such as FBXL18, are characterized by an approximately 40-amino acid F-box motif. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains. [provided by RefSeq, Mar 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","FEN1","chr11",61562867,61562867,"NM_004111","G","A","missense","SNM","NA","NA","NA","c.34G>A","p.D12N","NA",0.130233,214,0.0105263,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","flap structure-specific endonuclease 1","FEN-1, MF1, RAD2","The protein encoded by this gene removes 5' overhanging flaps in DNA repair and processes the 5' ends of Okazaki fragments in lagging strand DNA synthesis. Direct physical interaction between this protein and AP endonuclease 1 during long-patch base excision repair provides coordinated loading of the proteins onto the substrate, thus passing the substrate from one enzyme to another. The protein is a member of the XPG/RAD2 endonuclease family and is one of ten proteins essential for cell-free DNA replication. DNA secondary structure can inhibit flap processing at certain trinucleotide repeats in a length-dependent manner by concealing the 5' end of the flap that is necessary for both binding and cleavage by the protein encoded by this gene. Therefore, secondary structure can deter the protective function of this protein, leading to site-specific trinucleotide expansions. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","FGFR2","chr10",123260380,123260380,"NM_022970","C","A","missense","SNM","NA","NA","NA","c.1524G>T","p.K508N","NA",0.286957,230,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","fibroblast growth factor receptor 2","BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25","The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","GATA4","chr8",11615848,11615848,"NM_002052","C","A","missense","SNM","NA","NA","NA","c.1193C>A","p.P398H","NA",0.5,30,0,21,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","GATA binding protein 4","Gata-4",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","GKAP1","chr9",86383849,86383849,"NM_025211","C","G","missense","SNM","NA","NA","NA","c.622G>C","p.G208R","NA",0.603053,131,0.00952381,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G kinase anchoring protein 1","FKSG21, GKAP42","This gene encodes a protein that is highly similar to the mouse cGMP-dependent protein kinase anchoring protein 42kDa. The mouse protein has been found to localize with the Golgi and recruit cGMP-dependent protein kinase I alpha to the Golgi in mouse testes. It is thought to play a role in germ cell development. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","GLRA3","chr4",175688150,175688150,"NM_006529","G","C","missense","SNM","NA","NA","NA","c.231C>G","p.F77L","NA",0.268519,108,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","glycine receptor, alpha 3 subunit",null,null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","GRK4","chr4",3024140,3024140,"NM_182982","G","C","splicing","SNM","NA","NA","NA","c.933_splice","e10-1","NA",0.234756,328,0.00568182,175,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G protein-coupled receptor kinase 4","GPRK2L, GPRK4, GRK4a, IT11","This gene encodes a member of the guanine nucleotide-binding protein (G protein)-coupled receptor kinase subfamily of the Ser/Thr protein kinase family. The protein phosphorylates the activated forms of G protein-coupled receptors thus initiating its deactivation. This gene has been linked to both genetic and acquired hypertension. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","HNRNPR","chr1",23650114,23650114,"NM_001102398","G","C","missense","SNM","NA","NA","NA","c.610C>G","p.Q204E","NA",0.148936,94,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","heterogeneous nuclear ribonucleoprotein R","HNRPR, hnRNP-R","This gene encodes an RNA-binding protein that is a member of the spliceosome C complex, which functions in pre-mRNA processing and transport. The encoded protein also promotes transcription at the c-fos gene. Alternative splicing results in multiple transcript variants. There are pseudogenes for this gene on chromosomes 4, 11, and 10. [provided by RefSeq, Jul 2014]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","IL20","chr1",207041829,207041829,"NM_018724","C","G","splicing","SNM","NA","NA","NA","c.454_splice","e5-3","NA",0.251121,223,0.0103093,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","interleukin 20","IL-20, IL10D, ZCYTO10","The protein encoded by this gene is a cytokine structurally related to interleukin 10 (IL10). This cytokine has been shown to transduce its signal through signal transducer and activator of transcription 3 (STAT3) in keratinocytes. A specific receptor for this cytokine is found to be expressed in skin and upregulated dramatically in psoriatic skin, suggesting a role for this protein in epidermal function and psoriasis. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","JPH2","chr20",42788714,42788714,"NM_020433","G","T","missense","SNM","NA","NA","NA","c.713C>A","p.S238Y","NA",0.20339,59,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","junctophilin 2","1110002E14Rik, JP-2, Jp2",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","KCNJ3","chr2",155566215,155566215,"NM_002239","T","A","missense","SNM","NA","NA","NA","c.803T>A","p.L268H","NA",0.314286,35,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","potassium voltage-gated channel subfamily J member 3","GIRK1, KGA, KIR3.1","Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and plays an important role in regulating heartbeat. It associates with three other G-protein-activated potassium channels to form a heteromultimeric pore-forming complex that also couples to neurotransmitter receptors in the brain and whereby channel activation can inhibit action potential firing by hyperpolarizing the plasma membrane. These multimeric G-protein-gated inwardly-rectifying potassium (GIRK) channels may play a role in the pathophysiology of epilepsy, addiction, Down's syndrome, ataxia, and Parkinson's disease. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, May 2012]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","KIF2B","chr17",51901193,51901193,"NM_032559","G","T","missense","SNM","NA","NA","NA","c.799G>T","p.D267Y","NA",0.333333,27,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","kinesin family member 2B",null,null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","LONRF1","chr8",12586792,12586792,"NM_152271","C","A","missense","SNM","NA","NA","NA","c.1738G>T","p.V580L","NA",0.58,50,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","LON peptidase N-terminal domain and ring finger 1","RNF191",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","LONRF1","chr8",12592861,12592861,"NM_152271","C","G","missense","SNM","NA","NA","NA","c.1500G>C","p.K500N","NA",0.423529,85,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","LON peptidase N-terminal domain and ring finger 1","RNF191",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","MAGEA6","chrX",151869687,151869687,"NM_005363","C","A","missense","SNM","NA","NA","NA","c.377C>A","p.A126D","NA",0.588235,17,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","MAGE family member A6","CT1.6, MAGE-3b, MAGE3B, MAGE6","This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","MICALCL","chr11",12371388,12371388,"NM_032867","C","T","missense","SNM","NA","NA","NA","c.1733C>T","p.S578L","NA",0.448276,29,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","MICAL C-terminal like","4921517J23Rik",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","MUT","chr6",49421436,49421436,"NM_000255","G","C","missense","SNM","NA","NA","NA","c.945C>G","p.F315L","NA",0.266667,29,0,15,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","methylmalonyl-CoA mutase","MCM","This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","MXRA5","chrX",3239296,3239296,"NM_015419","C","A","missense","SNM","NA","NA","NA","c.4430G>T","p.R1477I","NA",0.579787,188,0.00769231,130,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","matrix remodeling associated 5",null,"This gene encodes one of the matrix-remodelling associated proteins. This protein contains 7 leucine-rich repeats and 12 immunoglobulin-like C2-type domains related to perlecan. This gene has a pseudogene on chromosome Y. [provided by RefSeq, Mar 2010]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","NBN","chr8",90982707,90982707,"NM_002485","T","A","missense","SNM","NA","NA","NA","c.781A>T","p.N261Y","NA",0.396226,159,0.0142857,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","nibrin","AT-V1, AT-V2, ATV, NBS, NBS1, P95","Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","NDUFA9","chr12",4771793,4771793,"NM_005002","C","G","missense","SNM","NA","NA","NA","c.647C>G","p.S216C","NA",0.230769,104,0.0344828,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NADH:ubiquinone oxidoreductase subunit A9","CC6, CI-39k, CI39k, NDUFS2L, SDR22E1","The encoded protein is a subunit of the hydrophobic protein fraction of the NADH:ubiquinone oxidoreductase (complex I), the first enzyme complex in the electron transport chain located in the inner mitochondrial membrane. A pseudogene has been identified on chromosome 12. [provided by RefSeq, May 2010]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","NPAS4","chr11",66190162,66190162,"NM_178864","C","A","missense","SNM","NA","NA","NA","c.448C>A","p.R150S","NA",0.403189,439,0.0102041,196,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neuronal PAS domain protein 4","LE-PAS, Nxf",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","NUP155","chr5",37330235,37330235,"NM_153485","C","A","splicing","SNM","NA","NA","NA","c.1630_splice","e16-1","NA",0.476636,107,0.0196078,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","nucleoporin 155","ATFB15, N155","Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6. [provided by RefSeq, May 2013]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","OLFML2B","chr1",161989884,161989884,"NM_015441","G","T","missense","SNM","NA","NA","NA","c.263C>A","p.A88D","NA",0.356846,241,0.0235294,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactomedin like 2B",null,"This gene encodes an olfactomedin domain-containing protein. Most olfactomedin domain-containing proteins are secreted glycoproteins. [provided by RefSeq, Dec 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR4D9","chr11",59282921,59282921,"NM_001004711","G","T","missense","SNM","NA","NA","NA","c.536G>T","p.C179F","NA",0.382838,303,0.00555556,180,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 4 subfamily D member 9","OR11-253","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR5D16","chr11",55606764,55606764,"NM_001005496","C","G","missense","SNM","NA","NA","NA","c.537C>G","p.F179L","NA",0.289406,387,0,216,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 5 subfamily D member 16","OR11-154","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","OSBPL9","chr1",52135139,52135139,"NM_148909","A","G","missense","SNM","NA","NA","NA","c.196A>G","p.S66G","NA",0.325088,283,0.00869565,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","oxysterol binding protein like 9","ORP-9, ORP9","This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain, although some members contain only the sterol-binding domain. This family member functions as a cholesterol transfer protein that regulates Golgi structure and function. Multiple transcript variants, most of which encode distinct isoforms, have been identified. Related pseudogenes have been identified on chromosomes 3, 11 and 12. [provided by RefSeq, Jul 2010]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","PEX5L","chr3",179526064,179526065,"NM_016559","GG","TT","missense","DNM","NA","NA","NA","c.1513_1514delinsAA","p.P505K","NA",0.239362,94,0.0128205,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","peroxisomal biogenesis factor 5-like","1700016J08Rik, PXR2, Pex2, TRIP8b, pex5Rp",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","PIGR","chr1",207103709,207103709,"NM_002644","G","C","missense","SNM","NA","NA","NA","c.2249C>G","p.S750C","NA",0.277778,18,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","polymeric immunoglobulin receptor",null,"This gene is a member of the immunoglobulin superfamily. The encoded poly-Ig receptor binds polymeric immunoglobulin molecules at the basolateral surface of epithelial cells; the complex is then transported across the cell to be secreted at the apical surface. A significant association was found between immunoglobulin A nephropathy and several SNPs in this gene.[provided by RefSeq, Sep 2009]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","PNLIP","chr10",118314923,118314923,"NM_000936","G","T","missense","SNM","NA","NA","NA","c.715G>T","p.G239C","NA",0.367347,49,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","pancreatic lipase","PL, PNLIPD, PTL","This gene encodes a member of the lipase family of proteins. The encoded enzyme is secreted by the pancreas and hydrolyzes triglycerides in the small intestine, and is essential for the efficient digestion of dietary fats. Inhibition of the encoded enzyme may prevent high-fat diet-induced obesity in mice and result in weight loss in human patients with obesity. Mutations in this gene cause congenital pancreatic lipase deficiency, a rare disorder characterized by steatorrhea. [provided by RefSeq, Jul 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","PRIC285","chr20",62190640,62190640,"NM_001037335","C","A","missense","SNM","NA","NA","NA","c.7909G>T","p.G2637C","NA",0.470588,51,0,15,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","peroxisomal proliferator-activated receptor A interacting complex 285",null,null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","RAB11FIP4","chr17",29848359,29848359,"NM_032932","G","T","missense","SNM","NA","NA","NA","c.739G>T","p.G247W","NA",0.321429,28,0,17,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","RAB11 family interacting protein 4","FIP4-Rab11, RAB11-FIP4","The protein encoded by this gene interacts with RAB11 and is thought to be involved in bringing recycling endosome membranes to the cleavage furrow in late cytokinesis. Hypoxic conditions can lead to an upregulation of the encoded protein and enhance the metastatic potential of hepatocellular carcinoma. [provided by RefSeq, Oct 2016]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","RFX6","chr6",117240440,117240440,"NM_173560","C","A","missense","SNM","NA","NA","NA","c.1163C>A","p.S388Y","NA",0.25,60,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","regulatory factor X6","MTCHRS, MTFS, RFXDC1, dJ955L16.1","The nuclear protein encoded by this gene is a member of the regulatory factor X (RFX) family of transcription factors. Studies in mice suggest that this gene is specifically required for the differentiation of islet cells for the production of insulin, but not for the differentiation of pancreatic polypeptide-producing cells. It regulates the transcription factors involved in beta-cell maturation and function, thus, restricting the expression of the beta-cell differentiation and specification genes. Mutations in this gene are associated with Mitchell-Riley syndrome, which is characterized by neonatal diabetes with pancreatic hypoplasia, duodenal and jejunal atresia, and gall bladder agenesis.[provided by RefSeq, Sep 2010]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","RNF144A","chr2",7137100,7137100,"NM_014746","G","A","missense","SNM","NA","NA","NA","c.43G>A","p.D15N","NA",0.305195,154,0.00900901,111,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ring finger protein 144A","RNF144, UBCE7IP4, hUIP4","This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","RYR1","chr19",39055656,39055656,"NM_000540","G","T","stopgain","SNM","NA","NA","NA","c.12682G>T","p.E4228*","NA",0.25,28,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ryanodine receptor 1","CCO, MHS, MHS1, PPP1R137, RYDR, RYR, RYR-1, SKRR","This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SCARA5","chr8",27737138,27737138,"NM_173833","C","A","missense","SNM","NA","NA","NA","c.1299G>T","p.M433I","NA",0.530864,243,0.00625,160,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","scavenger receptor class A member 5","NET33, Tesr",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SHISA2","chr13",26621145,26621145,"NM_001007538","C","A","missense","SNM","NA","NA","NA","c.394G>T","p.G132W","NA",0.562044,137,0.0153846,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","shisa family member 2","9430059P22Rik, MAd2, Tmem46, mShisa, shisa",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC2A12","chr6",134328018,134328018,"NM_145176","A","G","missense","SNM","NA","NA","NA","c.1499T>C","p.M500T","NA",0.520202,198,0.0210526,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 2 member 12","GLUT12, GLUT8","SLC2A12 belongs to a family of transporters that catalyze the uptake of sugars through facilitated diffusion (Rogers et al., 2002). This family of transporters show conservation of 12 transmembrane helices as well as functionally significant amino acid residues (Joost and Thorens, 2001 [PubMed 11780753]).[supplied by OMIM, Mar 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC33A1","chr3",155571012,155571012,"NM_004733","C","A","missense","SNM","NA","NA","NA","c.775G>T","p.D259Y","NA",0.27027,37,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 33 member 1","ACATN, AT-1, AT1, CCHLND, SPG42","The protein encoded by this gene is required for the formation of O-acetylated (Ac) gangliosides. The encoded protein is predicted to contain 6 to 10 transmembrane domains, and a leucine zipper motif in transmembrane domain III. Defects in this gene have been reported to cause spastic paraplegia autosomal dominant type 42 (SPG42) in one Chinese family, but not in similar patients of European descent. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2010]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC9A11","chr1",173486843,173486843,"NM_178527","A","C","missense","SNM","NA","NA","NA","c.2740T>G","p.L914V","NA",0.333333,84,0.0294118,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 9, member 11","EG640200","DISCONTINUED: This record was withdrawn by Mouse Genome Informatics (MGI).","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SMC1B","chr22",45795181,45795181,"NM_148674","C","A","stopgain","SNM","NA","NA","NA","c.907G>T","p.E303*","NA",0.276119,134,0.00980392,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","structural maintenance of chromosomes 1B","SMC-1B, SMC1beta, Smc1l2",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SPG11","chr15",44951371,44951371,"NM_025137","G","C","missense","SNM","NA","NA","NA","c.573C>G","p.F191L","NA",0.136364,153,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SPG11, spatacsin vesicle trafficking associated","ALS5, CMT2X, KIAA1840","The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ST3GAL5","chr2",86073589,86073589,"NM_003896","C","G","missense","SNM","NA","NA","NA","c.760G>C","p.E254Q","NA",0.298851,86,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ST3 beta-galactoside alpha-2,3-sialyltransferase 5","3S-T, Siat9, [a]2",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","SYNE1","chr6",152806072,152806072,"NM_182961","C","G","missense","SNM","NA","NA","NA","c.1083G>C","p.K361N","NA",0.263158,114,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","spectrin repeat containing nuclear envelope protein 1","8B, ARCA1, C6orf98, CPG2, EDMD4, KASH1, MYNE1, Nesp1, SCAR8, dJ45H2.2","This gene encodes a spectrin repeat containing protein expressed in skeletal and smooth muscle, and peripheral blood lymphocytes, that localizes to the nuclear membrane. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia 8, also referred to as autosomal recessive cerebellar ataxia type 1 or recessive ataxia of Beauce. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","TBCEL","chr11",120924258,120924258,"NM_152715","A","T","splicing","SNM","NA","NA","NA","c.274_splice","e3-2","NA",0.45977,87,0.03125,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","tubulin folding cofactor E like","El, LRRC35",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","TET1","chr10",70333477,70333477,"NM_030625","C","T","missense","SNM","NA","NA","NA","c.1382C>T","p.A461V","NA",0.357143,56,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","tet methylcytosine dioxygenase 1","CXXC6, LCX, bA119F7.1","DNA methylation is an epigenetic mechanism that is important for controlling gene expression. The protein encoded by this gene is a demethylase that belongs to the TET (ten-eleven translocation) family. Members of the TET protein family play a role in the DNA methylation process and gene activation. [provided by RefSeq, Sep 2015]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","TG","chr8",133895106,133895106,"NM_003235","C","A","missense","SNM","NA","NA","NA","c.937C>A","p.H313N","NA",0.186567,134,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","thyroglobulin","AITD3, TGN","Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","TNKS2","chr10",93600346,93600346,"NM_025235","G","A","missense","SNM","NA","NA","NA","c.1556G>A","p.C519Y","NA",0.219895,190,0.0078125,126,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","tankyrase 2","ARTD6, PARP-5b, PARP-5c, PARP5B, PARP5C, TANK2, TNKL, pART6",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","TRRAP","chr7",98592351,98592351,"NM_001244580","G","A","missense","SNM","NA","NA","NA","c.10147G>A","p.E3383K","NA",0.263804,163,0.0229885,87,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","transformation/transcription domain associated protein","PAF350/400, PAF400, STAF40, TR-AP, Tra1","This gene encodes a large multidomain protein of the phosphoinositide 3-kinase-related kinases (PIKK) family. The encoded protein is a common component of many histone acetyltransferase (HAT) complexes and plays a role in transcription and DNA repair by recruiting HAT complexes to chromatin. Deregulation of this gene may play a role in several types of cancer including glioblastoma multiforme. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","TTI1","chr20",36640461,36640461,"NM_014657","C","A","missense","SNM","NA","NA","NA","c.1758G>T","p.M586I","NA",0.311111,45,0,18,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TELO2 interacting protein 1","KIAA0406, smg-10",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","UBAP2","chr9",33923463,33923463,"NM_018449","G","C","stopgain","SNM","NA","NA","NA","c.2810C>G","p.S937*","NA",0.170213,187,0,114,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin associated protein 2","UBAP-2","The protein encoded by this gene contains a UBA (ubiquitin associated) domain, which is characteristic of proteins that function in the ubiquitination pathway. This gene may show increased expression in the adrenal gland and lymphatic tissues. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","VPS13D","chr1",12381917,12381917,"NM_015378","G","T","missense","SNM","NA","NA","NA","c.7600G>T","p.D2534Y","NA",0.409091,66,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","vacuolar protein sorting 13 homolog D",null,"This gene encodes a protein belonging to the vacuolar-protein-sorting-13 gene family. In yeast, vacuolar-protein-sorting-13 proteins are involved in trafficking of membrane proteins between the trans-Golgi network and the prevacuolar compartment. While several transcript variants may exist for this gene, the full-length natures of only two have been described to date. These two represent the major variants of this gene and encode distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZC3H15","chr2",187366059,187366059,"NM_018471","G","A","missense","SNM","NA","NA","NA","c.349G>A","p.D117N","NA",0.256757,74,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger CCCH-type containing 15","HT010, LEREPO4, MSTP012",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF33B","chr10",43088120,43088120,"NM_006955","G","C","missense","SNM","NA","NA","NA","c.2278C>G","p.Q760E","NA",0.296943,229,0.016129,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 33B","KOX2, KOX31, ZNF11B","This gene encodes a member of the zinc finger family of proteins. This gene shows decreased expression in cumulus cells derived from patients undergoing controlled ovarian stimulation. This gene is present in a gene cluster with several related zinc finger genes in the pericentromeric region of chromosome 10. Pseudogenes have been identified on chromosomes 7 and 10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]","NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF347","chr19",53645657,53645657,"NM_001172675","C","G","missense","SNM","NA","NA","NA","c.427G>C","p.E143Q","NA",0.307692,78,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 347","ZNF1111",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF521","chr18",22805688,22805688,"NM_015461","C","A","missense","SNM","NA","NA","NA","c.2194G>T","p.D732Y","NA",0.170543,128,0.015625,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 521","EHZF, Evi3",null,"NA"]
["S01517","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF585A","chr19",37643500,37643500,"NM_199126","C","A","missense","SNM","NA","NA","NA","c.1136G>T","p.G379V","NA",0.245033,151,0.0138889,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 585A",null,null,"NA"]
["S01518","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARID1A","chr1",27106817,27106817,"NM_006015","G","T","missense","SNM","NA","NA","NA","c.6428G>T","p.R2143L","NA",0.0786517,89,0,74,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S01518","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578403,7578403,"NM_000546","C","T","missense","SNM","NA","NA","NA","c.527G>A","p.C176Y","NA",0.158879,107,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADD2","chr2",70901822,70901822,"NM_001185054","G","T","missense","SNM","NA","NA","NA","c.1729C>A","p.L577I","NA",0.197183,213,0.00854701,117,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adducin 2","ADDB","Adducins are heteromeric proteins composed of different subunits referred to as adducin alpha, beta and gamma. The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. While adducins alpha and gamma are ubiquitously expressed, the expression of adducin beta is restricted to brain and hematopoietic tissues. Adducin, originally purified from human erythrocytes, was found to be a heterodimer of adducins alpha and beta. Polymorphisms resulting in amino acid substitutions in these two subunits have been associated with the regulation of blood pressure in an animal model of hypertension. Heterodimers consisting of alpha and gamma subunits have also been described. Structurally, each subunit is comprised of two distinct domains. The amino-terminal region is protease resistant and globular in shape, while the carboxy-terminal region is protease sensitive. The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jun 2010]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","AKR1B10","chr7",134225804,134225804,"NM_020299","C","T","missense","SNM","NA","NA","NA","c.914C>T","p.S305F","NA",0.308642,81,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aldo-keto reductase family 1 member B10","AKR1B11, AKR1B12, ALDRLn, ARL-1, ARL1, HIS, HSI","This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. This member can efficiently reduce aliphatic and aromatic aldehydes, and it is less active on hexoses. It is highly expressed in adrenal gland, small intestine, and colon, and may play an important role in liver carcinogenesis. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","ANKRD13C","chr1",70740488,70740488,"NM_030816","C","A","missense","SNM","NA","NA","NA","c.1309G>T","p.G437C","NA",0.25,68,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ankyrin repeat domain 13C","dJ677H15.3",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP6V1B2","chr8",20072329,20072329,"NM_001693","G","T","missense","SNM","NA","NA","NA","c.928G>T","p.V310F","NA",0.348315,89,0.0196078,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase H+ transporting V1 subunit B2","ATP6B1B2, ATP6B2, DOOD, HO57, VATB, VPP3, Vma2, ZLS2","This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","C8orf38","chr8",96070046,96070046,"NM_152416","G","T","stopgain","SNM","NA","NA","NA","c.883G>T","p.E295*","NA",0.589744,39,0,18,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NADH:ubiquinone oxidoreductase complex assembly factor 6","C8orf38","This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","CCNL1","chr3",156867907,156867907,"NM_020307","C","G","missense","SNM","NA","NA","NA","c.826G>C","p.E276Q","NA",0.210526,38,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cyclin L1","ANIA6A, BM-001, PRO1073, ania-6a",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","CNDP2","chr18",72180954,72180954,"NM_018235","G","T","missense","SNM","NA","NA","NA","c.903G>T","p.K301N","NA",0.419355,93,0.0212766,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","carnosine dipeptidase 2","CN2, CPGL, HEL-S-13, HsT2298, PEPA","CNDP2, also known as tissue carnosinase and peptidase A (EC 3.4.13.18), is a nonspecific dipeptidase rather than a selective carnosinase (Teufel et al., 2003 [PubMed 12473676]).[supplied by OMIM, Mar 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","COPS5","chr8",67969616,67969616,"NM_006837","T","C","missense","SNM","NA","NA","NA","c.572A>G","p.K191R","NA",0.433628,113,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","COP9 signalosome subunit 5","CSN5, JAB1, MOV-34, SGN5","The protein encoded by this gene is one of the eight subunits of COP9 signalosome, a highly conserved protein complex that functions as an important regulator in multiple signaling pathways. The structure and function of COP9 signalosome is similar to that of the 19S regulatory particle of 26S proteasome. COP9 signalosome has been shown to interact with SCF-type E3 ubiquitin ligases and act as a positive regulator of E3 ubiquitin ligases. This protein is reported to be involved in the degradation of  cyclin-dependent kinase inhibitor CDKN1B/p27Kip1. It is also known to be an coactivator that increases the specificity of JUN/AP1 transcription factors. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDX18","chr2",118587028,118587028,"NM_006773","C","T","missense","SNM","NA","NA","NA","c.1856C>T","p.P619L","NA",0.119403,67,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAD-box helicase 18","Has1, MrDb","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, and it is activated by Myc protein. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","DHX34","chr19",47858495,47858495,"NM_014681","G","T","missense","SNM","NA","NA","NA","c.905G>T","p.R302L","NA",0.367089,79,0.0487805,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DExH-box helicase 34","DDX34, HRH1","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","DNMT3A","chr2",25464463,25464463,"NM_175629","C","A","missense","SNM","NA","NA","NA","c.2050G>T","p.V684F","NA",0.219048,105,0.0491803,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DNA methyltransferase 3 alpha","DNMT3A2, M.HsaIIIA, TBRS","CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","EIF4A3","chr17",78109803,78109803,"NM_014740","C","A","missense","SNM","NA","NA","NA","c.1219G>T","p.V407F","NA",0.307018,114,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation initiation factor 4A3","DDX48, Fal1, MUK34, NMP265, NUK34, RCPS, eIF4AIII","This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a nuclear matrix protein. Its amino acid sequence is highly similar to the amino acid sequences of the translation initiation factors eIF4AI and eIF4AII, two other members of the DEAD box protein family. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","EXOC4","chr7",133160122,133160122,"NM_021807","C","T","missense","SNM","NA","NA","NA","c.1223C>T","p.T408M","NA",0.278481,79,0.0120482,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exocyst complex component 4","SEC8, SEC8L1, Sec8p","The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","GLUL","chr1",182354996,182354996,"NM_002065","C","A","missense","SNM","NA","NA","NA","c.502G>T","p.D168Y","NA",0.513158,76,0.030303,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glutamate-ammonia ligase","GLNS, GS, PIG43, PIG59","The protein encoded by this gene belongs to the glutamine synthetase family. It catalyzes the synthesis of glutamine from glutamate and ammonia in an ATP-dependent reaction. This protein plays a role in ammonia and glutamate detoxification, acid-base homeostasis, cell signaling, and cell proliferation. Glutamine is an abundant amino acid, and is important to the biosynthesis of several amino acids, pyrimidines, and purines. Mutations in this gene are associated with congenital glutamine deficiency, and overexpression of this gene was observed in some primary liver cancer samples. There are six pseudogenes of this gene found on chromosomes 2, 5, 9, 11, and 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","HIST1H2BJ","chr6",27100331,27100331,"NM_021058","C","G","missense","SNM","NA","NA","NA","c.199G>C","p.V67L","NA",0.264706,169,0.04,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone cluster 1 H2B family member j","H2B/r, H2BFR, H2BJ","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the histone microcluster on chromosome 6p21.33. [provided by RefSeq, Aug 2015]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","HPS4","chr22",26849357,26849357,"NM_022081","C","G","missense","SNM","NA","NA","NA","c.1969G>C","p.A657P","NA",0.184874,119,0.0181818,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HPS4, biogenesis of lysosomal organelles complex 3 subunit 2","BLOC3S2, LE","This gene encodes a protein component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","LAMB1","chr7",107580530,107580530,"NM_002291","G","C","missense","SNM","NA","NA","NA","c.3665C>G","p.S1222W","NA",0.148148,80,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","laminin B1","C77966, C80098, C81607, D130003D08Rik, Lamb-1, Lamb1-1",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAP2K1","chr15",66774131,66774131,"NM_002755","G","A","missense","SNM","NA","NA","NA","c.607G>A","p.E203K","NA",0.208861,158,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase kinase 1","CFC3, MAPKK1, MEK1, MKK1, PRKMK1","The protein encoded by this gene is a member of the dual specificity protein kinase family, which acts as a mitogen-activated protein (MAP) kinase kinase. MAP kinases, also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This protein kinase lies upstream of MAP kinases and stimulates the enzymatic activity of MAP kinases upon wide variety of extra- and intracellular signals. As an essential component of MAP kinase signal transduction pathway, this kinase is involved in many cellular processes such as proliferation, differentiation, transcription regulation and development. [provided by RefSeq, Jul 2008]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","MZF1","chr19",59073555,59073555,"NM_003422","T","G","missense","SNM","NA","NA","NA","c.2089A>C","p.T697P","NA",0.278261,115,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myeloid zinc finger 1","MZF-1, MZF1B, ZFP98, ZNF42, ZSCAN6",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","NDRG1","chr8",134269051,134269051,"NM_001135242","G","A","missense","SNM","NA","NA","NA","c.506C>T","p.A169V","NA",0.373239,141,0.027027,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","N-myc downstream regulated 1","CAP43, CMT4D, DRG-1, DRG1, GC4, HMSNL, NDR1, NMSL, PROXY1, RIT42, RTP, TARG1, TDD5","This gene is a member of the N-myc downregulated gene family which belongs to the alpha/beta hydrolase superfamily. The protein encoded by this gene is a cytoplasmic protein involved in stress responses, hormone responses, cell growth, and differentiation. The encoded protein is necessary for p53-mediated caspase activation and apoptosis. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4D, and expression of this gene may be a prognostic indicator for several types of cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","NSMCE2","chr8",126114630,126114630,"NM_173685","G","C","missense","SNM","NA","NA","NA","c.58G>C","p.V20L","NA",0.21327,210,0.032967,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase","C8orf36, MMS21, NSE2, ZMIZ7","This gene encodes a member of a family of E3 small ubiquitin-related modifier (SUMO) ligases that mediates the attachment of a SUMO protein to proteins involved in nuclear transport, transcription, chromosome segregation and DNA repair. The encoded protein is part of the structural maintenance of chromosomes (SMC) 5/6 complex which plays a key role genome maintenance, facilitating chromosome segregation and suppressing mitotic recombination. A knockout of the orthologous mouse gene is lethal prior to embryonic day 10.5. Naturally occurring mutations in this gene, that abolish the SUMO ligase activity, are associated with primordial dwarfism and extreme insulin resistance. [provided by RefSeq, Mar 2017]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","PJA1","chrX",68382904,68382904,"NM_145119","C","A","missense","SNM","NA","NA","NA","c.178G>T","p.A60S","NA",0.277778,126,0.0151515,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","praja ring finger ubiquitin ligase 1","PRAJA1, RNF70","This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","POLR2B","chr4",57889547,57889547,"NM_000938","C","T","missense","SNM","NA","NA","NA","c.2567C>T","p.P856L","NA",0.169231,65,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA polymerase II subunit B","POL2RB, RPB2, hRPB140","This gene encodes the second largest subunit of RNA polymerase II (Pol II), a DNA-dependent RNA polymerase that catalyzes the transcription of DNA into precursors of mRNA, snRNA and microRNA. This subunit and the largest subunit form opposite sides of the center cleft of Pol II. Deletion of the flap loop region of this subunit results in a decrease in the rate of transcriptional elongation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRAP1","chr10",135164901,135164902,"NM_145202","AA","TT","missense","DNM","NA","NA","NA","c.92_93delinsTT","p.Q31L","NA",0.333333,30,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","proline rich acidic protein 1","PRO1195, UPA",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","QSOX2","chr9",139100945,139100945,"NM_181701","C","A","missense","SNM","NA","NA","NA","c.1726G>T","p.G576W","NA",0.515152,132,0.0307692,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","quiescin sulfhydryl oxidase 2","QSCN6L1, SOXN","QSOX2 is a member of the sulfhydryl oxidase/quiescin-6 (Q6) family (QSOX1; MIM 603120) that regulates the sensitization of neuroblastoma cells for IFN-gamma (IFNG; MIM 147570)-induced cell death (Wittke et al., 2003 [PubMed 14633699]).[supplied by OMIM, Jun 2009]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","RBL1","chr20",35684650,35684650,"NM_002895","C","T","missense","SNM","NA","NA","NA","c.1262G>A","p.R421H","NA",0.26087,69,0.0392157,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RB transcriptional corepressor like 1","AW547426, PRB1, p107",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","RRAGD","chr6",90097108,90097108,"NM_021244","T","A","missense","SNM","NA","NA","NA","c.350A>T","p.D117V","NA",0.285714,56,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Ras related GTP binding D","RAGD, bA11D8.2.1","RRAGD is a monomeric guanine nucleotide-binding protein, or G protein. By binding GTP or GDP, small G proteins act as molecular switches in numerous cell processes and signaling pathways.[supplied by OMIM, Apr 2004]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","SALL1","chr16",51173852,51173852,"NM_002968","G","T","missense","SNM","NA","NA","NA","c.2281C>A","p.P761T","NA",0.294643,112,0.0266667,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","spalt like transcription factor 1","Msal-3",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","SND1","chr7",127343235,127343235,"NM_014390","G","A","missense","SNM","NA","NA","NA","c.698G>A","p.R233Q","NA",0.143791,153,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","staphylococcal nuclease and tudor domain containing 1","TDRD11, Tudor-SN, p100","This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","TTC13","chr1",231061371,231061371,"NM_024525","C","A","stopgain","SNM","NA","NA","NA","c.1480G>T","p.E494*","NA",0.285714,70,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tetratricopeptide repeat domain 13","BC017545",null,"NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF266","chr19",9524536,9524536,"NM_006631","C","A","missense","SNM","NA","NA","NA","c.1065G>T","p.K355N","NA",0.33871,62,0.0363636,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 266","HZF1","This gene encodes a protein containing many tandem zinc-finger motifs. Zinc fingers are protein or nucleic acid-binding domains, and may be involved in a variety of functions, including regulation of transcription. This gene is located in a cluster of similar genes encoding zinc finger proteins on chromosome 19. Alternative splicing results in multiple transcript variants for this gene. [provided by RefSeq, Sep 2012]","NA"]
