1#version 2.4 2## 3## fileformat=VCFv4.2 4## Biotin(Bgnd)=Biotin(Bgnd)|Staining|508|179 5## Biotin(High)=Biotin(High)|Staining|778|5902 6## DNP(Bgnd)=DNP(Bgnd)|Staining|1058|245 7## DNP(High)=DNP(High)|Staining|32198|156 8## Extension(A)=Extension(A)|Extension|41089|480 9## Extension(C)=Extension(C)|Extension|2446|11515 10## Extension(G)=Extension(G)|Extension|2936|11197 11## Extension(T)=Extension(T)|Extension|43350|395 12## FILTER=<ID=DUPE,Description="Duplicate assays position."> 13## FILTER=<ID=FAIL_REF,Description="Assay failed to map to reference."> 14## FILTER=<ID=TRIALLELIC,Description="Tri-allelic assay."> 15## FILTER=<ID=ZCALL_DIFF,Description="ZCALL_DIFF"> 16## FORMAT=<ID=BAF,Number=1,Type=Float,Description="B Allele Frequency"> 17## FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> 18## FORMAT=<ID=GTA,Number=1,Type=String,Description="Illumina Autocall Genotype"> 19## FORMAT=<ID=GTZ,Number=1,Type=String,Description="zCall Genotype"> 20## FORMAT=<ID=IGC,Number=1,Type=Float,Description="Illumina GenCall Confidence Score"> 21## FORMAT=<ID=LRR,Number=1,Type=Float,Description="Log R Ratio"> 22## FORMAT=<ID=NORMX,Number=1,Type=Float,Description="Normalized X intensity"> 23## FORMAT=<ID=NORMY,Number=1,Type=Float,Description="Normalized Y intensity"> 24## FORMAT=<ID=R,Number=1,Type=Float,Description="Normalized R value"> 25## FORMAT=<ID=THETA,Number=1,Type=Float,Description="Normalized Theta value"> 26## FORMAT=<ID=X,Number=1,Type=Integer,Description="Raw X intensity"> 27## FORMAT=<ID=Y,Number=1,Type=Integer,Description="Raw Y intensity"> 28## Funcotator Version=0.0.4 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic v84 | CosmicFusion v84 | CosmicTissue v83 | DNARepairGenes 20180524T145835 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Oreganno 20160119 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 29## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator --output FUNCOTATOR_OUT.vcf --ref-version hg19 --data-sources-path /Users/jonn/Development/funcotator_dataSources_latest --output-file-format VCF --variant /Users/jonn/Development/NON_PUBLIC/0816201804HC0_R01C01.vcf --reference /Users/jonn/Development/references/Homo_sapiens_assembly19.fasta --verbosity DEBUG --remove-filtered-variants false --transcript-selection-mode CANONICAL --lookahead-cache-bp 100000 --force-b37-to-hg19-reference-contig-conversion false --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays --disable-tool-default-read-filters false",Version=4.0.10.1-17-g2de000f-SNAPSHOT-0.0.4,Date="October 19, 2018 2:12:35 PM EDT"> 30## Hyb(High)=Hyb(High)|Hybridization|3310|11184 31## Hyb(Low)=Hyb(Low)|Hybridization|3436|1823 32## Hyb(Medium)=Hyb(Medium)|Hybridization|1307|6426 33## INFO=<ID=AC,Number=A,Type=Integer,Description="Allele count in genotypes, for each ALT allele, in the same order as listed"> 34## INFO=<ID=AF,Number=A,Type=Float,Description="Allele Frequency, for each ALT allele, in the same order as listed"> 35## INFO=<ID=ALLELE_A,Number=1,Type=String,Description="A allele"> 36## INFO=<ID=ALLELE_B,Number=1,Type=String,Description="B allele"> 37## INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> 38## INFO=<ID=BEADSET_ID,Number=1,Type=Integer,Description="Bead set ID for normalization"> 39## INFO=<ID=FUNCOTATION,Number=A,Type=String,Description="Functional annotation from the Funcotator tool. Funcotation fields are: Gencode_19_hugoSymbol|Gencode_19_ncbiBuild|Gencode_19_chromosome|Gencode_19_start|Gencode_19_end|Gencode_19_variantClassification|Gencode_19_secondaryVariantClassification|Gencode_19_variantType|Gencode_19_refAllele|Gencode_19_tumorSeqAllele1|Gencode_19_tumorSeqAllele2|Gencode_19_genomeChange|Gencode_19_annotationTranscript|Gencode_19_transcriptStrand|Gencode_19_transcriptExon|Gencode_19_transcriptPos|Gencode_19_cDnaChange|Gencode_19_codonChange|Gencode_19_proteinChange|Gencode_19_gcContent|Gencode_19_referenceContext|Gencode_19_otherTranscripts|Achilles_Top_Genes|CGC_Name|CGC_GeneID|CGC_Chr|CGC_Chr_Band|CGC_Cancer_Somatic_Mut|CGC_Cancer_Germline_Mut|CGC_Tumour_Types__(Somatic_Mutations)|CGC_Tumour_Types_(Germline_Mutations)|CGC_Cancer_Syndrome|CGC_Tissue_Type|CGC_Cancer_Molecular_Genetics|CGC_Mutation_Type|CGC_Translocation_Partner|CGC_Other_Germline_Mut|CGC_Other_Syndrome/Disease|ClinVar_HGMD_ID|ClinVar_SYM|ClinVar_TYPE|ClinVar_ASSEMBLY|ClinVar_rs|Cosmic_overlapping_mutations|CosmicFusion_fusion_genes|CosmicFusion_fusion_id|CosmicTissue_total_alterations_in_gene|CosmicTissue_tissue_types_affected|DNARepairGenes_Activity_linked_to_OMIM|DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView|DNARepairGenes_Accession_number_linked_to_NCBI_Entrez|Familial_Cancer_Genes_Syndrome|Familial_Cancer_Genes_Synonym|Familial_Cancer_Genes_Reference|Gencode_XHGNC_hgnc_id|Gencode_XRefSeq_mRNA_id|Gencode_XRefSeq_prot_acc|HGNC_HGNC_ID|HGNC_Approved_Name|HGNC_Status|HGNC_Locus_Type|HGNC_Locus_Group|HGNC_Previous_Symbols|HGNC_Previous_Name|HGNC_Synonyms|HGNC_Name_Synonyms|HGNC_Chromosome|HGNC_Date_Modified|HGNC_Date_Symbol_Changed|HGNC_Date_Name_Changed|HGNC_Accession_Numbers|HGNC_Enzyme_IDs|HGNC_Entrez_Gene_ID|HGNC_Ensembl_Gene_ID|HGNC_Pubmed_IDs|HGNC_RefSeq_IDs|HGNC_Gene_Family_ID|HGNC_Gene_Family_Name|HGNC_CCDS_IDs|HGNC_Vega_ID|HGNC_Entrez_Gene_ID(supplied_by_NCBI)|HGNC_OMIM_ID(supplied_by_OMIM)|HGNC_RefSeq(supplied_by_NCBI)|HGNC_UniProt_ID(supplied_by_UniProt)|HGNC_Ensembl_ID(supplied_by_Ensembl)|HGNC_UCSC_ID(supplied_by_UCSC)|Oreganno_Build|Oreganno_ID|Oreganno_Values|Simple_Uniprot_uniprot_entry_name|Simple_Uniprot_DrugBank|Simple_Uniprot_alt_uniprot_accessions|Simple_Uniprot_uniprot_accession|Simple_Uniprot_GO_Biological_Process|Simple_Uniprot_GO_Cellular_Component|Simple_Uniprot_GO_Molecular_Function|dbSNP_ASP|dbSNP_ASS|dbSNP_CAF|dbSNP_CDA|dbSNP_CFL|dbSNP_COMMON|dbSNP_DSS|dbSNP_G5|dbSNP_G5A|dbSNP_GENEINFO|dbSNP_GNO|dbSNP_HD|dbSNP_INT|dbSNP_KGPhase1|dbSNP_KGPhase3|dbSNP_LSD|dbSNP_MTP|dbSNP_MUT|dbSNP_NOC|dbSNP_NOV|dbSNP_NSF|dbSNP_NSM|dbSNP_NSN|dbSNP_OM|dbSNP_OTH|dbSNP_PM|dbSNP_PMC|dbSNP_R3|dbSNP_R5|dbSNP_REF|dbSNP_RS|dbSNP_RSPOS|dbSNP_RV|dbSNP_S3D|dbSNP_SAO|dbSNP_SLO|dbSNP_SSR|dbSNP_SYN|dbSNP_TOPMED|dbSNP_TPA|dbSNP_U3|dbSNP_U5|dbSNP_VC|dbSNP_VLD|dbSNP_VP|dbSNP_WGT|dbSNP_WTD|dbSNP_dbSNPBuildID"> 40## INFO=<ID=GC_SCORE,Number=1,Type=Float,Description="Gentrain Score"> 41## INFO=<ID=ILLUMINA_BUILD,Number=1,Type=String,Description="Genome Build in Illumina manifest"> 42## INFO=<ID=ILLUMINA_CHR,Number=1,Type=String,Description="Chromosome in Illumina manifest"> 43## INFO=<ID=ILLUMINA_POS,Number=1,Type=Integer,Description="Position in Illumina manifest"> 44## INFO=<ID=ILLUMINA_STRAND,Number=1,Type=String,Description="Probe strand"> 45## INFO=<ID=N_AA,Number=1,Type=Integer,Description="Number of AA calls in training set"> 46## INFO=<ID=N_AB,Number=1,Type=Integer,Description="Number of AB calls in training set"> 47## INFO=<ID=N_BB,Number=1,Type=Integer,Description="Number of BB calls in training set"> 48## INFO=<ID=PROBE_A,Number=1,Type=String,Description="Probe base pair sequence"> 49## INFO=<ID=PROBE_B,Number=1,Type=String,Description="Probe base pair sequence; not missing for strand-ambiguous SNPs"> 50## INFO=<ID=SOURCE,Number=1,Type=String,Description="Probe source"> 51## INFO=<ID=devR_AA,Number=1,Type=Float,Description="Standard deviation of normalized R for AA