["S01533","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF569","chr19",37916815,37916815,"NM_152484","C","A","stopgain","SNM","NA","NA","NA","c.193G>T","p.E65*","NA",0.354167,96,0.0434783,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 569","ZAP1, ZNF",null,"NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","ALG10","chr12",34179365,34179365,"NM_032834","A","T","stopgain","SNM","NA","NA","NA","c.937A>T","p.K313*","NA",0.300971,103,0,76,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ALG10, alpha-1,2-glucosyltransferase","ALG10A, DIE2, KCR1","This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010]","NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","EP400","chr12",132516600,132516600,"NM_015409","G","A","missense","SNM","NA","NA","NA","c.5857G>A","p.V1953M","NA",0.249012,252,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","E1A binding protein p400","CAGH32, P400, TNRC12",null,"NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","GIGYF2","chr2",233612413,233612413,"NM_001103147","G","A","missense","SNM","NA","NA","NA","c.130G>A","p.G44S","NA",0.239583,96,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GRB10 interacting GYF protein 2","GYF2, PARK11, PERQ2, PERQ3, TNRC15","This gene contains CAG trinucleotide repeats and encodes a protein containing several stretches of polyglutamine residues. The encoded protein may be involved in the regulation of tyrosine kinase receptor signaling. This gene is located in a chromosomal region that was genetically linked to Parkinson disease type 11, and mutations in this gene were thought to be causative for this disease. However, more recent studies in different populations have been unable to replicate this association. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]","NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","HGF","chr7",81334776,81334776,"NM_000601","C","T","missense","SNM","NA","NA","NA","c.1940G>A","p.R647Q","NA",0.290323,124,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","hepatocyte growth factor","DFNB39, F-TCF, HGFB, HPTA, SF","This gene encodes a protein that binds to the hepatocyte growth factor receptor to regulate cell growth, cell motility and morphogenesis in numerous cell and tissue types. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate alpha and beta chains, which form the mature heterodimer. This protein is secreted by mesenchymal cells and acts as a multi-functional cytokine on cells of mainly epithelial origin. This protein also plays a role in angiogenesis, tumorogenesis, and tissue regeneration. Although the encoded protein is a member of the peptidase S1 family of serine proteases, it lacks peptidase activity. Mutations in this gene are associated with nonsyndromic hearing loss. [provided by RefSeq, Nov 2015]","NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","MORF4L1","chr15",79178511,79178511,"NM_206839","G","A","missense","SNM","NA","NA","NA","c.301G>A","p.V101I","NA",0.231405,121,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mortality factor 4 like 1","Eaf3, FWP006, HsT17725, MEAF3, MORFRG15, MRG15, S863-6",null,"NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","PARP12","chr7",139728464,139728464,"NM_022750","C","A","missense","SNM","NA","NA","NA","c.1446G>T","p.K482N","NA",0.216216,185,0,109,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","poly(ADP-ribose) polymerase family member 12","ARTD12, MST109, MSTP109, ZC3H1, ZC3HDC1",null,"NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","PTPN3","chr9",112153780,112153780,"NM_002829","T","C","missense","SNM","NA","NA","NA","c.2015A>G","p.D672G","NA",0.337963,216,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein tyrosine phosphatase, non-receptor type 3","PTP-H1, PTPH1","The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This protein contains a C-terminal PTP domain and an N-terminal domain homologous to the band 4.1 superfamily of cytoskeletal-associated proteins. P97, a cell cycle regulator involved in a variety of membrane related functions, has been shown to be a substrate of this PTP. This PTP was also found to interact with, and be regulated by adaptor protein 14-3-3 beta. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2009]","NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","SSH3","chr11",67072293,67072293,"NM_017857","G","C","missense","SNM","NA","NA","NA","c.154G>C","p.G52R","NA",0.223827,277,0,99,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","slingshot protein phosphatase 3","SSH3L","The ADF (actin-depolymerizing factor)/cofilin family (see MIM 601442) is composed of stimulus-responsive mediators of actin dynamics. ADF/cofilin proteins are inactivated by kinases such as LIM domain kinase-1 (LIMK1; MIM 601329). The SSH family appears to play a role in actin dynamics by reactivating ADF/cofilin proteins in vivo (Niwa et al., 2002 [PubMed 11832213]).[supplied by OMIM, Mar 2008]","NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","THOC3","chr5",175395049,175395049,"NM_032361","T","A","missense","SNM","NA","NA","NA","c.163A>T","p.S55C","NA",0.193878,98,0,28,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","THO complex 3","THO3, hTREX45","This gene encodes a component of the nuclear THO transcription elongation complex, which is part of the larger transcription export (TREX) complex that couples messenger RNA processing and export. In humans, the transcription export complex is recruited to the 5'-end of messenger RNAs in a splicing- and cap-dependent manner. Studies of a related complex in mouse suggest that the metazoan transcription export complex is involved in cell differentiation and development. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, May 2013]","NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","UBE3B","chr12",109959031,109959031,"NM_183415","G","T","missense","SNM","NA","NA","NA","c.2155G>T","p.G719W","NA",0.254613,271,0.0232558,129,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin protein ligase E3B","BPIDS, KOS","The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: E1 ubiquitin-activating enzymes, E2 ubiquitin-conjugating enzymes, and E3 ubiquitin-protein ligases. This gene encodes a member of the E3 ubiquitin-conjugating enzyme family which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme and transfers the ubiquitin to the targeted substrates. A HECT (homology to E6-AP C-terminus) domain in the C-terminus of the longer isoform of this protein is the catalytic site of ubiquitin transfer and forms a complex with E2 conjugases. Shorter isoforms of this protein which lack the C-terminal HECT domain are therefore unlikely to bind E2 enzymes. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2012]","NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF615","chr19",52496951,52496951,"NM_001199324","C","A","stopgain","SNM","NA","NA","NA","c.1411G>T","p.E471*","NA",0.379487,195,0,129,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 615",null,null,"NA"]
["S01535","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF671","chr19",58238869,58238869,"NM_024833","A","T","missense","SNM","NA","NA","NA","c.28T>A","p.S10T","NA",0.384615,117,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 671",null,null,"NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","APPL2","chr12",105601963,105601963,"NM_001251904","T","A","stopgain","SNM","NA","NA","NA","c.388A>T","p.K130*","NA",0.646465,99,0.0253165,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 2","DIP13B","The protein encoded by this gene is one of two effectors of the small GTPase RAB5A/Rab5, which are involved in a signal transduction pathway. Both effectors contain an N-terminal Bin/Amphiphysin/Rvs (BAR) domain, a central pleckstrin homology (PH) domain, and a C-terminal phosphotyrosine binding (PTB) domain, and they bind the Rab5 through the BAR domain. They are associated with endosomal membranes and can be translocated to the nucleus in response to the EGF stimulus. They interact with the NuRD/MeCP1 complex (nucleosome remodeling and deacetylase /methyl-CpG-binding protein 1 complex) and are required for efficient cell proliferation. A chromosomal aberration t(12;22)(q24.1;q13.3) involving this gene and the PSAP2 gene results in 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome. [provided by RefSeq, Oct 2011]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","CCT3","chr1",156290683,156290683,"NM_005998","C","G","missense","SNM","NA","NA","NA","c.556G>C","p.E186Q","NA",0.304636,300,0,148,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chaperonin containing TCP1 subunit 3","CCT-gamma, CCTG, PIG48, TCP-1-gamma, TRIC5","The protein encoded by this gene is a molecular chaperone that is a member of the chaperonin containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternate transcriptional splice variants have been characterized for this gene. In addition, a pseudogene of this gene has been found on chromosome 8. [provided by RefSeq, Aug 2010]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","HDAC4","chr2",240078464,240078464,"NM_006037","G","C","missense","SNM","NA","NA","NA","c.617C>G","p.T206R","NA",0.178707,260,0,118,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone deacetylase 4","AHO3, BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDACA","Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","IQSEC1","chr3",12977189,12977189,"NM_001134382","G","A","missense","SNM","NA","NA","NA","c.1327C>T","p.R443W","NA",0.300578,173,0.0111111,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","IQ motif and Sec7 domain 1","ARF-GEP100, ARFGEP100, BRAG2, GEP100",null,"NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","KAT5","chr11",65482120,65482120,"NM_182710","C","T","missense","SNM","NA","NA","NA","c.845C>T","p.P282L","NA",0.285714,399,0.00641026,156,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine acetyltransferase 5","ESA1, HTATIP, HTATIP1, PLIP, TIP, TIP60, ZC2HC5, cPLA2","The protein encoded by this gene belongs to the MYST family of histone acetyl transferases (HATs) and was originally isolated as an HIV-1 TAT-interactive protein. HATs play important roles in regulating chromatin remodeling, transcription and other nuclear processes by acetylating histone and nonhistone proteins. This protein is a histone acetylase that has a role in DNA repair and apoptosis and is thought to play an important role in signal transduction. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","KLHL28","chr14",45403624,45403624,"NM_017658","C","T","missense","SNM","NA","NA","NA","c.1037G>A","p.G346D","NA",0.303797,79,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kelch-like 28","2810440N09Rik, 4122402F11Rik, 4931401E10Rik, Btbd5",null,"NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","PAH","chr12",103234178,103234178,"NM_000277","T","C","missense","SNM","NA","NA","NA","c.1315A>G","p.S439G","NA",0.5,292,0.00925926,108,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phenylalanine hydroxylase","PH, PKU, PKU1","This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","PAK2","chr3",196541323,196541323,"NM_002577","T","A","missense","SNM","NA","NA","NA","c.937T>A","p.Y313N","NA",0.635762,150,0.0111111,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","p21 (RAC1) activated kinase 2","PAK65, PAKgamma","The p21 activated kinases (PAK) are critical effectors that link Rho GTPases to cytoskeleton reorganization and nuclear signaling. The PAK proteins are a family of serine/threonine kinases that serve as targets for the small GTP binding proteins, CDC42 and RAC1, and have been implicated in a wide range of biological activities. The protein encoded by this gene is activated by proteolytic cleavage during caspase-mediated apoptosis, and may play a role in regulating the apoptotic events in the dying cell. [provided by RefSeq, Jul 2008]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","PQBP1","chrX",48759663,48759663,"NM_001032381","T","C","missense","SNM","NA","NA","NA","c.446T>C","p.V149A","NA",0.393939,165,0.0144928,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polyglutamine binding protein 1","MRX2, MRX55, MRXS3, MRXS8, NPW38, RENS1, SHS","This gene encodes a nuclear polyglutamine-binding protein that is involved with transcription activation. The encoded protein contains a WW domain. Mutations in this gene have been found in patients with Renpenning syndrome 1 and other syndromes with X-linked cognitive disability. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene.[provided by RefSeq, Nov 2009]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","RFX5","chr1",151315023,151315023,"NM_001025603","C","A","missense","SNM","NA","NA","NA","c.1490G>T","p.R497M","NA",0.298246,171,0.00990099,101,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","regulatory factor X5",null,"A lack of MHC-II expression results in a severe immunodeficiency syndrome called MHC-II deficiency, or the bare lymphocyte syndrome (BLS; MIM 209920). At least 4 complementation groups have been identified in B-cell lines established from patients with BLS. The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the X box of MHC-II promoters. The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al., 1995). RFX5 is the fifth member of the growing family of DNA-binding proteins sharing a novel and highly characteristic DNA-binding domain called the RFX motif. Multiple alternatively spliced transcript variants have been found but the full-length natures of only two have been determined. [provided by RefSeq, Jul 2008]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","SNAPC4","chr9",139276456,139276456,"NM_003086","G","C","missense","SNM","NA","NA","NA","c.2137C>G","p.R713G","NA",0.177215,78,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","small nuclear RNA activating complex polypeptide 4","PTFalpha, SNAP190","This gene encodes the largest subunit of the small nuclear RNA-activating protein (SNAP) complex. The encoded protein contains a Myb DNA-binding domain, and is essential for RNA polymerase II and III polymerase transcription from small nuclear RNA promoters. A mutation in this gene is associated with ankylosing spondylitis. [provided by RefSeq, Jul 2016]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK10","chr5",171482739,171482739,"NM_005990","C","A","missense","SNM","NA","NA","NA","c.2379G>T","p.E793D","NA",0.268966,145,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serine/threonine kinase 10","LOK, PRO2729","This gene encodes a member of the Ste20 family of serine/threonine protein kinases, and is similar to several known polo-like kinase kinases. The protein can associate with and phosphorylate polo-like kinase 1, and overexpression of a kinase-dead version of the protein interferes with normal cell cycle progression. The kinase can also negatively regulate interleukin 2 expression in T-cells via the mitogen activated protein kinase kinase 1 pathway. [provided by RefSeq, Jul 2008]","NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","TEX9","chr15",56720593,56720593,"NM_198524","C","G","missense","SNM","NA","NA","NA","c.1127C>G","p.S376C","NA",0.2,25,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","testis expressed gene 9","Gm19407, tsec-1",null,"NA"]
["S01544","LCNEC","NA","LCNEC","yes","NA","NA","NA","TPR","chr1",186330972,186330972,"NM_003292","C","G","missense","SNM","NA","NA","NA","c.819G>C","p.E273D","NA",0.361446,82,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","translocated promoter region, nuclear basket protein",null,"This gene encodes a large coiled-coil protein that forms intranuclear filaments attached to the inner surface of nuclear pore complexes (NPCs). The protein directly interacts with several components of the NPC. It is required for the nuclear export of mRNAs and some proteins. Oncogenic fusions of the 5' end of this gene with several different kinase genes occur in some neoplasias. [provided by RefSeq, Jul 2008]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","AKR1C4","chr10",5255048,5255048,"NM_001818","C","A","missense","SNM","NA","NA","NA","c.772C>A","p.R258S","NA",0.213559,295,0.010582,189,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aldo-keto reductase family 1 member C4","3-alpha-HSD, C11, CDR, CHDR, DD-4, DD4, HAKRA","This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their corresponding alcohols by utilizing NADH and/or NADPH as cofactors. The enzymes display overlapping but distinct substrate specificity. This enzyme catalyzes the bioreduction of chlordecone, a toxic organochlorine pesticide, to chlordecone alcohol in liver. This gene shares high sequence identity with three other gene members and is clustered with those three genes at chromosome 10p15-p14. [provided by RefSeq, Jul 2008]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARFGEF1","chr8",68179460,68179460,"NM_006421","G","T","missense","SNM","NA","NA","NA","c.1678C>A","p.Q560K","NA",0.186441,118,0.0243902,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ADP ribosylation factor guanine nucleotide exchange factor 1","ARFGEP1, BIG1, P200","ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","C17orf56","chr17",79211232,79211232,"NM_144679","C","T","missense","SNM","NA","NA","NA","c.76G>A","p.D26N","NA",0.292035,113,0.0153846,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TEPSIN, adaptor related protein complex 4 accessory protein","c17orf56, enthd2",null,"NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","CDH7","chr18",63511111,63511111,"NM_033646","G","T","missense","SNM","NA","NA","NA","c.1045G>T","p.D349Y","NA",0.240506,158,0.0208333,96,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cadherin 7","CDH7L1","This gene encodes a type II classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium dependent cell-cell adhesion molecule is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Type II (atypical) cadherins are defined based on their lack of a histidine-alanine-valine (HAV) cell adhesion recognition sequence specific to type I cadherins. Cadherins mediate cell-cell binding in a homophilic manner, contributing to the sorting of heterogeneous cell types. Mutations in this gene may be associated with bipolar disease in human patients. This gene is present in a gene cluster on chromosome 18. [provided by RefSeq, May 2016]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","HCN3","chr1",155252434,155252434,"NM_020897","A","G","missense","SNM","NA","NA","NA","c.511A>G","p.T171A","NA",0.34507,277,0,140,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","hyperpolarization-activated, cyclic nucleotide-gated K+ 3","BCNG-4, Bcng4, Hac3, Hcn4",null,"NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","HNRNPK","chr9",86587859,86587859,"NM_031263","T","A","missense","SNM","NA","NA","NA","c.545A>T","p.Q182L","NA",0.232558,43,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","heterogeneous nuclear ribonucleoprotein K","AUKS, CSBP, HNRPK, TUNP","This gene belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene is located in the nucleoplasm and has three repeats of KH domains that binds to RNAs. It is distinct among other hnRNP proteins in its binding preference; it binds tenaciously to poly(C). This protein is also thought to have a role during cell cycle progession. Several alternatively spliced transcript variants have been described for this gene, however, not all of them are fully characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","KEAP1","chr19",10599973,10599973,"NM_012289","C","A","stopgain","SNM","NA","NA","NA","c.1603G>T","p.E535*","NA",0.305556,108,0.012987,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","kelch like ECH associated protein 1","INrf2, KLHL19","This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAEA","chr4",1330656,1330656,"NM_001017405","T","G","missense","SNM","NA","NA","NA","c.773T>G","p.L258R","NA",0.206897,174,0.0265487,113,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","malate dehydrogenase, decarboxylating, NAD-requiring; malic enzyme","b1479, ECK1473, JW5238, sfcA","MaeA catalyzes four reactions: [More information is available at EcoGene: EG10948]. Escherichia coli K-12 encodes two \"malic enzymes\" which catalyze the decarboxylation of malate to form pyruvate. [More information is available at EcoCyc: EG10948].","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","POLL","chr10",103345854,103345854,"NM_001174084","C","G","missense","SNM","NA","NA","NA","c.175G>C","p.E59Q","NA",0.2,60,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DNA polymerase lambda","BETAN, POLKAPPA","This gene encodes a DNA polymerase. DNA polymerases catalyze DNA-template-directed extension of the 3'-end of a DNA strand. This particular polymerase, which is a member of the X family of DNA polymerases, likely plays a role in non-homologous end joining and other DNA repair processes. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2010]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAD54B","chr8",95411704,95411704,"NM_012415","C","A","missense","SNM","NA","NA","NA","c.1316G>T","p.S439I","NA",0.125683,183,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAD54 homolog B","RDH54","The protein encoded by this gene belongs to the DEAD-like helicase superfamily. It shares similarity with Saccharomyces cerevisiae RAD54 and RDH54, both of which are involved in homologous recombination and repair of DNA. This protein binds to double-stranded DNA, and displays ATPase activity in the presence of DNA. This gene is highly expressed in testis and spleen, which suggests active roles in meiotic and mitotic recombination. Homozygous mutations of this gene were observed in primary lymphoma and colon cancer. [provided by RefSeq, Jul 2008]","NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","RNPEPL1","chr2",241513651,241513651,"NM_018226","G","T","stopgain","SNM","NA","NA","NA","c.1060G>T","p.E354*","NA",0.276836,177,0.0232558,129,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","arginyl aminopeptidase like 1",null,null,"NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP13","chr3",179424776,179424776,"NM_003940","G","T","missense","SNM","NA","NA","NA","c.532G>T","p.D178Y","NA",0.221311,122,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 13","ISOT3, IsoT-3",null,"NA"]
["S01574","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF445","chr3",44496970,44496970,"NM_181489","C","A","missense","SNM","NA","NA","NA","c.72G>T","p.Q24H","NA",0.22619,84,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 445","ZKSCAN15, ZNF168, ZSCAN47",null,"NA"]
["S01580","LCNEC","NA","LCNEC","yes","NA","NA","NA","FTSJD2","chr6",37429325,37429325,"NM_015050","G","T","missense","SNM","NA","NA","NA","c.1096G>T","p.G366C","NA",0.0699588,243,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cap methyltransferase 1","FTSJD2, KIAA0082, MTr1, hMTr1",null,"NA"]
["S01580","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK11","chr19",1207120,1207120,"NM_000455","G","T","stopgain","SNM","NA","NA","NA","c.208G>T","p.E70*","NA","<NA>","<NA>","<NA>","<NA>","NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ABCA3","chr16",2345648,2345648,"NM_001089","A","T","missense","SNM","NA","NA","NA","c.2357T>A","p.L786Q","NA",0.78125,32,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ATP binding cassette subfamily A member 3","ABC-C, ABC3, EST111653, LBM180, SMDP3","The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","AFF2","chrX",148049190,148049190,"NM_002025","G","C","missense","SNM","NA","NA","NA","c.3235G>C","p.A1079P","NA",0.831169,77,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","AF4/FMR2 family member 2","FMR2, FMR2P, FRAXE, MRX2, OX19","This gene encodes a putative transcriptional activator that is a member of the AF4\\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to &gt;200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ALMS1","chr2",73828399,73828399,"NM_015120","G","T","missense","SNM","NA","NA","NA","c.11947G>T","p.G3983C","NA",0.492754,138,0.021978,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ALMS1, centrosome and basal body associated protein","ALSS","This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ARHGEF10L","chr1",17928690,17928690,"NM_018125","G","T","missense","SNM","NA","NA","NA","c.326G>T","p.W109L","NA",0.421875,64,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Rho guanine nucleotide exchange factor 10 like","GrinchGEF","This gene belongs to the RhoGEF subfamily of RhoGTPases. Members of this subfamily are activated by specific guanine nucleotide exchange factors (GEFs) and are involved in signal transduction. The encoded protein shows cytosolic distribution. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2016]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","BIRC3","chr11",102195533,102195533,"NM_182962","G","T","missense","SNM","NA","NA","NA","c.293G>T","p.S98I","NA",0.395161,124,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","baculoviral IAP repeat containing 3","AIP1, API2, CIAP2, HAIP1, HIAP1, MALT2, MIHC, RNF49, c-IAP2","This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CALB1","chr8",91081251,91081252,"NM_004929","CC","AA","missense","DNM","NA","NA","NA","c.346_347delinsTT","p.G116F","NA",0.247643,54,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","calbindin 1","Brain-2, CB, Calb, Calb-1",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CCKBR","chr11",6292028,6292028,"NM_176875","T","A","missense","SNM","NA","NA","NA","c.806T>A","p.L269Q","NA",0.416667,168,0,120,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cholecystokinin B receptor","CCK-B, CCK2R, GASR","This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. Alternative splicing results in multiple transcript variants. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Dec 2015]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CD6","chr11",60785806,60785806,"NM_006725","G","T","missense","SNM","NA","NA","NA","c.1883G>T","p.W628L","NA",0.521739,92,0.0178571,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","CD6 molecule","TP120","This gene encodes a protein found on the outer membrane of T-lymphocytes as well as some other immune cells. The encoded protein contains three scavenger receptor cysteine-rich (SRCR) domains and a binding site for an activated leukocyte cell adhesion molecule. The gene product is important for continuation of T cell activation. This gene may be associated with susceptibility to multiple sclerosis (PMID: 19525953, 21849685). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CENPF","chr1",214818134,214818134,"NM_016343","G","A","missense","SNM","NA","NA","NA","c.5221G>A","p.G1741S","NA",0.575,40,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","centromere protein F","CENF, CILD31, PRO1779, STROMS, hcp-1","This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CNGA4","chr11",6260637,6260637,"NM_001037329","C","A","missense","SNM","NA","NA","NA","c.86C>A","p.P29Q","NA",0.355556,45,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cyclic nucleotide gated channel alpha 4","Cgn2, rOCNC2","olfactory cyclic nucleotide gated cation channel [RGD, Feb 2006]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CNGB3","chr8",87616385,87616385,"NM_019098","C","T","missense","SNM","NA","NA","NA","c.1717G>A","p.G573R","NA",0.358491,53,0.0322581,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cyclic nucleotide gated channel beta 3","ACHM1","This gene encodes the beta subunit of a cyclic nucleotide-gated ion channel. The encoded beta subunit appears to play a role in modulation of channel function in cone photoreceptors. This heterotetrameric channel is necessary for sensory transduction, and mutations in this gene have been associated with achromatopsia 3, progressive cone dystrophy, and juvenile macular degeneration, also known as Stargardt Disease. [provided by RefSeq, Feb 2010]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","COL5A3","chr19",10079104,10079104,"NM_015719","C","T","missense","SNM","NA","NA","NA","c.4271G>A","p.G1424E","NA",0.471429,70,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","collagen type V alpha 3 chain",null,"This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the identity of the shorter messages. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CSGALNACT2","chr10",43654306,43654306,"NM_018590","A","T","stopgain","SNM","NA","NA","NA","c.805A>T","p.R269*","NA",0.724638,69,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","chondroitin sulfate N-acetylgalactosaminyltransferase 2","CHGN2, ChGn-2, GALNACT-2, GALNACT2, PRO0082, beta4GalNAcT","This gene encodes a member of the chondroitin N-acetylgalactosaminyltransferase family. The encoded protein is involved in elongation during chondroitin sulfate synthesis. Alternative splicing of this gene results in multiple transcript variants. Two related pseudogenes have been identified on chromosome X. [provided by RefSeq, Feb 2016]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","CYP46A1","chr14",100166435,100166435,"NM_006668","G","A","missense","SNM","NA","NA","NA","c.440G>A","p.R147Q","NA",0.369863,146,0.0120482,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cytochrome P450 family 46 subfamily A member 1","CP46, CYP46","This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein is expressed in the brain, where it converts cholesterol to 24S-hydroxycholesterol. While cholesterol cannot pass the blood-brain barrier, 24S-hydroxycholesterol can be secreted in the brain into the circulation to be returned to the liver for catabolism. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","DBC1","chr9",122004477,122004478,"NM_014618","TG","AT","missense","DNM","NA","NA","NA","c.426_427delinsAT","p.M143L","NA",0.457364,129,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","cell cycle and apoptosis regulator 2","DBC-1, DBC1, KIAA1967, NET35, p30 DBC, p30DBC",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","DENND4C","chr9",19346857,19346857,"NM_017925","C","T","missense","SNM","NA","NA","NA","c.3943C>T","p.P1315S","NA",0.398496,133,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","DENN domain containing 4C","C9orf55, C9orf55B, RAB10GEF, bA513M16.3",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","DMXL1","chr5",118513888,118513888,"NM_005509","G","T","stopgain","SNM","NA","NA","NA","c.7084G>T","p.G2362*","NA",0.621951,82,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Dmx like 1",null,"The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","DYX1C1","chr15",55742538,55742538,"NM_130810","T","A","missense","SNM","NA","NA","NA","c.665A>T","p.E222V","NA",0.553571,56,0.0344828,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","dyslexia susceptibility 1 candidate 1","1700010I24Rik, Dnaaf4, EKN1, b2b811.1Clo, b2b811Clo",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","EGF","chr4",110864547,110864547,"NM_001963","T","A","missense","SNM","NA","NA","NA","c.465T>A","p.S155R","NA",0.454545,44,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","epidermal growth factor","HOMG4, URG","This gene encodes a member of the epidermal growth factor superfamily. The encoded preproprotein is proteolytically processed to generate the 53-amino acid epidermal growth factor peptide. This protein acts a potent mitogenic factor that plays an important role in the growth, proliferation and differentiation of numerous cell types. This protein acts by binding with high affinity to the cell surface receptor, epidermal growth factor receptor. Defects in this gene are the cause of hypomagnesemia type 4. Dysregulation of this gene has been associated with the growth and progression of certain cancers. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed. [provided by RefSeq, Jan 2016]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ETV7","chr6",36334479,36334479,"NM_016135","C","G","missense","SNM","NA","NA","NA","c.969G>C","p.E323D","NA",0.4375,224,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ETS variant 7","TEL-2, TEL2, TELB","The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and differentiation, and are involved in oncogenesis as well. This protein is predominantly expressed in hematopoietic tissues. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene (PMID:11108721).[provided by RefSeq, May 2011]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","FBN1","chr15",48739020,48739020,"NM_000138","C","G","splicing","SNM","NA","NA","NA","c.5672_splice","e47-1","NA",0.540541,37,0.0294118,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","fibrillin 1","ACMICD, ECTOL1, FBN, GPHYSD2, MASS, MFLS, MFS1, OCTD, SGS, SSKS, WMS, WMS2","This gene encodes a member of the fibrillin family of proteins. The encoded preproprotein is proteolytically processed to generate two proteins including the extracellular matrix component fibrillin-1 and the protein hormone asprosin. Fibrillin-1 is an extracellular matrix glycoprotein that serves as a structural component of calcium-binding microfibrils. These microfibrils provide force-bearing structural support in elastic and nonelastic connective tissue throughout the body. Asprosin, secreted by white adipose tissue, has been shown to regulate glucose homeostasis. Mutations in this gene are associated with Marfan syndrome and the related MASS phenotype, as well as ectopia lentis syndrome, Weill-Marchesani syndrome, Shprintzen-Goldberg syndrome and neonatal progeroid syndrome. [provided by RefSeq, Apr 2016]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","FSIP2","chr2",186671672,186671672,"NM_173651","C","A","missense","SNM","NA","NA","NA","c.17906C>A","p.S5969Y","NA",0.578947,38,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","fibrous sheath interacting protein 2",null,"This gene encodes a protein associated with the sperm fibrous sheath. Genes encoding most of the fibrous-sheath associated proteins genes are transcribed only during the postmeiotic period of spermatogenesis. The protein encoded by this gene is specific to spermatogenic cells. Copy number variation in this gene may be associated with testicular germ cell tumors. Pseudogenes associated with this gene are reported on chromosomes 2 and X. [provided by RefSeq, Aug 2016]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","GALNT1","chr18",33270998,33270998,"NM_020474","T","C","missense","SNM","NA","NA","NA","c.1001T>C","p.L334S","NA",0.478873,71,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","polypeptide N-acetylgalactosaminyltransferase 1","GALNAC-T1","This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","GIMAP1-GIMAP5","chr7",150417246,150417246,"NM_001199577","C","T","missense","SNM","NA","NA","NA","c.154C>T","p.R52W","NA",0.230769,26,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","GIMAP1-GIMAP5 readthrough",null,"This locus represents naturally occurring readthrough transcription between the neighboring GIMAP1 (GTPase, IMAP family member 1) and GIMAP5 (GTPase, IMAP family member 5) genes on chromosome 7. Alternative splicing results in multiple readthrough transcript variants, one of which encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jan 2015]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","GPR112","chrX",135439870,135439870,"NM_153834","A","G","missense","SNM","NA","NA","NA","c.6935A>G","p.Q2312R","NA",0.945946,37,0.037037,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","G protein-coupled receptor 112",null,null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","HIST1H2AM","chr6",27860759,27860759,"NM_003514","C","A","stopgain","SNM","NA","NA","NA","c.169G>T","p.E57*","NA",0.417476,206,0.0162602,123,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","histone cluster 1 H2A family member m","H2A.1, H2A/n, H2AFN, dJ193B12.1","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the small histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","HMCN1","chr1",186072646,186072646,"NM_031935","C","A","stopgain","SNM","NA","NA","NA","c.10616C>A","p.S3539*","NA",0.431373,51,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","hemicentin 1","ARMD1, FBLN6, FIBL-6, FIBL6","This gene encodes a large extracellular member of the immunoglobulin superfamily. A similar protein in C. elegans forms long, fine tracks at specific extracellular sites that are involved in many processes such as stabilization of the germline syncytium, anchorage of mechanosensory neurons to the epidermis, and organization of hemidesmosomes in the epidermis. Mutations in this gene may be associated with age-related macular degeneration. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","HSPA12A","chr10",118435998,118435998,"NM_025015","C","A","missense","SNM","NA","NA","NA","c.1302G>T","p.K434N","NA",0.782609,184,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","heat shock protein family A (Hsp70) member 12A",null,null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ITK","chr5",156665168,156665168,"NM_005546","A","G","missense","SNM","NA","NA","NA","c.818A>G","p.Y273C","NA",0.5,50,0,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","IL2 inducible T cell kinase","Emt, Tcsk, Tsk",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","KIAA1109","chr4",123147967,123147967,"NM_015312","G","A","missense","SNM","NA","NA","NA","c.2899G>A","p.D967N","NA",0.380952,126,0.0121951,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","KIAA1109","ALKKUCS, FSA, Tweek","This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","KIF3C","chr2",26204266,26204266,"NM_002254","C","A","missense","SNM","NA","NA","NA","c.521G>T","p.G174V","NA",0.330097,103,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","kinesin family member 3C","mKIAA4058",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","LEP","chr7",127894806,127894806,"NM_000230","C","A","missense","SNM","NA","NA","NA","c.494C>A","p.P165H","NA",0.486486,37,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","leptin","ob, obese",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","LRIG1","chr3",66436552,66436552,"NM_015541","C","A","missense","SNM","NA","NA","NA","c.1642G>T","p.V548F","NA",0.8,40,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","leucine rich repeats and immunoglobulin like domains 1","LIG-1, LIG1",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","LRWD1","chr7",102109419,102109419,"NM_152892","C","A","missense","SNM","NA","NA","NA","c.1138C>A","p.R380S","NA",0.5,32,0,18,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","leucine rich repeats and WD repeat domain containing 1","CENP-33, ORCA","The protein encoded by this gene interacts with components of the origin recognition complex (ORC) and regulates the formation of the prereplicative complex. The encoded protein stabilizes the ORC and therefore aids in DNA replication. This protein is required for the G1/S phase transition of the cell cycle. In addition, the encoded protein binds to trimethylated histone H3 in heterochromatin and recruits the ORC and lysine methyltransferases, which help maintain the repressive heterochromatic state. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","MED16","chr19",880125,880125,"NM_005481","C","A","missense","SNM","NA","NA","NA","c.1165G>T","p.G389C","NA",0.54902,51,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","mediator complex subunit 16","DRIP92, THRAP5, TRAP95",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","MS4A7","chr11",60150651,60150651,"NM_021201","A","T","missense","SNM","NA","NA","NA","c.37A>T","p.S13C","NA",0.423529,85,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","membrane spanning 4-domains A7","4SPAN2, CD20L4, CFFM4, MS4A8","This gene encodes a member of the membrane-spanning 4A gene family, members of which are characterized by common structural features and similar intron/exon splice boundaries and display unique expression patterns in hematopoietic cells and nonlymphoid tissues. This family member is associated with mature cellular function in the monocytic lineage, and it may be a component of a receptor complex involved in signal transduction. This gene is localized to 11q12, in a cluster of other family members. At least four alternatively spliced transcript variants encoding two distinct isoforms have been observed. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","NAV3","chr12",78562604,78562604,"NM_014903","G","T","missense","SNM","NA","NA","NA","c.4939G>T","p.A1647S","NA",0.560976,41,0,21,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neuron navigator 3","POMFIL1, STEERIN3, unc53H3","This gene belongs to the neuron navigator family and is expressed predominantly in the nervous system. The encoded protein contains coiled-coil domains and a conserved AAA domain characteristic for ATPases associated with a variety of cellular activities. This gene is similar to unc-53, a Caenorhabditis elegans gene involved in axon guidance. Multiple alternatively spliced transcript variants for this gene have been described but only one has had its full-length nature determined. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","NEO1","chr15",73551137,73551137,"NM_002499","G","T","missense","SNM","NA","NA","NA","c.2123G>T","p.R708L","NA",0.541667,48,0.0196078,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neogenin 1","IGDCC2, NGN, NTN1R2","This gene encodes a cell surface protein that is a member of the immunoglobulin superfamily. The encoded protein consists of four N-terminal immunoglobulin-like domains, six fibronectin type III domains, a transmembrane domain and a C-terminal internal domain that shares homology with the tumor suppressor candidate gene DCC. This protein may be involved in cell growth and differentiation and in cell-cell adhesion. Defects in this gene are associated with cell proliferation in certain cancers. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","NETO1","chr18",70451123,70451123,"NM_001201465","C","A","missense","SNM","NA","NA","NA","c.658G>T","p.D220Y","NA",0.360656,61,0.030303,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neuropilin (NRP) and tolloid (TLL)-like 1","AI851453, Btcl1, C130005O10Rik",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","NTM","chr11",132082005,132082005,"NM_001144058","G","A","missense","SNM","NA","NA","NA","c.490G>A","p.E164K","NA",0.385185,135,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","neurotrimin","CEPU-1, HNT, IGLON2, NTRI","This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR10C1","chr6",29408444,29408444,"NM_013941","G","T","missense","SNM","NA","NA","NA","c.652G>T","p.G218W","NA",0.395833,48,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 10 subfamily C member 1 (gene/pseudogene)","OR10C1P, OR10C2, OR6-31, hs6M1-17","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. This olfactory receptor gene is a segregating pseudogene, where some individuals have an allele that encodes a functional olfactory receptor, while other individuals have an allele encoding a protein that is predicted to be non-functional. [provided by RefSeq, Jul 2015]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR13A1","chr10",45798912,45798912,"NM_001004297","C","A","missense","SNM","NA","NA","NA","c.959G>T","p.R320M","NA",0.826087,46,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 13 subfamily A member 1",null,"Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR4N2","chr14",20296123,20296123,"NM_001004723","C","A","missense","SNM","NA","NA","NA","c.516C>A","p.N172K","NA",0.487805,41,0.037037,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 4 subfamily N member 2","OR14-13, OR14-8","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a seven-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Mar 2014]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","OR8B8","chr11",124310510,124310510,"NM_012378","C","A","missense","SNM","NA","NA","NA","c.472G>T","p.A158S","NA",0.388309,479,0.012766,235,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","olfactory receptor family 8 subfamily B member 8","TPCR85","Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PAPPA","chr9",118969839,118969839,"NM_002581","T","G","missense","SNM","NA","NA","NA","c.1583T>G","p.V528G","NA",0.396552,58,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","pappalysin 1","ASBABP2, DIPLA1, IGFBP-4ase, PAPA, PAPP-A, PAPPA1","This gene encodes a secreted metalloproteinase which cleaves insulin-like growth factor binding proteins (IGFBPs). Following IGFBP cleavage, insulin growth factors dissociate from IGFBPs and bind to IGF receptors, resulting in activation of the IGF pathway. The encoded protein plays a role in bone formation, inflammation, wound healing and female fertility. Enhanced expression of this protein is associated with diabetic nephropathy in human patients and this protein may promote tumor invasion and growth in various human cancers. [provided by RefSeq, Aug 2017]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PCDH15","chr10",55582793,55582793,"NM_001142763","C","G","missense","SNM","NA","NA","NA","c.4714G>C","p.G1572R","NA",0.897959,49,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","protocadherin related 15","CDHR15, DFNB23, USH1F","This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PCDHB5","chr5",140515928,140515928,"NM_015669","G","T","missense","SNM","NA","NA","NA","c.912G>T","p.R304S","NA",0.490566,53,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","protocadherin beta 5","PCDH-BETA5","This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PDZD2","chr5",31983590,31983590,"NM_178140","G","A","missense","SNM","NA","NA","NA","c.806G>A","p.G269D","NA",0.37931,87,0.0294118,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","PDZ domain containing 2","AIPC, PAPIN, PDZK3, PIN1","The protein encoded by this gene contains six PDZ domains and shares sequence similarity with pro-interleukin-16 (pro-IL-16). Like pro-IL-16, the encoded protein localizes to the endoplasmic reticulum and is thought to be cleaved by a caspase to produce a secreted peptide containing two PDZ domains. In addition, this gene is upregulated in primary prostate tumors and may be involved in the early stages of prostate tumorigenesis. [provided by RefSeq, Dec 2015]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PKD1L1","chr7",47944179,47944179,"NM_138295","C","A","missense","SNM","NA","NA","NA","c.1727G>T","p.S576I","NA",0.5,40,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","polycystin 1 like 1, transient receptor potential channel interacting","HTX8, PRO19563","This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PLCB4","chr20",9371190,9371190,"NM_000933","G","T","missense","SNM","NA","NA","NA","c.1251G>T","p.Q417H","NA",0.333333,57,0.0238095,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phospholipase C beta 4","ARCND2, PI-PLC","The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2010]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PPAPDC3","chr9",134165478,134165478,"NM_032728","G","T","missense","SNM","NA","NA","NA","c.94G>T","p.G32C","NA",0.378378,37,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","phosphatidic acid phosphatase type 2 domain containing 3",null,null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PRDM9","chr5",23522877,23522877,"NM_020227","G","T","missense","SNM","NA","NA","NA","c.765G>T","p.Q255H","NA",0.571429,56,0.0188679,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","PR domain containing 9","BC012016, Dsbc1, G1-419-29, Meisetz, PRDM9-B, Rcr1, repro7",null,"Meth"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","PTPRC","chr1",198687250,198687250,"NM_002838","T","C","missense","SNM","NA","NA","NA","c.1478T>C","p.V493A","NA",0.448276,87,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","protein tyrosine phosphatase, receptor type, C","B220, CD45R, Cd45, L-CA, Ly-5, Lyt-4, T200, loc",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","RFX3","chr9",3270377,3270377,"NM_134428","T","C","missense","SNM","NA","NA","NA","c.1351A>G","p.I451V","NA",0.402174,92,0.02,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","regulatory factor X, 3 (influences HLA class II expression)","C230093O12Rik, MRFX3",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","RNASE11","chr14",21052284,21052284,"NM_145250","C","A","missense","SNM","NA","NA","NA","c.350G>T","p.S117I","NA",0.357843,204,0,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","ribonuclease A family member 11 (inactive)","C14orf6, HEL-S-84p, RAJ1",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","SARS","chr1",109778682,109778682,"NM_006513","C","G","missense","SNM","NA","NA","NA","c.1053C>G","p.F351L","NA",0.446429,56,0,24,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","seryl-tRNA synthetase","NEDMAS, SERRS, SERS","This gene belongs to the class II amino-acyl tRNA family. The encoded enzyme catalyzes the transfer of L-serine to tRNA (Ser) and is related to bacterial and yeast counterparts. Multiple alternatively spliced transcript variants have been described but the biological validity of all variants is unknown. [provided by RefSeq, Jul 2010]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","SEPSECS","chr4",25158580,25158580,"NM_016955","C","A","stopgain","SNM","NA","NA","NA","c.286G>T","p.G96*","NA",0.377358,106,0.0192308,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase","LP, PCH2D, SLA, SLA/LP","The amino acid selenocysteine is the only amino acid that does not have its own tRNA synthetase. Instead, this amino acid is synthesized on its cognate tRNA in a three step process. The protein encoded by this gene catalyzes the third step in the process, the conversion of O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec).[provided by RefSeq, Mar 2011]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","SHANK1","chr19",51200874,51200874,"NM_016148","C","A","missense","SNM","NA","NA","NA","c.1909G>T","p.G637C","NA",0.406542,214,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","SH3 and multiple ankyrin repeat domains 1","Shank1a, Spank1, Sstrip","a scaffold protein in the post synaptic density that forms a complex with GKAP and PSD-95 [RGD, Feb 2006]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC13A5","chr17",6599061,6599061,"NM_177550","C","A","missense","SNM","NA","NA","NA","c.1039G>T","p.V347L","NA",0.88,25,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 13 member 5","EIEE25, INDY, NACT, mIndy","This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","SLC9A3","chr5",484773,484773,"NM_004174","C","A","missense","SNM","NA","NA","NA","c.794G>T","p.G265V","NA",0.327586,58,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","solute carrier family 9 (sodium/hydrogen exchanger), member 3","9030624O13Rik, AI930210, NHE-3, NHE3",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","SPAG17","chr1",118634318,118634318,"NM_206996","C","G","missense","SNM","NA","NA","NA","c.1270G>C","p.V424L","NA",0.38835,103,0.0192308,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","sperm associated antigen 17","CT143, PF6","This gene encodes a central pair protein present in the axonemes of cells with a \"9 + 2\" organization of microtubules. The encoded protein is required for the proper function of the axoneme. Mutations in the orthologous gene in mice lead to primary ciliary dyskinesia characterized by immotile nasal and tracheal cilia, reduced clearance of nasal mucus, profound respiratory distress, hydrocephalus, and neonatal lethality within twelve hours of birth due to impaired airway mucociliary clearance. Single-nucleotide polymorphisms in this gene are associated with human height and targeted mutations lead to skeletal malformations affecting the limbs in mice, suggesting a role for this gene in skeletal development. [provided by RefSeq, Feb 2017]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","STXBP5","chr6",147694951,147694951,"NM_001127715","G","C","missense","SNM","NA","NA","NA","c.3166G>C","p.A1056P","NA",0.450704,71,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","syntaxin binding protein 5","LGL3, LLGL3, Nbla04300","Syntaxin 1 is a component of the 7S and 20S SNARE complexes which are involved in docking and fusion of synaptic vesicles with the presynaptic plasma membrane. This gene encodes a syntaxin 1 binding protein. In rat, a similar protein dissociates syntaxin 1 from the Munc18/n-Sec1/rbSec1 complex to form a 10S complex, an intermediate which can be converted to the 7S SNARE complex. Thus this protein is thought to be involved in neurotransmitter release by stimulating SNARE complex formation. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","STYXL1","chr7",75634626,75634626,"NM_016086","C","A","missense","SNM","NA","NA","NA","c.550G>T","p.D184Y","NA",0.315789,76,0.0151515,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","serine/threonine/tyrosine interacting like 1","DUSP24, MK-STYX, MKSTYX",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","TGIF2LX","chrX",89177103,89177103,"NM_138960","G","T","missense","SNM","NA","NA","NA","c.19G>T","p.G7C","NA",0.961538,26,0,16,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TGFB induced factor homeobox 2 like X-linked","TGIFLX","This gene encodes a member of the TALE/TGIF homeobox family of transcription factors. Testis-specific expression suggests that this gene may play a role in spermatogenesis. A homolog of this gene lies within the male specific region of chromosome Y, in a block of sequence that is thought to be the result of a large X-to-Y transposition. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","TMEM143","chr19",48846034,48846034,"NM_018273","C","A","missense","SNM","NA","NA","NA","c.728G>T","p.R243L","NA",0.483871,124,0.0172414,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","transmembrane protein 143","2310076O21Rik, AI481604",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","TNFSF13B","chr13",108955814,108955814,"NM_006573","G","C","missense","SNM","NA","NA","NA","c.607G>C","p.D203H","NA",0.538889,180,0.02,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","TNF superfamily member 13b","BAFF, BLYS, CD257, DTL, TALL-1, TALL1, THANK, TNFSF20, TNLG7A, ZTNF4","The protein encoded by this gene is a cytokine that belongs to the tumor necrosis factor (TNF) ligand family. This cytokine is a ligand for receptors TNFRSF13B/TACI, TNFRSF17/BCMA, and TNFRSF13C/BAFFR. This cytokine is expressed in B cell lineage cells, and acts as a potent B cell activator. It has been also shown to play an important role in the proliferation and differentiation of B cells. Alternatively spliced transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2011]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","TP53","chr17",7578455,7578455,"NM_000546","C","G","missense","SNM","NA","NA","NA","c.475G>C","p.A159P","NA",0.71028,107,0.0263158,76,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","TTF2","chr1",117644107,117644107,"NM_003594","G","T","missense","SNM","NA","NA","NA","c.3450G>T","p.K1150N","NA",0.377778,135,0.0178571,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","transcription termination factor 2","HuF2, ZGRF6","This gene encodes a member of the SWI2/SNF2 family of proteins, which play a critical role in altering protein-DNA interactions. The encoded protein has been shown to have dsDNA-dependent ATPase activity and RNA polymerase II termination activity. This protein interacts with cell division cycle 5-like, associates with human splicing complexes, and plays a role in pre-mRNA splicing. [provided by RefSeq, Jul 2008]","NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","UTRN","chr6",144758818,144758818,"NM_007124","C","T","stopgain","SNM","NA","NA","NA","c.1177C>T","p.Q393*","NA",0.416667,108,0.0188679,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","utrophin","AA589569, DRP, Dmdl",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","XIRP2","chr2",168102883,168102883,"NM_152381","C","G","missense","SNM","NA","NA","NA","c.4981C>G","p.Q1661E","NA",0.223881,67,0,28,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","xin actin-binding repeat containing 2","2310003D02Rik, 2310008C07Rik, A530024P18Rik, AI452089, Cmya3, Gm352, Xin2",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZAK","chr2",173955829,173955829,"NM_016653","G","T","stopgain","SNM","NA","NA","NA","c.70G>T","p.G24*","NA",0.619048,42,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","sterile alpha motif and leucine zipper containing kinase AZK","si:dkey-15i8.3",null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF229","chr19",44933830,44933830,"NM_014518","G","T","missense","SNM","NA","NA","NA","c.1126C>A","p.P376T","NA",375,40,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 229",null,null,"NA"]
["S01581","LCNEC","NA","LCNEC","yes","yes","NA","NA","ZNF804A","chr2",185801643,185801643,"NM_194250","G","T","missense","SNM","NA","NA","NA","c.1520G>T","p.G507V","NA",0.409091,22,0,17,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","WGS","NA","NA","NA","NA","zinc finger protein 804A","C2orf10","The protein encoded by this gene is a zinc finger binding protein. Polymorphisms in this gene, especially rs1344706, are thought to confer increased susceptibility to schizophrenia, bipolar disorder, and heroin addiciton. [provided by RefSeq, Nov 2015]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","ABAT","chr16",8866766,8866766,"NM_020686","G","T","missense","SNM","NA","NA","NA","c.946G>T","p.A316S","NA",0.326241,141,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","4-aminobutyrate aminotransferase","Gabat, beta-AlaAT","main component of the 4-aminobutyrate (GABA) shunt; major inhibitory neurotransmitter [RGD, Feb 2006]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","ABP1","chr7",150554110,150554110,"NM_001091","C","A","missense","SNM","NA","NA","NA","c.552C>A","p.F184L","NA",0.161538,130,0.0243902,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Abp1p","YCR088W",null,"NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATMIN","chr16",81077295,81077295,"NM_015251","G","T","stopgain","SNM","NA","NA","NA","c.1192G>T","p.E398*","NA",0.367647,136,0.0327869,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATM interactor","ASCIZ, ZNF822",null,"NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","CDK19","chr6",110935827,110935827,"NM_015076","A","C","missense","SNM","NA","NA","NA","c.1420T>G","p.S474A","NA",0.201923,208,0.0285714,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cyclin dependent kinase 19","CDC2L6, CDK11, bA346C16.3","This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM160A2","chr11",6244863,6244863,"NM_032127","C","T","missense","SNM","NA","NA","NA","c.754G>A","p.A252T","NA",0.397059,68,0.0434783,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 160 member A2","C11orf56, FHIP","The protein encoded by this gene is part of the FTS/Hook/FHIP (FHF) complex, which can interact with members of the homotypic vesicular protein sorting (HOPS) complex. This interaction suggests that the encoded protein is involved in vesicle trafficking. [provided by RefSeq, Dec 2016]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAN1","chr15",31200453,31200453,"NM_014967","T","G","missense","SNM","NA","NA","NA","c.1367T>G","p.L456R","NA",0.425743,101,0.0263158,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FANCD2 and FANCI associated nuclease 1","KIAA1018, KMIN, MTMR15, hFAN1","This gene plays a role in DNA interstrand cross-link repair and encodes a protein with 5' flap endonuclease and 5'-3' exonuclease activity. Mutations in this gene cause karyomegalic interstitial nephritis. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Feb 2016]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","IMP4","chr2",131103373,131103373,"NM_033416","T","G","missense","SNM","NA","NA","NA","c.461T>G","p.L154R","NA",0.138643,339,0.0181818,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","snoRNA-binding rRNA-processing protein IMP4","YNL075W",null,"NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","NDUFA10","chr2",240954160,240954160,"NM_004544","C","T","missense","SNM","NA","NA","NA","c.665G>A","p.G222E","NA",0.204545,132,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NADH:ubiquinone oxidoreductase subunit A10","CI-42KD, CI-42k","The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","NTM","chr11",132180025,132180025,"NM_001144058","A","C","missense","SNM","NA","NA","NA","c.681A>C","p.E227D","NA",0.2,95,0.0357143,28,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","neurotrimin","CEPU-1, HNT, IGLON2, NTRI","This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAPGEF6","chr5",130834211,130834211,"NM_001164386","C","A","missense","SNM","NA","NA","NA","c.1344G>T","p.R448S","NA",0.218182,55,0,21,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rap guanine nucleotide exchange factor 6","KIA001LB, PDZ-GEF2, PDZGEF2, RA-GEF-2, RAGEF2",null,"NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578394,7578394,"NM_000546","T","C","missense","SNM","NA","NA","NA","c.536A>G","p.H179R","NA",0.3125,160,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","UTP6","chr17",30200742,30200742,"NM_018428","C","A","stopgain","SNM","NA","NA","NA","c.1336G>T","p.E446*","NA",0.277533,227,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","UTP6, small subunit processome component","C17orf40, HCA66",null,"NA"]
["S01586","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF585B","chr19",37676550,37676550,"NM_152279","C","G","missense","SNM","NA","NA","NA","c.1889G>C","p.G630A","NA",0.328767,292,0.0235294,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 585B","SZFP41",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","AARS2","chr6",44274076,44274076,"NM_020745","C","A","missense","SNM","NA","NA","NA","c.1241G>T","p.R414L","NA",0.225806,93,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","alanyl-tRNA synthetase 2, mitochondrial","AARSL, COXPD8, LKENP, MT-ALARS, MTALARS","The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","AHNAK","chr11",62291492,62291492,"NM_001620","T","A","missense","SNM","NA","NA","NA","c.10397A>T","p.H3466L","NA",0.525,80,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","AHNAK nucleoprotein","AHNAKRS, PM227","The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","AP1S2","chrX",15864047,15864047,"NM_003916","T","A","missense","SNM","NA","NA","NA","c.267A>T","p.L89F","NA",0.322034,59,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","adaptor related protein complex 1 subunit sigma 2","DC22, MRX59, MRXS21, MRXS5, MRXSF, PGS, SIGMA1B","Adaptor protein complex 1 is found at the cytoplasmic face of coated vesicles located at the Golgi complex, where it mediates both the recruitment of clathrin to the membrane and the recognition of sorting signals within the cytosolic tails of transmembrane receptors. This complex is a heterotetramer composed of two large, one medium, and one small adaptin subunit. The protein encoded by this gene serves as the small subunit of this complex and is a member of the adaptin protein family. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2013]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","ASCC2","chr22",30186482,30186482,"NM_032204","C","A","missense","SNM","NA","NA","NA","c.2078G>T","p.R693L","NA",0.705882,17,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","activating signal cointegrator 1 complex subunit 2","ASC1p100, p100",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATF5","chr19",50436224,50436224,"NM_012068","G","C","missense","SNM","NA","NA","NA","c.724G>C","p.G242R","NA",0.204545,44,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","activating transcription factor 5","ATFX, HMFN0395",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","C12orf39","chr12",21681977,21681977,"NM_030572","C","A","missense","SNM","NA","NA","NA","c.251C>A","p.A84E","NA",0.401914,209,0,149,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","spexin hormone","C12orf39","The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","CCDC58","chr3",122087064,122087064,"NM_001017928","C","G","missense","SNM","NA","NA","NA","c.283G>C","p.D95H","NA",0.285714,49,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","coiled-coil domain containing 58",null,null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","CENPJ","chr13",25486916,25486916,"NM_018451","T","G","missense","SNM","NA","NA","NA","c.248A>C","p.N83T","NA",0.6875,64,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centromere protein J","BM032, CENP-J, CPAP, LAP, LIP1, MCPH6, SASS4, SCKL4, Sas-4","This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kappaB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and cognitive disability. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","CENPQ","chr6",49448725,49448725,"NM_018132","G","T","missense","SNM","NA","NA","NA","c.409G>T","p.V137L","NA",0.456522,46,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centromere protein Q","C6orf139, CENP-Q","CENPQ is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006 [PubMed 16622420]).[supplied by OMIM, Mar 2008]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","CORO1C","chr12",109046130,109046130,"NM_014325","T","G","missense","SNM","NA","NA","NA","c.919A>C","p.T307P","NA",0.187097,155,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","coronin 1C","HCRNN4","This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2013]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","DAB2","chr5",39376922,39376922,"NM_001343","T","C","missense","SNM","NA","NA","NA","c.1967A>G","p.K656R","NA",0.238095,42,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DAB2, clathrin adaptor protein","DOC-2, DOC2","This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","FHOD3","chr18",34320731,34320731,"NM_025135","C","A","missense","SNM","NA","NA","NA","c.3164C>A","p.S1055Y","NA",0.35,40,0,70,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","formin homology 2 domain containing 3","FHOS2, Formactin2","The protein encoded by this gene is a member of the diaphanous-related formins (DRF), and contains multiple domains, including GBD (GTPase-binding domain), DID (diaphanous inhibitory domain), FH1 (formin homology 1), FH2 (formin homology 2), and DAD (diaphanous auto-regulatory domain) domains. This protein is thought to play a role in actin filament polymerization in cardiomyocytes. Mutations in this gene have been associated with dilated cardiomyopathy (DCM), characterized by dilation of the ventricular chamber, leading to impairment of systolic pump function and subsequent heart failure. Increased levels of the protein encoded by this gene have been observed in individuals with hypertrophic cardiomyopathy (HCM). Alternative splicing results in multiple transcript variants encoding different isoforms. A muscle-specific isoform has been shown to possess a casein kinase 2 (CK2) phosphorylation site at the C-terminal end of the FH2 domain. Phosphorylation of this site alters its interaction with sequestosome 1 (SQSTM1), and targets this isoform to myofibrils, while other isoforms form cytoplasmic aggregates. [provided by RefSeq, Aug 2015]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","GDAP1","chr8",75274133,75274133,"NM_018972","A","T","missense","SNM","NA","NA","NA","c.499A>T","p.T167S","NA",0.132075,53,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ganglioside induced differentiation associated protein 1","CMT4, CMT4A, CMTRIA","This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms and a noncoding variant have been identified for this gene. [provided by RefSeq, Feb 2012]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","GPR137B","chr1",236341776,236341776,"NM_003272","G","T","missense","SNM","NA","NA","NA","c.527G>T","p.C176F","NA",0.485714,70,0.0113636,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","G protein-coupled receptor 137B","AI788917, AU016435, AW546472, C730041E01, C80550, C80741, D13Abb1e, Tm7sf1",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","HIST1H2BD","chr6",26158476,26158476,"NM_021063","G","C","missense","SNM","NA","NA","NA","c.79G>C","p.G27R","NA",0.27044,158,0,173,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone cluster 1 H2B family member d","H2B.1B, H2B/a, H2B/b, H2B/g, H2B/h, H2B/k, H2B/l, H2BFA, H2BFB, H2BFG, H2BFH, H2BFK, H2BFL, HIRIP2, HIST1H2BC, HIST1H2BE, HIST1H2BF, HIST1H2BG, HIST1H2BI, dJ221C16.6","Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Two transcripts that encode the same protein have been identified for this gene, which is found in the large histone gene cluster on chromosome 6p22-p21.3. [provided by RefSeq, Aug 2015]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","ITGB5","chr3",124536529,124536529,"NM_002213","G","T","missense","SNM","NA","NA","NA","c.1067C>A","p.T356K","NA",0.428571,35,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","integrin subunit beta 5",null,"This gene encodes a beta subunit of integrin, which can combine with different alpha chains to form a variety of integrin heterodimers. Integrins are integral cell-surface receptors that participate in cell adhesion as well as cell-surface mediated signaling. The alphav beta5 integrin is involved in adhesion to vitronectin. [provided by RefSeq, Aug 2017]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","KDM3B","chr5",137733898,137733898,"NM_016604","G","A","missense","SNM","NA","NA","NA","c.2863G>A","p.V955M","NA",0.376812,69,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine demethylase 3B","5qNCA, C5orf7, JMJD1B, NET22",null,"Demeth"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","KLRC4","chr12",10560365,10560365,"NM_013431","C","T","missense","SNM","NA","NA","NA","c.364G>A","p.E122K","NA",0.463087,149,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","killer cell lectin like receptor C4","NKG2-F, NKG2F","Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family member is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell lectin-like receptor subfamily K, member 1) family member. [provided by RefSeq, Dec 2010]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","MARK2","chr11",63672295,63672295,"NM_001039469","G","T","missense","SNM","NA","NA","NA","c.1714G>T","p.A572S","NA",0.222222,80,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","microtubule affinity regulating kinase 2","EMK-1, EMK1, PAR-1, Par-1b, Par1b","This gene encodes a member of the Par-1 family of serine/threonine protein kinases. The protein is an important regulator of cell polarity in epithelial and neuronal cells, and also controls the stability of microtubules through phosphorylation and inactivation of several microtubule-associating proteins. The protein localizes to cell membranes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2009]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDCD4","chr10",112650350,112650350,"NM_014456","G","A","missense","SNM","NA","NA","NA","c.912G>A","p.M304I","NA",0.480769,104,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","programmed cell death 4","H731","This gene is a tumor suppressor and encodes a protein that binds to the eukaryotic translation initiation factor 4A1 and inhibits its function by preventing RNA binding. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","PHACTR4","chr1",28800627,28800627,"NM_023923","C","T","missense","SNM","NA","NA","NA","c.1415C>T","p.T472I","NA",0.3,130,0,152,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatase and actin regulator 4","3110001B12Rik, AI527228, AW495572, C330013F19Rik, N28169, mKIAA4120",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLEKHA1","chr10",124183766,124183766,"NM_021622","G","T","stopgain","SNM","NA","NA","NA","c.733G>T","p.E245*","NA",0.25,32,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pleckstrin homology domain containing A1","TAPP1","This gene encodes a pleckstrin homology domain-containing adapter protein. The encoded protein is localized to the plasma membrane where it specifically binds phosphatidylinositol 3,4-bisphosphate. This protein may be involved in the formation of signaling complexes in the plasma membrane. Polymorphisms in this gene are associated with age-related macular degeneration. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5.[provided by RefSeq, Sep 2010]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","POLR3E","chr16",22343385,22343385,"NM_018119","G","T","missense","SNM","NA","NA","NA","c.1949G>T","p.R650L","NA",0.441176,34,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA polymerase III subunit E","RPC5, SIN",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","PTBP2","chr1",97243447,97243447,"NM_021190","A","G","missense","SNM","NA","NA","NA","c.653A>G","p.Q218R","NA",0.325,40,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polypyrimidine tract binding protein 2","PTBLP, brPTB, nPTB","The protein encoded by this gene binds to intronic polypyrimidine clusters in pre-mRNA molecules and is implicated in controlling the assembly of other splicing-regulatory proteins. This protein is very similar to the polypyrimidine tract binding protein (PTB) but most of its isoforms are expressed primarily in the brain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","PTGFRN","chr1",117509635,117509635,"NM_020440","C","T","missense","SNM","NA","NA","NA","c.1742C>T","p.P581L","NA",0.205882,34,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","prostaglandin F2 receptor inhibitor","CD315, CD9P-1, EWI-F, FPRP, SMAP-6",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","RBM19","chr12",114397067,114397067,"NM_016196","G","A","missense","SNM","NA","NA","NA","c.521C>T","p.S174F","NA",0.222973,148,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA binding motif protein 19","Mrd1","This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","RIMBP2","chr12",130892374,130892374,"NM_015347","T","A","missense","SNM","NA","NA","NA","c.2822A>T","p.E941V","NA",0.385093,161,0,117,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RIMS binding protein 2","PPP1R133, RBP2, RIM-BP2",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","SARS2","chr19",39406518,39406518,"NM_001145901","C","A","missense","SNM","NA","NA","NA","c.1382G>T","p.R461L","NA",0.36,75,0,107,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","seryl-tRNA synthetase 2, mitochondrial","SARS, SARSM, SERS, SYS, SerRS, SerRSmt, mtSerRS","This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","SEC23A","chr14",39554995,39554995,"NM_006364","C","A","missense","SNM","NA","NA","NA","c.799G>T","p.A267S","NA",0.42487,193,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Sec23 homolog A, coat complex II component","CLSD, hSec23A","The protein encoded by this gene is a member of the SEC23 subfamily of the SEC23/SEC24 family. It is part of a protein complex and found in the ribosome-free transitional face of the endoplasmic reticulum (ER) and associated vesicles. This protein has similarity to yeast Sec23p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The encoded protein is suggested to play a role in the ER-Golgi protein trafficking. [provided by RefSeq, Jul 2008]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","SEC24C","chr10",75529650,75529650,"NM_004922","G","C","missense","SNM","NA","NA","NA","c.2739G>C","p.K913N","NA",0.185714,140,0,174,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SEC24 homolog C, COPII coat complex component",null,"The protein encoded by this gene is a member of the SEC24 subfamily of the SEC23/SEC24 family, which is involved in vesicle trafficking. The encoded protein has similarity to yeast Sec24p component of COPII. COPII is the coat protein complex responsible for vesicle budding from the ER. The product of this gene may play a role in shaping the vesicle, as well as in cargo selection and concentration. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","SIPA1L1","chr14",72055622,72055622,"NM_015556","G","C","missense","SNM","NA","NA","NA","c.1033G>C","p.E345Q","NA",0.363636,33,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","signal-induced proliferation-associated 1 like 1","SPAL, Spa-1, Spa1, Spar","GTPase-activating protein (GAP) that is specific for Rap1; may be involved in cytoskeletal organization of neurons [RGD, Feb 2006]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","SP4","chr7",21470293,21470293,"NM_003112","G","T","missense","SNM","NA","NA","NA","c.1510G>T","p.G504C","NA",0.442177,147,0,151,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Sp4 transcription factor","HF1B, SPR-1","The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPG21","chr15",65273212,65273212,"NM_016630","C","A","missense","SNM","NA","NA","NA","c.215G>T","p.R72L","NA",0.176471,34,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SPG21, maspardin","ACP33, BM-019, GL010, MAST","The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM8A","chr16",422136,422136,"NM_021259","T","A","missense","SNM","NA","NA","NA","c.2167A>T","p.S723C","NA",0.241379,58,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 8A","GPI-PLA2, M83, PGAP6, TMEM6, TMEM8",null,"NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","TSC2","chr16",2126499,2126499,"NM_000548","G","T","missense","SNM","NA","NA","NA","c.2750G>T","p.R917L","NA",0.2,90,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TSC complex subunit 2","LAM, PPP1R160, TSC4","Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","UGGT1","chr2",128886634,128886634,"NM_020120","G","T","missense","SNM","NA","NA","NA","c.1258G>T","p.V420L","NA",0.571429,63,0,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","UDP-glucose glycoprotein glucosyltransferase 1","HUGT1, UGCGL1, UGT1","UDP-glucose:glycoprotein glucosyltransferase (UGT) is a soluble protein of the endoplasmic reticulum (ER) that selectively reglucosylates unfolded glycoproteins, thus providing quality control for protein transport out of the ER.[supplied by OMIM, Oct 2009]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","VAV2","chr9",136641177,136641177,"NM_001134398","C","A","missense","SNM","NA","NA","NA","c.1991G>T","p.R664L","NA",0.325581,43,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","vav guanine nucleotide exchange factor 2","VAV-2","VAV2 is the second member of the VAV guanine nucleotide exchange factor family of oncogenes. Unlike VAV1, which is expressed exclusively in hematopoietic cells, VAV2 transcripts were found in most tissues. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","WNK1","chr12",994631,994631,"NM_001184985","G","C","missense","SNM","NA","NA","NA","c.5441G>C","p.G1814A","NA",0.452282,482,0,369,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WNK lysine deficient protein kinase 1","HSAN2, HSN2, KDP, PPP1R167, PRKWNK1, PSK, p65","This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]","NA"]
["S01707","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF254","chr19",24310732,24310732,"NM_203282","C","T","missense","SNM","NA","NA","NA","c.1930C>T","p.H644Y","NA",0.31405,121,0,123,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 254","BMZF-5, HD-ZNF1, ZNF539, ZNF91L","Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See ZFP93 (MIM 604749) for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTS12","chr5",33576476,33576476,"NM_030955","C","A","stopgain","SNM","NA","NA","NA","c.3655G>T","p.G1219*","NA",0.358209,335,0,257,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 12","PRO4389","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARHGEF12","chr11",120346150,120346150,"NM_015313","G","C","missense","SNM","NA","NA","NA","c.3211G>C","p.D1071H","NA",0.294444,180,0,153,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho guanine nucleotide exchange factor 12","LARG, PRO2792","Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP5G2","chr12",54062975,54062975,"NM_005176","C","A","missense","SNM","NA","NA","NA","c.439G>T","p.G147W","NA",0.52439,164,0,136,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP synthase, H+ transporting, mitochondrial F0 complex, subunit C2 (subunit 9)","1810041M08Rik, Atp5mc2",null,"NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHORDC1","chr11",89939436,89939436,"NM_012124","T","A","missense","SNM","NA","NA","NA","c.497A>T","p.Y166F","NA",0.4,20,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cysteine and histidine rich domain containing 1","CHP1",null,"NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","ESCO1","chr18",19154231,19154231,"NM_052911","G","C","missense","SNM","NA","NA","NA","c.574C>G","p.L192V","NA",0.344262,61,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","establishment of sister chromatid cohesion N-acetyltransferase 1","A930014I12Rik, CTF, ECO1, EFO1, ESO1","ESCO1 belongs to a conserved family of acetyltransferases involved in sister chromatid cohesion (Hou and Zou, 2005 [PubMed 15958495]).[supplied by OMIM, Mar 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","FGF13","chrX",137717734,137717734,"NM_001139500","T","G","missense","SNM","NA","NA","NA","c.515A>C","p.Q172P","NA",0.311111,90,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fibroblast growth factor 13","FGF-13, FGF2, FHF-2, FHF2","The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This gene is located in a region on chromosome X, which is associated with Borjeson-Forssman-Lehmann syndrome (BFLS), making it a possible candidate gene for familial cases of the BFLS, and for other syndromal and nonspecific forms of X-linked cognitive disability mapping to this region. Alternative splicing of this gene at the 5' end results in several transcript variants encoding different isoforms with different N-termini. [provided by RefSeq, Nov 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","GSC","chr14",95235486,95235486,"NM_173849","C","T","missense","SNM","NA","NA","NA","c.424G>A","p.G142S","NA",0.296296,81,0,36,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","goosecoid","ZGSC, ik:tdsubc_1c10, ik:tdsubc_2g4, ik:tdsubc_2h11, xx:tdsubc_1c10, xx:tdsubc_2g4, xx:tdsubc_2h11, zgc:101595",null,"NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","MIIP","chr1",12091378,12091378,"NM_021933","C","T","missense","SNM","NA","NA","NA","c.998C>T","p.P333L","NA",0.277778,90,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","migration and invasion inhibitory protein","IIP45","This gene encodes a protein that interacts with the oncogene protein insulin-like growth factor binding protein 2 and may function as an inhibitor of cell migration and invasion. This protein also interacts with the cell division protein 20 and may be involved in regulating mitotic progression. This protein may function as a tumor suppressor by inhibiting the growth or certain cancers. [provided by RefSeq, Sep 2011]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","MYO5B","chr18",47363999,47363999,"NM_001080467","C","G","missense","SNM","NA","NA","NA","c.5026G>C","p.E1676Q","NA",0.173913,207,0,131,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myosin VB",null,"The protein encoded by this gene, together with other proteins, may be involved in plasma membrane recycling. Mutations in this gene are associated with microvillous inclusion disease. [provided by RefSeq, Sep 2009]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","NID1","chr1",236212078,236212078,"NM_002508","G","C","missense","SNM","NA","NA","NA","c.437C>G","p.S146C","NA",0.143564,202,0,101,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nidogen 1","NID","This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","PCDHB14","chr5",140603723,140603723,"NM_018934","G","T","missense","SNM","NA","NA","NA","c.646G>T","p.D216Y","NA",0.5,42,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protocadherin beta 14","PCDH-BETA14","This gene is a member of the protocadherin beta gene cluster, one of three related gene clusters tandemly linked on chromosome five. The gene clusters demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The beta cluster contains 16 genes and 3 pseudogenes, each encoding 6 extracellular cadherin domains and a cytoplasmic tail that deviates from others in the cadherin superfamily. The extracellular domains interact in a homophilic manner to specify differential cell-cell connections. Unlike the alpha and gamma clusters, the transcripts from these genes are made up of only one large exon, not sharing common 3' exons as expected. These neural cadherin-like cell adhesion proteins are integral plasma membrane proteins. Their specific functions are unknown but they most likely play a critical role in the establishment and function of specific cell-cell neural connections. [provided by RefSeq, Jul 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","POLR1A","chr2",86305385,86305385,"NM_015425","A","G","missense","SNM","NA","NA","NA","c.1109T>C","p.I370T","NA",0.262774,137,0,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA polymerase I subunit A","A190, AFDCIN, RPA1, RPA194, RPO1-4, RPO14","The protein encoded by this gene is the largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","PUM1","chr1",31447606,31447606,"NM_001020658","C","A","missense","SNM","NA","NA","NA","c.1398G>T","p.W466C","NA",0.276786,112,0,76,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pumilio RNA binding family member 1","HSPUM, PUMH, PUMH1, PUML1, SCA47","This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","RPL36","chr19",5691573,5691573,"NM_015414","C","T","missense","SNM","NA","NA","NA","c.259C>T","p.R87W","NA",0.479452,73,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ribosomal protein L36","L36","Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 60S subunit. The protein belongs to the L36E family of ribosomal proteins. It is located in the cytoplasm. Transcript variants derived from alternative splicing exist; they encode the same protein. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Jul 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","SIPA1L2","chr1",232600891,232600891,"NM_020808","C","G","missense","SNM","NA","NA","NA","c.2515G>C","p.E839Q","NA",0.127273,165,0,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","signal induced proliferation associated 1 like 2","SPAL2","This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","SP110","chr2",231050759,231050759,"NM_080424","C","A","missense","SNM","NA","NA","NA","c.1230G>T","p.M410I","NA",0.208511,235,0,215,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SP110 nuclear body protein","IFI41, IFI75, IPR1, VODI","The nuclear body is a multiprotein complex that may have a role in the regulation of gene transcription. This gene is a member of the SP100/SP140 family of nuclear body proteins and encodes a leukocyte-specific nuclear body component. The protein can function as an activator of gene transcription and may serve as a nuclear hormone receptor coactivator. In addition, it has been suggested that the protein may play a role in ribosome biogenesis and in the induction of myeloid cell differentiation. Alternative splicing has been observed for this gene and three transcript variants, encoding distinct isoforms, have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","TUBGCP5","chr15",22855130,22855130,"NM_052903","G","T","missense","SNM","NA","NA","NA","c.1591G>T","p.A531S","NA",0.318182,88,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tubulin gamma complex associated protein 5","GCP5",null,"NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","UBA7","chr3",49847133,49847133,"NM_003335","C","G","missense","SNM","NA","NA","NA","c.1930G>C","p.D644H","NA",0.410526,94,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin like modifier activating enzyme 7","D8, UBA1B, UBE1L, UBE2","The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E1 ubiquitin-activating enzyme family. The encoded enzyme is a retinoid target that triggers promyelocytic leukemia (PML)/retinoic acid receptor alpha (RARalpha) degradation and apoptosis in acute promyelocytic leukemia, where it is involved in the conjugation of the ubiquitin-like interferon-stimulated gene 15 protein. [provided by RefSeq, Jul 2008]","NA"]