cluster"> 52## INFO=<ID=devR_AB,Number=1,Type=Float,Description="Standard deviation of normalized R for AB cluster"> 53## INFO=<ID=devR_BB,Number=1,Type=Float,Description="Standard deviation of normalized R for BB cluster"> 54## INFO=<ID=devTHETA_AA,Number=1,Type=Float,Description="Standard deviation of normalized THETA for AA cluster"> 55## INFO=<ID=devTHETA_AB,Number=1,Type=Float,Description="Standard deviation of normalized THETA for AB cluster"> 56## INFO=<ID=devTHETA_BB,Number=1,Type=Float,Description="Standard deviation of normalized THETA for BB cluster"> 57## INFO=<ID=devX_AA,Number=1,Type=Float,Description="Standard deviation of normalized X for AA cluster"> 58## INFO=<ID=devX_AB,Number=1,Type=Float,Description="Standard deviation of normalized X for AB cluster"> 59## INFO=<ID=devX_BB,Number=1,Type=Float,Description="Standard deviation of normalized X for BB cluster"> 60## INFO=<ID=devY_AA,Number=1,Type=Float,Description="Standard deviation of normalized Y for AA cluster"> 61## INFO=<ID=devY_AB,Number=1,Type=Float,Description="Standard deviation of normalized Y for AB cluster"> 62## INFO=<ID=devY_BB,Number=1,Type=Float,Description="Standard deviation of normalized Y for BB cluster"> 63## INFO=<ID=meanR_AA,Number=1,Type=Float,Description="Mean of normalized R for AA cluster"> 64## INFO=<ID=meanR_AB,Number=1,Type=Float,Description="Mean of normalized R for AB cluster"> 65## INFO=<ID=meanR_BB,Number=1,Type=Float,Description="Mean of normalized R for BB cluster"> 66## INFO=<ID=meanTHETA_AA,Number=1,Type=Float,Description="Mean of normalized THETA for AA cluster"> 67## INFO=<ID=meanTHETA_AB,Number=1,Type=Float,Description="Mean of normalized THETA for AB cluster"> 68## INFO=<ID=meanTHETA_BB,Number=1,Type=Float,Description="Mean of normalized THETA for BB cluster"> 69## INFO=<ID=meanX_AA,Number=1,Type=Float,Description="Mean of normalized X for AA cluster"> 70## INFO=<ID=meanX_AB,Number=1,Type=Float,Description="Mean of normalized X for AB cluster"> 71## INFO=<ID=meanX_BB,Number=1,Type=Float,Description="Mean of normalized X for BB cluster"> 72## INFO=<ID=meanY_AA,Number=1,Type=Float,Description="Mean of normalized Y for AA cluster"> 73## INFO=<ID=meanY_AB,Number=1,Type=Float,Description="Mean of normalized Y for AB cluster"> 74## INFO=<ID=meanY_BB,Number=1,Type=Float,Description="Mean of normalized Y for BB cluster"> 75## INFO=<ID=refSNP,Number=1,Type=String,Description="dbSNP rs ID"> 76## INFO=<ID=zthresh_X,Number=1,Type=Float,Description="zCall X threshold"> 77## INFO=<ID=zthresh_Y,Number=1,Type=Float,Description="zCall Y threshold"> 78## NP(A)=NP(A)|Non-Polymorphic|17148|391 79## NP(C)=NP(C)|Non-Polymorphic|1093|6000 80## NP(G)=NP(G)|Non-Polymorphic|1286|5170 81## NP(T)=NP(T)|Non-Polymorphic|15772|304 82## NSB(Bgnd)Blue=NSB(Bgnd)Blue|Non-SpecificBinding|922|301 83## NSB(Bgnd)Green=NSB(Bgnd)Green|Non-SpecificBinding|842|238 84## NSB(Bgnd)Purple=NSB(Bgnd)Purple|Non-SpecificBinding|912|204 85## NSB(Bgnd)Red=NSB(Bgnd)Red|Non-SpecificBinding|1016|295 86## Restore=Restore|Restoration|961|374 87## String(MM)=String(MM)|Stringency|4768|259 88## String(PM)=String(PM)|Stringency|29830|468 89## TargetRemoval=TargetRemoval|TargetRemoval|2492|281 90## analysisVersionNumber=1 91## arrayType=PsychChip_v1-1_15073391_A1 92## autocallDate=08/17/2017 00:40 93## autocallGender=F 94## autocallVersion=2.0.0.137 95## chipWellBarcode=0816201804HC0_R01C01 96## clusterFile=PsychChip_v1-1_15073391_A1_ClusterFile.egt 97## content=PsychChip_v1-1_15073391_A1.1.2.extended.csv 98## expectedGender=Female 99## extendedIlluminaManifestVersion=1.2 100## extendedManifestFile=PsychChip_v1-1_15073391_A1.1.2.extended.csv 101## fileDate=Thu Aug 17 00:44:56 UTC 2017 102## fingerprintGender=Unknown 103## genomeBuild=HG19 104## imagingDate=8/14/2015 7:27:49 PM 105## manifestFile=PsychChip_v1-1_15073391_A1.csv 106## p95Green=7373 107## p95Red=22526 108## picardVersion=1.1222-SNAPSHOT 109## reference=/cromwell_root/broad-references/hg19/v0/Homo_sapiens_assembly19.fasta 110## sampleAlias=NA12878 111## scannerName=N0700 112## source=BPM file 113## source=Funcotator 114## zcallThresholds=thresholds.7.txt 115## zcallVersion=1.0.0.0 116## contig=<ID=1,length=249250621,assembly=GRCh37> 117## contig=<ID=2,length=243199373,assembly=GRCh37> 118## contig=<ID=3,length=198022430,assembly=GRCh37> 119## contig=<ID=4,length=191154276,assembly=GRCh37> 120## contig=<ID=5,length=180915260,assembly=GRCh37> 121## contig=<ID=6,length=171115067,assembly=GRCh37> 122## contig=<ID=7,length=159138663,assembly=GRCh37> 123## contig=<ID=8,length=146364022,assembly=GRCh37> 124## contig=<ID=9,length=141213431,assembly=GRCh37> 125## contig=<ID=10,length=135534747,assembly=GRCh37> 126## contig=<ID=11,length=135006516,assembly=GRCh37> 127## contig=<ID=12,length=133851895,assembly=GRCh37> 128## contig=<ID=13,length=115169878,assembly=GRCh37> 129## contig=<ID=14,length=107349540,assembly=GRCh37> 130## contig=<ID=15,length=102531392,assembly=GRCh37> 131## contig=<ID=16,length=90354753,assembly=GRCh37> 132## contig=<ID=17,length=81195210,assembly=GRCh37> 133## contig=<ID=18,length=78077248,assembly=GRCh37> 134## contig=<ID=19,length=59128983,assembly=GRCh37> 135## contig=<ID=20,length=63025520,assembly=GRCh37> 136## contig=<ID=21,length=48129895,assembly=GRCh37> 137## contig=<ID=22,length=51304566,assembly=GRCh37> 138## contig=<ID=X,length=155270560,assembly=GRCh37> 139## contig=<ID=Y,length=59373566,assembly=GRCh37> 140## contig=<ID=MT,length=16569,assembly=GRCh37> 141## contig=<ID=GL000207.1,length=4262,assembly=GRCh37> 142## contig=<ID=GL000226.1,length=15008,assembly=GRCh37> 143## contig=<ID=GL000229.1,length=19913,assembly=GRCh37> 144## contig=<ID=GL000231.1,length=27386,assembly=GRCh37> 145## contig=<ID=GL000210.1,length=27682,assembly=GRCh37> 146## contig=<ID=GL000239.1,length=33824,assembly=GRCh37> 147## contig=<ID=GL000235.1,length=34474,assembly=GRCh37> 148## contig=<ID=GL000201.1,length=36148,assembly=GRCh37> 149## contig=<ID=GL000247.1,length=36422,assembly=GRCh37> 150## contig=<ID=GL000245.1,length=36651,assembly=GRCh37> 151## contig=<ID=GL000197.1,length=37175,assembly=GRCh37> 152## contig=<ID=GL000203.1,length=37498,assembly=GRCh37> 153## contig=<ID=GL000246.1,length=38154,assembly=GRCh37> 154## contig=<ID=GL000249.1,length=38502,assembly=GRCh37> 155## contig=<ID=GL000196.1,length=38914,assembly=GRCh37> 156## contig=<ID=GL000248.1,length=39786,assembly=GRCh37> 157## contig=<ID=GL000244.1,length=39929,assembly=GRCh37> 158## contig=<ID=GL000238.1,length=39939,assembly=GRCh37> 159## contig=<ID=GL000202.1,length=40103,assembly=GRCh37> 160## contig=<ID=GL000234.1,length=40531,assembly=GRCh37> 161## contig=<ID=GL000232.1,length=40652,assembly=GRCh37> 162## contig=<ID=GL000206.1,length=41001,assembly=GRCh37> 163## contig=<ID=GL000240.1,length=41933,assembly=GRCh37> 164## contig=<ID=GL000236.1,length=41934,assembly=GRCh37> 165## contig=<ID=GL000241.1,length=42152,assembly=GRCh37> 166## contig=<ID=GL000243.1,length=43341,assembly=GRCh37> 167## contig=<ID=GL000242.1,length=43523,assembly=GRCh37> 168## contig=<ID=GL000230.1,length=43691,assembly=GRCh37> 169## contig=<ID=GL000237.1,length=45867,assembly=GRCh37> 170## contig=<ID=GL000233.1,length=45941,assembly=GRCh37> 171## contig=<ID=GL000204.1,length=81310,assembly=GRCh37> 172## contig=<ID=GL000198.1,length=90085,assembly=GRCh37> 173## contig=<ID=GL000208.1,length=92689,assembly=GRCh37> 174## contig=<ID=GL000191.1,length=106433,assembly=GRCh37> 175## contig=<ID=GL000227.1,length=128374,assembly=GRCh37> 176## contig=<ID=GL000228.1,length=129120,assembly=GRCh37> 177## contig=<ID=GL000214.1,length=137718,assembly=GRCh37> 178## contig=<ID=GL000221.1,length=155397,assembly=GRCh37> 179## contig=<ID=GL000209.1,length=159169,assembly=GRCh37> 180## contig=<ID=GL000218.1,length=161147,assembly=GRCh37> 181## contig=<ID=GL000220.1,length=161802,assembly=GRCh37> 182## contig=<ID=GL000213.1,length=164239,assembly=GRCh37> 183## contig=<ID=GL000211.1,length=166566,assembly=GRCh37> 184## contig=<ID=GL000199.1,length=169874,assembly=GRCh37> 185## contig=<ID=GL000217.1,length=172149,assembly=GRCh37> 186## contig=<ID=GL000216.1,length=172294,assembly=GRCh37> 187## contig=<ID=GL000215.1,length=172545,assembly=GRCh37> 188## contig=<ID=GL000205.1,length=174588,assembly=GRCh37> 189## contig=<ID=GL000219.1,length=179198,assembly=GRCh37> 190## contig=<ID=GL000224.1,length=179693,assembly=GRCh37> 191## contig=<ID=GL000223.1,length=180455,assembly=GRCh37> 192## contig=<ID=GL000195.1,length=182896,assembly=GRCh37> 193## contig=<ID=GL000212.1,length=186858,assembly=GRCh37> 194## contig=<ID=GL000222.1,length=186861,assembly=GRCh37> 195## contig=<ID=GL000200.1,length=187035,assembly=GRCh37> 196## contig=<ID=GL000193.1,length=189789,assembly=GRCh37> 197## contig=<ID=GL000194.1,length=191469,assembly=GRCh37> 198## contig=<ID=GL000225.1,length=211173,assembly=GRCh37> 199## contig=<ID=GL000192.1,length=547496,assembly=GRCh37> 200## contig=<ID=NC_007605,length=171823,assembly=NC_007605.1> 201## GATKCommandLine=<ID=Funcotator,CommandLine="Funcotator --output /var/folders/q3/hw5cxmn52wq347lg7rb_mzlw0000gq/T/regressionTestHg19Large.vcf.funcotator7142925754963260288.maf --ref-version hg19 --data-sources-path /Users/louisb/Workspace/gatk_java11/src/test/resources/large/funcotator/funcotator_dataSources/ --output-file-format MAF --variant /Users/louisb/Workspace/gatk_java11/src/test/resources/org/broadinstitute/hellbender/tools/funcotator/validationTestData/regressionTestHg19Large.vcf --reference /Users/louisb/Workspace/gatk_java11/src/test/resources/large/Homo_sapiens_assembly19.fasta.gz --verbosity INFO --remove-filtered-variants false --five-prime-flank-size 5000 --three-prime-flank-size 0 --force-b37-to-hg19-reference-contig-conversion false --transcript-selection-mode CANONICAL --lookahead-cache-bp 100000 --interval-set-rule UNION --interval-padding 0 --interval-exclusion-padding 0 --interval-merging-rule ALL --read-validation-stringency SILENT --seconds-between-progress-updates 10.0 --disable-sequence-dictionary-validation false --create-output-bam-index true --create-output-bam-md5 false --create-output-variant-index true --create-output-variant-md5 false --lenient false --add-output-sam-program-record true --add-output-vcf-command-line true --cloud-prefetch-buffer 40 --cloud-index-prefetch-buffer -1 --disable-bam-index-caching false --sites-only-vcf-output false --help false --version false --showHidden false --QUIET false --use-jdk-deflater false --use-jdk-inflater false --gcs-max-retries 20 --gcs-project-for-requester-pays --disable-tool-default-read-filters false",Version="Unavailable",Date="September 24, 2019 at 9:58:32 AM EDT"> 202## source=Funcotator 203## Funcotator Unavailable | Date 20195824T095832 | Gencode 19 CANONICAL | Achilles 110303 | CGC full_2012_03-15 | ClinVar 12.03.20 | Cosmic 83 | CosmicFusion v83 | CosmicTissue v83 | DNARepairGenes 20171217T214737 | Familial_Cancer_Genes 20110905 | Gencode_XHGNC 75_37 | Gencode_XRefSeq 75_37 | HGNC Nov302017 | Simple_Uniprot 2014_12 | dbSNP 9606_b150 204Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Activity_linked_to_OMIM FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values tumor_f t_alt_count t_ref_count n_alt_count n_ref_count Gencode_19_secondaryVariantClassification Achilles_Top_Genes CGC_Name CGC_GeneID CGC_Chr CGC_Chr_Band CGC_Cancer_Somatic_Mut CGC_Cancer_Germline_Mut CGC_Cancer_Syndrome CGC_Tissue_Type CGC_Cancer_Molecular_Genetics CGC_Other_Germline_Mut ClinVar_HGMD_ID ClinVar_SYM ClinVar_TYPE ClinVar_ASSEMBLY ClinVar_rs CosmicFusion_fusion_id DNARepairGenes_Chromosome_location_linked_to_NCBI_MapView DNARepairGenes_Accession_number_linked_to_NCBI_Entrez Familial_Cancer_Genes_Synonym Familial_Cancer_Genes_Reference Gencode_XHGNC_hgnc_id HGNC_HGNC_ID HGNC_Status HGNC_Locus_Type HGNC_Locus_Group HGNC_Previous_Symbols HGNC_Previous_Name HGNC_Synonyms HGNC_Name_Synonyms HGNC_Chromosome HGNC_Date_Modified HGNC_Date_Symbol_Changed HGNC_Date_Name_Changed HGNC_Accession_Numbers HGNC_Enzyme_IDs HGNC_Ensembl_Gene_ID HGNC_Pubmed_IDs HGNC_RefSeq_IDs HGNC_Gene_Family_ID HGNC_Gene_Family_Name HGNC_CCDS_IDs HGNC_Vega_ID HGNC_OMIM_ID(supplied_by_OMIM) HGNC_RefSeq(supplied_by_NCBI) HGNC_UniProt_ID(supplied_by_UniProt) HGNC_Ensembl_ID(supplied_by_Ensembl) HGNC_UCSC_ID(supplied_by_UCSC) Simple_Uniprot_alt_uniprot_accessions dbSNP_AC dbSNP_AF dbSNP_AN dbSNP_ASP dbSNP_ASS dbSNP_CAF dbSNP_CDA dbSNP_CFL dbSNP_COMMON dbSNP_DP dbSNP_DSS dbSNP_G5 dbSNP_G5A dbSNP_GENEINFO dbSNP_GNO dbSNP_HD dbSNP_INT dbSNP_KGPhase1 dbSNP_KGPhase3 dbSNP_LSD dbSNP_MTP dbSNP_MUT dbSNP_NOC dbSNP_NOV dbSNP_NSF dbSNP_NSM dbSNP_NSN dbSNP_OM dbSNP_OTH dbSNP_PM dbSNP_PMC dbSNP_R3 dbSNP_R5 dbSNP_REF dbSNP_RV dbSNP_S3D dbSNP_SAO dbSNP_SLO dbSNP_SSR dbSNP_SYN dbSNP_TOPMED dbSNP_TPA dbSNP_U3 dbSNP_U5 dbSNP_VC dbSNP_VP dbSNP_WGT dbSNP_WTD dbSNP_dbSNPBuildID dbSNP_ID dbSNP_FILTER HGNC_Entrez_Gene_ID(supplied_by_NCBI) dbSNP_RSPOS dbSNP_VLD AC AF ALLELE_A ALLELE_B AN BEADSET_ID FUNCOTATION GC_SCORE ILLUMINA_BUILD ILLUMINA_CHR ILLUMINA_POS ILLUMINA_STRAND N_AA N_AB N_BB PROBE_A PROBE_B SOURCE devR_AA devR_AB devR_BB devTHETA_AA devTHETA_AB devTHETA_BB devX_AA devX_AB devX_BB devY_AA devY_AB devY_BB meanR_AA meanR_AB meanR_BB meanTHETA_AA meanTHETA_AB meanTHETA_BB meanX_AA meanX_AB meanX_BB meanY_AA meanY_AB meanY_BB refSNP zthresh_X zthresh_Y 205RP11-206L10.10 __UNKNOWN__ hg19 1 752566 752566 + RNA SNP G G A 3094315 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:752566G>A ENST00000435300.1 - c.e1-187C>T FAM87B_ENST00000326734.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGAGAAACGTTTGACAGAG 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2817,0.7183 false false 1 false true false FAM87B:400728 true true false true true false false false false false false false false false false true true false true false true false 0 true 0 false 0.351947,0.648053 false false false SNV 0x05012802000515053f000101 1 false 103 rs3094315 752566 true 206RP11-206L10.10 __UNKNOWN__ hg19 1 752721 752721 + RNA SNP A A G 3131972 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:752721A>G ENST00000435300.1 - c.e1-32T>C FAM87B_ENST00000326734.