["S01763","LCNEC","NA","LCNEC","yes","NA","NA","NA","XRN1","chr3",142141565,142141565,"NM_019001","C","G","missense","SNM","NA","NA","NA","c.826G>C","p.E276Q","NA",0.129032,62,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromatin-binding exonuclease XRN1","YGL173C, DST2, KEM1, RAR5, SEP1, SKI1",null,"NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","ABCA3","chr16",2338315,2338315,"NM_001089","G","C","missense","SNM","NA","NA","NA","c.2716C>G","p.Q906E","NA",0.515625,64,0.03125,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP binding cassette subfamily A member 3","ABC-C, ABC3, EST111653, LBM180, SMDP3","The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intracellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the ABC1 subfamily.  Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes.  The full transporter encoded by this gene may be involved in development of resistance to xenobiotics and engulfment during programmed cell death. [provided by RefSeq, Jul 2008]","NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","BICD2","chr9",95477606,95477606,"NM_001003800","C","G","missense","SNM","NA","NA","NA","c.2398G>C","p.E800Q","NA",0.319444,72,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","BICD cargo adaptor 2","SMALED2, bA526D8.1","This gene is one of two human homologs of Drosophila bicaudal-D and a member of the Bicoid family. It has been implicated in dynein-mediated, minus end-directed motility along microtubules. It has also been reported to be a phosphorylation target of NIMA related kinase 8. Two alternative splice variants have been described. [provided by RefSeq, Jul 2008]","NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","BRWD1","chr21",40642288,40642288,"NM_018963","C","T","missense","SNM","NA","NA","NA","c.1316G>A","p.S439N","NA",0.473684,133,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bromodomain and WD repeat domain containing 1","5330419I02Rik, D530019K20Rik, G1-403-16, Wdr9, repro5",null,"NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","CEBPG","chr19",33870341,33870341,"NM_001252296","C","T","missense","SNM","NA","NA","NA","c.196C>T","p.R66W","NA",0.433962,106,0.02,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CCAAT enhancer binding protein gamma","GPE1BP, IG/EBP-1","The C/EBP family of transcription factors regulates viral and cellular CCAAT/enhancer element-mediated transcription. C/EBP proteins contain the bZIP region, which is characterized by two motifs in the C-terminal half of the protein: a basic region involved in DNA binding and a leucine zipper motif involved in dimerization. The C/EBP family consist of several related proteins, C/EBP alpha, C/EBP beta, C/EBP gamma, and C/EBP delta, that form homodimers and that form heterodimers with each other. CCAAT/enhancer binding protein gamma may cooperate with Fos to bind PRE-I enhancer elements. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","PER3","chr1",7887423,7887423,"NM_016831","C","T","missense","SNM","NA","NA","NA","c.2410C>T","p.L804F","NA",0.45614,57,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","period circadian regulator 3","FASPS3, GIG13","This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]","NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","SPRYD3","chr12",53460226,53460226,"NM_032840","C","A","missense","SNM","NA","NA","NA","c.1066G>T","p.A356S","NA",0.352657,207,0.00862069,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SPRY domain containing 3","BC008150",null,"NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","TBL1X","chrX",9659637,9659637,"NM_001139466","T","C","missense","SNM","NA","NA","NA","c.635T>C","p.M212T","NA",0.414716,299,0,150,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transducin beta like 1 X-linked","EBI, SMAP55, TBL1","The protein encoded by this gene has sequence similarity with members of the WD40 repeat-containing protein family. The WD40 group is a large family of proteins, which appear to have a regulatory function. It is believed that the WD40 repeats mediate protein-protein interactions and members of the family are involved in signal transduction, RNA processing, gene regulation, vesicular trafficking, cytoskeletal assembly and may play a role in the control of cytotypic differentiation. This encoded protein is found as a subunit in corepressor SMRT (silencing mediator for retinoid and thyroid receptors) complex along with histone deacetylase 3 protein. This gene is located adjacent to the ocular albinism gene and it is thought to be involved in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype. Four transcript variants encoding two different isoforms have been found for this gene. This gene is highly similar to the Y chromosome TBL1Y gene. [provided by RefSeq, Nov 2008]","NA"]
["S02229","LCNEC","NA","LCNEC","yes","NA","NA","NA","WDHD1","chr14",55422405,55422405,"NM_007086","G","A","missense","SNM","NA","NA","NA","c.2924C>T","p.A975V","NA",0.48913,91,0.0246914,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WD repeat and HMG-box DNA binding protein 1","AND-1, AND1, CHTF4, CTF4","The protein encoded by this gene contains multiple N-terminal WD40 domains and a C-terminal high mobility group (HMG) box. WD40 domains are found in a variety of eukaryotic proteins and may function as adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARHGAP33","chr19",36278123,36278123,"NM_052948","G","C","missense","SNM","NA","NA","NA","c.2173G>C","p.G725R","NA",0.333333,30,0,17,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho GTPase activating protein 33","NOMA-GAP, SNX26, TCGAP","This gene encodes a member of the sorting nexin family. Members of this family contain a phox (PX) domain, which is a phosphoinositide binding domain, and are involved in intracellular trafficking. Alternative splice variants encoding different isoforms have been identified in this gene. [provided by RefSeq, Feb 2010]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","EEF2","chr19",3977516,3977516,"NM_001961","C","G","missense","SNM","NA","NA","NA","c.2160G>C","p.Q720H","NA",0.30914,371,0,249,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation elongation factor 2","EEF-2, EF-2, EF2, SCA26","This gene encodes a member of the GTP-binding translation elongation factor family. This protein is an essential factor for protein synthesis. It promotes the GTP-dependent translocation of the nascent protein chain from the A-site to the P-site of the ribosome. This protein is completely inactivated by EF-2 kinase phosporylation. [provided by RefSeq, Jul 2008]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","HUWE1","chrX",53674424,53674424,"NM_031407","C","G","missense","SNM","NA","NA","NA","c.238G>C","p.V80L","NA",0.31383,187,0,127,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase","ARF-BP1, HECTH9, HSPC272, Ib772, LASU1, MULE, URE-B1, UREB1","This gene encodes a protein containing a C-terminal HECT (E6AP type E3 ubiquitin protein ligase) domain that functions as an E3 ubiquitin ligase. The encoded protein is required for the ubiquitination and subsequent degradation of the anti-apoptotic protein Mcl1 (myeloid cell leukemia sequence 1 (BCL2-related)). This protein also ubiquitinates the p53 tumor suppressor, core histones, and DNA polymerase beta. Mutations in this gene are associated with Turner type X-linked syndromic cognitive disability. [provided by RefSeq, Aug 2013]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","ITGB8","chr7",20431117,20431117,"NM_002214","A","G","missense","SNM","NA","NA","NA","c.1052A>G","p.Y351C","NA",0.378378,37,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","integrin subunit beta 8",null,"This gene is a member of the integrin beta chain family and encodes a single-pass type I membrane protein with a VWFA domain and four cysteine-rich repeats. This protein noncovalently binds to an alpha subunit to form a heterodimeric integrin complex. In general, integrin complexes mediate cell-cell and cell-extracellular matrix interactions and this complex plays a role in human airway epithelial proliferation. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","NTM","chr11",132016336,132016336,"NM_001144058","G","C","missense","SNM","NA","NA","NA","c.328G>C","p.E110Q","NA",0.460733,189,0,199,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","neurotrimin","CEPU-1, HNT, IGLON2, NTRI","This gene encodes a member of the IgLON (LAMP, OBCAM, Ntm) family of immunoglobulin (Ig) domain-containing glycosylphosphatidylinositol (GPI)-anchored cell adhesion molecules. The encoded protein may promote neurite outgrowth and adhesion via a homophilic mechanism. This gene is closely linked to a related family member, opioid binding protein/cell adhesion molecule-like (OPCML), on chromosome 11. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2009]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","RASA1","chr5",86674234,86674234,"NM_002890","G","A","missense","SNM","NA","NA","NA","c.2366G>A","p.R789Q","NA",0.358025,81,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAS p21 protein activator 1","CM-AVM, CMAVM, GAP, PKWS, RASA, RASGAP, p120, p120GAP, p120RASGAP","The protein encoded by this gene is located in the cytoplasm and is part of the GAP1 family of GTPase-activating proteins. The gene product stimulates the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the weak intrinsic GTPase activity of RAS proteins resulting in the inactive GDP-bound form of RAS, thereby allowing control of cellular proliferation and differentiation. Mutations leading to changes in the binding sites of either protein are associated with basal cell carcinomas. Mutations also have been associated with hereditary capillary malformations (CM) with or without arteriovenous malformations (AVM) and Parkes Weber syndrome. Alternative splicing results in two isoforms where the shorter isoform, lacking the N-terminal hydrophobic region but retaining the same activity, appears to be abundantly expressed in placental but not adult tissues. [provided by RefSeq, May 2012]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","RB1","chr13",49033947,49033947,"NM_000321","T","G","missense","SNM","NA","NA","NA","c.2084T>G","p.M695R","NA",0.741071,112,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC36A4","chr11",92918946,92918946,"NM_152313","C","A","missense","SNM","NA","NA","NA","c.90G>T","p.Q30H","NA",0.302632,75,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 36 member 4","PAT4","SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011]","NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","TAMM41","chr3",11885544,11885544,"NM_138807","C","G","missense","SNM","NA","NA","NA","c.277G>C","p.A93P","NA",0.521739,46,0,58,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TAM41 mitochondrial translocator assembly and maintenance homolog","C3orf31, RAM41, TAM41",null,"NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF238","chr1",244218560,244218560,"NM_205768","G","T","missense","SNM","NA","NA","NA","c.1484G>T","p.R495L","NA",0.271186,59,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 238",null,null,"NA"]
["S02236","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF74","chr22",20749652,20749652,"NM_003426","C","G","missense","SNM","NA","NA","NA","c.64C>G","p.L22V","NA",0.509091,218,0,231,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 74","COS52, ZFP520, ZNF520, hZNF7",null,"NA"]
["S02258","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","TP53","chr17",7578280,7578280,"NM_000546","G","-","frameshift deletion","DEL","NA","NA","NA","c.569delC","p.P190fs","NA",0.462451,253,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","CAMSAP2","chr1",200826953,200826953,"NM_203459","A","T","missense","SNM","NA","NA","NA","c.4203A>T","p.L1401F","NA",0.318182,22,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","calmodulin regulated spectrin associated protein family member 2","CAMSAP1L1",null,"NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHST15","chr10",125780775,125780775,"NM_015892","C","G","missense","SNM","NA","NA","NA","c.1344G>C","p.M448I","NA",0.411765,51,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","carbohydrate sulfotransferase 15","BRAG, GALNAC4S-6ST","Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHST15","chr10",125780812,125780812,"NM_015892","C","A","missense","SNM","NA","NA","NA","c.1307G>T","p.R436L","NA",0.3125,64,0.0166667,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","carbohydrate sulfotransferase 15","BRAG, GALNAC4S-6ST","Chondroitin sulfate (CS) is a glycosaminoglycan which is an important structural component of the extracellular matrix and which links to proteins to form proteoglycans. Chondroitin sulfate E (CS-E) is an isomer of chondroitin sulfate in which the C-4 and C-6 hydroxyl groups are sulfated. This gene encodes a type II transmembrane glycoprotein that acts as a sulfotransferase to transfer sulfate to the C-6 hydroxal group of chondroitin sulfate. This gene has also been identified as being co-expressed with RAG1 in B-cells and as potentially acting as a B-cell surface signaling receptor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2012]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDX27","chr20",47838014,47838014,"NM_017895","A","T","missense","SNM","NA","NA","NA","c.212A>T","p.Q71L","NA",0.261438,153,0,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAD-box helicase 27","DRS1, Drs1p, HSPC259, PP3241, RHLP, dJ686N3.1","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein involved in the processing of 5.8S and 28S ribosomal RNAs. More specifically, the encoded protein localizes to the nucleolus, where it interacts with the PeBoW complex to ensure proper 3' end formation of 47S rRNA. [provided by RefSeq, Jan 2017]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","GGH","chr8",63938809,63938809,"NM_003878","C","A","missense","SNM","NA","NA","NA","c.407G>T","p.G136V","NA",0.351351,74,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","gamma-glutamyl hydrolase","GH","This gene catalyzes the hydrolysis of folylpoly-gamma-glutamates and antifolylpoly-gamma-glutamates by the removal of gamma-linked polyglutamates and glutamate. [provided by RefSeq, Jul 2008]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","HNRNPA2B1","chr7",26237285,26237285,"NM_031243","A","T","stopgain","SNM","NA","NA","NA","c.110T>A","p.L37*","NA",0.258824,85,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","heterogeneous nuclear ribonucleoprotein A2/B1","HNRNPA2, HNRNPB1, HNRPA2, HNRPA2B1, HNRPB1, IBMPFD2, RNPA2, SNRPB1","This gene belongs to the A/B subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene has two repeats of quasi-RRM domains that bind to RNAs. This gene has been described to generate two alternatively spliced transcript variants which encode different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","INTS4","chr11",77618848,77618848,"NM_033547","T","G","missense","SNM","NA","NA","NA","c.1931A>C","p.Q644P","NA",0.126582,79,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","integrator complex subunit 4","INT4, MST093","INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","NSD1","chr5",176638746,176638746,"NM_022455","C","A","missense","SNM","NA","NA","NA","c.3346C>A","p.Q1116K","NA",0.270968,155,0,119,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear receptor binding SET domain protein 1","ARA267, KMT3B, SOTOS, SOTOS1, STO","This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]","Meth"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","PHF12","chr17",27246285,27246285,"NM_001033561","C","A","missense","SNM","NA","NA","NA","c.845G>T","p.R282L","NA",0.247525,100,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PHD finger protein 12","PF1",null,"NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAB2A","chr8",61504493,61504493,"NM_002865","G","T","stopgain","SNM","NA","NA","NA","c.439G>T","p.E147*","NA",0.40625,64,0.0294118,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAB2A, member RAS oncogene family","LHX, RAB2","The protein encoded by this gene belongs to the Rab family, members of which are small molecular weight guanosine triphosphatases (GTPases) that contain highly conserved domains involved in GTP binding and hydrolysis. The Rabs are membrane-bound proteins, involved in vesicular fusion and trafficking. This protein is a resident of pre-Golgi intermediates, and is required for protein transport from the endoplasmic reticulum (ER) to the Golgi complex. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","RECQL5","chr17",73625919,73625919,"NM_004259","C","T","missense","SNM","NA","NA","NA","c.1816G>A","p.A606T","NA",0.247059,85,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RecQ like helicase 5","RECQ5","The protein encoded by this gene is a helicase that is important for genome stability. The encoded protein also prevents aberrant homologous recombination by displacing RAD51 from ssDNA. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","SCMH1","chr1",41494325,41494325,"NM_001031694","C","A","missense","SNM","NA","NA","NA","c.1788G>T","p.E596D","NA",0.270073,137,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sex comb on midleg homolog 1","AI315320, AI851618, Scml1, Scml3",null,"Polycomb"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","SNUPN","chr15",75890947,75890947,"NM_001042588","G","A","missense","SNM","NA","NA","NA","c.835C>T","p.P279S","NA",0.192593,134,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","snurportin 1","KPNBL, RNUT1, Snurportin1","The nuclear import of the spliceosomal snRNPs U1, U2, U4 and U5, is dependent on the presence of a complex nuclear localization signal. The latter is composed of the 5'-2,2,7-terminal trimethylguanosine (m3G) cap structure of the U snRNA and the Sm core domain. The protein encoded by this gene interacts specifically with m3G-cap and functions as an snRNP-specific nuclear import receptor. Alternatively spliced transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK11","chr19",1220443,1220443,"NM_000455","C","T","missense","SNM","NA","NA","NA","c.536C>T","p.P179L","NA",0.404762,84,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S02259","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK36","chr2",219544782,219544782,"NM_015690","G","A","missense","SNM","NA","NA","NA","c.1115G>A","p.G372E","NA",0.236842,75,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serine/threonine kinase 36","FU","This gene encodes a member of the serine/threonine kinase family of enzymes. This family member is similar to a Drosophila protein that plays a key role in the Hedgehog signaling pathway. This human protein is a positive regulator of the GLI zinc-finger transcription factors. Knockout studies of the homologous mouse gene suggest that defects in this human gene may lead to congenital hydrocephalus, possibly due to a functional defect in motile cilia. Because Hedgehog signaling is frequently activated in certain kinds of gastrointestinal cancers, it has been suggested that this gene is a target for the treatment of these cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]","NA"]
["S02260","LCNEC","NA","LCNEC","yes","NA","NA","NA","RB1","chr13",49027160,49027160,"NM_000321","C","A","stopgain","SNM","NA","NA","NA","c.1727C>A","p.S576*","NA",0.736111,72,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S02263","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK11","chr19",1207078,1207078,"NM_000455","G","T","missense","SNM","NA","NA","NA","c.166G>T","p.G56W","NA",0.533537,328,0,161,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ABCB6","chr2",220078871,220078871,"NM_005689","C","T","missense","SNM","NA","NA","NA","c.1424G>A","p.R475H","NA",0.282297,208,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP binding cassette subfamily B member 6 (Langereis blood group)","ABC, LAN, MTABC3, PRP, umat","This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. ABC proteins transport various molecules across extra- and intra-cellular membranes. This protein is a member of the heavy metal importer subfamily and plays a role in porphyrin transport. This gene is the molecular basis of the Langereis (Lan) blood group antigen and mutations in this gene underlie familial pseudohyperkalemia and dyschromatosis universalis hereditaria. [provided by RefSeq, Mar 2017]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ATXN2L","chr16",28844644,28844644,"NM_148414","G","A","missense","SNM","NA","NA","NA","c.1924G>A","p.G642R","NA",0.358696,92,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ataxin 2 like","A2D, A2LG, A2LP, A2RP","This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","ETFDH","chr4",159611549,159611549,"NM_004453","T","A","missense","SNM","NA","NA","NA","c.656T>A","p.V219E","NA",0.553846,65,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","electron transfer flavoprotein dehydrogenase","ETFQO, MADD","This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","INSR","chr19",7174672,7174672,"NM_000208","C","A","missense","SNM","NA","NA","NA","c.1045G>T","p.D349Y","NA",0.562044,137,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","insulin receptor","CD220, HHF5","This gene encodes a member of the receptor tyrosine kinase family of proteins. The encoded preproprotein is proteolytically processed to generate alpha and beta subunits that form a heterotetrameric receptor. Binding of insulin or other ligands to this receptor activates the insulin signaling pathway, which regulates glucose uptake and release, as well as the synthesis and storage of carbohydrates, lipids and protein. Mutations in this gene underlie the inherited severe insulin resistance syndromes including type A insulin resistance syndrome, Donohue syndrome and Rabson-Mendenhall syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","MAP3K10","chr19",40698342,40698342,"NM_002446","C","G","missense","SNM","NA","NA","NA","c.404C>G","p.P135R","NA",0.286822,129,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase kinase kinase 10","MEKK10, MLK2, MST","The protein encoded by this gene is a member of the serine/threonine kinase family. This kinase has been shown to activate MAPK8/JNK and MKK4/SEK1, and this kinase itself can be phoshorylated, and thus activated by JNK kinases. This kinase functions preferentially on the JNK signaling pathway, and is reported to be involved in nerve growth factor (NGF) induced neuronal apoptosis. [provided by RefSeq, Jul 2008]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","MMP17","chr12",132329943,132329943,"NM_016155","G","T","missense","SNM","NA","NA","NA","c.1153G>T","p.V385L","NA",0.385246,122,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","matrix metallopeptidase 17","MMP-17, MT4-MMP, MT4MMP, MTMMP4","This gene encodes a member of the peptidase M10 family and membrane-type subfamily of matrix metalloproteinases (MMPs). Proteins in this family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Members of this subfamily contain a transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. The encoded preproprotein is proteolytically processed to generate the mature protease. This protein is unique among the membrane-type matrix metalloproteinases in that it is anchored to the cell membrane via a glycosylphosphatidylinositol (GPI) anchor. Elevated expression of the encoded protein has been observed in osteoarthritis and multiple human cancers. [provided by RefSeq, Jan 2016]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","RBM6","chr3",50005816,50005816,"NM_005777","C","A","missense","SNM","NA","NA","NA","c.958C>A","p.H320N","NA",0.75,20,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA binding motif protein 6","3G2, DEF-3, DEF3, HLC-11, NY-LU-12, g16",null,"NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","SLC35F2","chr11",107686594,107686594,"NM_017515","T","G","missense","SNM","NA","NA","NA","c.208A>C","p.N70H","NA",0.319149,94,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 35 member F2","HSNOV1",null,"NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7577100,7577100,"NM_000546","T","C","missense","SNM","NA","NA","NA","c.838A>G","p.R280G","NA",0.562874,167,0,148,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02264","LCNEC combined SqCC","NA","LCNEC","yes","NA","NA","NA","USP19","chr3",49152753,49152753,"NM_001199160","C","A","missense","SNM","NA","NA","NA","c.1924G>T","p.G642W","NA",0.64,125,0,118,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 19","ZMYND9","Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]","NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","C14orf133","chr14",77901617,77901617,"NM_001193314","G","C","missense","SNM","NA","NA","NA","c.1032C>G","p.H344Q","NA",0.186047,172,0.0196078,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog","C14orf133, SPE-39, SPE39, VIPAR, VPS16B, hSPE-39","This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]","NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","HIST1H1C","chr6",26056074,26056074,"NM_005319","G","C","missense","SNM","NA","NA","NA","c.583C>G","p.P195A","NA",0.225,80,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone cluster 1 H1 family member c","H1.2, H1C, H1F2, H1s-1","Histones are basic nuclear proteins responsible for nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. This gene is found in the large histone gene cluster on chromosome 6. [provided by RefSeq, Aug 2015]","NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","KEAP1","chr19",10602620,10602620,"NM_012289","G","A","missense","SNM","NA","NA","NA","c.958C>T","p.R320W","NA",0.435897,78,0.0178571,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","kelch like ECH associated protein 1","INrf2, KLHL19","This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","MCM5","chr22",35796450,35796450,"NM_006739","C","T","missense","SNM","NA","NA","NA","c.19C>T","p.P7S","NA",0.263736,91,0.037037,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","minichromosome maintenance complex component 5","CDC46, MGORS8, P1-CDC46","The protein encoded by this gene is structurally very similar to the CDC46 protein from S. cerevisiae, a protein involved in the initiation of DNA replication. The encoded protein is a member of the MCM family of chromatin-binding proteins and can interact with at least two other members of this family. The encoded protein is upregulated in the transition from the G0 to G1/S phase of the cell cycle and may actively participate in cell cycle regulation. [provided by RefSeq, Jul 2008]","NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","PYGL","chr14",51387751,51387751,"NM_002863","G","T","missense","SNM","NA","NA","NA","c.695C>A","p.P232H","NA",0.303867,181,0.0196078,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glycogen phosphorylase L","GSD6","This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]","NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","RUFY3","chr4",71650520,71650520,"NM_001037442","A","G","missense","SNM","NA","NA","NA","c.995A>G","p.K332R","NA",0.333333,30,0.0344828,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RUN and FYVE domain containing 3","2810428M05Rik, 6330416M07Rik, AW455998, AW538594, D5Bwg0860e, Ripx, Rpipx",null,"NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","SCAF1","chr19",50156843,50156843,"NM_021228","G","A","missense","SNM","NA","NA","NA","c.3197G>A","p.G1066D","NA",0.282051,39,0,17,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SR-related CTD associated factor 1","SRA1",null,"NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","TAB1","chr22",39824182,39824182,"NM_006116","T","C","missense","SNM","NA","NA","NA","c.1301T>C","p.L434P","NA",0.228916,83,0.0416667,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TGF-beta activated kinase 1 (MAP3K7) binding protein 1","3'-Tab1, MAP3K7IP1","The protein encoded by this gene was identified as a regulator of the MAP kinase kinase kinase MAP3K7/TAK1, which is known to mediate various intracellular signaling pathways, such as those induced by TGF beta, interleukin 1, and WNT-1. This protein interacts and thus activates TAK1 kinase. It has been shown that the C-terminal portion of this protein is sufficient for binding and activation of TAK1, while a portion of the N-terminus acts as a dominant-negative inhibitor of TGF beta, suggesting that this protein may function as a mediator between TGF beta receptors and TAK1. This protein can also interact with and activate the mitogen-activated protein kinase 14 (MAPK14/p38alpha), and thus represents an alternative activation pathway, in addition to the MAPKK pathways, which contributes to the biological responses of MAPK14 to various stimuli. Alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]","NA"]
["S02265","LCNEC","NA","LCNEC","yes","NA","NA","NA","TPRA1","chr3",127292532,127292532,"NM_001136053","C","A","missense","SNM","NA","NA","NA","c.954G>T","p.E318D","NA",0.244681,94,0.0384615,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein adipocyte associated 1","GPR175, TMEM227, TPRA40",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ACADM","chr1",76226930,76226930,"NM_001127328","G","T","missense","SNM","NA","NA","NA","c.1081G>T","p.A361S","NA","NA","NA","NA","NA",0.458333,24,0,44,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA dehydrogenase medium chain","ACAD1, MCAD, MCADH","This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ALDH6A1","chr14",74533499,74533499,"NM_005589","C","T","missense","SNM","NA","NA","NA","c.1133G>A","p.G378E","NA","NA","NA","NA","NA",0.372093,43,0,41,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aldehyde dehydrogenase 6 family member A1","MMSADHA, MMSDH","This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ANKHD1-EIF4EBP3","chr5",139866576,139866576,"NM_020690","G","A","missense","SNM","NA","NA","NA","c.2176G>A","p.V726I","NA","NA","NA","NA","NA",0.186047,43,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ANKHD1-EIF4EBP3 readthrough","MASK-BP3, MASK-BP3ARF","The ANKHD1-EIF4EBP3 mRNA is an infrequent but naturally occurring readthrough transcript of the neighboring ANKHD1 and EIF4EBP3 genes. This readthrough transcript encodes a protein composed mostly of the multiple ankyrin repeats, single KH-domain protein, with its C-terminus encoded in a different reading frame from the shared portion of the EIF4EBP3 gene. The significance of this readthrough mRNA and the function of its protein product have not yet been determined. [provided by RefSeq, Nov 2009]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ARID1A","chr1",27023727,27023727,"NM_006015","G","T","missense","SNM","NA","NA","NA","c.833G>T","p.G278V","NA","NA","NA","NA","NA",0.423077,26,0,28,"NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ATP2A2","chr12",110784072,110784072,"NM_170665","G","T","missense","SNM","NA","NA","NA","c.2926G>T","p.V976L","NA","NA","NA","NA","NA",0.509091,55,0,36,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2","ATP2B, DAR, DD, SERCA2","This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","AXIN2","chr17",63533923,63533923,"NM_004655","G","A","missense","SNM","NA","NA","NA","c.1231C>T","p.L411F","NA","NA","NA","NA","NA",0.425,40,0,36,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","axin 2","Axi1, Axil, Conductin",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","BTBD7","chr14",93727950,93727950,"NM_001002860","C","A","missense","SNM","NA","NA","NA","c.1445G>T","p.R482I","NA","NA","NA","NA","NA",0.516129,31,0,35,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","BTB domain containing 7","FUP1",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","CCPG1","chr15",55657442,55657442,"NM_001204450","T","C","missense","SNM","NA","NA","NA","c.772A>G","p.M258V","NA","NA","NA","NA","NA",0.785714,28,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cell cycle progression 1","CPR8",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","CENPF","chr1",214818116,214818116,"NM_016343","G","T","missense","SNM","NA","NA","NA","c.5203G>T","p.G1735W","NA","NA","NA","NA","NA",0.7,40,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centromere protein F","CENF, CILD31, PRO1779, STROMS, hcp-1","This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association through early anaphase. It localizes to the spindle midzone and the intracellular bridge in late anaphase and telophase, respectively, and is thought to be subsequently degraded. The localization of this protein suggests that it may play a role in chromosome segregation during mitotis. It is thought to form either a homodimer or heterodimer. Autoantibodies against this protein have been found in patients with cancer or graft versus host disease. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","COBL","chr7",51258616,51258616,"NM_015198","C","A","stopgain","SNM","NA","NA","NA","c.616G>T","p.E206*","NA","NA","NA","NA","NA",0.833333,30,0,31,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cordon-bleu WH2 repeat",null,null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","COG3","chr13",46050474,46050474,"NM_031431","G","C","missense","SNM","NA","NA","NA","c.313G>C","p.A105P","NA","NA","NA","NA","NA",0.96875,32,0,44,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","component of oligomeric golgi complex 3","SEC34","This gene encodes a component of the conserved oligomeric Golgi (COG) complex which is composed of eight different subunits and is required for normal Golgi morphology and localization. Defects in the COG complex result in multiple deficiencies in protein glycosylation. The protein encoded by this gene is involved in ER-Golgi transport.[provided by RefSeq, Jun 2011]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","DAZL","chr3",16638537,16638537,"NM_001190811","T","C","missense","SNM","NA","NA","NA","c.376A>G","p.K126E","NA","NA","NA","NA","NA",0.428571,28,0,28,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","deleted in azoospermia like","DAZH, DAZL1, DAZLA, SPGYLA","The DAZ (Deleted in AZoospermia) gene family encodes potential RNA binding proteins that are expressed in prenatal and postnatal germ cells of males and females. The protein encoded by this gene is localized to the nucleus and cytoplasm of fetal germ cells and to the cytoplasm of developing oocytes. In the testis, this protein is localized to the nucleus of spermatogonia but relocates to the cytoplasm during meiosis where it persists in spermatids and spermatozoa. Transposition and amplification of this autosomal gene during primate evolution gave rise to the DAZ gene cluster on the Y chromosome. Mutations in this gene have been linked to severe spermatogenic failure and infertility in males. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","DEPTOR","chr8",120940678,120940678,"NM_022783","G","T","missense","SNM","NA","NA","NA","c.161G>T","p.R54L","NA","NA","NA","NA","NA",0.475,80,0,48,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEP domain containing MTOR interacting protein","DEP.6, DEPDC6",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","DIS3","chr13",73355894,73355894,"NM_014953","C","A","missense","SNM","NA","NA","NA","c.77G>T","p.R26L","NA","NA","NA","NA","NA",0.862069,29,0,27,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exosome catalytic subunit DIS3","YOL021C, MTR17, RRP44",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ELAVL4","chr1",50642859,50642859,"NM_001144775","A","G","missense","SNM","NA","NA","NA","c.400A>G","p.I134V","NA","NA","NA","NA","NA",0.275,40,0,39,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ELAV like RNA binding protein 4","Elav, Hud, PNEM",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","EXOC4","chr7",133059617,133059617,"NM_021807","A","T","missense","SNM","NA","NA","NA","c.1043A>T","p.K348M","NA","NA","NA","NA","NA",0.471698,53,0,39,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exocyst complex component 4","SEC8, SEC8L1, Sec8p","The protein encoded by this gene is a component of the exocyst complex, a multiple protein complex essential for targeting exocytic vesicles to specific docking sites on the plasma membrane. Though best characterized in yeast, the component proteins and functions of exocyst complex have been demonstrated to be highly conserved in higher eukaryotes. At least eight components of the exocyst complex, including this protein, are found to interact with the actin cytoskeletal remodeling and vesicle transport machinery. The complex is also essential for the biogenesis of epithelial cell surface polarity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","FAM13C","chr10",61112199,61112199,"NM_198215","C","T","missense","SNM","NA","NA","NA","c.155G>A","p.G52E","NA","NA","NA","NA","NA",0.375,40,0.0294118,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 13 member C","FAM13C1",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","FAR2","chr12",29450096,29450096,"NM_018099","T","A","missense","SNM","NA","NA","NA","c.508T>A","p.C170S","NA","NA","NA","NA","NA",0.541667,48,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fatty acyl CoA reductase 2","A230046P18, AW048109, BC055759, Mlstd1",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","FGF11","chr17",7345911,7345911,"NM_004112","A","T","splicing","SNM","NA","NA","NA","c.409_splice","e4-2","NA","NA","NA","NA","NA",0.633803,71,0,31,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","fibroblast growth factor 11","FGF-11, FHF-3, FHF3","The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. The function of this gene has not yet been determined. The expression pattern of the mouse homolog implies a role in nervous system development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","GLS","chr2",191766737,191766737,"NM_014905","C","T","missense","SNM","NA","NA","NA","c.800C>T","p.T267I","NA","NA","NA","NA","NA",0.264706,34,0,42,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glutaminase","AAD20, GAC, GAM, GLS1, KGA","This gene encodes the K-type mitochondrial glutaminase. The encoded protein is an phosphate-activated amidohydrolase that catalyzes the hydrolysis of glutamine to glutamate and ammonia. This protein is primarily expressed in the brain and kidney plays an essential role in generating energy for metabolism, synthesizing the brain neurotransmitter glutamate and maintaining acid-base balance in the kidney. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","GNPDA2","chr4",44709775,44709775,"NM_138335","A","C","missense","SNM","NA","NA","NA","c.763T>G","p.F255V","NA","NA","NA","NA","NA",0.375,16,0,35,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glucosamine-6-phosphate deaminase 2","GNP2, SB52","The protein encoded by this gene is an allosteric enzyme that catalyzes the reversible reaction converting D-glucosamine-6-phosphate into D-fructose-6-phosphate and ammonium. Variations of this gene have been reported to be associated with influencing body mass index and susceptibility to obesity. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","HCN2","chr19",615855,615855,"NM_001194","A","T","missense","SNM","NA","NA","NA","c.2051A>T","p.N684I","NA","NA","NA","NA","NA",0.774194,31,0,30,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","hyperpolarization-activated, cyclic nucleotide-gated K+ 2","BCNG2, HAC1, trls",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","HIATL1","chr9",97221444,97221444,"NM_032558","G","T","missense","SNM","NA","NA","NA","c.1271G>T","p.G424V","NA","NA","NA","NA","NA",0.384615,26,0,27,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","hippocampus abundant transcript-like 1",null,null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","IBTK","chr6",82925826,82925826,"NM_015525","T","A","missense","SNM","NA","NA","NA","c.1568A>T","p.N523I","NA","NA","NA","NA","NA",0.888889,36,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","inhibitor of Bruton tyrosine kinase","BTBD26, BTKI","Bruton tyrosine kinase (BTK) is a protein tyrosine kinase that is expressed in B cells, macrophages, and neutrophils. The protein encoded by this gene binds to BTK and downregulates BTK's kinase activity. In addition, the encoded protein disrupts BTK-mediated calcium mobilization and negatively regulates the activation of nuclear factor-kappa-B-driven transcription. This gene has a pseudogene on chromosome 18. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ISL1","chr5",50685601,50685601,"NM_002202","C","A","stopgain","SNM","NA","NA","NA","c.600C>A","p.Y200*","NA","NA","NA","NA","NA",0.510638,47,0,25,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ISL1 transcription factor, LIM/homeodomain",null,null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","KDM6A","chrX",44922972,44922972,"NM_021140","G","T","missense","SNM","NA","NA","NA","c.1833G>T","p.Q611H","NA","NA","NA","NA","NA",0.823529,17,0,17,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine demethylase 6A","KABUK2, UTX, bA386N14.2","This gene is located on the X chromosome and is the corresponding locus to a Y-linked gene which encodes a tetratricopeptide repeat (TPR) protein. The encoded protein of this gene contains a JmjC-domain and catalyzes the demethylation of tri/dimethylated histone H3. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]","Demeth"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","KIAA0494","chr1",47154139,47154139,"NM_014774","T","A","missense","SNM","NA","NA","NA","c.873A>T","p.K291N","NA","NA","NA","NA","NA",0.28125,32,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","EF-hand calcium binding domain 14","KIAA0494",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","KLHL36","chr16",84691341,84691341,"NM_024731","G","C","missense","SNM","NA","NA","NA","c.928G>C","p.E310Q","NA","NA","NA","NA","NA",0.464286,28,0,20,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kelch like family member 36","C16orf44",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","LGR5","chr12",71977546,71977546,"NM_003667","C","T","missense","SNM","NA","NA","NA","c.1756C>T","p.P586S","NA","NA","NA","NA","NA",0.287879,66,0,31,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat containing G protein coupled receptor 5","FEX, Gpr49","The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. [provided by RefSeq, Sep 2015]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","LRP4","chr11",46911912,46911912,"NM_002334","G","A","missense","SNM","NA","NA","NA","c.1831C>T","p.R611C","NA","NA","NA","NA","NA",0.4,45,0,25,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","low density lipoprotein receptor-related protein 4","6430526J12Rik, D230026E03, Megf7, mdig",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","LTBP3","chr11",65319775,65319775,"NM_001130144","C","A","missense","SNM","NA","NA","NA","c.1289G>T","p.C430F","NA","NA","NA","NA","NA",0.648148,54,0,49,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","latent transforming growth factor beta binding protein 3","DASS, GPHYSD3, LTBP-3, LTBP2, STHAG6, pp6425","The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","MKRN3","chr15",23811612,23811612,"NM_005664","C","A","stopgain","SNM","NA","NA","NA","c.683C>A","p.S228*","NA","NA","NA","NA","NA",0.787879,33,0,39,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","makorin ring finger protein 3","CPPB2, D15S9, RNF63, ZFP127, ZNF127","The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","MUC13","chr3",124632065,124632065,"NM_033049","A","T","missense","SNM","NA","NA","NA","c.1104T>A","p.D368E","NA","NA","NA","NA","NA",0.487805,41,0,30,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mucin 13, cell surface associated","DRCC1, MUC-13","Epithelial mucins, such as MUC13, are a family of secreted and cell surface glycoproteins expressed by ductal and glandular epithelial tissues (Williams et al., 2001 [PubMed 11278439]).