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAGGAAAAGGGAAGAATG 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3466,0.6534 false false 1 false true true FAM87B:400728 true true false true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.393296,0.606704 false false false SNV 0x05010002000517053f000100 1 false 103 rs3131972 752721 true 207LINC00115 79854 __UNKNOWN__ hg19 1 762320 762320 + RNA SNP C C T 75333668 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:762320C>T ENST00000473798.1 - c.e1-582G>A RP11-206L10.11_ENST00000445118.2_5'Flank long intergenic non-protein coding RNA 115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCAACAGTCACCGCTAGTG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:26211 Approved RNA, long non-coding non-coding RNA NCRNA00115 "non-protein coding RNA 115" FLJ22639 1p36.33 2014-11-18 2011-08-11 2011-08-11 BC017762 ENSG00000225880 12477932 XR_017693 OTTHUMG00000141258 NR_024321 ENSG00000225880 uc010nxx.3 true false 0.9305,0.06949 false false 1 false true false LINC01128:643837|LINC00115:79854 false true false true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x050100020005150436000100 1 false 131 rs75333668 79854 762320 true 208Unknown __UNKNOWN__ hg19 1 798959 798959 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:798959G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGCTTTAAGGTATGACTAG 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 209RP11-54O7.16 __UNKNOWN__ hg19 1 838555 838555 + 5'Flank SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:838555C>A ENST00000607769.1 + __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCCATTTCACCTTAATCG 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 210RP11-54O7.16 __UNKNOWN__ hg19 1 846808 846808 + RNA SNP C C T 4475691 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:846808C>T ENST00000607769.1 + c.e2-4322C>T RP11-54O7.2_ENST00000398216.2_5'Flank|RP11-54O7.1_ENST00000448179.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGAGCTGCGCCTTTGTGC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7452,0.2548 false false 1 false true true LOC284600:284600 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.725634,0.274366 false false false SNV 0x05010002000517053e000100 1 false 111 rs4475691 846808 true 211SAMD11 148398 __UNKNOWN__ hg19 1 861349 861349 + Missense_Mutation SNP C C T 200686669 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:861349C>T ENST00000342066.3 + 2 111 c.28C>T c.(28-30)Cct>Tct p.P10S AL645608.1_ENST00000598827.1_Missense_Mutation_p.G84E NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGTGCATCCTCCGATCTG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs200686669 148398 861349 true 212SAMD11 148398 __UNKNOWN__ hg19 1 861808 861808 + Intron SNP A A G 13302982 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:861808A>G ENST00000342066.3 + c.e2+415A>G AL645608.1_ENST00000598827.1_Intron NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGACGACAGCATTTTGGGGAG 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.3177,0.6823 false false 1 false true false SAMD11:148398 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.289649,0.710351 false false false SNV 0x05010008000515053f000100 1 false 121 rs13302982 148398 861808 true 213SAMD11 148398 __UNKNOWN__ hg19 1 865545 865545 + Missense_Mutation SNP G G A 201186828 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865545G>A ENST00000342066.3 + 3 166 c.83G>A c.(82-84)cGg>cAg p.R28Q AL645608.1_ENST00000598827.1_Intron NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCGGGGGCGGCTGGCAGAC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9972,0.002796 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997012,0.00298784 false false false SNV 0x050000000a05040436000100 1 false 137 rs201186828 148398 865545 true 214SAMD11 148398 __UNKNOWN__ hg19 1 865584 865584 + Missense_Mutation SNP G G A 148711625 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865584G>A ENST00000342066.3 + 3 205 c.122G>A c.(121-123)cGg>cAg p.R41Q AL645608.1_ENST00000598827.1_Missense_Mutation_p.P53L NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGCCGCCCGGAACCTGAAG 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.989,0.01098 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.986984,0.013016 false false false SNV 0x050100000a05140436000100 1 false 134 rs148711625 148398 865584 true 215SAMD11 148398 __UNKNOWN__ hg19 1 865625 865625 + Missense_Mutation SNP G G A 146327803 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865625G>A ENST00000342066.3 + 3 246 c.163G>A c.(163-165)Gat>Aat p.D55N AL645608.1_ENST00000598827.1_Silent_p.I39I NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTGCCAGCGATGGTGACAG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9986,0.001398 false false 1 false false false SAMD11:148398 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99763,0.00236967 false false false SNV 0x050000000a05040426000100 1 false 134 rs146327803 148398 865625 true 216SAMD11 148398 __UNKNOWN__ hg19 1 865628 865628 + Missense_Mutation SNP G G A 41285790 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865628G>A ENST00000342066.3 + 3 249 c.166G>A c.(166-168)Ggt>Agt p.G56S AL645608.1_ENST00000598827.1_Silent_p.T38T NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCAGCGATGGTGACAGCGA 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9972,0.002796 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.996909,0.00309087 false false false SNV 0x050100000a05040436000100 1 false 127 rs41285790 148398 865628 true 217SAMD11 148398 __UNKNOWN__ hg19 1 865662 865662 + Missense_Mutation SNP G G A 140751899 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865662G>A ENST00000342066.3 + 3 283 c.200G>A c.(199-201)cGg>cAg p.R67Q AL645608.1_ENST00000598827.1_Splice_Site NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGTGGGCGGCGGCCAGGC 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9992,0.0007987 false false 0 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997836,0.00216361 false false false SNV 0x050000000a05040436000100 1 false 134 rs140751899 148398 865662 true 218SAMD11 148398 __UNKNOWN__ hg19 1 865665 865665 + Missense_Mutation SNP G G A 145442390 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865665G>A ENST00000342066.3 + 3 286 c.203G>A c.(202-204)cGg>cAg p.R68Q AL645608.1_ENST00000598827.1_Splice_Site NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGGGCGGCGGCCAGGCTTG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999141,0.000858575 false false false SNV 0x050000000a05040402000100 1 false 134 rs145442390 148398 865665 true 219SAMD11 148398 __UNKNOWN__ hg19 1 865694 865694 + Missense_Mutation SNP C C T 9988179 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865694C>T ENST00000342066.3 + 3 315 c.232C>T c.(232-234)Cac>Tac p.H78Y AL645608.1_ENST00000598827.1_Missense_Mutation_p.C18Y NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATGGTCCGCACATCCGTAT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9475,0.05252 false false 1 false true false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.976441,0.0235593 false false false SNV 0x050100000a05150436000100 1 false 119 rs9988179 148398 865694 true 220SAMD11 148398 __UNKNOWN__ hg19 1 865700 865700 + Missense_Mutation SNP C C T 116730894 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:865700C>T ENST00000342066.3 + 3 321 c.238C>T c.(238-240)Cgt>Tgt p.R80C AL645608.1_ENST00000598827.1_Missense_Mutation_p.R16Q NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGCACATCCGTATCATGAA 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9988,0.001198 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.997802,0.00219795 false false false SNV 0x050100000a05040436000100 1 false 132 rs116730894 148398 865700 true 221SAMD11 148398 __UNKNOWN__ hg19 1 866429 866429 + Missense_Mutation SNP C C T 144317111 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:866429C>T ENST00000342066.3 + 4 348 c.265C>T c.(265-267)Cac>Tac p.H89Y AL645608.1_ENST00000598827.1_Nonsense_Mutation_p.W6* NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCCACACCCACTGGGACGT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999691,0.000309108 false false false SNV 0x050000000a05040402000100 1 false 134 rs144317111 148398 866429 true 222SAMD11 148398 __UNKNOWN__ hg19 1 866438 866438 + Missense_Mutation SNP G G A 144010167 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:866438G>A ENST00000342066.3 + 4 357 c.274G>A c.(274-276)Gtg>Atg p.V92M AL645608.1_ENST00000598827.1_Missense_Mutation_p.T3M NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTGGGACGTGAACATCTC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9998,0.0001997 false false 0 false false false SAMD11:148398 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240418 false false false SNV 0x050000000a05040426000100 1 false 134 rs144010167 148398 866438 true 223SAMD11 148398 __UNKNOWN__ hg19 1 871159 871159 + Missense_Mutation SNP G G A 143282473 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871159G>A ENST00000342066.3 + 5 396 c.313G>A c.(313-315)Ggc>Agc p.G105S AL645608.1_ENST00000598827.1_5'Flank|SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAGGACGGCAACCTTCC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9996,0.0003994 false false 0 false false false SAMD11:148398 false false false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999691,0.000309087 false false false SNV 0x050000000a05040036000100 1 false 134 rs143282473 148398 871159 true 224SAMD11 148398 __UNKNOWN__ hg19 1 871213 871213 + Missense_Mutation SNP C C G 144490434 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871213C>G ENST00000342066.3 + 5 450 c.367C>G c.(367-369)Ccc>Gcc p.P123A AL645608.1_ENST00000598827.1_5'Flank|SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCGTTATGCCCGAGCATCA 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs144490434 148398 871213 true 225SAMD11 148398 __UNKNOWN__ hg19 1 871228 871228 + Missense_Mutation SNP C C T 142210309 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871228C>T ENST00000342066.3 + 5 465 c.382C>T c.(382-384)Cgc>Tgc p.R128C AL645608.1_ENST00000598827.1_5'Flank|SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATCAGAGCCGCTGTGAATT 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs142210309 148398 871228 true 226SAMD11 148398 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S AL645608.1_ENST00000598827.1_5'Flank|SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 148398 871276 true 227SAMD11 148398 __UNKNOWN__ hg19 1 871276 871276 + Splice_Site SNP G G A 146347471 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:871276G>A ENST00000342066.3 + 5 513 c.430G>A c.(430-432)Ggt>Agt p.G144S AL645608.1_ENST00000598827.1_5'Flank|SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGACCCGCCGGTGAGGAGCA 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 134 rs146347471 148398 871276 true 228SAMD11 148398 __UNKNOWN__ hg19 1 874456 874456 + Missense_Mutation SNP G G A 149677938 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874456G>A ENST00000342066.3 + 6 550 c.467G>A c.(466-468)cGt>cAt p.R156H SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCCCCCCGTATCAGCAGC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.999,0.0009984,.,. false false 0 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998626,0.00127069,0.000103029,. false false false SNV 0x050000000a05040436000100 1 false 134 rs149677938 148398 874456 true 229SAMD11 148398 __UNKNOWN__ hg19 1 874501 874501 + Missense_Mutation SNP C C T 199625867 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874501C>T ENST00000342066.3 + 6 595 c.512C>T c.(511-513)tCg>tTg p.S171L SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAAGCGAATCGCCTCAAGGT 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999725,0.000274744 false false false SNV 0x050000000a05040402000100 1 false 137 rs199625867 148398 874501 true 230SAMD11 148398 __UNKNOWN__ hg19 1 874673 874673 + Missense_Mutation SNP G G A 112419559 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874673G>A ENST00000342066.3 + 7 622 c.539G>A c.(538-540)cGg>cAg p.R180Q SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTGCCGCGGGAGCTGGGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 true true false false false false false false false false false true false false false false false false false true false false 0 true 0 false 0.999554,0.000446459 false false false SNV 0x050100000a05040502000100 1 false 132 rs112419559 148398 874673 true 231SAMD11 148398 __UNKNOWN__ hg19 1 874714 874714 + Missense_Mutation SNP C C T 201596485 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874714C>T ENST00000342066.3 + 7 663 c.580C>T c.(580-582)Cgg>Tgg p.R194W SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATTACCGCCGGCTTGTGTC 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9992,0.0007987 false false 0 false false false SAMD11:148398 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040426000100 1 false 137 rs201596485 148398 874714 true 232SAMD11 148398 __UNKNOWN__ hg19 1 874762 874762 + Missense_Mutation SNP C C T 139437968 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:874762C>T ENST00000342066.3 + 7 711 c.628C>T c.(628-630)Cgc>Tgc p.R210C SAMD11_ENST00000478729.1_5'Flank NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGACCCTCAGCGCCTCTACCA 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9984,0.001597 false false 1 false false false SAMD11:148398 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040436000100 1 false 134 rs139437968 148398 874762 true 233SAMD11 148398 __UNKNOWN__ hg19 1 877556 877556 + Missense_Mutation SNP G G A 201313326 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:877556G>A ENST00000342066.3 + 9 993 c.910G>A c.(910-912)Gcc>Acc p.A304T NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCGCAGAATGCCCCTCACGT 0.7605985037406484 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true true false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000080a05040402000100 1 false 137 rs201313326 148398 877556 true 234SAMD11 148398 __UNKNOWN__ hg19 1 878250 878250 + Missense_Mutation SNP A A G 552457744 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:878250A>G ENST00000342066.3 + 11 1459 c.1376A>G c.(1375-1377)gAt>gGt p.D459G NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGCACAAGATGGCTCGGAA 0.7406483790523691 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9998,.,0.0001997 false false 0 false false false SAMD11:148398 false true true false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,.,6.8686e-005 false false false SNV 0x050000080a05040426000100 1 false 142 rs552457744 148398 878250 true 235SAMD11 148398 __UNKNOWN__ hg19 1 878423 878423 + Missense_Mutation SNP C C T 201075481 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:878423C>T ENST00000342066.3 + 11 1632 c.1549C>T c.