[supplied by OMIM, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","MYRIP","chr3",40275471,40275471,"NM_015460","G","A","missense","SNM","NA","NA","NA","c.2027G>A","p.R676K","NA","NA","NA","NA","NA",0.375,32,0,27,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","myosin VIIA and Rab interacting protein","SLAC2-C, SLAC2C",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","NARS2","chr11",78285476,78285476,"NM_024678","G","C","missense","SNM","NA","NA","NA","c.58C>G","p.P20A","NA","NA","NA","NA","NA",0.631579,57,0,40,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","asparaginyl-tRNA synthetase 2, mitochondrial","DFNB94, SLM5, asnRS","This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","NID1","chr1",236205524,236205524,"NM_002508","A","T","missense","SNM","NA","NA","NA","c.821T>A","p.V274E","NA","NA","NA","NA","NA",0.263158,38,0,36,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nidogen 1","NID","This gene encodes a member of the nidogen family of basement membrane glycoproteins. The protein interacts with several other components of basement membranes, and may play a role in cell interactions with the extracellular matrix. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","PARP1","chr1",226550819,226550819,"NM_001618","C","A","missense","SNM","NA","NA","NA","c.2829G>T","p.K943N","NA","NA","NA","NA","NA",0.512821,39,0,28,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","poly(ADP-ribose) polymerase 1","ADPRT, ADPRT 1, ADPRT1, ARTD1, PARP, PARP-1, PPOL, pADPRT-1","This gene encodes a chromatin-associated enzyme, poly(ADP-ribosyl)transferase, which modifies various nuclear proteins by poly(ADP-ribosyl)ation. The modification is dependent on DNA and is involved in the regulation of various important cellular processes such as differentiation, proliferation, and tumor transformation and also in the regulation of the molecular events involved in the recovery of cell from DNA damage. In addition, this enzyme may be the site of mutation in Fanconi anemia, and may participate in the pathophysiology of type I diabetes. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","PCCB","chr3",135969249,135969249,"NM_001178014","G","T","missense","SNM","NA","NA","NA","c.32G>T","p.G11V","NA","NA","NA","NA","NA",0.22449,49,0,24,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","propionyl-CoA carboxylase subunit beta",null,"The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","PER1","chr17",8050003,8050003,"NM_002616","C","T","missense","SNM","NA","NA","NA","c.1816G>A","p.A606T","NA","NA","NA","NA","NA",0.306122,49,0,16,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","period circadian clock 1","Hftm, Per, m-rigui, mPer1","This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by Clock/Arntl heterodimers but then represses this upregulation in a feedback loop using Per/Cry heterodimers to interact with Clock/Arntl. Polymorphisms in this gene may increase the risk of getting certain cancers. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2014]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","PLAC8","chr4",84028987,84028987,"NM_001130715","T","A","missense","SNM","NA","NA","NA","c.88A>T","p.M30L","NA","NA","NA","NA","NA",0.357143,42,0,31,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","placenta specific 8","C15, DGIC, PNAS-144, onzin",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","PLXNB1","chr3",48465213,48465213,"NM_002673","C","A","missense","SNM","NA","NA","NA","c.808G>T","p.G270C","NA","NA","NA","NA","NA",0.621622,37,0,31,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","plexin B1","PLEXIN-B1, PLXN5, SEP",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","PTCD3","chr2",86362008,86362008,"NM_017952","A","T","missense","SNM","NA","NA","NA","c.1676A>T","p.Y559F","NA","NA","NA","NA","NA",0.535714,28,0,19,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pentatricopeptide repeat domain 3","MRP-S39",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","PYGL","chr14",51376662,51376662,"NM_002863","A","T","missense","SNM","NA","NA","NA","c.2128T>A","p.F710I","NA","NA","NA","NA","NA",0.4,60,0,24,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glycogen phosphorylase L","GSD6","This gene encodes a homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","RAD51C","chr17",56772551,56772551,"NM_058216","G","T","splicing","SNM","NA","NA","NA","c.404_splice","e2+1","NA","NA","NA","NA","NA",0.447368,38,0,37,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAD51 paralog C","BROVCA3, FANCO, R51H3, RAD51L2","This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","RBM14","chr11",66393130,66393130,"NM_006328","G","T","missense","SNM","NA","NA","NA","c.1783G>T","p.A595S","NA","NA","NA","NA","NA",0.54,50,0,21,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA binding motif protein 14","COAA, PSP2, SIP, SYTIP1, TMEM137","This gene encodes a ribonucleoprotein that functions as a general nuclear coactivator, and an RNA splicing modulator. This protein contains two RNA recognition motifs (RRM) at the N-terminus, and multiple hexapeptide repeat domain at the C-terminus that interacts with thyroid hormone receptor-binding protein (TRBP), and is required for transcription activation. Alternatively spliced transcript variants encoding different isoforms (with opposing effects on transcription) have been described for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","RPN1","chr3",128350917,128350917,"NM_002950","C","A","missense","SNM","NA","NA","NA","c.717G>T","p.W239C","NA","NA","NA","NA","NA",0.583333,36,0,42,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","proteasome regulatory particle base subunit RPN1","YHR027C, HRD2, NAS1",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SBK2","chr19",56041105,56041105,"NM_001101401","G","T","missense","SNM","NA","NA","NA","c.1042C>A","p.Q348K","NA","NA","NA","NA","NA",0.516129,31,0,28,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SH3 domain binding kinase family member 2","SGK069",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SH2D3C","chr9",130501104,130501104,"NM_170600","C","A","missense","SNM","NA","NA","NA","c.2504G>T","p.R835L","NA","NA","NA","NA","NA",0.4375,64,0,29,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SH2 domain containing 3C","CHAT, NSP3, PRO34088, SHEP1","This gene encodes an adaptor protein and member of a cytoplasmic protein family involved in cell migration. The encoded protein contains a putative Src homology 2 (SH2) domain and guanine nucleotide exchange factor-like domain which allows this signaling protein to form a complex with scaffolding protein Crk-associated substrate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SLC12A9","chr7",100452263,100452263,"NM_020246","G","T","missense","SNM","NA","NA","NA","c.203G>T","p.G68V","NA","NA","NA","NA","NA",0.567568,37,0,38,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 12 member 9","CCC6, CIP1, WO3.3, hCCC6",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SLITRK5","chr13",88328032,88328032,"NM_015567","G","A","missense","SNM","NA","NA","NA","c.389G>A","p.G130D","NA","NA","NA","NA","NA",0.852941,34,0,36,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SLIT and NTRK like family member 5","LRRC11, bA364G4.2","Members of the SLITRK family, such as SLITRK5, are integral membrane proteins with 2 N-terminal leucine-rich repeat (LRR) domains similar to those of SLIT proteins (see SLIT1; MIM 603742). Most SLITRKs, including SLITRK5, also have C-terminal regions that share homology with neurotrophin receptors (see NTRK1; MIM 191315). SLITRKs are expressed predominantly in neural tissues and have neurite-modulating activity (Aruga et al., 2003 [PubMed 14557068]).[supplied by OMIM, Mar 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SMPD4","chr2",130911355,130911355,"NM_017951","C","A","missense","SNM","NA","NA","NA","c.1930G>T","p.D644Y","NA","NA","NA","NA","NA",0.533333,30,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sphingomyelin phosphodiesterase 4","NET13, NSMASE-3, NSMASE3, SKNY","The protein encoded by this gene is a sphingomyelinase that catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide. This gene is activated by DNA damage, cellular stress, and tumor necrosis factor, but it is downregulated by wild-type p53. The encoded protein localizes to the endoplasmic reticulum and Golgi network. [provided by RefSeq, Mar 2017]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SOAT1","chr1",179320497,179320497,"NM_003101","G","T","missense","SNM","NA","NA","NA","c.1496G>T","p.W499L","NA","NA","NA","NA","NA",0.270833,48,0,43,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","sterol O-acyltransferase 1","ACACT, ACAT, ACAT-1, ACAT1, SOAT, STAT","The protein encoded by this gene belongs to the acyltransferase family. It is located in the endoplasmic reticulum, and catalyzes the formation of fatty acid-cholesterol esters. This gene has been implicated in the formation of beta-amyloid and atherosclerotic plaques by controlling the equilibrium between free cholesterol and cytoplasmic cholesteryl esters. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SRP72","chr4",57361530,57361530,"NM_006947","G","T","missense","SNM","NA","NA","NA","c.1648G>T","p.D550Y","NA","NA","NA","NA","NA",0.333333,27,0,38,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","signal recognition particle 72","BMFF, BMFS1, HEL103","This gene encodes the 72 kDa subunit of the signal recognition particle (SRP), a ribonucleoprotein complex that mediates the targeting of secretory proteins to the endoplasmic reticulum (ER). The SRP complex consists of a 7S RNA and 6 protein subunits: SRP9, SRP14, SRP19, SRP54, SRP68, and SRP72, that are bound to the 7S RNA as monomers or heterodimers. SRP has at least 3 distinct functions that can be associated with the protein subunits: signal recognition, translational arrest, and ER membrane targeting by interaction with the docking protein. Mutations in this gene are associated with familial bone marrow failure. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","SYTL2","chr11",85415969,85415969,"NM_206927","C","A","missense","SNM","NA","NA","NA","c.3220G>T","p.D1074Y","NA","NA","NA","NA","NA",0.357143,28,0,33,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","synaptotagmin like 2","CHR11SYT, EXO4, PPP1R151, SGA72M, SLP2, SLP2A","The protein encoded by this gene is a synaptotagmin-like protein (SLP) that belongs to a C2 domain-containing protein family. The SLP homology domain (SHD) of this protein has been shown to specifically bind the GTP-bound form of Ras-related protein Rab-27A (RAB27A). This protein plays a role in RAB27A-dependent vesicle trafficking and controls melanosome distribution in the cell periphery. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Jun 2009]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","TICAM1","chr19",4817657,4817657,"NM_182919","C","A","missense","SNM","NA","NA","NA","c.733G>T","p.G245C","NA","NA","NA","NA","NA",0.875,32,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","toll-like receptor adaptor molecule 1","AW046014, AW547018, TICAM-1, TRIF",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","TMEM19","chr12",72091146,72091146,"NM_018279","G","T","missense","SNM","NA","NA","NA","c.469G>T","p.G157W","NA","NA","NA","NA","NA",0.473684,57,0,38,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 19","2810428F02Rik, AW125171",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","TRADD","chr16",67190559,67190559,"NM_003789","G","A","missense","SNM","NA","NA","NA","c.5C>T","p.A2V","NA","NA","NA","NA","NA",0.869565,23,0,36,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TNFRSF1A associated via death domain","Hs.89862","The protein encoded by this gene is a death domain containing adaptor molecule that interacts with TNFRSF1A/TNFR1 and mediates programmed cell death signaling and NF-kappaB activation. This protein binds adaptor protein TRAF2, reduces the recruitment of inhibitor-of-apoptosis proteins (IAPs) by TRAF2, and thus suppresses TRAF2 mediated apoptosis. This protein can also interact with receptor TNFRSF6/FAS and adaptor protein FADD/MORT1, and is involved in the Fas-induced cell death pathway. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","UACA","chr15",70976781,70976781,"NM_018003","C","A","missense","SNM","NA","NA","NA","c.607G>T","p.A203S","NA","NA","NA","NA","NA",0.65625,32,0,37,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","uveal autoantigen with coiled-coil domains and ankyrin repeats","NUCLING","This gene encodes a protein that contains ankyrin repeats and coiled coil domains and likely plays a role in apoptosis. Studies in rodents have implicated the encoded protein in the stimulation of apoptosis and the regulation of mammary gland involution, in which the mammary gland returns to its pre-pregnant state. This protein has also been proposed to negatively regulate apoptosis based on experiments in human cell lines in which the protein was shown to interact with PRKC apoptosis WT1 regulator protein, also known as PAR-4, and inhibit translocation of the PAR-4 receptor. Autoantibodies to this protein have been identified in human patients with panuveitis and Graves' disease. Differential expression of this gene has been observed in various human cancers. [provided by RefSeq, May 2017]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","VAV3","chr1",108115955,108115955,"NM_006113","A","T","stoploss","SNM","NA","NA","NA","c.2542T>A","p.*848K","NA","NA","NA","NA","NA",0.285714,35,0,38,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","vav guanine nucleotide exchange factor 3",null,"This gene is a member of the VAV gene family. The VAV proteins are guanine nucleotide exchange factors (GEFs) for Rho family GTPases that activate pathways leading to actin cytoskeletal rearrangements and transcriptional alterations. This gene product acts as a GEF preferentially for RhoG, RhoA, and to a lesser extent, RAC1, and it associates maximally with the nucleotide-free states of these GTPases. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","VPS16","chr20",2840728,2840728,"NM_022575","G","T","missense","SNM","NA","NA","NA","c.171G>T","p.E57D","NA","NA","NA","NA","NA",0.945946,37,0,33,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tethering complex subunit VPS16","YPL045W, CVT15, SVL6, VAM9, VPT16",null,"NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","XRCC5","chr2",216995645,216995646,"NM_021141","GA","TT","missense","DNM","NA","NA","NA","c.985_986delinsTT","p.E329L","NA","NA","NA","NA","NA",0.315887,28,0,39,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","X-ray repair cross complementing 5","KARP-1, KARP1, KU80, KUB2, Ku86, NFIV","The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding component of the DNA-dependent protein kinase, and it functions together with the DNA ligase IV-XRCC4 complex in the repair of DNA double-strand break by non-homologous end joining and the completion of V(D)J recombination events.  This gene functionally complements Chinese hamster xrs-6, a mutant defective in DNA double-strand break repair and in ability to undergo V(D)J recombination. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ZNF331","chr19",54080597,54080597,"NM_001079906","C","A","missense","SNM","NA","NA","NA","c.783C>A","p.H261Q","NA","NA","NA","NA","NA",0.526316,38,0,31,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 331","RITA, ZNF361, ZNF463","This gene encodes a zinc finger protein containing a KRAB (Kruppel-associated box) domain found in transcriptional repressors. This gene may be methylated and silenced in cancer cells. This gene is located within a differentially methylated region (DMR) and shows allele-specific expression in placenta. Alternative splicing and the use of alternative promoters results in multiple transcript variants encoding the same protein. [provided by RefSeq, Nov 2015]","NA"]
["S02266","LCNEC","NA","LCNEC","NA","yes","NA","NA","ZNF417","chr19",58420011,58420011,"NM_152475","T","G","missense","SNM","NA","NA","NA","c.1635A>C","p.E545D","NA","NA","NA","NA","NA",0.414634,41,0,36,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 417",null,null,"NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","ACOX3","chr4",8417658,8417658,"NM_003501","C","A","missense","SNM","NA","NA","NA","c.213G>T","p.L71F","NA","NA","NA","NA","NA",0.416667,48,0,42,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA oxidase 3, pristanoyl",null,"Acyl-Coenzyme A oxidase 3 also know as pristanoyl -CoA oxidase (ACOX3)is involved in the desaturation of 2-methyl branched fatty acids in peroxisomes.  Unlike the rat homolog, the human gene is expressed in very low amounts in liver such that its mRNA was undetectable by routine Northern-blot analysis or its product by immunoblotting or by enzyme activity measurements.  However the human cDNA encoding a 700 amino acid protein with a peroxisomal targeting C-terminal tripeptide S-K-L was isolated and is thought to be expressed under special conditions such as specific developmental stages or in a tissue specific manner in tissues that have not yet been examined. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","ARHGEF2","chr1",155934881,155934881,"NM_001162383","C","T","missense","SNM","NA","NA","NA","c.622G>A","p.D208N","NA","NA","NA","NA","NA",0.5,40,0,35,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho/Rac guanine nucleotide exchange factor 2","GEF, GEF-H1, GEFH1, LFP40, NEDMHM, P40","Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form complex with G proteins and stimulate rho-dependent signals. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Jun 2009]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","ATXN7L2","chr1",110031052,110031052,"NM_153340","A","C","missense","SNM","NA","NA","NA","c.748A>C","p.T250P","NA","NA","NA","NA","NA",0.4,25,0,33,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ataxin 7 like 2",null,null,"NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","CD99L2","chrX",149945929,149945929,"NM_001242614","C","A","missense","SNM","NA","NA","NA","c.535G>T","p.D179Y","NA","NA","NA","NA","NA",0.833333,18,0,22,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CD99 antigen-like 2","AW548191, Mic2l1, Xap89",null,"NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","DDX11","chr12",31238060,31238060,"NM_152438","G","C","missense","SNM","NA","NA","NA","c.638G>C","p.R213T","NA","NA","NA","NA","NA",0.275862,29,0,42,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAD/H-box helicase 11","CHL1, CHLR1, KRG2, WABS","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","DSC2","chr18",28648972,28648972,"NM_024422","C","A","missense","SNM","NA","NA","NA","c.2396G>T","p.G799V","NA","NA","NA","NA","NA",0.588235,34,0,33,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","desmocollin 2","ARVD11, CDHF2, DG2, DGII/III, DSC3","This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","FLNC","chr7",128490050,128490050,"NM_001458","C","A","missense","SNM","NA","NA","NA","c.5220C>A","p.H1740Q","NA","NA","NA","NA","NA",0.444444,18,0,38,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","filamin C","ABP-280, ABP280A, ABPA, ABPL, CMH26, FLN2, MFM5, MPD4, RCM5","This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskeleton. Three functional domains exist in filamin: an N-terminal filamentous actin-binding domain, a C-terminal self-association domain, and a membrane glycoprotein-binding domain. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","GCFC2","chr2",75921405,75921405,"NM_003203","T","C","missense","SNM","NA","NA","NA","c.982A>G","p.I328V","NA","NA","NA","NA","NA",0.815789,38,0,43,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GC-rich sequence DNA-binding factor 2","C2orf3, DNABF, GCF, TCF9","The first mRNA transcript isolated for this gene was part of an artificial chimera derived from two distinct gene transcripts and a primer used in the cloning process (see Genbank accession M29204). A positively charged amino terminus present only in the chimera was determined to bind GC-rich DNA, thus mistakenly thought to identify a transcription factor gene. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","GTSF1","chr12",54858890,54858890,"NM_144594","C","A","missense","SNM","NA","NA","NA","c.78G>T","p.R26S","NA","NA","NA","NA","NA",0.604651,43,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","gametocyte specific factor 1","FAM112B",null,"NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","KAT6A","chr8",41791084,41791084,"NM_001099413","C","A","missense","SNM","NA","NA","NA","c.4654G>T","p.D1552Y","NA","NA","NA","NA","NA",0.545455,33,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine acetyltransferase 6A","MOZ, MRD32, MYST-3, MYST3, RUNXBP2, ZC2HC6A, ZNF220","This gene encodes a member of the MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with an autosomal dominant form of cognitive disability. Chromosomal translocations of this gene are associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2017]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","MADD","chr11",47296553,47296553,"NM_003682","C","A","missense","SNM","NA","NA","NA","c.502C>A","p.R168S","NA","NA","NA","NA","NA",0.866667,15,0,37,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MAP kinase activating death domain","DENN, IG20, RAB3GEP","Tumor necrosis factor alpha (TNF-alpha) is a signaling molecule that interacts with one of two receptors on cells targeted for apoptosis. The apoptotic signal is transduced inside these cells by cytoplasmic adaptor proteins. The protein encoded by this gene is a death domain-containing adaptor protein that interacts with the death domain of TNF-alpha receptor 1 to activate mitogen-activated protein kinase (MAPK) and propagate the apoptotic signal. It is membrane-bound and expressed at a higher level in neoplastic cells than in normal cells. Several transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","MUTYH","chr1",45797954,45797954,"NM_001128425","C","A","missense","SNM","NA","NA","NA","c.817G>T","p.A273S","NA","NA","NA","NA","NA",0.25,24,0,34,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mutY DNA glycosylase","MYH","This gene encodes a DNA glycosylase involved in oxidative DNA damage repair. The enzyme excises adenine bases from the DNA backbone at sites where adenine is inappropriately paired with guanine, cytosine, or 8-oxo-7,8-dihydroguanine, a major oxidatively damaged DNA lesion. The protein is localized to the nucleus and mitochondria. This gene product is thought to play a role in signaling apoptosis by the introduction of single-strand breaks following oxidative damage. Mutations in this gene result in heritable predisposition to colorectal cancer, termed MUTYH-associated polyposis (MAP). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","PCDH17","chr13",58208169,58208169,"NM_001040429","C","A","missense","SNM","NA","NA","NA","c.1489C>A","p.Q497K","NA","NA","NA","NA","NA",0.789474,19,0,26,"NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","protocadherin 17","PCDH68, PCH68","This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","PPM1D","chr17",58740675,58740675,"NM_003620","A","T","missense","SNM","NA","NA","NA","c.1580A>T","p.E527V","NA","NA","NA","NA","NA",0.276923,65,0,30,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein phosphatase, Mg2+/Mn2+ dependent 1D","IDDGIP, PP2C-DELTA, WIP1","The protein encoded by this gene is a member of the PP2C family of Ser/Thr protein phosphatases. PP2C family members are known to be negative regulators of cell stress response pathways. The expression of this gene is induced in a p53-dependent manner in response to various environmental stresses. While being induced by tumor suppressor protein TP53/p53, this phosphatase negatively regulates the activity of p38 MAP kinase, MAPK/p38, through which it reduces the phosphorylation of p53, and in turn suppresses p53-mediated transcription and apoptosis. This phosphatase thus mediates a feedback regulation of p38-p53 signaling that contributes to growth inhibition and the suppression of stress induced apoptosis. This gene is located in a chromosomal region known to be amplified in breast cancer. The amplification of this gene has been detected in both breast cancer cell line and primary breast tumors, which suggests a role of this gene in cancer development. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","SIPA1L2","chr1",232575113,232575113,"NM_020808","T","A","missense","SNM","NA","NA","NA","c.3772A>T","p.I1258F","NA","NA","NA","NA","NA",0.5,18,0,35,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","signal induced proliferation associated 1 like 2","SPAL2","This gene encodes a member of the signal-induced proliferation-associated 1 like family. Members of this family contain a GTPase activating domain, a PDZ domain and a C-terminal coiled-coil domain with a leucine zipper. A similar protein in rat acts as a GTPases for the small GTPase Rap. [provided by RefSeq, Sep 2015]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","ST8SIA5","chr18",44260298,44260298,"NM_013305","G","A","stopgain","SNM","NA","NA","NA","c.838C>T","p.Q280*","NA","NA","NA","NA","NA",0.764706,17,0,44,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5","SIAT8-E, SIAT8E, ST8SiaV","The protein encoded by this gene is a type II membrane protein that may be present in the Golgi apparatus. The encoded protein, which is a member of glycosyltransferase family 29, may be involved in the synthesis of gangliosides GD1c, GT1a, GQ1b, and GT3 from GD1a, GT1b, GM1b, and GD3, respectively. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","TDP1","chr14",90450866,90450866,"NM_018319","G","T","missense","SNM","NA","NA","NA","c.891G>T","p.W297C","NA","NA","NA","NA","NA",0.464789,71,0,57,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tyrosyl-DNA phosphodiesterase 1",null,"The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","WDR3","chr1",118499755,118499755,"NM_006784","A","T","missense","SNM","NA","NA","NA","c.2518A>T","p.N840Y","NA","NA","NA","NA","NA",0.244444,45,0,49,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WD repeat domain 3","DIP2, UTP12","This gene encodes a nuclear protein containing 10 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, which usually include a trp-asp at the C-terminal end. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. [provided by RefSeq, Jul 2008]","NA"]
["S02267","LCNEC","NA","LCNEC","NA","yes","NA","NA","ZNF670","chr1",247201353,247201353,"NM_033213","T","C","missense","SNM","NA","NA","NA","c.568A>G","p.T190A","NA","NA","NA","NA","NA",0.5,22,0,43,"NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 670",null,null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","ALPK3","chr15",85383141,85383141,"NM_020778","G","T","missense","SNM","NA","NA","NA","c.1237G>T","p.D413Y","NA",0.393443,61,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","alpha kinase 3","CMH27, MAK, MIDORI",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARAP1","chr11",72410100,72410100,"NM_001040118","C","A","missense","SNM","NA","NA","NA","c.2491G>T","p.G831W","NA",0.337748,151,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1","CENTD2","The protein encoded by this gene contains SAM, ARF-GAP, RHO-GAP, ankyrin repeat, RAS-associating, and pleckstrin homology (PH) domains. In vitro, this protein displays RHO-GAP and phosphatidylinositol (3,4,5) trisphosphate (PIP3)-dependent ARF-GAP activity. The encoded protein associates with the Golgi, and the ARF-GAP activity mediates changes in the Golgi and the formation of filopodia. It is thought to regulate the cell-specific trafficking of a receptor protein involved in apoptosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","C10orf137","chr10",127409852,127409852,"NM_001202438","C","T","missense","SNM","NA","NA","NA","c.188C>T","p.A63V","NA",0.373134,67,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome 10 open reading frame 137","EDRF1",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","CPS1","chr2",211476985,211476985,"NM_001122633","C","A","missense","SNM","NA","NA","NA","c.2554C>A","p.P852T","NA",0.473684,38,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","carbamoyl-phosphate synthase 1","CPSASE1, PHN","The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","CYP2R1","chr11",14913548,14913548,"NM_024514","C","G","missense","SNM","NA","NA","NA","c.204G>C","p.K68N","NA",0.245283,53,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cytochrome P450 family 2 subfamily R member 1",null,"This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","DGCR2","chr22",19044526,19044526,"NM_005137","C","A","stopgain","SNM","NA","NA","NA","c.775G>T","p.E259*","NA",0.295547,247,0,128,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DiGeorge syndrome critical region gene 2","DGS-C, IDD, LAN, SEZ-12","Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym CATCH 22. The DGCR2 gene encodes a novel putative adhesion receptor protein, which could play a role in neural crest cells migration, a process which has been proposed to be altered in DiGeorge syndrome. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","EED","chr11",85979557,85979557,"NM_003797","A","G","missense","SNM","NA","NA","NA","c.920A>G","p.N307S","NA",0.578431,102,0,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","embryonic ectoderm development","l(7)5Rn, l7Rn5, lusk",null,"Polycomb"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","ERGIC2","chr12",29509340,29509340,"NM_016570","C","A","missense","SNM","NA","NA","NA","c.547G>T","p.G183W","NA",0.380952,105,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ERGIC and golgi 2","CDA14, Erv41, PTX1, cd002","ERGIC2, or PTX1, is a ubiquitously expressed nuclear protein that is downregulated in prostate carcinoma (Kwok et al., 2001 [PubMed 11445006]).[supplied by OMIM, Aug 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","FANCI","chr15",89819949,89819949,"NM_001113378","A","T","missense","SNM","NA","NA","NA","c.1120A>T","p.S374C","NA",0.453488,86,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FA complementation group I","KIAA1794","The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group I. Alternative splicing results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","FBXW2","chr9",123533699,123533699,"NM_012164","C","T","missense","SNM","NA","NA","NA","c.1003G>A","p.D335N","NA",0.355263,76,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","F-box and WD repeat domain containing 2","FBW2, Fwd2, Md6","F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","GOLIM4","chr3",167728548,167728548,"NM_014498","C","A","missense","SNM","NA","NA","NA","c.1924G>T","p.G642C","NA",0.617647,102,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","golgi integral membrane protein 4","GIMPC, GOLPH4, GPP130, P138","The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIF15","chr3",44893788,44893788,"NM_020242","A","T","missense","SNM","NA","NA","NA","c.4061A>T","p.Q1354L","NA",0.465517,58,0,79,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kinesin family member 15","HKLP2, KLP2, KNSL7, NY-BR-62",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRIF1","chr1",111494335,111494335,"NM_018372","C","A","missense","SNM","NA","NA","NA","c.1171G>T","p.V391L","NA",0.25641,78,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ligand dependent nuclear receptor interacting factor 1","C1orf103, HBiX1, RIF1",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","MANBA","chr4",103553273,103553273,"NM_005908","T","A","missense","SNM","NA","NA","NA","c.2581A>T","p.T861S","NA",0.433333,60,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mannosidase beta","MANB1","This gene encodes a member of the glycosyl hydrolase 2 family. The encoded protein localizes to the lysosome where it is the final exoglycosidase in the pathway for N-linked glycoprotein oligosaccharide catabolism. Mutations in this gene are associated with beta-mannosidosis, a lysosomal storage disease that has a wide spectrum of neurological involvement. [provided by RefSeq, Jul 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","NBAS","chr2",15470856,15470857,"NM_015909","CA","AG","missense","DNM","NA","NA","NA","c.4212_4213delinsCT","p.D1405Y","NA",0.389587,200,0,165,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","neuroblastoma amplified sequence","ILFS2, NAG, SOPH","This gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi-to-ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger-Huet anomaly. [provided by RefSeq, Oct 2012]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","NRXN3","chr14",80164014,80164014,"NM_004796","A","G","missense","SNM","NA","NA","NA","c.2539A>G","p.I847V","NA",0.421875,64,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","neurexin 3","C14orf60","This gene encodes a member of a family of proteins that function in the nervous system as receptors and cell adhesion molecules. Extensive alternative splicing and the use of alternative promoters results in multiple transcript variants and protein isoforms for this gene, but the full-length nature of many of these variants has not been determined. Transcripts that initiate from an upstream promoter encode alpha isoforms, which contain epidermal growth factor-like (EGF-like) sequences and laminin G domains. Transcripts initiating from the downstream promoter encode beta isoforms, which lack EGF-like sequences. Genetic variation at this locus has been associated with a range of behavioral phenotypes, including alcohol dependence and autism spectrum disorder. [provided by RefSeq, Dec 2012]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","NXF1","chr11",62567868,62567868,"NM_006362","C","A","missense","SNM","NA","NA","NA","c.997G>T","p.D333Y","NA",0.44375,160,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear RNA export factor 1","MEX67, TAP","This gene is one member of a family of nuclear RNA export factor genes. Common domain features of this family are a noncanonical RNP-type RNA-binding domain (RBD), 4 leucine-rich repeats (LRRs), a nuclear transport factor 2 (NTF2)-like domain that allows heterodimerization with NTF2-related export protein-1 (NXT1), and a ubiquitin-associated domain that mediates interactions with nucleoporins. The LRRs and NTF2-like domains are required for export activity. Alternative splicing seems to be a common mechanism in this gene family. The encoded protein of this gene shuttles between the nucleus and the cytoplasm and binds in vivo to poly(A)+ RNA. It is the vertebrate homologue of the yeast protein Mex67p. The encoded protein overcomes the mRNA export block caused by the presence of saturating amounts of CTE (constitutive transport element) RNA of type D retroviruses. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","PKP1","chr1",201294943,201294943,"NM_000299","G","T","stopgain","SNM","NA","NA","NA","c.2146G>T","p.E716*","NA",0.253521,71,0.0238095,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","plakophilin 1","B6P","This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRKAR1A","chr17",66519941,66519941,"NM_212472","G","A","missense","SNM","NA","NA","NA","c.424G>A","p.D142N","NA",0.291139,79,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein kinase cAMP-dependent type I regulatory subunit alpha","ACRDYS1, ADOHR, CAR, CNC, CNC1, PKR1, PPNAD1, PRKAR1, TSE1","cAMP is a signaling molecule important for a variety of cellular functions. cAMP exerts its effects by activating the cAMP-dependent protein kinase, which transduces the signal through phosphorylation of different target proteins. The inactive kinase holoenzyme is a tetramer composed of two regulatory and two catalytic subunits. cAMP causes the dissociation of the inactive holoenzyme into a dimer of regulatory subunits bound to four cAMP and two free monomeric catalytic subunits. Four different regulatory subunits and three catalytic subunits have been identified in humans. This gene encodes one of the regulatory subunits. This protein was found to be a tissue-specific extinguisher that down-regulates the expression of seven liver genes in hepatoma x fibroblast hybrids. Mutations in this gene cause Carney complex (CNC). This gene can fuse to the RET protooncogene by gene rearrangement and form the thyroid tumor-specific chimeric oncogene known as PTC2. A nonconventional nuclear localization sequence (NLS) has been found for this protein which suggests a role in DNA replication via the protein serving as a nuclear transport protein for the second subunit of the Replication Factor C (RFC40). Several alternatively spliced transcript variants encoding two different isoforms have been observed. [provided by RefSeq, Jan 2013]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","RCAN3","chr1",24861592,24861592,"NM_001251979","A","G","missense","SNM","NA","NA","NA","c.551A>G","p.Y184C","NA",0.285714,42,0,28,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RCAN family member 3","DSCR1L2, MCIP3, RCN3, hRCN3",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","RPS6KB2","chr11",67196039,67196039,"NM_003952","A","G","missense","SNM","NA","NA","NA","c.23A>G","p.D8G","NA",0.361111,36,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ribosomal protein S6 kinase B2","KLS, P70-beta, P70-beta-1, P70-beta-2, S6K-beta2, S6K2, S6KB, S6KI(2), S6Kbeta, SRK, STK14B, p70(S6K)-beta, p70S6Kb","This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains a kinase catalytic domain and phosphorylates the S6 ribosomal protein and eukaryotic translation initiation factor 4B (eIF4B). Phosphorylation of S6 leads to an increase in protein synthesis and cell proliferation. [provided by RefSeq, Jan 2015]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","SCTR","chr2",120204349,120204349,"NM_002980","G","A","missense","SNM","NA","NA","NA","c.1126C>T","p.L376F","NA",0.424242,99,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","secretin receptor","SR","The protein encoded by this gene is a G protein-coupled receptor and belongs to the glucagon-VIP-secretin receptor family. It binds secretin which is the most potent regulator of pancreatic bicarbonate, electrolyte and volume secretion. Secretin and its receptor are suggested to be involved in pancreatic cancer and autism. [provided by RefSeq, Jul 2008]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC34A2","chr4",25674822,25674822,"NM_006424","G","C","missense","SNM","NA","NA","NA","c.1162G>C","p.G388R","NA",0.343096,238,0,150,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 34 member 2","NAPI-3B, NAPI-IIb, NPTIIb","The protein encoded by this gene is a pH-sensitive sodium-dependent phosphate transporter. Phosphate uptake is increased at lower pH. Defects in this gene are a cause of pulmonary alveolar microlithiasis. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, May 2010]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","SRRT","chr7",100473311,100473311,"NM_015908","C","T","stopgain","SNM","NA","NA","NA","c.100C>T","p.R34*","NA",0.278107,168,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serrate, RNA effector molecule","ARS2, ASR2, serrate",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK17B","chr2",197021258,197021258,"NM_004226","C","A","missense","SNM","NA","NA","NA","c.240G>T","p.E80D","NA",0.557692,52,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","serine/threonine kinase 17b (apoptosis-inducing)","3110009A03Rik, AI120141, Drak2",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578394,7578394,"NM_000546","T","G","missense","SNM","NA","NA","NA","c.536A>C","p.H179P","NA",0.473684,114,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","UBP1","chr3",33437719,33437719,"NM_001128161","G","A","missense","SNM","NA","NA","NA","c.1325C>T","p.T442I","NA",0.216216,37,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","upstream binding protein 1","Cp2b, LBP-1a, LBP-1b, NF2d9",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF236","chr18",74592089,74592089,"NM_007345","A","T","missense","SNM","NA","NA","NA","c.999A>T","p.L333F","NA",0.357143,56,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 236","ZNF236A, ZNF236B",null,"NA"]