(1549-1551)Ccc>Tcc p.P517S NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCGTCAGCCCCTACTTCCA 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9998,0.0001997 false false 0 false false false SAMD11:148398 false true true false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999588,0.000412116 false false false SNV 0x050000080a05040426000100 1 false 137 rs201075481 148398 878423 true 236SAMD11 148398 __UNKNOWN__ hg19 1 878697 878697 + Nonsense_Mutation SNP G G A 147226614 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:878697G>A ENST00000342066.3 + 12 1712 c.1629G>A c.(1627-1629)tgG>tgA p.W543* NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACCAAGTGGACCGTGGATG 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398 false true true false false false false false false false false false true false false false false false false true false true 0 false 0 false false false false SNV 0x050200080605040402000100 1 false 134 rs147226614 148398 878697 true 237SAMD11 148398 __UNKNOWN__ hg19 1 878744 878744 + Missense_Mutation SNP G G C 138897766 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:878744G>C ENST00000342066.3 + 12 1759 c.1676G>C c.(1675-1677)gGa>gCa p.G559A NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGGCTGTGGAGAGTACACT 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9968,0.003195 false false 1 false false false SAMD11:148398 false true true true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.998867,0.00113332 false false false SNV 0x050200080a05040436000100 1 false 134 rs138897766 148398 878744 true 238SAMD11 148398 __UNKNOWN__ hg19 1 879297 879297 + Missense_Mutation SNP C C T 140566193 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:879297C>T ENST00000342066.3 + 14 1893 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGCCAGGCGCCTGGGCCG 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398|NOC2L:26155 false true true false false false false false false false false true false false false false false true false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x0500000c0a05040402000100 1 false 134 rs140566193 148398 879297 true 239SAMD11 148398 __UNKNOWN__ hg19 1 879364 879364 + Missense_Mutation SNP G G A 201551514 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:879364G>A ENST00000342066.3 + 14 1960 c.1877G>A c.(1876-1878)cGg>cAg p.R626Q NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACCCTGCGGGCCCCGGAG 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9998,0.0001997 false false 0 false false false SAMD11:148398|NOC2L:26155 false true true true true false false false false false false true false false false false false true false true false false 0 false 0 true 0.999966,3.4343e-005 false false false SNV 0x0500000c0b05040436000100 1 false 137 rs201551514 148398 879364 true 240SAMD11 148398 __UNKNOWN__ hg19 1 879381 879381 + Missense_Mutation SNP C C T 116362966 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:879381C>T ENST00000342066.3 + 14 1977 c.1894C>T c.(1894-1896)Ctc>Ttc p.L632F NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGCGAGAACTCGGCACAGG 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9922,0.007788 false false 1 false false false SAMD11:148398|NOC2L:26155 false true true true true false false false false false false true false false false false false true false true false false 0 true 0 false 0.992685,0.00731506 false false false SNV 0x0501000c0a0504043e000100 1 false 132 rs116362966 148398 879381 true 241SAMD11 148398 __UNKNOWN__ hg19 1 879439 879439 + Missense_Mutation SNP G G A 150064100 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:879439G>A ENST00000342066.3 + 14 2035 c.1952G>A c.(1951-1953)gGc>gAc p.G651D NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGGAGGGGGCCACGCCCTT 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false false false false false false SAMD11:148398|NOC2L:26155 false true true true false false false false false false false true false false false false false true false true false false 0 false 0 true false false false SNV 0x0500000c0b05040416000100 1 false 134 rs150064100 148398 879439 true 242SAMD11 148398 __UNKNOWN__ hg19 1 879481 879481 + Missense_Mutation SNP G G C 113383096 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:879481G>C ENST00000342066.3 + 14 2077 c.1994G>C c.(1993-1995)gGg>gCg p.G665A NM_152486.2 NP_689699.2 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGAGAATGGGACCTTGGCT 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JX093091 HGNC:28706 Approved gene with protein product protein-coding gene MGC45873 1p36.33 2014-11-19 BC024295 ENSG00000187634 12477932 NM_152486 760 Sterile alpha motif domain containing CCDS2 OTTHUMG00000040719 616765 NM_152486 Q96NU1 ENSG00000187634 uc001abw.2 A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59 true false 0.9802,0.01977 false false 1 false true false SAMD11:148398|NOC2L:26155 true true true true true false false false false false false true false false false false false true false true false false 0 true 0 false 0.966619,0.0333814 false false false SNV 0x0501000c0a05150536000100 1 false 132 rs113383096 148398 879481 true 243NOC2L 26155 __UNKNOWN__ hg19 1 880160 880160 + Missense_Mutation SNP C C T 200633429 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880160C>T ENST00000327044.6 - 19 2214 c.2164G>A c.(2164-2166)Gcg>Acg p.A722T NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAGCCCCGCCTCTGCGTCT 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false SAMD11:148398|NOC2L:26155 false true false false false false false false false false false true false false false false false true false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000040a05040402000100 1 false 137 rs200633429 26155 880160 true 244NOC2L 26155 __UNKNOWN__ hg19 1 880167 880167 + Silent SNP G G A 201894720 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880167G>A ENST00000327044.6 - 19 2207 c.2157C>T c.(2155-2157)gaC>gaT p.D719D NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGCCTCTGCGTCTGGGTCTC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false SAMD11:148398|NOC2L:26155 false true false false false false false false false false false false false false false false false true false true false false 0 false 0 true false false false SNV 0x050000040305040402000100 1 false 137 rs201894720 26155 880167 true 245NOC2L 26155 __UNKNOWN__ hg19 1 880466 880466 + Missense_Mutation SNP T T C 138652036 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880466T>C ENST00000327044.6 - 18 2164 c.2114A>G c.(2113-2115)gAg>gGg p.E705G NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCTCGCCCTCCTCCTCGTC 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9954,0.004593 false false 1 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999897,0.000103029 false false false SNV 0x050000000a05040426000100 1 false 134 rs138652036 26155 880466 true 246NOC2L 26155 __UNKNOWN__ hg19 1 880502 880502 + Missense_Mutation SNP C C T 74047418 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880502C>T ENST00000327044.6 - 18 2128 c.2078G>A c.(2077-2079)cGg>cAg p.R693Q NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCCCATGCCGAGTGCTCAG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999038,0.000961605 false false false SNV 0x050100000a05040536000100 1 false 130 rs74047418 26155 880502 true 247NOC2L 26155 __UNKNOWN__ hg19 1 880922 880922 + Missense_Mutation SNP C C T 187444884 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880922C>T ENST00000327044.6 - 17 2079 c.2029G>A c.(2029-2031)Gac>Aac p.D677N NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTCGGTGTCGTCCTCTTCA 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9998,.,.,0.0001997 false false 0 false false false NOC2L:26155 false true false true true false false false false true false true false false false false false false false true false false 0 false 0 false 0.999897,.,.,0.000103029 false false false SNV 0x050000000a05040436000104 1 false 135 rs187444884 26155 880922 true 248NOC2L 26155 __UNKNOWN__ hg19 1 880942 880942 + Missense_Mutation SNP A A G 112163984 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880942A>G ENST00000327044.6 - 17 2059 c.2009T>C c.(2008-2010)cTg>cCg p.L670P NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGCTGTTCAGGTCAAAGAG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9986,0.001398 false false 1 false false false NOC2L:26155 true true false false true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999416,0.000583831 false false false SNV 0x050100000a05040526000100 1 false 132 rs112163984 26155 880942 true 249NOC2L 26155 __UNKNOWN__ hg19 1 880943 880943 + Silent SNP G G A 113650656 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:880943G>A ENST00000327044.6 - 17 2058 c.2008C>T c.(2008-2010)Ctg>Ttg p.L670L NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTGTTCAGGTCAAAGAGG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9988,0.001198,. false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 true 0.998489,0.00144241,6.8686e-005 false false false SNV 0x050100000b05040536000100 1 false 132 rs113650656 26155 880943 true 250NOC2L 26155 __UNKNOWN__ hg19 1 881554 881554 + Splice_Site SNP C C T 147322750 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881554C>T ENST00000327044.6 - 16 1966 c.1916G>A c.(1915-1917)cGg>cAg p.R639Q NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCCGCACCCGCTCTTTGCC 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999725,0.000274744 false false false SNV 0x050000000a05040402000100 1 false 134 rs147322750 26155 881554 true 251NOC2L 26155 __UNKNOWN__ hg19 1 881554 881554 + Splice_Site SNP C C T 147322750 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881554C>T ENST00000327044.6 - 16 1966 c.1916G>A c.(1915-1917)cGg>cAg p.R639Q NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCCGCACCCGCTCTTTGCC 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999725,0.000274744 false false false SNV 0x050000000a05040402000100 1 false 134 rs147322750 26155 881554 true 252NOC2L 26155 __UNKNOWN__ hg19 1 881627 881627 + Silent SNP G G A 2272757 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881627G>A ENST00000327044.6 - 16 1893 c.1843C>T c.(1843-1845)Ctg>Ttg p.L615L NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAAGGTCAGGGGTGTCCCC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.5581,0.4419 false false 1 false true true NOC2L:26155 true true false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.601312,0.398688 false false false SNV 0x050100000305170536000100 1 false 100 rs2272757 26155 881627 true 253NOC2L 26155 __UNKNOWN__ hg19 1 881784 881784 + Missense_Mutation SNP C C T 199697037 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881784C>T ENST00000327044.6 - 15 1851 c.1801G>A c.(1801-1803)Gtg>Atg p.V601M NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTAACCACTGCCTGCTGC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9996,0.0003994 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040436000100 1 false 137 rs199697037 26155 881784 true 254NOC2L 26155 __UNKNOWN__ hg19 1 881825 881825 + Missense_Mutation SNP C C T 143216532 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881825C>T ENST00000327044.6 - 15 1810 c.1760G>A c.(1759-1761)cGc>cAc p.R587H NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTGGCGGCGGCTGCAGAT 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240401 false false false SNV 0x050000000a05040402000100 1 false 134 rs143216532 26155 881825 true 255NOC2L 26155 __UNKNOWN__ hg19 1 881894 881894 + Missense_Mutation SNP G G A 200220074 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881894G>A ENST00000327044.6 - 15 1741 c.1691C>T c.(1690-1692)gCc>gTc p.A564V NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGTAGTTGGCCACCTTGCA 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000a05040402000100 1 false 137 rs200220074 26155 881894 true 256NOC2L 26155 __UNKNOWN__ hg19 1 881918 881918 + Missense_Mutation SNP G G A 35471880 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:881918G>A ENST00000327044.6 - 15 1717 c.1667C>T c.(1666-1668)tCg>tTg p.S556L NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGGAGGAACGACTTCAGCTG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9706,0.02935 false false 1 false true false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true true false 0 true 0 false 0.961605,0.0383955 false false false SNV 0x050100000a05150536000100 1 false 126 rs35471880 26155 881918 true 257NOC2L 26155 __UNKNOWN__ hg19 1 883899 883899 + Missense_Mutation SNP T T G 72631890 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:883899T>G ENST00000327044.6 - 13 1578 c.1528A>C c.(1528-1530)Aat>Cat p.N510H NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTTGACATTGGACAGCTTC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9998,0.0001997 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999794,0.000206058 false false false SNV 0x050000000a05040436000100 1 false 131 rs72631890 26155 883899 true 258NOC2L 26155 __UNKNOWN__ hg19 1 883947 883947 + Missense_Mutation SNP G G A 199834703 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:883947G>A ENST00000327044.6 - 13 1530 c.1480C>T c.(1480-1482)Cgc>Tgc p.R494C NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTCATGCGCCCTGGCTTC 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs199834703 26155 883947 true 259NOC2L 26155 __UNKNOWN__ hg19 1 887521 887521 + Splice_Site SNP T T C 377598297 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887521T>C ENST00000327044.6 - c.e11+2A>G c.e11-2 NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATGTTTCCTGGTCAGAGAG 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true true false false false false false NOC2L:26155 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000200005000402000100 1 false 138 rs377598297 26155 887521 false 260NOC2L 26155 __UNKNOWN__ hg19 1 887521 887521 + Splice_Site SNP T T C 377598297 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887521T>C ENST00000327044.6 - c.e11+2A>G c.e11-2 NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATGTTTCCTGGTCAGAGAG 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true true false false false false false NOC2L:26155 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000200005000402000100 1 false 138 rs377598297 26155 887521 false 261NOC2L 26155 __UNKNOWN__ hg19 1 887799 887799 + Missense_Mutation SNP C C T 141541533 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887799C>T ENST00000327044.6 - 10 1234 c.1184G>A c.(1183-1185)cGc>cAc p.R395H NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCTTCTTGCGAGTGGTCAT 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9992,.,0.0007987 false false 0 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998558,.,0.00144241 false false false SNV 0x050000000a05040426000100 1 false 134 rs141541533 26155 887799 true 262NOC2L 26155 __UNKNOWN__ hg19 1 887812 887812 + Missense_Mutation SNP C C A 142181102 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887812C>A ENST00000327044.6 - 10 1221 c.1171G>T c.