["S02268","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF606","chr19",58512685,58512685,"NM_025027","C","A","missense","SNM","NA","NA","NA","c.3G>T","p.M1I","NA",0.283582,66,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 606","ZNF328","This gene encodes a zinc finger protein containing a Kruppel-associated box (KRAB) domain at its N-terminus, followed by contiguous C2H2 zinc finger motifs. The encoded protein is a nuclear protein that can act as a transcriptional repressor of growth factor-mediated signaling pathways in a reporter gene assay. This protein has been shown to interact with the SRY-box 9 gene product, and suppresses its transcriptional activity by inhibiting its DNA binding activity. Reduced expression of this gene promotes chondrocyte differentiation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2016]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","C17orf80","chr17",71232151,71232151,"NM_017941","C","G","stopgain","SNM","NA","NA","NA","c.530C>G","p.S177*","NA",0.389831,59,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome 17 open reading frame 80","HLC-8, MIG3, SPEP1",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","CACHD1","chr1",65130221,65130221,"NM_020925","C","T","missense","SNM","NA","NA","NA","c.1982C>T","p.T661I","NA",0.37013,154,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cache domain containing 1","1190007F10Rik, AI852726, B430218L07Rik, Vwcd1, mKIAA1573",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","CDH2","chr18",25570173,25570173,"NM_001792","A","T","missense","SNM","NA","NA","NA","c.1486T>A","p.Y496N","NA",0.395745,235,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cadherin 2","CDHN, N-CAD, Ncad","This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion. The encoded preproprotein undergoes proteolytic processing to generate a mature protein. Mice lacking the encoded protein exhibit severe developmental defects resulting in embryonic death. [provided by RefSeq, Oct 2015]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","CELSR2","chr1",109795678,109795678,"NM_001408","G","T","missense","SNM","NA","NA","NA","c.2977G>T","p.V993F","NA",0.327434,113,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cadherin EGF LAG seven-pass G-type receptor 2","ADGRC2, CDHF10, EGFL2, Flamingo1, MEGF3","The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","CLN3","chr16",28493517,28493517,"NM_001042432","T","C","missense","SNM","NA","NA","NA","c.965A>G","p.Y322C","NA",0.65,60,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CLN3, battenin","BTN1, BTS, JNCL","This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","CREBBP","chr16",3786706,3786706,"NM_004380","C","A","missense","SNM","NA","NA","NA","c.4505G>T","p.W1502L","NA",0.727273,308,0,114,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","CREB binding protein","CBP, KAT3A, RSTS, RSTS1","This gene is ubiquitously expressed and is involved in the transcriptional coactivation of many different transcription factors. First isolated as a nuclear protein that binds to cAMP-response element binding protein (CREB), this gene is now known to play critical roles in embryonic development, growth control, and homeostasis by coupling chromatin remodeling to transcription factor recognition. The protein encoded by this gene has intrinsic histone acetyltransferase activity and also acts as a scaffold to stabilize additional protein interactions with the transcription complex. This protein acetylates both histone and non-histone proteins. This protein shares regions of very high sequence similarity with protein p300 in its bromodomain, cysteine-histidine-rich regions, and histone acetyltransferase domain. Mutations in this gene cause Rubinstein-Taybi syndrome (RTS). Chromosomal translocations involving this gene have been associated with acute myeloid leukemia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","DAGLB","chr7",6449484,6449484,"NM_139179","C","T","missense","SNM","NA","NA","NA","c.2003G>A","p.S668N","NA",0.271739,92,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","diacylglycerol lipase, beta","E330036I19Rik",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","DCUN1D3","chr16",20873817,20873817,"NM_173475","A","G","missense","SNM","NA","NA","NA","c.44T>C","p.L15P","NA",0.68693,327,0,145,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","defective in cullin neddylation 1 domain containing 3","44M2.4, SCCRO3",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","FARP2","chr2",242433482,242433482,"NM_014808","A","C","missense","SNM","NA","NA","NA","c.3107A>C","p.Q1036P","NA",0.376812,69,0,26,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FERM, ARH/RhoGEF and pleckstrin domain protein 2","FIR, FRG, PLEKHC3",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","FDX1","chr11",110306625,110306625,"NM_004109","G","A","missense","SNM","NA","NA","NA","c.253G>A","p.V85I","NA",0.395062,81,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ferredoxin 1","ADX, FDX, LOH11CR1D","This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolism. Pseudogenes of this functional gene are found on chromosomes 20 and 21. [provided by RefSeq, Aug 2011]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","FIG4","chr6",110146385,110146385,"NM_014845","C","T","stopgain","SNM","NA","NA","NA","c.2641C>T","p.Q881*","NA",0.387755,98,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FIG4 phosphoinositide 5-phosphatase","ALS11, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1","The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","FLII","chr17",18154628,18154628,"NM_002018","T","A","missense","SNM","NA","NA","NA","c.1547A>T","p.E516V","NA",0.387755,98,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","flightless I actin binding protein","3632430F08Rik, Fliih","This gene encodes a protein with gelsolin-like repeats and an N-terminal leucine-rich repeat domain. The protein is similar to a Drosophila protein involved in early embryogenesis and the structural organization of indirect flight muscle. This protein may act as an actin-remodelling protein as well as a transcriptional coactivator. Homozygous knockout mice show embryonic lethality. This protein may act to regulate wound repair. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","GCDH","chr19",13008652,13008652,"NM_000159","C","A","missense","SNM","NA","NA","NA","c.1218C>A","p.N406K","NA",0.426087,115,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glutaryl-CoA dehydrogenase","ACAD5, GCD","The protein encoded by this gene belongs to the acyl-CoA dehydrogenase family. It catalyzes the oxidative decarboxylation of glutaryl-CoA to crotonyl-CoA and CO(2) in the degradative pathway of L-lysine, L-hydroxylysine, and L-tryptophan metabolism. It uses electron transfer flavoprotein as its electron acceptor. The enzyme exists in the mitochondrial matrix as a homotetramer of 45-kD subunits. Mutations in this gene result in the metabolic disorder glutaric aciduria type 1, which is also known as glutaric acidemia type I. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 12. [provided by RefSeq, Mar 2013]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","GCN1L1","chr12",120611905,120611905,"NM_006836","C","G","missense","SNM","NA","NA","NA","c.1162G>C","p.E388Q","NA",0.352941,323,0,114,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","GCN1 general control of amino-acid synthesis 1-like 1 (yeast)","4932409G22, AL022764, G431004K08Rik, GCN1L, Gcn1, mKIAA0219",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","GNG4","chr1",235715461,235715461,"NM_001098722","G","T","missense","SNM","NA","NA","NA","c.176C>A","p.P59H","NA",0.239316,234,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","G protein subunit gamma 4",null,null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","GOLGA3","chr12",133373163,133373163,"NM_005895","C","T","missense","SNM","NA","NA","NA","c.2062G>A","p.A688T","NA",0.338028,142,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","golgin A3","GCP170, MEA-2","The Golgi apparatus, which participates in glycosylation and transport of proteins and lipids in the secretory pathway, consists of a series of stacked cisternae (flattened membrane sacs). Interactions between the Golgi and microtubules are thought to be important for the reorganization of the Golgi after it fragments during mitosis. This gene encodes a member of the golgin family of proteins which are localized to the Golgi. Its encoded protein has been postulated to play a role in nuclear transport and Golgi apparatus localization. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Feb 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","KCTD5","chr16",2747917,2747917,"NM_018992","G","T","missense","SNM","NA","NA","NA","c.372G>T","p.E124D","NA",0.717647,85,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","potassium channel tetramerization domain containing 5",null,null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","LIN7C","chr11",27520354,27520354,"NM_018362","A","T","splicing","SNM","NA","NA","NA","c.439_splice","e6-3","NA",0.357143,70,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lin-7 homolog C, crumbs cell polarity complex component","LIN-7-C, LIN-7C, MALS-3, MALS3, VELI3",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRRC61","chr7",150034524,150034524,"NM_001142928","A","G","missense","SNM","NA","NA","NA","c.574A>G","p.R192G","NA",0.325359,209,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat containing 61","BC027309",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","LTBP3","chr11",65321596,65321596,"NM_001130144","C","T","missense","SNM","NA","NA","NA","c.587G>A","p.G196E","NA",0.345238,84,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","latent transforming growth factor beta binding protein 3","DASS, GPHYSD3, LTBP-3, LTBP2, STHAG6, pp6425","The protein encoded by this gene forms a complex with transforming growth factor beta (TGF-beta) proteins and may be involved in their subcellular localization. Activation of this complex requires removal of the encoded binding protein. This protein also may play a structural role in the extracellular matrix. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAB21L3","chr1",116675886,116675886,"NM_152367","G","T","missense","SNM","NA","NA","NA","c.989G>T","p.R330L","NA",0.560209,191,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mab-21-like 3 (C. elegans)",null,null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAFG","chr17",79880534,79880534,"NM_002359","C","T","missense","SNM","NA","NA","NA","c.436G>A","p.A146T","NA",0.358491,53,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MAF bZIP transcription factor G","hMAF","Globin gene expression is regulated through nuclear factor erythroid-2 (NFE2) elements located in enhancer-like locus control regions positioned many kb upstream of alpha- and beta-gene clusters (summarized by Blank et al., 1997 [PubMed 9166829]). NFE2 DNA-binding activity consists of a heterodimer containing a ubiquitous small Maf protein (MafF, MIM 604877; MafG; or MafK, MIM 600197) and the tissue-restricted protein p45 NFE2 (MIM 601490). Both subunits are members of the activator protein-1-like superfamily of basic leucine zipper (bZIP) proteins (see MIM 165160).[supplied by OMIM, Mar 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","MLL3","chr7",151864349,151864349,"NM_170606","G","C","missense","SNM","NA","NA","NA","c.9632C>G","p.A3211G","NA",0.353535,98,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RIKEN cDNA E330008K23 gene","E330008K23Rik",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","NPAT","chr11",108032209,108032209,"NM_002519","C","G","missense","SNM","NA","NA","NA","c.3604G>C","p.A1202P","NA",0.406593,91,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear protein, coactivator of histone transcription","E14, E14/NPAT, p220",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","NUPL2","chr7",23236324,23236324,"NM_007342","A","G","missense","SNM","NA","NA","NA","c.548A>G","p.N183S","NA",0.293103,58,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nucleoporin like 2","CG1, NLP-1, NLP_1, hCG1",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDCL3","chr2",101185465,101185465,"NM_024065","G","A","missense","SNM","NA","NA","NA","c.206G>A","p.R69H","NA",0.337662,77,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosducin like 3","HTPHLP, PHLP2A, PHLP3, VIAF, VIAF1","This gene encodes a member of the phosducin-like protein family and is a putative modulator of heterotrimeric G proteins. The protein shares extensive amino acid sequence homology with phosducin. Members of the phosducin-like protein family have been shown to bind to the beta-gamma subunits of G proteins. [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PHLDB1","chr11",118502111,118502111,"NM_001144758","C","T","missense","SNM","NA","NA","NA","c.2015C>T","p.T672I","NA",0.327586,58,0,21,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pleckstrin homology like domain family B member 1","LL5A",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PIK3C3","chr18",39537553,39537553,"NM_002647","G","T","missense","SNM","NA","NA","NA","c.87G>T","p.K29N","NA",0.385714,70,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol 3-kinase catalytic subunit type 3","VPS34, Vps34, hVps34",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PJA1","chrX",68381977,68381977,"NM_145119","T","C","missense","SNM","NA","NA","NA","c.1105A>G","p.K369E","NA",0.658824,85,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","praja ring finger ubiquitin ligase 1","PRAJA1, RNF70","This gene encodes an enzyme that has E2-dependent E3 ubiquitin-protein ligase activity. This enzyme belongs to a class of ubiquitin ligases that include a RING finger motif, and it can interact with the E2 ubiquitin-conjugating enzyme UbcH5B. This gene is located in an area of chromosome X where several X-linked cognitive disability disorders have been associated, and it has also been found as part of a contiguous gene deletion associated with craniofrontonasal syndrome, though a direct link to any disorder has yet to be demonstrated. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRPF4B","chr6",4032031,4032031,"NM_003913","C","G","missense","SNM","NA","NA","NA","c.280C>G","p.P94A","NA",0.38,50,0,40,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pre-mRNA processing factor 4B","PR4H, PRP4, PRP4H, PRP4K, dJ1013A10.1","Pre-mRNA splicing occurs in two sequential transesterification steps, and the protein encoded by this gene is thought to be involved in pre-mRNA splicing and in signal transduction. This protein belongs to a kinase family that includes serine/arginine-rich protein-specific kinases and cyclin-dependent kinases (CDKs). This protein is regarded as a CDK-like kinase (Clk) with homology to mitogen-activated protein kinases (MAPKs). [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRPS2","chrX",12828183,12828183,"NM_001039091","G","T","missense","SNM","NA","NA","NA","c.457G>T","p.A153S","NA",0.38835,103,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphoribosyl pyrophosphate synthetase 2","PRSII","This gene encodes a phosphoribosyl pyrophosphate synthetase that plays a central role in the synthesis of purines and pyrimidines. The encoded protein catalyzes the synthesis of 5-phosphoribosyl 1-pyrophosphate from ATP and D-ribose 5-phosphate. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PSPH","chr7",56079481,56079481,"NM_004577","C","T","missense","SNM","NA","NA","NA","c.652G>A","p.E218K","NA",0.319444,72,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphoserine phosphatase","PSP, PSPHD","The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","PTEN","chr10",89692910,89692910,"NM_000314","G","A","missense","SNM","NA","NA","NA","c.394G>A","p.G132S","NA",0.614035,57,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatase and tensin homolog","10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, PTENbeta, TEP1","This gene was identified as a tumor suppressor that is mutated in a large number of cancers at high frequency. The protein encoded by this gene is a phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase. It contains a tensin like domain as well as a catalytic domain similar to that of the dual specificity protein tyrosine phosphatases. Unlike most of the protein tyrosine phosphatases, this protein preferentially dephosphorylates phosphoinositide substrates. It negatively regulates intracellular levels of phosphatidylinositol-3,4,5-trisphosphate in cells and functions as a tumor suppressor by negatively regulating AKT/PKB signaling pathway. The use of a non-canonical (CUG) upstream initiation site produces a longer isoform that initiates translation with a leucine, and is thought to be preferentially associated with the mitochondrial inner membrane. This longer isoform may help regulate energy metabolism in the mitochondria. A pseudogene of this gene is found on chromosome 9. Alternative splicing and the use of multiple translation start codons results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","QRSL1","chr6",107088246,107088246,"NM_018292","G","C","missense","SNM","NA","NA","NA","c.47G>C","p.G16A","NA",0.305556,71,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","QRSL1, glutaminyl-tRNA amidotransferase subunit A","GatA",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","RNF213","chr17",78264524,78264524,"NM_020954","C","G","missense","SNM","NA","NA","NA","c.1268C>G","p.T423S","NA",0.377953,127,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 213","ALO17, C17orf27, KIAA1618, MYMY2, MYSTR, NET57","This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","SEC63","chr6",108218875,108218875,"NM_007214","T","G","missense","SNM","NA","NA","NA","c.1418A>C","p.K473T","NA",0.413223,121,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein-transporting protein SEC63","YOR254C, PTL1",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMEK1","chr14",91937247,91937247,"NM_032560","T","C","missense","SNM","NA","NA","NA","c.1555A>G","p.I519V","NA",0.439024,82,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SMEK homolog 1, suppressor of mek1 (Dictyostelium)","fc60g09, si:dkey-65b13.2, wu:fc60g09",null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMURF1","chr7",98655140,98655140,"NM_020429","C","A","missense","SNM","NA","NA","NA","c.238G>T","p.V80L","NA",0.304124,194,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SMAD specific E3 ubiquitin protein ligase 1",null,"This gene encodes a ubiquitin ligase that is specific for receptor-regulated SMAD proteins in the bone morphogenetic protein (BMP) pathway. This protein plays a key roll in the regulation of cell motility, cell signalling, and cell polarity. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Dec 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMYD2","chr1",214492227,214492227,"NM_020197","G","C","missense","SNM","NA","NA","NA","c.435G>C","p.K145N","NA",0.245902,181,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SET and MYND domain containing 2","HSKM-B, KMT3C, ZMYND14","SET domain-containing proteins, such as SMYD2, catalyze lysine methylation (Brown et al., 2006 [PubMed 16805913]).[supplied by OMIM, Nov 2008]","Meth"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","STAM2","chr2",153003741,153003741,"NM_005843","G","C","missense","SNM","NA","NA","NA","c.382C>G","p.L128V","NA",0.424242,66,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","signal transducing adaptor molecule 2","Hbp, STAM2A, STAM2B","The protein encoded by this gene is closely related to STAM, an adaptor protein involved in the downstream signaling of cytokine receptors, both of which contain a SH3 domain and the immunoreceptor tyrosine-based activation motif (ITAM). Similar to STAM, this protein acts downstream of JAK kinases, and is phosphorylated in response to cytokine stimulation. This protein and STAM thus are thought to exhibit compensatory effects on the signaling pathway downstream of JAK kinases upon cytokine stimulation. [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMEM65","chr8",125343004,125343004,"NM_194291","C","T","missense","SNM","NA","NA","NA","c.334G>A","p.G112R","NA",0.270588,85,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transmembrane protein 65",null,null,"NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578217,7578217,"NM_000546","G","A","missense","SNM","NA","NA","NA","c.632C>T","p.T211I","NA",0.526718,131,0,98,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRIM33","chr1",114973450,114973450,"NM_015906","C","G","missense","SNM","NA","NA","NA","c.1125G>C","p.K375N","NA",0.324074,108,0,68,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tripartite motif containing 33","ECTO, PTC7, RFG7, TF1G, TIF1G, TIF1GAMMA, TIFGAMMA","The protein encoded by this gene is thought to be a transcriptional corepressor. However, molecules that interact with this protein have not yet been identified. The protein is a member of the tripartite motif family. This motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. Three alternatively spliced transcript variants for this gene have been described, however, the full-length nature of one variant has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRIO","chr5",14387957,14387957,"NM_007118","G","T","splicing","SNM","NA","NA","NA","c.3881_splice","e23+1","NA",0.228571,70,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","trio Rho guanine nucleotide exchange factor","ARHGEF23, MEBAS, MRD44, tgat","This gene encodes a large protein that functions as a GDP to GTP exchange factor. This protein promotes the reorganization of the actin cytoskeleton, thereby playing a role in cell migration and growth. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","TTLL5","chr14",76174007,76174007,"NM_015072","T","A","missense","SNM","NA","NA","NA","c.697T>A","p.Y233N","NA",0.375,64,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tubulin tyrosine ligase like 5","CORD19, KIAA0998, STAMP","This gene encodes a member of the tubulin tyrosine ligase like protein family. This protein interacts with two glucocorticoid receptor coactivators, transcriptional intermediary factor 2 and steroid receptor coactivator 1. This protein may function as a coregulator of glucocorticoid receptor mediated gene induction and repression. This protein may also function as an alpha tubulin polyglutamylase.[provided by RefSeq, Feb 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","UGDH","chr4",39507283,39507283,"NM_003359","A","G","missense","SNM","NA","NA","NA","c.992T>C","p.I331T","NA",0.422222,44,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","UDP-glucose 6-dehydrogenase","GDH, UDP-GlcDH, UDPGDH, UGD","The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]","NA"]
["S02269","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF160","chr19",53571677,53571677,"NM_001102603","G","A","missense","SNM","NA","NA","NA","c.2110C>T","p.P704S","NA",0.512658,158,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 160","F11, HKr18, HZF5, KR18","The protein encoded by this gene is a Kruppel-related zinc finger protein which is characterized by the presence of an N-terminal repressor domain, the Kruppel-associated box (KRAB). The KRAB domain is a potent repressor of transcription; thus this protein may function in transcription regulation. Multiple transcript variants have been found for this gene. [provided by RefSeq, Apr 2016]","NA"]
["S02270","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","EP300","chr22",41527436,41527436,"NM_001429","C","G","missense","SNM","NA","NA","NA","c.1327C>G","p.L443V","NA",0.211538,104,0,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","E1A binding protein p300","KAT3B, RSTS2, p300","This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]","NA"]
["S02270","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","PCDH17","chr13",58208312,58208312,"NM_001040429","G","T","missense","SNM","NA","NA","NA","c.1632G>T","p.Q544H","NA",0.3,80,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","protocadherin 17","PCDH68, PCH68","This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]","NA"]
["S02270","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","PCDH17","chr13",58208337,58208337,"NM_001040429","C","A","missense","SNM","NA","NA","NA","c.1657C>A","p.L553I","NA",0.257576,66,0,30,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","protocadherin 17","PCDH68, PCH68","This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein contains six extracellular cadherin domains, a transmembrane domain, and a cytoplasmic tail differing from those of the classical cadherins. The encoded protein may play a role in the establishment and function of specific cell-cell connections in the brain. [provided by RefSeq, Jul 2008]","NA"]
["S02270","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","RB1","chr13",49037944,49037944,"NM_000321","C","G","stopgain","SNM","NA","NA","NA","c.2184C>G","p.Y728*","NA",0.19403,67,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S02270","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","SERPINB8","chr18",61652356,61652357,"NM_002640","GG","TT","stopgain","DNM","NA","NA","NA","c.597_598delinsTT","p.KE199_200N*","NA",0.222278,94,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serpin family B member 8","C18orf53, CAP2, HMSD, HSMD-v, PI-8, PI8, PSS5","The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]","NA"]
["S02270","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","SERPINB8","chr18",61652426,61652426,"NM_002640","G","T","stopgain","SNM","NA","NA","NA","c.667G>T","p.E223*","NA",0.27619,105,0,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serpin family B member 8","C18orf53, CAP2, HMSD, HSMD-v, PI-8, PI8, PSS5","The protein encoded by this gene is a member of the ov-serpin family of serine protease inhibitors. The encoded protein is produced by platelets and can bind to and inhibit the function of furin, a serine protease involved in platelet functions. In addition, this protein has been found to enhance the mechanical stability of cell-cell adhesion in the skin, and defects in this gene have been associated with an autosomal-recessive form of exfoliative ichthyosis. [provided by RefSeq, Jan 2017]","NA"]
["S02270","LCNEC combined SCLC","NA","NA","yes","NA","NA","NA","TP53","chr17",7578530,7578530,"NM_000546","A","C","missense","SNM","NA","NA","NA","c.400T>G","p.F134V","NA",0.315476,168,0,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ACAD11","chr3",132358490,132358490,"NM_032169","C","A","missense","SNM","NA","NA","NA","c.548G>T","p.W183L","NA",0.25,52,0,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA dehydrogenase family member 11","ACAD-11","This gene encodes an acyl-CoA dehydrogenase enzyme with a preference for carbon chain lengths between 20 and 26. Naturally occurring read-through transcription occurs between the upstream gene NPHP3 (nephronophthisis 3 (adolescent)) and this gene. [provided by RefSeq, Aug 2015]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ACBD5","chr10",27499782,27499782,"NM_145698","C","A","stopgain","SNM","NA","NA","NA","c.1165G>T","p.G389*","NA",0.313253,166,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA binding domain containing 5",null,"This gene encodes a member of the acyl-Coenzyme A binding protein family, known to function in the transport and distribution of long chain acyl-Coenzyme A in cells. This gene may play a role in the differentiation of megakaryocytes and formation of platelets. A related protein in yeast is involved in autophagy of peroxisomes. A mutation in this gene has been associated with autosomal dominant thrombocytopenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTSL4","chr1",150532538,150532538,"NM_019032","G","C","missense","SNM","NA","NA","NA","c.3091G>C","p.D1031H","NA",0.285714,252,0,145,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ADAMTS like 4","ADAMTSL-4, ECTOL2, TSRC1","This gene is a member of ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs)-like gene family and encodes a protein with seven thrombospondin type 1 repeats. The thrombospondin type 1 repeat domain is found in many proteins with diverse biological functions including cellular adhesion, angiogenesis, and patterning of the developing nervous system. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Sep 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","AKAP6","chr14",33291442,33291442,"NM_004274","G","T","missense","SNM","NA","NA","NA","c.4423G>T","p.G1475C","NA",0.482759,87,0.0204082,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","A-kinase anchoring protein 6","ADAP100, ADAP6, AKAP100, PRKA6, mAKAP","The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene encodes a member of the AKAP family. The encoded protein is highly expressed in various brain regions and cardiac and skeletal muscle. It is specifically localized to the sarcoplasmic reticulum and nuclear membrane, and is involved in anchoring PKA to the nuclear membrane or sarcoplasmic reticulum. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ALDH4A1","chr1",19204010,19204010,"NM_170726","T","C","missense","SNM","NA","NA","NA","c.1037A>G","p.Q346R","NA",0.282051,78,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aldehyde dehydrogenase 4 family member A1","ALDH4, P5CD, P5CDh","This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ANKRD40","chr17",48777954,48777954,"NM_052855","C","A","missense","SNM","NA","NA","NA","c.258G>T","p.R86S","NA",0.372093,129,0,95,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ankyrin repeat domain 40",null,null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARSK","chr5",94927234,94927234,"NM_198150","C","A","missense","SNM","NA","NA","NA","c.1001C>A","p.A334E","NA",0.403509,57,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","arylsulfatase family member K","TSULF","Sulfatases (EC 3.1.5.6), such as ARSK, hydrolyze sulfate esters from sulfated steroids, carbohydrates, proteoglycans, and glycolipids. They are involved in hormone biosynthesis, modulation of cell signaling, and degradation of macromolecules (Sardiello et al., 2005 [PubMed 16174644]).[supplied by OMIM, Mar 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP13A2","chr1",17331509,17331509,"NM_022089","C","A","missense","SNM","NA","NA","NA","c.347G>T","p.S116I","NA",0.377778,90,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase cation transporting 13A2","CLN12, HSA9947, KRPPD, PARK9, SPG78","This gene encodes a member of the P5 subfamily of ATPases which transports inorganic cations as well as other substrates. Mutations in this gene are associated with Kufor-Rakeb syndrome (KRS), also referred to as Parkinson disease 9. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Nov 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP6V0B","chr1",44442028,44442028,"NM_004047","G","C","missense","SNM","NA","NA","NA","c.255G>C","p.R85S","NA",0.364407,118,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATPase H+ transporting V0 subunit b","ATP6F, HATPL, VMA16","This gene encodes a portion of the V0 domain of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. Activity of this enzyme is necessary for such varied processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATRN","chr20",3553426,3553426,"NM_139321","C","G","missense","SNM","NA","NA","NA","c.1920C>G","p.I640M","NA",0.28777,278,0,135,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","attractin","AW558010, Mgca, mg","This gene encodes a widely expressed transmembrane glycoprotein that plays important roles in diverse physiological processes such as regulation of hair pigmentation, monocyte-T cell interaction and control of energy homeostasis. The encoded preproprotein undergoes proteolytic processing to generate a mature, functional protein. Certain mutations in this gene are responsible for the mahogany mouse phenotype of dark brown or black coat on a normally agouti background. Mice with loss-of-function mutations in this gene exhibit black coat color, tremor, adiposity, higher basal metabolic rate, juvenile-onset hypomyelination and age-dependent spongiform neurodegeneration of the central nervous system. [provided by RefSeq, Jul 2016]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","BLMH","chr17",28593923,28593924,"NM_000386","CC","AA","missense","DNM","NA","NA","NA","c.1195_1196delinsTT","p.G399F","NA",0.258706,129,0.0106432,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bleomycin hydrolase","BH, BMH","Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","BSN","chr3",49694838,49694838,"NM_003458","G","C","missense","SNM","NA","NA","NA","c.7849G>C","p.E2617Q","NA",0.217054,128,0,98,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bassoon",null,null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","CCDC90B","chr11",82976988,82976988,"NM_021825","T","C","missense","SNM","NA","NA","NA","c.628A>G","p.S210G","NA",0.285714,126,0,123,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","coiled-coil domain containing 90B","MDS011, MDS025",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","CEP63","chr3",134214188,134214188,"NM_025180","A","G","missense","SNM","NA","NA","NA","c.26A>G","p.Q9R","NA",0.277778,108,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centrosomal protein 63","SCKL6","This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","CHGB","chr20",5904049,5904049,"NM_001819","G","A","missense","SNM","NA","NA","NA","c.1259G>A","p.R420K","NA",0.3,110,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromogranin B","SCG1","This gene encodes a tyrosine-sulfated secretory protein abundant in peptidergic endocrine cells and neurons. This protein may serve as a precursor for regulatory peptides. [provided by RefSeq, Jan 2009]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","COPS2","chr15",49436483,49436483,"NM_001143887","C","T","missense","SNM","NA","NA","NA","c.187G>A","p.E63K","NA",0.444444,18,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","COP9 signalosome subunit 2","ALIEN, CSN2, SGN2, TRIP15",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","CSTF2","chrX",100086518,100086518,"NM_001325","C","T","missense","SNM","NA","NA","NA","c.904C>T","p.P302S","NA",0.47205,161,0,128,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cleavage stimulation factor subunit 2","CstF-64","This gene encodes a nuclear protein with an RRM (RNA recognition motif) domain. The protein is a member of the cleavage stimulation factor (CSTF) complex that is involved in the 3' end cleavage and polyadenylation of pre-mRNAs. Specifically, this protein binds GU-rich elements within the 3'-untranslated region of mRNAs. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","CTBP1","chr4",1207316,1207316,"NM_001328","G","A","missense","SNM","NA","NA","NA","c.971C>T","p.S324F","NA",0.408805,159,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","C-terminal binding protein 1","BARS, HADDTS","This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2, can dimerize. Both proteins can also interact with a polycomb group protein complex which participates in regulation of gene expression during development. Alternative splicing of transcripts from this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DAB2IP","chr9",124545814,124545814,"NM_032552","G","T","splicing","SNM","NA","NA","NA","c.3390_splice","e17-1","NA",0.425,120,0.00854701,117,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DAB2 interacting protein","AF9Q34, AIP-1, AIP1, DIP1/2","DAB2IP is a Ras (MIM 190020) GTPase-activating protein (GAP) that acts as a tumor suppressor. The DAB2IP gene is inactivated by methylation in prostate and breast cancers (Yano et al., 2005 [PubMed 15386433]).[supplied by OMIM, May 2010]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DACH2","chrX",85969718,85969718,"NM_053281","A","T","missense","SNM","NA","NA","NA","c.1099A>T","p.I367L","NA",0.405405,37,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dachshund family transcription factor 2",null,"This gene is one of two genes which encode a protein similar to the Drosophila protein dachshund, a transcription factor involved in cell fate determination in the eye, limb and genital disc of the fly. The encoded protein contains two characteristic dachshund domains: an N-terminal domain responsible for DNA binding and a C-terminal domain responsible for protein-protein interactions. This gene is located on the X chromosome and is subject to inactivation by DNA methylation. The encoded protein may be involved in regulation of organogenesis and myogenesis, and may play a role in premature ovarian failure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDB1","chr11",61083831,61083831,"NM_001923","T","A","missense","SNM","NA","NA","NA","c.1336A>T","p.T446S","NA",0.345133,113,0,72,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","damage specific DNA binding protein 1","DDBA, UV-DDB1, XAP1, XPCE, XPE, XPE-BF","The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDB1","chr11",61094358,61094358,"NM_001923","T","A","missense","SNM","NA","NA","NA","c.557A>T","p.Q186L","NA",0.273504,117,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","damage specific DNA binding protein 1","DDBA, UV-DDB1, XAP1, XPCE, XPE, XPE-BF","The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DEPDC5","chr22",32241122,32241122,"NM_001242896","C","T","missense","SNM","NA","NA","NA","c.2920C>T","p.R974C","NA",0.330033,303,0,161,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEP domain containing 5","DEP.5, FFEVF, FFEVF1","This gene encodes a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DHX36","chr3",154027466,154027466,"NM_020865","C","A","missense","SNM","NA","NA","NA","c.789G>T","p.Q263H","NA",0.258427,89,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAH-box helicase 36","DDX36, G4R1, MLEL1, RHAU","This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DMXL1","chr5",118580083,118580083,"NM_005509","G","T","missense","SNM","NA","NA","NA","c.8671G>T","p.V2891F","NA",0.597015,67,0.0243902,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Dmx like 1",null,"The protein encoded by this gene is a member of the WD repeat superfamily of proteins, which have regulatory functions. This gene is expressed in many tissue types including several types of eye tissue, and it has been associated with ocular phenotypes. In addition, it is upregulated in cultured cells that overexpress growth factor independence 1B, a transcription factor that is essential for hematopoietic cell development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DST","chr6",56496154,56496154,"NM_015548","C","T","missense","SNM","NA","NA","NA","c.2386G>A","p.D796N","NA",0.320513,78,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dystonin","2310001O04Rik, A830042E19Rik, AW554249, BP230, BPAG1-n, Bpag, Bpag1, Macf2, ah, athetoid, dt, mKIAA0728, nmf203, nmf339",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","DUSP1","chr5",172195898,172195898,"NM_004417","G","A","missense","SNM","NA","NA","NA","c.971C>T","p.P324L","NA",0.592965,199,0.010989,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dual specificity phosphatase 1","CL100, HVH1, MKP-1, MKP1, PTPN10","The protein encoded by this gene is a phosphatase with dual specificity for tyrosine and threonine. The encoded protein can dephosphorylate MAP kinase MAPK1/ERK2, which results in its involvement in several cellular processes. This protein appears to play an important role in the human cellular response to environmental stress as well as in the negative regulation of cellular proliferation. Finally, the encoded protein can make some solid tumors resistant to both chemotherapy and radiotherapy, making it a target for cancer therapy. [provided by RefSeq, Aug 2017]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","EHD4","chr15",42193226,42193226,"NM_139265","C","A","missense","SNM","NA","NA","NA","c.1243G>T","p.G415C","NA",0.381295,138,0,124,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","EH domain containing 4","PAST4",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","EIF2B4","chr2",27591907,27591907,"NM_172195","C","A","missense","SNM","NA","NA","NA","c.444G>T","p.K148N","NA",0.347826,138,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation initiation factor 2B subunit delta","EIF-2B, EIF2B, EIF2Bdelta","Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","EP400","chr12",132546804,132546805,"NM_015409","GG","TT","missense","DNM","NA","NA","NA","c.8034_8035delinsTT","p.V2679F","NA",0.25225,107,0.0098039,50,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","E1A binding protein p400","CAGH32, P400, TNRC12",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAIM","chr3",138329822,138329822,"NM_001033030","C","T","missense","SNM","NA","NA","NA","c.23C>T","p.T8I","NA",0.256831,183,0,122,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Fas apoptotic inhibitory molecule",null,null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM53A","chr4",1643318,1643318,"NM_001174070","T","C","missense","SNM","NA","NA","NA","c.899A>G","p.K300R","NA",0.490909,110,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 53 member A","DNTNP",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","FCHO1","chr19",17894940,17894940,"NM_001161357","A","G","missense","SNM","NA","NA","NA","c.2122A>G","p.K708E","NA",0.27907,43,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FCH domain only 1",null,null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","FGFR1OP","chr6",167412952,167412952,"NM_007045","G","T","missense","SNM","NA","NA","NA","c.52G>T","p.D18Y","NA",0.211268,71,0.03125,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FGFR1 oncogene partner","FOP","This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","FHOD1","chr16",67265689,67265689,"NM_013241","G","A","missense","SNM","NA","NA","NA","c.2236C>T","p.R746W","NA",0.232068,237,0,151,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","formin homology 2 domain containing 1","FHOS","This gene encodes a protein which is a member of the formin/diaphanous family of proteins. The gene is ubiquitously expressed but is found in abundance in the spleen. The encoded protein has sequence homology to diaphanous and formin proteins within the Formin Homology (FH)1 and FH2 domains. It also contains a coiled-coil domain, a collagen-like domain, two nuclear localization signals, and several potential PKC and PKA phosphorylation sites. It is a predominantly cytoplasmic protein and is expressed in a variety of human cell lines. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","GLTSCR2","chr19",48260255,48260255,"NM_015710","G","T","splicing","SNM","NA","NA","NA","c.1431_splice","e13-1","NA",0.242991,214,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NOP53 ribosome biogenesis factor","GLTSCR2, PICT-1, PICT1",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","GNL1","chr6",30520334,30520334,"NM_005275","G","C","missense","SNM","NA","NA","NA","c.1009C>G","p.L337V","NA",0.314286,173,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","G protein nucleolar 1 (putative)","HSR1","The GNL1 gene, identified in the human major histocompatibility complex class I region, shows a high degree of similarity with its mouse counterpart. The GNL1 gene is located less than 2 kb centromeric to HLA-E, in the same transcriptional orientation. GNL1 is telomeric to HLA-B and HLA-C. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","GPHN","chr14",67579788,67579788,"NM_020806","A","T","missense","SNM","NA","NA","NA","c.1526A>T","p.H509L","NA",0.217949,78,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","gephyrin","GEPH, GPH, GPHRYN, HKPX1, MOCODC","This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","GSTM4","chr1",110201512,110201512,"NM_000850","C","A","missense","SNM","NA","NA","NA","c.437C>A","p.P146Q","NA",0.305466,622,0,441,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glutathione S-transferase mu 4","GSTM4-4, GTM4","Cytosolic and membrane-bound forms of glutathione S-transferase are encoded by two distinct supergene families. At present, eight distinct classes of the soluble cytoplasmic mammalian glutathione S-transferases have been identified: alpha, kappa, mu, omega, pi, sigma, theta and zeta. This gene encodes a glutathione S-transferase that belongs to the mu class. The mu class of enzymes functions in the detoxification of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins and products of oxidative stress, by conjugation with glutathione. The genes encoding the mu class of enzymes are organized in a gene cluster on chromosome 1p13.3 and are known to be highly polymorphic. These genetic variations can change an individual's susceptibility to carcinogens and toxins as well as affect the toxicity and efficacy of certain drugs. Diversification of these genes has occurred in regions encoding substrate-binding domains, as well as in tissue expression patterns, to accommodate an increasing number of foreign compounds. Multiple transcript variants, each encoding a distinct protein isoform, have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","GTF3C1","chr16",27472790,27472790,"NM_001520","C","A","missense","SNM","NA","NA","NA","c.6211G>T","p.V2071L","NA",0.280303,132,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","general transcription factor IIIC subunit 1","TFIIIC, TFIIIC220, TFIIICalpha",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","HDAC4","chr2",240098225,240098225,"NM_006037","T","C","missense","SNM","NA","NA","NA","c.374A>G","p.Q125R","NA",0.285714,112,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","histone deacetylase 4","AHO3, BDMR, HA6116, HD4, HDAC-4, HDAC-A, HDACA","Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene belongs to class II of the histone deacetylase/acuc/apha family. It possesses histone deacetylase activity and represses transcription when tethered to a promoter. This protein does not bind DNA directly, but through transcription factors MEF2C and MEF2D. It seems to interact in a multiprotein complex with RbAp48 and HDAC3. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","HIC2","chr22",21799467,21799467,"NM_015094","C","T","stopgain","SNM","NA","NA","NA","c.283C>T","p.Q95*","NA",0.274151,383,0,217,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","HIC ZBTB transcriptional repressor 2","HRG22, ZBTB30, ZNF907",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","HSPA12A","chr10",118434470,118434470,"NM_025015","C","A","missense","SNM","NA","NA","NA","c.1850G>T","p.G617V","NA",0.288618,246,0,152,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","heat shock protein family A (Hsp70) member 12A",null,null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","IRS1","chr2",227659973,227659973,"NM_005544","T","C","missense","SNM","NA","NA","NA","c.3482A>G","p.K1161R","NA",0.3125,95,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","insulin receptor substrate 1","HIRS-1","This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","IRS2","chr13",110438170,110438170,"NM_003749","C","G","missense","SNM","NA","NA","NA","c.231G>C","p.E77D","NA",0.346939,49,0,25,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","insulin receptor substrate 2","IRS-2","This gene encodes the insulin receptor substrate 2, a cytoplasmic signaling molecule that mediates effects of insulin, insulin-like growth factor 1, and other cytokines by acting as a molecular adaptor between diverse receptor tyrosine kinases and downstream effectors. The product of this gene is phosphorylated by the insulin receptor tyrosine kinase upon receptor stimulation, as well as by an interleukin 4 receptor-associated kinase in response to IL4 treatment. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIAA1274","chr10",72289702,72289702,"NM_014431","G","T","stopgain","SNM","NA","NA","NA","c.346G>T","p.G116*","NA",0.319672,122,0,71,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatase domain containing, paladin 1","KIAA1274, PALD",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","LRRC3","chr21",45877167,45877167,"NM_030891","T","A","missense","SNM","NA","NA","NA","c.640T>A","p.W214R","NA",0.289157,166,0,117,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat containing 3","C21orf102, C21orf30, LRRC3DN",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAP1S","chr19",17837190,17837190,"NM_018174","A","C","missense","SNM","NA","NA","NA","c.997A>C","p.N333H","NA",0.357143,28,0,22,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","microtubule associated protein 1S","BPY2IP1, C19orf5, MAP8, VCY2IP-1, VCY2IP1",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MAPKAPK3","chr3",50681887,50681887,"NM_004635","G","T","missense","SNM","NA","NA","NA","c.552G>T","p.K184N","NA",0.329193,161,0.00833333,120,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitogen-activated protein kinase-activated protein kinase 3","3PK, MAPKAP-K3, MAPKAP3, MAPKAPK-3, MDPT3, MK-3","This gene encodes a member of the Ser/Thr protein kinase family. This kinase functions as a mitogen-activated protein kinase (MAP kinase)- activated protein kinase. MAP kinases are also known as extracellular signal-regulated kinases (ERKs), act as an integration point for multiple biochemical signals. This kinase was shown to be activated by growth inducers and stress stimulation of cells. In vitro studies demonstrated that ERK, p38 MAP kinase and Jun N-terminal kinase were all able to phosphorylate and activate this kinase, which suggested the role of this kinase as an integrative element of signaling in both mitogen and stress responses. This kinase was reported to interact with, phosphorylate and repress the activity of E47, which is a basic helix-loop-helix transcription factor known to be involved in the regulation of tissue-specific gene expression and cell differentiation. Alternate splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2011]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MGAT2","chr14",50088498,50088499,"NM_002408","CG","TT","missense","DNM","NA","NA","NA","c.512_513delinsTT","p.P171L","NA",0.297541,121,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase","CDG2A, CDGS2, GLCNACTII, GNT-II, GNT2","The product of this gene is a Golgi enzyme catalyzing an essential step in the conversion of oligomannose to complex N-glycans. The enzyme has the typical glycosyltransferase domains: a short N-terminal cytoplasmic domain, a hydrophobic non-cleavable signal-anchor domain, and a C-terminal catalytic domain. Mutations in this gene may lead to carbohydrate-deficient glycoprotein syndrome, type II. The coding region of this gene is intronless. Transcript variants with a spliced 5' UTR may exist, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MKRN3","chr15",23810963,23810963,"NM_005664","G","A","missense","SNM","NA","NA","NA","c.34G>A","p.E12K","NA",0.469388,49,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","makorin ring finger protein 3","CPPB2, D15S9, RNF63, ZFP127, ZNF127","The protein encoded by this gene contains a RING (C3HC4) zinc finger motif and several C3H zinc finger motifs. This gene is intronless and imprinted, with expression only from the paternal allele. Disruption of the imprinting at this locus may contribute to Prader-Willi syndrome. An antisense RNA of unknown function has been found overlapping this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MMS22L","chr6",97679472,97679472,"NM_198468","C","A","missense","SNM","NA","NA","NA","c.1359G>T","p.K453N","NA",0.37037,27,0,54,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MMS22 like, DNA repair protein","C6orf167, dJ39B17.2","The protein encoded by this gene forms a complex with tonsoku-like, DNA repair protein (TONSL), and this complex recognizes and repairs DNA double-strand breaks at sites of stalled or collapsed replication forks. The encoded protein also can bind with the histone-associated protein NFKBIL2 to help regulate the chromatin state at stalled replication forks. Finally, this gene appears to be overexpressed in most lung and esophageal cancers. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MRAP","chr21",33686944,33686944,"NM_206898","A","G","missense","SNM","NA","NA","NA","c.289A>G","p.R97G","NA",0.268293,123,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","melanocortin 2 receptor accessory protein","B27, C21orf61, FALP, FGD2, GCCD2","This gene encodes a melanocortin receptor-interacting protein. The encoded protein regulates trafficking and function of the melanocortin 2 receptor in the adrenal gland. The encoded protein can also modulate signaling of other melanocortin receptors. Mutations in this gene have been associated with familial glucocorticoid deficiency type 2. Alternatively spliced transcript variants have been described. [provided by RefSeq, Dec 2009]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MTHFR","chr1",11855302,11855302,"NM_005957","C","T","missense","SNM","NA","NA","NA","c.884G>A","p.R295H","NA",0.293103,232,0.0075188,133,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","methylenetetrahydrofolate reductase",null,"The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","MTSS1L","chr16",70698083,70698083,"NM_138383","C","A","missense","SNM","NA","NA","NA","c.1741G>T","p.A581S","NA",0.333333,42,0,34,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","MTSS1L, I-BAR domain containing","ABBA, ABBA-1, ABBA1",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","NOTCH1","chr9",139393422,139393422,"NM_017617","C","G","missense","SNM","NA","NA","NA","c.6109G>C","p.A2037P","NA",0.428571,146,0,163,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","notch 1","AOS5, AOVD1, TAN1, hN1","This gene encodes a member of the NOTCH family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor plays a role in the development of numerous cell and tissue types. Mutations in this gene are associated with aortic valve disease, Adams-Oliver syndrome, T-cell acute lymphoblastic leukemia, chronic lymphocytic leukemia, and head and neck squamous cell carcinoma. [provided by RefSeq, Jan 2016]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","NRAS","chr1",115256540,115256540,"NM_002524","A","T","missense","SNM","NA","NA","NA","c.171T>A","p.D57E","NA",0.361702,94,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","NRAS proto-oncogene, GTPase","ALPS4, CMNS, N-ras, NCMS, NRAS1, NS6","This is an N-ras oncogene encoding a membrane protein that shuttles between the Golgi apparatus and the plasma membrane. This shuttling is regulated through palmitoylation and depalmitoylation by the ZDHHC9-GOLGA7 complex. The encoded protein, which has intrinsic GTPase activity, is activated by a guanine nucleotide-exchange factor and inactivated by a GTPase activating protein. Mutations in this gene have been associated with somatic rectal cancer, follicular thyroid cancer, autoimmune lymphoproliferative syndrome, Noonan syndrome, and juvenile myelomonocytic leukemia. [provided by RefSeq, Jun 2011]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","NUMA1","chr11",71725325,71725325,"NM_006185","G","A","missense","SNM","NA","NA","NA","c.3224C>T","p.A1075V","NA",0.229508,60,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear mitotic apparatus protein 1","NMP-22, NUMA","This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","NUP107","chr12",69083334,69083334,"NM_020401","A","T","missense","SNM","NA","NA","NA","c.122A>T","p.N41I","NA",0.338983,59,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nucleoporin 107","NPHS11, NUP84, ODG6","This gene encodes a member of the nucleoporin family. The protein is localized to the nuclear rim and is an essential component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","OCA2","chr15",28171315,28171315,"NM_000275","C","A","missense","SNM","NA","NA","NA","c.2037G>T","p.W679C","NA",0.304348,23,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","oculocutaneous albinism II","D7H15S12, D7Icr28RN, D7Nic1, p, p&lt;cas&gt;",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","P4HA2","chr5",131544830,131544830,"NM_004199","C","A","splicing","SNM","NA","NA","NA","c.903_splice","e7+1","NA",0.613333,150,0,93,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","prolyl 4-hydroxylase subunit alpha 2","MYP25","This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PACRG","chr6",163483345,163483345,"NM_152410","C","A","missense","SNM","NA","NA","NA","c.455C>A","p.P152Q","NA",0.322222,90,0,67,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","parkin coregulated","GLUP, HAK005771, PARK2CRG","This gene encodes a protein that is conserved across metazoans. In vertebrates, this gene is linked in a head-to-head arrangement with the adjacent parkin gene, which is associated with autosomal recessive juvenile Parkinson's disease. These genes are co-regulated in various tissues and they share a bi-directional promoter. Both genes are associated with susceptibility to leprosy. The parkin co-regulated gene protein forms a large molecular complex with chaperones, including heat shock proteins 70 and 90, and chaperonin components. This protein is also a component of Lewy bodies in Parkinson's disease patients, and it suppresses unfolded Pael receptor-induced neuronal cell death. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PAPD4","chr5",78936955,78936955,"NM_001114393","C","G","missense","SNM","NA","NA","NA","c.608C>G","p.S203C","NA",0.333333,30,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","poly(A) RNA polymerase D4, non-canonical",null,null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PIDD","chr11",802050,802050,"NM_145886","C","T","missense","SNM","NA","NA","NA","c.1217G>A","p.R406Q","NA",0.152381,105,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","p53-induced death domain protein 1","LRDD, PIDD","The protein encoded by this gene contains a leucine-rich repeat and a death domain. This protein has been shown to interact with other death domain proteins, such as Fas (TNFRSF6)-associated via death domain (FADD) and MAP-kinase activating death domain-containing protein (MADD), and thus may function as an adaptor protein in cell death-related signaling processes. The expression of the mouse counterpart of this gene has been found to be positively regulated by the tumor suppressor p53 and to induce cell apoptosis in response to DNA damage, which suggests a role for this gene as an effector of p53-dependent apoptosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PIGO","chr9",35093113,35093114,"NM_032634","CC","AT","missense","DNM","NA","NA","NA","c.1032_1033delinsAT","p.MA344_345IS","NA",0.459098,79,0.0063291,80,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol glycan anchor biosynthesis class O","HPMRS2","This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PLK1","chr16",23700582,23700582,"NM_005030","G","T","missense","SNM","NA","NA","NA","c.1294G>T","p.V432L","NA",0.225941,239,0.00877193,114,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","polo like kinase 1","PLK, STPK13","The Ser/Thr protein kinase encoded by this gene belongs to the CDC5/Polo subfamily. It is highly expressed during mitosis and elevated levels are found in many different types of cancer. Depletion of this protein in cancer cells dramatically inhibited cell proliferation and induced apoptosis; hence, it is a target for cancer therapy. [provided by RefSeq, Sep 2015]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PPP2R5A","chr1",212459486,212459486,"NM_006243","A","G","missense","SNM","NA","NA","NA","c.34A>G","p.S12G","NA",0.291667,24,0,21,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein phosphatase 2 regulatory subunit B'alpha","B56A, B56alpha, PR61A","The product of this gene belongs to the phosphatase 2A regulatory subunit B family. Protein phosphatase 2A is one of the four major Ser/Thr phosphatases, and it is implicated in the negative control of cell growth and division. It consists of a common heteromeric core enzyme, which is composed of a catalytic subunit and a constant regulatory subunit, that associates with a variety of regulatory subunits. The B regulatory subunit might modulate substrate selectivity and catalytic activity. This gene encodes an alpha isoform of the regulatory subunit B56 subfamily. Alternative transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Dec 2010]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PRKCG","chr19",54403538,54403538,"NM_002739","C","T","missense","SNM","NA","NA","NA","c.1333C>T","p.H445Y","NA",0.311628,215,0,128,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein kinase C gamma","PKC-gamma, PKCC, PKCG, PKCI(3), PKCgamma, SCA14","Protein kinase C (PKC) is a family of serine- and threonine-specific protein kinases that can be activated by calcium and second messenger diacylglycerol. PKC family members phosphorylate a wide variety of protein targets and are known to be involved in diverse cellular signaling pathways. PKC also serve as major receptors for phorbol esters, a class of tumor promoters. Each member of the PKC family has a specific expression profile and is believed to play distinct roles in cells. The protein encoded by this gene is one of the PKC family members. This protein kinase is expressed solely in the brain and spinal cord and its localization is restricted to neurons. It has been demonstrated that several neuronal functions, including long term potentiation (LTP) and long term depression (LTD), specifically require this kinase. Knockout studies in mice also suggest that this kinase may be involved in neuropathic pain development. Defects in this protein have been associated with neurodegenerative disorder spinocerebellar ataxia-14 (SCA14). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PSEN2","chr1",227069749,227069749,"NM_000447","G","T","missense","SNM","NA","NA","NA","c.141G>T","p.W47C","NA",0.267606,71,0.030303,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","presenilin 2","AD3L, AD4, CMD1V, PS2, STM2","Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PTPRO","chr12",15654865,15654865,"NM_030667","A","T","missense","SNM","NA","NA","NA","c.973A>T","p.S325C","NA",0.291667,48,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","protein tyrosine phosphatase, receptor type O","GLEPP1, NPHS6, PTP-OC, PTP-U2, PTPROT, PTPU2, R-PTP-O","This gene encodes a member of the R3 subtype family of receptor-type protein tyrosine phosphatases. These proteins are localized to the apical surface of polarized cells and may have tissue-specific functions through activation of Src family kinases. This gene contains two distinct promoters, and alternatively spliced transcript variants encoding multiple isoforms have been observed. The encoded proteins may have multiple isoform-specific and tissue-specific functions, including the regulation of osteoclast production and activity, inhibition of cell proliferation and facilitation of apoptosis. This gene is a candidate tumor suppressor, and decreased expression of this gene has been observed in several types of cancer. [provided by RefSeq, May 2011]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","PXK","chr3",58383381,58383381,"NM_017771","T","C","missense","SNM","NA","NA","NA","c.1034T>C","p.M345T","NA",0.319635,219,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","PX domain containing serine/threonine kinase like","MONAKA, SLOB","This gene encodes a phox (PX) domain-containing protein which may be involved in synaptic transmission and the ligand-induced internalization and degradation of epidermal growth factors. Variations in this gene may be associated with susceptibility to systemic lupus erythematosus (SLE). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","RBBP6","chr16",24582798,24582798,"NM_006910","A","G","missense","SNM","NA","NA","NA","c.4411A>G","p.R1471G","NA",0.4,55,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RB binding protein 6, ubiquitin ligase","MY038, P2P-R, PACT, RBQ-1, SNAMA","The retinoblastoma tumor suppressor (pRB) protein binds with many other proteins. In various human cancers, pRB suppresses cellular proliferation and is inactivated. Cell cycle-dependent phosphorylation regulates the activity of pRB. This gene encodes a protein which binds to underphosphorylated but not phosphorylated pRB. Multiple alternatively spliced transcript variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","RSBN1L","chr7",77326154,77326154,"NM_198467","C","G","missense","SNM","NA","NA","NA","c.368C>G","p.P123R","NA",0.325581,43,0,29,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","round spermatid basic protein 1 like",null,null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SALL3","chr18",76753607,76753607,"NM_171999","G","T","missense","SNM","NA","NA","NA","c.1616G>T","p.G539V","NA",0.24,25,0,27,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","spalt like transcription factor 3","B130022O04Rik, Msal, Msal-1, Sal, Salt, Spalt",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SH3KBP1","chrX",19713843,19713843,"NM_031892","C","A","missense","SNM","NA","NA","NA","c.407G>T","p.W136L","NA",0.333333,96,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SH3 domain containing kinase binding protein 1","CD2BP3, CIN85, GIG10, HSB-1, HSB1, MIG18","This gene encodes an adapter protein that contains one or more N-terminal Src homology domains, a proline rich region and a C-terminal coiled-coil domain. The encoded protein facilitates protein-protein interactions and has been implicated in numerous cellular processes including apoptosis, cytoskeletal rearrangement, cell adhesion and in the regulation of clathrin-dependent endocytosis. Alternate splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2017]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC1A3","chr5",36674174,36674174,"NM_004172","T","C","missense","SNM","NA","NA","NA","c.548T>C","p.V183A","NA",0.192593,135,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 1 (glial high affinity glutamate transporter), member 3","AI504299, B430115D02Rik, Eaat1, GLAST, GLAST-1, GLU-T, GluT-1, Gmt1, MGluT1",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC22A17","chr14",23816765,23816765,"NM_020372","G","C","missense","SNM","NA","NA","NA","c.1120C>G","p.L374V","NA",0.422819,149,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 22 member 17","24p3R, BOCT, BOIT, NGALR, NGALR2, NGALR3, hBOIT",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC44A5","chr1",75704227,75704227,"NM_152697","T","G","missense","SNM","NA","NA","NA","c.627A>C","p.R209S","NA",0.352941,85,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 44 member 5","CTL5",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC44A5","chr1",75716922,75716922,"NM_152697","C","G","missense","SNM","NA","NA","NA","c.318G>C","p.L106F","NA",0.33945,109,0.0108696,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 44 member 5","CTL5",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC4A3","chr2",220497055,220497055,"NM_201574","G","T","missense","SNM","NA","NA","NA","c.1113G>T","p.W371C","NA",0.232955,176,0.00961538,104,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 4 member 3","AE3, CAE3/BAE3, SLC2C","The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLX4","chr16",3640737,3640737,"NM_032444","C","G","missense","SNM","NA","NA","NA","c.2902G>C","p.E968Q","NA",0.359551,89,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SLX4 structure-specific endonuclease subunit","BTBD12, FANCP, MUS312","This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SMARCA4","chr19",11135010,11135010,"NM_001128849","G","T","stopgain","SNM","NA","NA","NA","c.2977G>T","p.E993*","NA",0.352941,68,0,53,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4","BAF190, BAF190A, BRG1, CSS4, MRD16, RTPS2, SNF2, SNF2L4, SNF2LB, SWI2, hSNF2b","The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]","SWI.SNF"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","STAU1","chr20",47782582,47782582,"NM_017453","T","A","missense","SNM","NA","NA","NA","c.157A>T","p.N53Y","NA",0.338583,127,0,143,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","staufen double-stranded RNA binding protein 1","PPP1R150, STAU","Staufen is a member of the family of double-stranded RNA (dsRNA)-binding proteins involved in the transport and/or localization of mRNAs to different subcellular compartments and/or organelles. These proteins are characterized by the presence of multiple dsRNA-binding domains which are required to bind RNAs having double-stranded secondary structures. The human homologue of staufen encoded by STAU, in addition contains a microtubule- binding domain similar to that of microtubule-associated protein 1B, and binds tubulin. The STAU gene product has been shown to be present in the cytoplasm in association with the rough endoplasmic reticulum (RER), implicating this protein in the transport of mRNA via the microtubule network to the RER, the site of translation. Five transcript variants resulting from alternative splicing of STAU gene and encoding three isoforms have been described. Three of these variants encode the same isoform, however, differ in their 5'UTR. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","STIP1","chr11",63967710,63967710,"NM_006819","A","G","missense","SNM","NA","NA","NA","c.1190A>G","p.Y397C","NA",0.28972,106,0,57,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","stress induced phosphoprotein 1","HEL-S-94n, HOP, IEF-SSP-3521, P60, STI1, STI1L","STIP1 is an adaptor protein that coordinates the functions of HSP70 (see HSPA1A; MIM 140550) and HSP90 (see HSP90AA1; MIM 140571) in protein folding. It is thought to assist in the transfer of proteins from HSP70 to HSP90 by binding both HSP90 and substrate-bound HSP70. STIP1 also stimulates the ATPase activity of HSP70 and inhibits the ATPase activity of HSP90, suggesting that it regulates both the conformations and ATPase cycles of these chaperones (Song and Masison, 2005 [PubMed 16100115]).[supplied by OMIM, Jul 2009]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SV2A","chr1",149880769,149880769,"NM_014849","C","T","missense","SNM","NA","NA","NA","c.1354G>A","p.G452S","NA",0.30402,398,0,240,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","synaptic vesicle glycoprotein 2 a","AI746429, mKIAA0736",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","SYT4","chr18",40850328,40850328,"NM_020783","C","A","missense","SNM","NA","NA","NA","c.1256G>T","p.W419L","NA",0.302083,96,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","synaptotagmin IV","SytIV","The protein encoded by this gene belongs to the synaptotagmin family. Members of this family are multi-domained, integral membrane proteins of synaptic vesicles, and are thought to serve as Ca2+ sensors in the process of vesicular trafficking and exocytosis. This gene is primarily expressed in the nervous tissues. [provided by RefSeq, Jul 2008]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","TCF7L1","chr2",85531029,85531029,"NM_031283","C","A","missense","SNM","NA","NA","NA","c.670C>A","p.P224T","NA",0.25,188,0,105,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transcription factor 7 like 1 (T cell specific, HMG box)","Tcf-3, Tcf3, bHLHb21",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7577560,7577560,"NM_000546","A","G","missense","SNM","NA","NA","NA","c.721T>C","p.S241P","NA",0.5,181,0,120,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRABD","chr22",50636340,50636340,"NM_025204","A","T","missense","SNM","NA","NA","NA","c.760A>T","p.T254S","NA",0.256506,269,0,191,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","TraB domain containing","LP6054, PP2447",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRIB3","chr20",372189,372189,"NM_021158","A","G","missense","SNM","NA","NA","NA","c.550A>G","p.K184E","NA",0.246154,195,0,101,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tribbles pseudokinase 3","C20orf97, NIPK, SINK, SKIP3, TRB3","The protein encoded by this gene is a putative protein kinase that is induced by the transcription factor NF-kappaB. The encoded protein is a negative regulator of NF-kappaB and can also sensitize cells to TNF- and TRAIL-induced apoptosis. In addition, this protein can negatively regulate the cell survival serine-threonine kinase AKT1. Differential promoter usage and alternate splicing result in multiple transcript variants. [provided by RefSeq, Jul 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","TRIM45","chr1",117663730,117663730,"NM_025188","A","G","missense","SNM","NA","NA","NA","c.94T>C","p.C32R","NA",0.292035,113,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tripartite motif containing 45","RNF99","This gene encodes a member of the tripartite motif family. The encoded protein may function as a transcriptional repressor of the mitogen-activated protein kinase pathway. Alternatively spliced transcript variants have been described.[provided by RefSeq, Mar 2009]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","UMPS","chr3",124458978,124458978,"NM_000373","G","T","missense","SNM","NA","NA","NA","c.1090G>T","p.G364W","NA",0.293478,184,0.010989,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","uridine monophosphate synthetase","OPRT","This gene encodes a uridine 5'-monophosphate synthase. The encoded protein is a bifunctional enzyme that catalyzes the final two steps of the de novo pyrimidine biosynthetic pathway. The first reaction is carried out by the N-terminal enzyme orotate phosphoribosyltransferase which converts orotic acid to orotidine-5'-monophosphate. The terminal reaction is carried out by the C-terminal enzyme OMP decarboxylase which converts orotidine-5'-monophosphate to uridine monophosphate. Defects in this gene are the cause of hereditary orotic aciduria. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","VPS39","chr15",42459102,42459102,"NM_015289","C","A","missense","SNM","NA","NA","NA","c.1387G>T","p.A463S","NA",0.425,120,0,87,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","VPS39, HOPS complex subunit","TLP, VAM6, hVam6p","This gene encodes a protein that may promote clustering and fusion of late endosomes and lysosomes. The protein may also act as an adaptor protein that modulates the transforming growth factor-beta response by coupling the transforming growth factor-beta receptor complex to the Smad pathway. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","VRK2","chr2",58359030,58359030,"NM_001130481","A","G","missense","SNM","NA","NA","NA","c.764A>G","p.K255R","NA",0.319277,166,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","VRK serine/threonine kinase 2",null,"This gene encodes a member of the vaccinia-related kinase (VRK) family of serine/threonine protein kinases. The encoded protein acts as an effector of signaling pathways that regulate apoptosis and tumor cell growth. Variants in this gene have been associated with schizophrenia. Alternative splicing results in multiple transcript variants that differ in their subcellular localization and biological activity. [provided by RefSeq, Jan 2014]","NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","XAB2","chr19",7684934,7684934,"NM_020196","C","G","missense","SNM","NA","NA","NA","c.2294G>C","p.G765A","NA",0.243902,41,0,31,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","XPA binding protein 2","HCNP, HCRN, NTC90, SYF1",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF415","chr19",53611800,53611800,"NM_001164309","C","A","stopgain","SNM","NA","NA","NA","c.1498G>T","p.E500*","NA",0.302703,185,0,176,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 415","Pact, ZfLp",null,"NA"]
["S02271","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF514","chr2",95815125,95815125,"NM_032788","C","A","stopgain","SNM","NA","NA","NA","c.1105G>T","p.E369*","NA",0.322222,90,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 514",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","AAAS","chr12",53708877,53708877,"NM_015665","C","T","splicing","SNM","NA","NA","NA","c.446_splice","e6+1","NA",0.108696,92,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","aladin WD repeat nucleoporin","AAA, AAASb, ADRACALA, ADRACALIN, ALADIN, GL003","The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS), also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2010]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ABCB10","chr1",229661764,229661764,"NM_012089","C","A","missense","SNM","NA","NA","NA","c.1825G>T","p.V609L","NA",0.22093,86,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP binding cassette subfamily B member 10","EST20237, M-ABC2, MTABC2","The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.  ABC proteins transport various molecules across extra- and intra-cellular membranes.  ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White).  This protein is a member of the MDR/TAP subfamily.  Members of the MDR/TAP subfamily are involved in multidrug resistance.  The function of this mitochondrial protein is unknown. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ACAD9","chr3",128603548,128603548,"NM_014049","A","G","missense","SNM","NA","NA","NA","c.203A>G","p.N68S","NA",0.46,50,0,45,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","acyl-CoA dehydrogenase family member 9","NPD002","This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ADAMTS12","chr5",33642033,33642033,"NM_030955","C","T","missense","SNM","NA","NA","NA","c.1600G>A","p.V534M","NA",0.252252,111,0,35,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","ADAM metallopeptidase with thrombospondin type 1 motif 12","PRO4389","This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. Members of the family share several distinct protein modules, including a propeptide region, a metalloproteinase domain, a disintegrin-like domain, and a thrombospondin type 1 (TS-1) motif. Individual members of this family differ in the number of C-terminal TS-1 motifs, and some have unique C-terminal domains. The enzyme encoded by this gene contains eight TS-1 motifs. It may play roles in pulmonary cells during fetal development or in tumor processes through its proteolytic activity or as a molecule potentially involved in regulation of cell adhesion. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARHGEF10","chr8",1905157,1905157,"NM_014629","G","C","missense","SNM","NA","NA","NA","c.3763G>C","p.D1255H","NA",0.21374,131,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","Rho guanine nucleotide exchange factor 10","GEF10, SNCV","This gene encodes a Rho guanine nucleotide exchange factor (GEF). Rho GEFs regulate the activity of small Rho GTPases by stimulating the exchange of guanine diphosphate (GDP) for guanine triphosphate (GTP) and may play a role in neural morphogenesis. Mutations in this gene are associated with slowed nerve conduction velocity (SNCV). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ARID1A","chr1",27105931,27105931,"NM_006015","-","G","frameshift insertion","INS","NA","NA","NA","c.5541_5542insG","p.G1848fs","NA",0.0981595,163,0,77,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","AT-rich interaction domain 1A","B120, BAF250, BAF250a, BM029, C1orf4, CSS2, ELD, MRD14, OSA1, P270, SMARCF1, hELD, hOSA1","This gene encodes a member of the SWI/SNF family, whose members have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. It possesses at least two conserved domains that could be important for its function. First, it has a DNA-binding domain that can specifically bind an AT-rich DNA sequence known to be recognized by a SNF/SWI complex at the beta-globin locus. Second, the C-terminus of the protein can stimulate glucocorticoid receptor-dependent transcriptional activation. It is thought that the protein encoded by this gene confers specificity to the SNF/SWI complex and may recruit the complex to its targets through either protein-DNA or protein-protein interactions. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]","SWI.SNF"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATP5B","chr12",57039093,57039093,"NM_001686","C","T","missense","SNM","NA","NA","NA","c.172G>A","p.A58T","NA",0.330986,142,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ATP synthase, H+ transporting mitochondrial F1 complex, beta subunit","Atp5f1b",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ATXN1","chr6",16326956,16326956,"NM_000332","T","A","missense","SNM","NA","NA","NA","c.1586A>T","p.K529M","NA",0.263889,432,0,169,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ataxin 1","ATX1, D6S504E, SCA1","The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the `pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. The function of the ataxins is not known. This locus has been mapped to chromosome 6, and it has been determined that the diseased allele contains 40-83 CAG repeats, compared to 6-39 in the normal allele, and is associated with spinocerebellar ataxia type 1 (SCA1). Alternative splicing results in multiple transcript variants, with one variant encoding multiple distinct proteins, ATXN1 and Alt-ATXN1, due to the use of overlapping alternate reading frames. [provided by RefSeq, Nov 2017]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","BLMH","chr17",28599806,28599806,"NM_000386","T","C","missense","SNM","NA","NA","NA","c.913A>G","p.I305V","NA",0.103448,261,0,187,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","bleomycin hydrolase","BH, BMH","Bleomycin hydrolase (BMH) is a cytoplasmic cysteine peptidase that is highly conserved through evolution; however, the only known activity of the enzyme is metabolic inactivation of the glycopeptide bleomycin (BLM), an essential component of combination chemotherapy regimens for cancer. The protein contains the signature active site residues of the cysteine protease papain superfamily. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","CAPRIN1","chr11",34101238,34101238,"NM_005898","A","T","missense","SNM","NA","NA","NA","c.752A>T","p.N251I","NA",0.231707,82,0,43,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cell cycle associated protein 1","GPIAP1, GPIP137, GRIP137, M11S1, RNG105, p137GPI",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","CELSR1","chr22",46792617,46792617,"NM_014246","C","G","missense","SNM","NA","NA","NA","c.5728G>C","p.A1910P","NA",0.2,135,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cadherin, EGF LAG seven-pass G-type receptor 1","Adgrc1, Crsh, Scy, crash",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","CNKSR3","chr6",154727583,154727583,"NM_173515","T","C","missense","SNM","NA","NA","NA","c.1573A>G","p.K525E","NA",0.144578,166,0,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CNKSR family member 3","CNK3, CNK3/IPCEF1, MAGI1",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","COCH","chr14",31355261,31355261,"NM_004086","C","A","missense","SNM","NA","NA","NA","c.1220C>A","p.A407D","NA",0.0838926,298,0,138,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cochlin","COCH-5B2, COCH5B2, DFNA9, DFNB110","The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","CUL2","chr10",35322186,35322186,"NM_001198778","C","T","missense","SNM","NA","NA","NA","c.1075G>A","p.V359M","NA",0.1,80,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","cullin 2",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","DCLRE1A","chr10",115609919,115609919,"NM_014881","T","G","missense","SNM","NA","NA","NA","c.945A>C","p.K315N","NA",0.194805,77,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DNA cross-link repair 1A","PSO2, SNM1, SNM1A","This gene encodes a conserved protein that is involved in the repair of DNA interstrand cross-links. DNA cross-links suppress transcription, replication, and DNA segregation. The encoded protein is a regulator of the mitotic cell cycle checkpoint. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","DYRK2","chr12",68051259,68051259,"NM_006482","G","T","missense","SNM","NA","NA","NA","c.572G>T","p.R191L","NA",0.113924,79,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","dual specificity tyrosine phosphorylation regulated kinase 2",null," DYRK2 belongs to a family of protein kinases whose members are presumed to be involved in cellular growth and/or development.  The family is defined by structural similarity of their kinase domains and their capability to autophosphorylate on tyrosine residues.  DYRK2 has demonstrated tyrosine autophosphorylation and catalyzed phosphorylation of histones H3 and H2B in vitro.  Two isoforms of DYRK2 have been isolated.  The predominant isoform, isoform 1, lacks a 5' terminal insert. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","EIF4H","chr7",73601948,73601948,"NM_022170","G","T","missense","SNM","NA","NA","NA","c.67G>T","p.G23C","NA",0.109489,137,0,78,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","eukaryotic translation initiation factor 4H","WBSCR1, WSCR1, eIF-4H","This gene encodes one of the translation initiation factors, which functions to stimulate the initiation of protein synthesis at the level of mRNA utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative splicing of this gene generates 2 transcript variants. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ELMO2","chr20",45017712,45017712,"NM_133171","T","A","missense","SNM","NA","NA","NA","c.391A>T","p.R131W","NA",0.169329,313,0,134,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","engulfment and cell motility 2","CED-12, CED12, Ced-12A, ELMO-2, VMPI","The protein encoded by this gene interacts with the dedicator of cyto-kinesis 1 protein. Similarity to a C. elegans protein suggests that this protein may function in phagocytosis of apoptotic cells and in cell migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ESPL1","chr12",53683035,53683035,"NM_012291","G","T","missense","SNM","NA","NA","NA","c.4870G>T","p.V1624F","NA",0.124224,161,0.0151515,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","extra spindle pole bodies like 1, separase","ESP1, SEPA","Stable cohesion between sister chromatids before anaphase and their timely separation during anaphase are critical for chromosome inheritance. In vertebrates, sister chromatid cohesion is released in 2 steps via distinct mechanisms. The first step involves phosphorylation of STAG1 (MIM 604358) or STAG2 (MIM 300826) in the cohesin complex. The second step involves cleavage of the cohesin subunit SCC1 (RAD21; MIM 606462) by ESPL1, or separase, which initiates the final separation of sister chromatids (Sun et al., 2009 [PubMed 19345191]).[supplied by OMIM, Nov 2010]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","EVI5L","chr19",7916378,7916378,"NM_001159944","A","G","missense","SNM","NA","NA","NA","c.812A>G","p.Y271C","NA",0.0935484,310,0,152,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ecotropic viral integration site 5 like",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","FBXO34","chr14",55818694,55818694,"NM_017943","A","T","missense","SNM","NA","NA","NA","c.1586A>T","p.E529V","NA",0.138462,130,0,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","F-box protein 34","CGI-301, Fbx34","Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","FBXW2","chr9",123526905,123526905,"NM_012164","C","T","missense","SNM","NA","NA","NA","c.1297G>A","p.G433S","NA",0.132812,384,0,201,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","F-box and WD repeat domain containing 2","FBW2, Fwd2, Md6","F-box proteins are an expanding family of eukaryotic proteins characterized by an approximately 40 amino acid motif, the F box. Some F-box proteins have been shown to be critical for the ubiquitin-mediated degradation of cellular regulatory proteins. In fact, F-box proteins are one of the four subunits of ubiquitin protein ligases, called SCFs. SCF ligases bring ubiquitin conjugating enzymes to substrates that are specifically recruited by the different F-box proteins. Mammalian F-box proteins are classified into three groups based on the presence of either WD-40 repeats, leucine-rich repeats, or the presence or absence of other protein-protein interacting domains. This gene encodes the second identified member of the F-box gene family and contains multiple WD-40 repeats. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","FIG4","chr6",110064412,110064412,"NM_014845","G","A","missense","SNM","NA","NA","NA","c.976G>A","p.G326R","NA",0.228571,70,0,87,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FIG4 phosphoinositide 5-phosphatase","ALS11, BTOP, CMT4J, KIAA0274, SAC3, YVS, dJ249I4.1","The protein encoded by this gene belongs to the SAC domain-containing protein gene family. The SAC domain, approximately 400 amino acids in length and consisting of seven conserved motifs, has been shown to possess phosphoinositide phosphatase activity. The yeast homolog, Sac1p, is involved in the regulation of various phosphoinositides, and affects diverse cellular functions such as actin cytoskeleton organization, Golgi function, and maintenance of vacuole morphology. Membrane-bound phosphoinositides function as signaling molecules and play a key role in vesicle trafficking in eukaryotic cells. Mutations in this gene have been associated with Charcot-Marie-Tooth disease, type 4J. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","FOXG1","chr14",29237616,29237616,"NM_005249","C","G","missense","SNM","NA","NA","NA","c.1131C>G","p.H377Q","NA",0.108527,129,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","forkhead box G1","2900064B05Rik, BF-1, Bf1, Hfh9, Hfhbf1",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","FSTL1","chr3",120122199,120122199,"NM_007085","C","A","missense","SNM","NA","NA","NA","c.584G>T","p.G195V","NA",0.25,84,0,73,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","follistatin like 1","FRP, FSL1, MIR198, OCC-1, OCC1, tsc36","This gene encodes a protein with similarity to follistatin, an activin-binding protein. It contains an FS module, a follistatin-like sequence containing 10 conserved cysteine residues. This gene product is thought to be an autoantigen associated with rheumatoid arthritis. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","FTSJ2","chr7",2274936,2274936,"NM_013393","C","A","missense","SNM","NA","NA","NA","c.562G>T","p.G188W","NA",0.0826087,230,0,110,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","FtsJ RNA methyltransferase homolog 2 (E. coli)","wu:fa18a02",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","GAS7","chr17",9843494,9843494,"NM_201433","G","T","missense","SNM","NA","NA","NA","c.755C>A","p.A252E","NA",0.126866,134,0.0206186,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","growth arrest specific 7",null,"Growth arrest-specific 7 is expressed primarily in terminally differentiated brain cells and predominantly in mature cerebellar Purkinje neurons. GAS7 plays a putative role in neuronal development. Several transcript variants encoding proteins which vary in the N-terminus have been described. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","IL10RB","chr21",34660525,34660525,"NM_000628","G","C","missense","SNM","NA","NA","NA","c.763G>C","p.A255P","NA",0.262411,141,0,91,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","interleukin 10 receptor subunit beta","CDW210B, CRF2-4, CRFB4, D21S58, D21S66, IL-10R2","The protein encoded by this gene belongs to the cytokine receptor family. It is an accessory chain essential for the active interleukin 10 receptor complex. Coexpression of this and IL10RA proteins has been shown to be required for IL10-induced signal transduction. This gene and three other interferon receptor genes, IFAR2, IFNAR1, and IFNGR2, form a class II cytokine receptor gene cluster located in a small region on chromosome 21. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","IREB2","chr15",78775750,78775750,"NM_004136","G","T","missense","SNM","NA","NA","NA","c.1387G>T","p.D463Y","NA",0.418367,98,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","iron responsive element binding protein 2","ACO3, IRE-BP 2, IRE-BP2, IRP2, IRP2AD","The protein encoded by this gene is an RNA-binding protein that acts to regulate iron levels in the cells by regulating the translation and stability of mRNAs that affect iron homeostasis under conditions when iron is depleted. When iron levels are low, this protein binds to iron-responsive elements (IRES), stem-loop structures located either in the 5' or 3' UTRs. Binding to the 5' UTR represses translation, while binding to the 3' UTR inhibits mRNA degradation. When iron is found in the cell, this protein is degraded in a F-box and leucine rich repeat protein 5-dependent manner. Variants in this gene have been associated with lung cancer and chronic obstructive pulmonary disease (COPD). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","IRS1","chr2",227660462,227660462,"NM_005544","C","A","missense","SNM","NA","NA","NA","c.2993G>T","p.R998L","NA",0.217391,69,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","insulin receptor substrate 1","HIRS-1","This gene encodes a protein which is phosphorylated by insulin receptor tyrosine kinase. Mutations in this gene are associated with type II diabetes and susceptibility to insulin resistance. [provided by RefSeq, Nov 2009]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","KIF22","chr16",29802117,29802117,"NM_007317","G","T","stopgain","SNM","NA","NA","NA","c.37G>T","p.E13*","NA",0.168067,119,0,42,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kinesin family member 22","A-328A3.2, KID, KNSL4, OBP, OBP-1, OBP-2, SEMDJL2","The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. The C-terminal half of this protein has been shown to bind DNA. Studies with the Xenopus homolog suggests its essential role in metaphase chromosome alignment and maintenance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","LAMA4","chr6",112439017,112439017,"NM_001105206","T","A","missense","SNM","NA","NA","NA","c.4906A>T","p.S1636C","NA",0.213592,103,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","laminin, alpha 4",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","LARP6","chr15",71125053,71125053,"NM_018357","C","A","missense","SNM","NA","NA","NA","c.814G>T","p.A272S","NA",0.304124,194,0,100,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","La ribonucleoprotein domain family member 6","ACHN",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","LGR5","chr12",71978411,71978411,"NM_003667","C","A","missense","SNM","NA","NA","NA","c.2621C>A","p.S874Y","NA",0.191617,167,0,88,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","leucine rich repeat containing G protein coupled receptor 5","FEX, Gpr49","The protein encoded by this gene is a leucine-rich repeat-containing receptor (LGR) and member of the G protein-coupled, 7-transmembrane receptor (GPCR) superfamily. The encoded protein is a receptor for R-spondins and is involved in the canonical Wnt signaling pathway. This protein plays a role in the formation and maintenance of adult intestinal stem cells during postembryonic development. [provided by RefSeq, Sep 2015]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","LPAR3","chr1",85331473,85331473,"NM_012152","T","C","missense","SNM","NA","NA","NA","c.331A>G","p.S111G","NA",0.0990991,111,0,55,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysophosphatidic acid receptor 3","EDG7, Edg-7, GPCR, HOFNH30, LP-A3, LPA3, RP4-678I3","This gene encodes a member of the G protein-coupled receptor family, as well as the EDG family of proteins. This protein functions as a cellular receptor for lysophosphatidic acid and mediates lysophosphatidic acid-evoked calcium mobilization. This receptor couples predominantly to G(q/11) alpha proteins. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","LPHN2","chr1",82445633,82445633,"NM_012302","G","T","missense","SNM","NA","NA","NA","c.3051G>T","p.L1017F","NA",0.5,32,0,19,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","latrophilin 2",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","MCOLN1","chr19",7593528,7593528,"NM_020533","C","A","missense","SNM","NA","NA","NA","c.923C>A","p.T308N","NA",0.189744,195,0,115,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mucolipin 1","MG-2, ML1, ML4, MLIV, MST080, MSTP080, TRP-ML1, TRPM-L1, TRPML1","This gene encodes a memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. [provided by RefSeq, Oct 2009]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","MFN2","chr1",12064176,12064176,"NM_014874","G","T","splicing","SNM","NA","NA","NA","c.1287_splice","e10+1","NA",0.226415,53,0,20,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mitofusin 2","CMT2A, CMT2A2, CMT2A2A, CMT2A2B, CPRP1, HMSN6A, HSG, MARF","This gene encodes a mitochondrial membrane protein that participates in mitochondrial fusion and contributes to the maintenance and operation of the mitochondrial network. This protein is involved in the regulation of vascular smooth muscle cell proliferation, and it may play a role in the pathophysiology of obesity. Mutations in this gene cause Charcot-Marie-Tooth disease type 2A2, and hereditary motor and sensory neuropathy VI, which are both disorders of the peripheral nervous system. Defects in this gene have also been associated with early-onset stroke. Two transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","MMP14","chr14",23311246,23311246,"NM_004995","T","G","splicing","SNM","NA","NA","NA","c.380_splice","e3+2","NA",0.1,250,0,112,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","matrix metallopeptidase 14","MMP-14, MMP-X1, MT-MMP, MT-MMP 1, MT1-MMP, MT1MMP, MTMMP1, WNCHRS","Proteins of the matrix metalloproteinase (MMP) family are involved in the breakdown of extracellular matrix in normal physiological processes, such as embryonic development, reproduction, and tissue remodeling, as well as in disease processes, such as arthritis and metastasis. Most MMP's are secreted as inactive proproteins which are activated when cleaved by extracellular proteinases. However, the protein encoded by this gene is a member of the membrane-type MMP (MT-MMP) subfamily; each member of this subfamily contains a potential transmembrane domain suggesting that these proteins are expressed at the cell surface rather than secreted. This protein activates MMP2 protein, and this activity may be involved in tumor invasion. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","MTHFD1","chr14",64898304,64898304,"NM_005956","G","T","missense","SNM","NA","NA","NA","c.1366G>T","p.V456F","NA",0.0735294,136,0,94,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1","CIMAH, MTHFC, MTHFD","This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","MTOR","chr1",11169422,11169422,"NM_004958","C","G","missense","SNM","NA","NA","NA","c.7453G>C","p.D2485H","NA",0.241611,149,0,97,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","mechanistic target of rapamycin kinase","FRAP, FRAP1, FRAP2, RAFT1, RAPT1, SKS","The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Sep 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","NAMPT","chr7",105903937,105903937,"NM_005746","T","C","missense","SNM","NA","NA","NA","c.870A>G","p.I290M","NA",0.426471,68,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nicotinamide phosphoribosyltransferase","1110035O14Rik, PBEF, PBEF1, VF, VISFATIN","This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","NCDN","chr1",36026629,36026629,"NM_014284","G","T","missense","SNM","NA","NA","NA","c.877G>T","p.G293C","NA",0.21978,91,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","neurochondrin",null,"This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","NOL4","chr18",31463349,31463349,"NM_003787","C","T","missense","SNM","NA","NA","NA","c.1582G>A","p.A528T","NA",0.135294,170,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nucleolar protein 4","CT125, HRIHFB2255, NOLP",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","NSD1","chr5",176709499,176709499,"NM_022455","A","G","missense","SNM","NA","NA","NA","c.5926A>G","p.I1976V","NA",0.378151,119,0,116,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","nuclear receptor binding SET domain protein 1","ARA267, KMT3B, SOTOS, SOTOS1, STO","This gene encodes a protein containing a SET domain, 2 LXXLL motifs, 3 nuclear translocation signals (NLSs), 4 plant homeodomain (PHD) finger regions, and a proline-rich region. The encoded protein enhances androgen receptor (AR) transactivation, and this enhancement can be increased further in the presence of other androgen receptor associated coregulators. This protein may act as a nucleus-localized, basic transcriptional factor and also as a bifunctional transcriptional regulator. Mutations of this gene have been associated with Sotos syndrome and Weaver syndrome. One version of childhood acute myeloid leukemia is the result of a cryptic translocation with the breakpoints occurring within nuclear receptor-binding Su-var, enhancer of zeste, and trithorax domain protein 1 on chromosome 5 and nucleoporin, 98-kd on chromosome 11. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Sep 2018]","Meth"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PDK4","chr7",95217127,95217127,"NM_002612","C","A","missense","SNM","NA","NA","NA","c.782G>T","p.R261L","NA",0.184211,38,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","pyruvate dehydrogenase kinase 4",null,"This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PI4KB","chr1",151271347,151271347,"NM_002651","C","A","missense","SNM","NA","NA","NA","c.1988G>T","p.R663L","NA",0.0922509,271,0,139,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol 4-kinase beta","NPIK, PI4K-BETA, PI4K92, PI4KBETA, PI4KIIIBETA, PIK4CB",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PICALM","chr11",85692981,85692981,"NM_007166","C","T","missense","SNM","NA","NA","NA","c.1582G>A","p.A528T","NA",0.216418,134,0,111,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","phosphatidylinositol binding clathrin assembly protein","CALM, CLTH, LAP","This gene encodes a clathrin assembly protein, which recruits clathrin and adaptor protein complex 2 (AP2) to cell membranes at sites of coated-pit formation and clathrin-vesicle assembly. The protein may be required to determine the amount of membrane to be recycled, possibly by regulating the size of the clathrin cage. The protein is involved in AP2-dependent clathrin-mediated endocytosis at the neuromuscular junction. A chromosomal translocation t(10;11)(p13;q14) leading to the fusion of this gene and the MLLT10 gene is found in acute lymphoblastic leukemia, acute myeloid leukemia and malignant lymphomas. The polymorphisms of this gene are associated with the risk of Alzheimer disease. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2011]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PMPCA","chr9",139307283,139307283,"NM_015160","A","C","missense","SNM","NA","NA","NA","c.376A>C","p.K126Q","NA",0.141892,148,0,146,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","peptidase, mitochondrial processing alpha subunit","Alpha-MPP, CLA1, CPD3, INPP5E, P-55, SCAR2","The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PNPLA8","chr7",108137065,108137065,"NM_015723","C","A","missense","SNM","NA","NA","NA","c.1588G>T","p.A530S","NA",0.263158,57,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","patatin-like phospholipase domain containing 8","1200006O19Rik, AI467579, Ipla2(gamma)",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PNPLA8","chr7",108154726,108154726,"NM_015723","C","A","missense","SNM","NA","NA","NA","c.1068G>T","p.R356S","NA",0.243243,74,0,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","patatin-like phospholipase domain containing 8","1200006O19Rik, AI467579, Ipla2(gamma)",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PSMD13","chr11",248826,248826,"NM_175932","G","T","missense","SNM","NA","NA","NA","c.625G>T","p.G209C","NA",0.186567,134,0.0114943,87,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","proteasome 26S subunit, non-ATPase 13","HSPC027, Rpn9, S11, p40.5","The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","PSMD13","chr11",252529,252529,"NM_175932","G","T","stopgain","SNM","NA","NA","NA","c.1066G>T","p.E356*","NA",0.135021,237,0,142,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","proteasome 26S subunit, non-ATPase 13","HSPC027, Rpn9, S11, p40.5","The 26S proteasome is a multicatalytic proteinase complex with a highly ordered structure composed of 2 complexes, a 20S core and a 19S regulator. The 20S core is composed of 4 rings of 28 non-identical subunits; 2 rings are composed of 7 alpha subunits and 2 rings are composed of 7 beta subunits. The 19S regulator is composed of a base, which contains 6 ATPase subunits and 2 non-ATPase subunits, and a lid, which contains up to 10 non-ATPase subunits. Proteasomes are distributed throughout eukaryotic cells at a high concentration and cleave peptides in an ATP/ubiquitin-dependent process in a non-lysosomal pathway.  An essential function of a modified proteasome, the immunoproteasome, is the processing of class I MHC peptides. This gene encodes a non-ATPase subunit of the 19S regulator. Two transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","RAP2C","chrX",131351076,131351076,"NM_021183","T","A","missense","SNM","NA","NA","NA","c.221A>T","p.N74I","NA",0.215054,93,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RAP2C, member of RAS oncogene family",null,"The protein encoded by this gene is a member of the Ras-related protein subfamily of the Ras GTPase superfamily. Members of this family are small GTPases that act as molecular switches to regulate cellular proliferation, differentiation, and apoptosis. This protein has been reported to activate in vitro transcriptional activity of the serum response element. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2012]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","RRP12","chr10",99140590,99140590,"NM_015179","G","C","missense","SNM","NA","NA","NA","c.1499C>G","p.A500G","NA",0.0863309,139,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ribosomal RNA processing 12 homolog","KIAA0690",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","SALL1","chr16",51173640,51173640,"NM_002968","G","T","missense","SNM","NA","NA","NA","c.2493C>A","p.D831E","NA",0.327684,177,0.0222222,90,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","spalt like transcription factor 1","Msal-3",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","SIN3B","chr19",16952603,16952603,"NM_015260","G","T","missense","SNM","NA","NA","NA","c.406G>T","p.G136C","NA",0.238411,151,0.0144928,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","SIN3 transcription regulator family member B",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","SLC25A43","chrX",118544222,118544222,"NM_145305","G","C","missense","SNM","NA","NA","NA","c.587G>C","p.R196P","NA",0.189189,185,0,60,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","solute carrier family 25 member 43",null,"This gene encodes a member of the mitochondrial carrier family of proteins.[provided by RefSeq, Dec 2009]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK11","chr19",1207203,1207204,"NM_000455","GT","-","splicing","DEL","NA","NA","NA","c.290_splice","e1+1_+2","NA",0.268908,119,0,81,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","TDP1","chr14",90450922,90450922,"NM_018319","C","A","missense","SNM","NA","NA","NA","c.947C>A","p.P316Q","NA",0.142857,119,0,86,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tyrosyl-DNA phosphodiesterase 1",null,"The protein encoded by this gene is involved in repairing stalled topoisomerase I-DNA complexes by catalyzing the hydrolysis of the phosphodiester bond between the tyrosine residue of topoisomerase I and the 3-prime phosphate of DNA. This protein may also remove glycolate from single-stranded DNA containing 3-prime phosphoglycolate, suggesting a role in repair of free-radical mediated DNA double-strand breaks. This gene is a member of the phospholipase D family and contains two PLD phosphodiesterase domains. Mutations in this gene are associated with the disease spinocerebellar ataxia with axonal neuropathy (SCAN1). [provided by RefSeq, Aug 2016]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","TLK1","chr2",171862988,171862988,"NM_012290","C","G","missense","SNM","NA","NA","NA","c.1764G>C","p.K588N","NA",0.25641,39,0,33,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tousled like kinase 1","PKU-beta","The protein encoded by this gene is a serine/threonine kinase that may be involved in the regulation of chromatin assembly. The encoded protein is only active when it is phosphorylated, and this phosphorylation is cell cycle-dependent, with the maximal activity of this protein coming during S phase. The catalytic activity of this protein is diminished by DNA damage and by blockage of DNA replication. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","TMX3","chr18",66344427,66344427,"NM_019022","T","C","missense","SNM","NA","NA","NA","c.1108A>G","p.I370V","NA",0.179487,39,0,38,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","thioredoxin related transmembrane protein 3","PDIA13, TXNDC10","This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The canonical protein encoded by this gene has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Apr 2017]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7578457,7578457,"NM_000546","C","A","missense","SNM","NA","NA","NA","c.473G>T","p.R158L","NA",0.346939,196,0,85,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","TPP2","chr13",103279430,103279430,"NM_003291","G","T","missense","SNM","NA","NA","NA","c.853G>T","p.V285L","NA",0.328358,67,0,52,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","tripeptidyl peptidase 2","TPP-2, TPP-II, TPPII","This gene encodes a mammalian peptidase that, at neutral pH, removes tripeptides from the N terminus of longer peptides. The protein has a specialized function that is essential for some MHC class I antigen presentation. The protein is a high molecular mass serine exopeptidase; the amino acid sequence surrounding the serine residue at the active site is similar to the peptidases of the subtilisin class rather than the trypsin class. [provided by RefSeq, Jul 2008]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","WDR91","chr7",134889112,134889112,"NM_014149","G","C","missense","SNM","NA","NA","NA","c.799C>G","p.P267A","NA",0.110294,136,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","WD repeat domain 91","HSPC049, SORF-1, SORF1",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","XAB2","chr19",7687309,7687309,"NM_020196","G","A","missense","SNM","NA","NA","NA","c.1525C>T","p.R509C","NA",0.0722892,165,0,92,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","XPA binding protein 2","HCNP, HCRN, NTC90, SYF1",null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZIK1","chr19",58102011,58102011,"NM_001010879","C","A","missense","SNM","NA","NA","NA","c.832C>A","p.Q278K","NA",0.18018,111,0,75,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein interacting with K protein 1",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF468","chr19",53344681,53344681,"NM_001008801","T","C","missense","SNM","NA","NA","NA","c.866A>G","p.H289R","NA",0.126866,134,0,103,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 468",null,null,"NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZNF644","chr1",91404210,91404210,"NM_201269","C","A","stopgain","SNM","NA","NA","NA","c.2701G>T","p.E901*","NA",0.413793,29,0,37,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger protein 644","BM-005, MYP21, NatF, ZEP-2","The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]","NA"]
["S02272","LCNEC","NA","LCNEC","yes","NA","NA","NA","ZSCAN18","chr19",58600106,58600106,"NM_001145542","T","A","missense","SNM","NA","NA","NA","c.670A>T","p.S224C","NA",0.267857,56,0,23,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","zinc finger and SCAN domain containing 18","ZNF447",null,"NA"]
["S02332","LCNEC","NA","LCNEC","yes","NA","NA","NA","RB1","chr13",48937055,48937055,"NM_000321","G","T","stopgain","SNM","NA","NA","NA","c.823G>T","p.E275*","NA",0.642857,28,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","RB transcriptional corepressor 1","OSRC, PPP1R130, RB, p105-Rb, pRb, pp110","The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]","NA"]
["S02332","LCNEC","NA","LCNEC","yes","NA","NA","NA","TP53","chr17",7579373,7579373,"NM_000546","C","-","frameshift deletion","DEL","NA","NA","NA","c.314delG","p.G105fs","NA",0.674419,43,0,48,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","tumor protein p53","BCC7, LFS1, P53, TRP53","This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","C12orf57","chr12",7053292,7053292,"NM_138425","C","T","missense","SNM","NA","NA","NA","c.8C>T","p.S3F","NA",0.418301,153,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","chromosome 12 open reading frame 57","C10, GRCC10","This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","CDC42BPB","chr14",103440462,103440462,"NM_006035","A","C","missense","SNM","NA","NA","NA","c.1532T>G","p.L511R","NA",0.677419,62,0.0454545,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CDC42 binding protein kinase beta","MRCKB","This gene encodes a member of the serine/threonine protein kinase family. The encoded protein contains a Cdc42/Rac-binding p21 binding domain resembling that of PAK kinase. The kinase domain of this protein is most closely related to that of myotonic dystrophy kinase-related ROK. Studies of the similar gene in rat suggested that this kinase may act as a downstream effector of Cdc42 in cytoskeletal reorganization. [provided by RefSeq, Jul 2008]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","CENPL","chr1",173772132,173772132,"NM_001127181","A","C","missense","SNM","NA","NA","NA","c.1070T>G","p.V357G","NA",0.180952,105,0,51,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","centromere protein L","C1orf155, CENP-L, dJ383J4.3","CENPL is a subunit of a CENPH (MIM 605607)-CENPI (MIM 300065)-associated centromeric complex that targets CENPA (MIM 117139) to centromeres and is required for proper kinetochore function and mitotic progression (Okada et al., 2006) [PubMed 16622420].[supplied by OMIM, Mar 2008]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","CLIP1","chr12",122862243,122862243,"NM_001247997","A","G","missense","SNM","NA","NA","NA","c.350T>C","p.I117T","NA",0.393939,165,0,46,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","CAP-Gly domain containing linker protein 1","CLIP, CLIP-170, CLIP170, CYLN1, RSN","The protein encoded by this gene links endocytic vesicles to microtubules. This gene is highly expressed in Reed-Sternberg cells of Hodgkin disease. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","DDX41","chr5",176941826,176941826,"NM_016222","G","A","missense","SNM","NA","NA","NA","c.811C>T","p.R271W","NA",0.203704,54,0,44,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAD-box helicase 41","ABS, MPLPF","DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The protein encoded by this gene is a member of the DEAD box protein family and interacts with several spliceosomal proteins. In addition, the encoded protein may recognize the bacterial second messengers cyclic di-GMP and cyclic di-AMP, resulting in the induction of genes involved in the innate immune response. [provided by RefSeq, Jan 2017]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","DHX35","chr20",37653951,37653951,"NM_021931","C","A","missense","SNM","NA","NA","NA","c.1750C>A","p.Q584K","NA",0.278075,187,0.0176991,113,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","DEAH-box helicase 35","C20orf15, DDX35, KAIA0875","DEAD box proteins characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of the DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The function of this gene product which is a member of this family, has not been determined. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jun 2010]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","ECE1","chr1",21584050,21584050,"NM_001397","C","G","missense","SNM","NA","NA","NA","c.796G>C","p.D266H","NA",0.627451,204,0.00980392,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","endothelin converting enzyme 1","ECE","The protein encoded by this gene is involved in proteolytic processing of endothelin precursors to biologically active peptides. Mutations in this gene are associated with Hirschsprung disease, cardiac defects and autonomic dysfunction. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Sep 2009]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","EXOSC10","chr1",11151641,11151641,"NM_001001998","T","G","missense","SNM","NA","NA","NA","c.386A>C","p.D129A","NA",0.513889,72,0,61,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","exosome component 10","PM-Scl, PM/Scl-100, PMSCL, PMSCL2, RRP6, Rrp6p, p2, p3, p4",null,"NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","FAM114A2","chr5",153407728,153407728,"NM_018691","C","T","missense","SNM","NA","NA","NA","c.611G>A","p.R204Q","NA",0.410959,146,0,84,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","family with sequence similarity 114 member A2","133K02, C5orf3",null,"NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","GEMIN5","chr5",154278184,154278184,"NM_015465","T","C","missense","SNM","NA","NA","NA","c.3161A>G","p.D1054G","NA",0.5,48,0,32,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","gem nuclear organelle associated protein 5","GEMIN-5","This gene encodes a WD repeat protein that is a component of the survival of motor neurons (SMN) complex. The SMN complex plays a critical role in mRNA splicing through the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs), and may also mediate the assembly and transport of other classes of ribonucleoproteins. The encoded protein is the snRNA-binding component of the SMN complex. Dysregulation of this gene may play a role in alternative mRNA splicing and tumor cell motility. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","GLT8D1","chr3",52730298,52730298,"NM_018446","G","T","missense","SNM","NA","NA","NA","c.484C>A","p.P162T","NA",0.278481,79,0,65,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","glycosyltransferase 8 domain containing 1","AD-017, MSTP139","This gene encodes a member of the glycosyltransferase family. The specific function of this protein has not been determined. Alternative splicing results in multiple transcript variants of this gene [provided by RefSeq, May 2013]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","GOLIM4","chr3",167728122,167728122,"NM_014498","C","A","stopgain","SNM","NA","NA","NA","c.2026G>T","p.E676*","NA",0.383459,133,0,69,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","golgi integral membrane protein 4","GIMPC, GOLPH4, GPP130, P138","The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a type II Golgi-resident protein. It may process proteins synthesized in the rough endoplasmic reticulum and assist in the transport of protein cargo through the Golgi apparatus. [provided by RefSeq, Jul 2008]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","IGFBP2","chr2",217525352,217525352,"NM_000597","G","T","missense","SNM","NA","NA","NA","c.515G>T","p.G172V","NA",0.474684,158,0,66,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","insulin like growth factor binding protein 2","IBP2, IGF-BP53","The protein encoded by this gene is one of six similar proteins that bind insulin-like growth factors I and II (IGF-I and IGF-II). The encoded protein can be secreted into the bloodstream, where it binds IGF-I and IGF-II with high affinity, or it can remain intracellular, interacting with many different ligands. High expression levels of this protein promote the growth of several types of tumors and may be predictive of the chances of recovery of the patient. Several transcript variants, one encoding a secreted isoform and the others encoding nonsecreted isoforms, have been found for this gene. [provided by RefSeq, Sep 2015]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","INHA","chr2",220440184,220440184,"NM_002191","G","A","missense","SNM","NA","NA","NA","c.1037G>A","p.G346E","NA",0.530303,66,0,41,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","inhibin subunit alpha",null,"This gene encodes a member of the TGF-beta (transforming growth factor-beta) superfamily of proteins. The encoded preproprotein is proteolytically processed to generate multiple peptide products, including the alpha subunit of the inhibin A and B protein complexes. These complexes negatively regulate follicle stimulating hormone secretion from the pituitary gland. Inhibins have also been implicated in regulating numerous cellular processes including cell proliferation, apoptosis, immune response and hormone secretion. Mutations in this gene may be associated with male infertility and premature ovarian failure in female human patients. [provided by RefSeq, Aug 2016]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","KAT6B","chr10",76788385,76788385,"NM_012330","G","T","missense","SNM","NA","NA","NA","c.3803G>T","p.G1268V","NA",0.3125,96,0,39,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","lysine acetyltransferase 6B","GTPTS, MORF, MOZ2, MYST4, ZC2HC6B, qkf, querkopf","The protein encoded by this gene is a histone acetyltransferase and component of the MOZ/MORF protein complex. In addition to its acetyltransferase activity, the encoded protein has transcriptional activation activity in its N-terminal end and transcriptional repression activity in its C-terminal end. This protein is necessary for RUNX2-dependent transcriptional activation and could be involved in brain development. Mutations have been found in patients with genitopatellar syndrome. A translocation of this gene and the CREBBP gene results in acute myeloid leukemias. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2012]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","KEAP1","chr19",10610228,10610228,"NM_012289","A","C","missense","SNM","NA","NA","NA","c.482T>G","p.M161R","NA",0.537549,253,0.00806452,124,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger & RNAseq","NA","NA","NA","NA","kelch like ECH associated protein 1","INrf2, KLHL19","This gene encodes a protein containing KELCH-1 like domains, as well as a BTB/POZ domain. Kelch-like ECH-associated protein 1 interacts with NF-E2-related factor 2 in a redox-sensitive manner and the dissociation of the proteins in the cytoplasm is followed by transportation of NF-E2-related factor 2 to the nucleus. This interaction results in the expression of the catalytic subunit of gamma-glutamylcysteine synthetase. Two alternatively spliced transcript variants encoding the same isoform have been found for this gene. [provided by RefSeq, Jul 2008]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","KLHL7","chr7",23213820,23213820,"NM_001031710","G","T","missense","SNM","NA","NA","NA","c.1664G>T","p.W555L","NA",0.227273,242,0,177,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","kelch like family member 7","CISS3, KLHL6, SBBI26","This gene encodes a BTB-Kelch-related protein. The encoded protein may be involved in protein degradation. Mutations in this gene have been associated with retinitis pigmentosa 42. [provided by RefSeq, Feb 2010]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","PEPD","chr19",33892732,33892732,"NM_000285","T","A","missense","SNM","NA","NA","NA","c.862A>T","p.I288F","NA",0.310924,238,0,102,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","peptidase D","PROLIDASE","This gene encodes a member of the peptidase family. The protein forms a homodimer that hydrolyzes dipeptides or tripeptides with C-terminal proline or hydroxyproline residues. The enzyme serves an important role in the recycling of proline, and may be rate limiting for the production of collagen. Mutations in this gene result in prolidase deficiency, which is characterized by the excretion of large amount of di- and tri-peptides containing proline. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","PGCP","chr8",97847344,97847344,"NM_016134","G","A","missense","SNM","NA","NA","NA","c.577G>A","p.E193K","NA",0.534483,232,0.0240964,83,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","plasma glutamate carboxypeptidase",null,null,"NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","POLR2A","chr17",7405316,7405316,"NM_000937","G","A","missense","SNM","NA","NA","NA","c.2447G>A","p.G816E","NA",0.2,140,0,82,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","RNA polymerase II subunit A","POLR2, POLRA, RPB1, RPBh1, RPO2, RPOL2, RpIILS, hRPB220, hsRPB1","This gene encodes the largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. The product of this gene contains a carboxy terminal domain composed of heptapeptide repeats that are essential for polymerase activity. These repeats contain serine and threonine residues that are phosphorylated in actively transcribing RNA polymerase. In addition, this subunit, in combination with several other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. [provided by RefSeq, Jul 2008]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","PPRC1","chr10",103900535,103900535,"NM_015062","G","T","missense","SNM","NA","NA","NA","c.2270G>T","p.R757L","NA",0.28169,71,0,47,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","peroxisome proliferator-activated receptor gamma, coactivator-related 1","PRC","The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respiratory factor 1 (NRF1). This protein has been shown to interact with NRF1. It is thought to be a functional relative of PPAR-gamma coactivator 1 that activates mitochondrial biogenesis through NRF1 in response to proliferative signals. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","RNF34","chr12",121858061,121858061,"NM_194271","C","T","missense","SNM","NA","NA","NA","c.653C>T","p.T218I","NA",0.346154,130,0,63,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ring finger protein 34","CARP-1, CARP1, RFI, RIF, RIFF, hRFI","The protein encoded by this gene contains a RINF finger, a motif known to be involved in protein-protein and protein-DNA interactions. This protein interacts with DNAJA3/hTid-1, which is a DnaJ protein reported to function as a modulator of apoptosis. Overexpression of this gene in Hela cells was shown to confer the resistance to TNF-alpha induced apoptosis, suggesting an anti-apoptotic function of this protein. This protein can be cleaved by caspase-3 during the induction of apoptosis. This protein also targets p53 and phospho-p53 for degradation. Alternatively splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2012]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","SCUBE3","chr6",35210519,35210519,"NM_152753","T","G","missense","SNM","NA","NA","NA","c.1655T>G","p.L552R","NA",0.4,120,0,56,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","signal peptide, CUB domain and EGF like domain containing 3","CEGF3","This gene encodes a member of the signal peptide, complement subcomponents C1r/C1s, Uegf, bone morphogenetic protein-1 and epidermal growth factor-like domain containing protein family. Overexpression of this gene in human embryonic kidney cells results in secretion of a glycosylated form of the protein that forms oligomers and tethers to the cell surface. This gene is upregulated in lung cancer tumor tissue compared to healthy tissue and is associated with loss of the epithelial marker E-cadherin and with increased expression of vimentin, a mesenchymal marker. In addition, the protein encoded by this gene is a transforming growth factor beta receptor ligand, and when secreted by cancer cells, it can be cleaved in vitro to release the N-terminal epidermal growth factor-like repeat domain and the C-terminal complement subcomponents C1r/C1s domain. Both the full length protein and C-terminal fragment can bind to the transforming growth factor beta type II receptor to promote the epithelial-mesenchymal transition and tumor angiogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","STK11","chr19",1207078,1207078,"NM_000455","G","T","missense","SNM","NA","NA","NA","c.166G>T","p.G56W","NA",0.595041,121,0.0169492,59,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","Sanger","NA","NA","NA","NA","serine/threonine kinase 11","LKB1, PJS, hLKB1","This gene, which encodes a member of the serine/threonine kinase family, regulates cell polarity and functions as a tumor suppressor. Mutations in this gene have been associated with Peutz-Jeghers syndrome, an autosomal dominant disorder characterized by the growth of polyps in the gastrointestinal tract, pigmented macules on the skin and mouth, and other neoplasms. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. [provided by RefSeq, Jul 2008]","NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","TCFL5","chr20",61488888,61488888,"NM_006602","C","G","missense","SNM","NA","NA","NA","c.1097G>C","p.G366A","NA",0.373563,173,0,89,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","transcription factor like 5","CHA, E2BP-1, Figlb, SOSF1, bHLHe82",null,"NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","UBE2Q2","chr15",76183260,76183260,"NM_173469","G","T","missense","SNM","NA","NA","NA","c.934G>T","p.G312C","NA",0.413793,145,0.015625,64,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin conjugating enzyme E2 Q2",null,null,"NA"]
["S02336","LCNEC","NA","LCNEC","yes","NA","NA","NA","USP20","chr9",132637647,132637647,"NM_001110303","C","T","missense","SNM","NA","NA","NA","c.2107C>T","p.R703W","NA",0.261682,107,0,49,"NA","NA","NA","NA","NA","NA","NA","NA","Somatic","RNAseq","NA","NA","NA","NA","ubiquitin specific peptidase 20","LSFR3A, VDU2, hVDU2","This gene encodes a ubiquitin specific processing protease that was first identified as a substrate of the VHL (von Hippel-Lindau disease) protein E3 ubiquitin ligase complex. In addition to being ubiquitinated by the VHL-E3 ligase complex, this enzyme deubiquitinates hypoxia-inducible factor (HIF)-1 alpha and thereby causes increased expression of HIF-1alpha targeted genes which play a role in angiogenesis, glucose metabolism, cell proliferation and metastasis. The enzyme encoded by this gene also regulates G-protein coupled receptor signaling by mediating the deubiquitination of beta-2 adrenergic receptor (ADRB2). This enzyme is a ubiquitously expressed thiolester hydrolase. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jan 2013]","NA"]