(1171-1173)Gcc>Tcc p.A391S NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGTCATGGCGTTGCGCAGG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005,. false false false SNV 0x050000000a05040402000100 1 false 134 rs142181102 26155 887812 true 263NOC2L 26155 __UNKNOWN__ hg19 1 887874 887874 + Missense_Mutation SNP G G A 200380211 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887874G>A ENST00000327044.6 - 10 1159 c.1109C>T c.(1108-1110)cCg>cTg p.P370L NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCACACCCGGCTCCAGGGC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9996,0.0003994 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999073,0.000927261 false false false SNV 0x050000000a05040436000100 1 false 137 rs200380211 26155 887874 true 264NOC2L 26155 __UNKNOWN__ hg19 1 887967 887967 + Missense_Mutation SNP G G A 199569261 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:887967G>A ENST00000327044.6 - 10 1066 c.1016C>T c.(1015-1017)aCg>aTg p.T339M NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCACATACGTGATGTACAT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9996,0.0003994 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040436000100 1 false 137 rs199569261 26155 887967 true 265NOC2L 26155 __UNKNOWN__ hg19 1 888563 888563 + Missense_Mutation SNP C C T 150127608 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:888563C>T ENST00000327044.6 - 9 1044 c.994G>A c.(994-996)Gtc>Atc p.V332I NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTTGAGGACGGGGCCAAGG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.999,0.0009984 false false 1 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99739,0.00261007 false false false SNV 0x050000000a05040436000100 1 false 134 rs150127608 26155 888563 true 266NOC2L 26155 __UNKNOWN__ hg19 1 888659 888659 + Missense_Mutation SNP T T C 3748597 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:888659T>C ENST00000327044.6 - 9 948 c.898A>G c.(898-900)Atc>Gtc p.I300V NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCATACGATCACCATTCTC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.07728,0.9227 false false 1 false true false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.0672093,0.932791 false false false SNV 0x050100000a0515053f000100 1 false 107 rs3748597 26155 888659 true 267NOC2L 26155 __UNKNOWN__ hg19 1 889238 889238 + Missense_Mutation SNP G G A 3828049 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:889238G>A ENST00000327044.6 - 8 862 c.812C>T c.(811-813)gCg>gTg p.A271V NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCACGGCCGCCAACACCGT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9435,0.05651,. false false 1 false true false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.963081,0.0369187,. false false false SNV 0x050100000a05150536000100 1 false 107 rs3828049 26155 889238 true 268NOC2L 26155 __UNKNOWN__ hg19 1 889387 889387 + Missense_Mutation SNP T T C 200405190 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:889387T>C ENST00000327044.6 - 7 824 c.774A>G c.(772-774)atA>atG p.I258M NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAGCACCTGTATGGCCGAGC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs200405190 26155 889387 true 269NOC2L 26155 __UNKNOWN__ hg19 1 889403 889403 + Missense_Mutation SNP T T A 62639963 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:889403T>A ENST00000327044.6 - 7 808 c.758A>T c.(757-759)tAc>tTc p.Y253F NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGCCCAGGTAAGCCTTGAT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9942,0.005791 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.993269,0.00673123 false false false SNV 0x050000000a05040536000100 1 false 129 rs62639963 26155 889403 true 270NOC2L 26155 __UNKNOWN__ hg19 1 891309 891309 + Missense_Mutation SNP C C T 148852075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891309C>T ENST00000327044.6 - 6 742 c.692G>A c.(691-693)aGc>aAc p.S231N KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTACCTGCTGCTATCCTTTGC 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.999,0.0009984 false false 1 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040426000100 1 false 134 rs148852075 26155 891309 true 271NOC2L 26155 __UNKNOWN__ hg19 1 891358 891358 + Missense_Mutation SNP G G T 147225789 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891358G>T ENST00000327044.6 - 6 693 c.643C>A c.(643-645)Ctc>Atc p.L215I KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCAATGAGGTCTCTGATG 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9994,.,0.000599 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999107,6.8686e-005,0.000824232 false false false SNV 0x050100000a05040436000100 1 false 134 rs147225789 26155 891358 true 272NOC2L 26155 __UNKNOWN__ hg19 1 891384 891384 + Missense_Mutation SNP G G A 139726958 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891384G>A ENST00000327044.6 - 6 667 c.617C>T c.(616-618)gCt>gTt p.A206V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAACCAGAGCATTGAATGC 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false NOC2L:26155 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240401 false false false SNV 0x050000000a05040402000100 1 false 134 rs139726958 26155 891384 true 273NOC2L 26155 __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Splice_Site NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 26155 891393 true 274NOC2L 26155 __UNKNOWN__ hg19 1 891393 891393 + Splice_Site SNP G G A 113620763 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891393G>A ENST00000327044.6 - 6 658 c.608C>T c.(607-609)gCa>gTa p.A203V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Splice_Site NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCATTGAATGCTGCAACGAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.998523,0.00147675 false false false SNV 0x050100000a05040536000100 1 false 132 rs113620763 26155 891393 true 275NOC2L 26155 __UNKNOWN__ hg19 1 891591 891591 + Missense_Mutation SNP C C T 138672231 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891591C>T ENST00000327044.6 - 5 541 c.491G>A c.(490-492)cGc>cAc p.R164H KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGAGTGAGGCGTTGCTGAAG 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9994,0.000599 false false 0 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999244,0.000755546 false false false SNV 0x050000000a05040436000100 1 false 134 rs138672231 26155 891591 true 276NOC2L 26155 __UNKNOWN__ hg19 1 891592 891592 + Missense_Mutation SNP G G A 200815419 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:891592G>A ENST00000327044.6 - 5 540 c.490C>T c.(490-492)Cgc>Tgc p.R164C KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGTGAGGCGTTGCTGAAGG 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9998,0.0001997 false false 0 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999588,0.000412116 false false false SNV 0x050000000a05040426000100 1 false 137 rs200815419 26155 891592 true 277NOC2L 26155 __UNKNOWN__ hg19 1 892380 892380 + Missense_Mutation SNP G G A 150615968 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:892380G>A ENST00000327044.6 - 4 430 c.380C>T c.(379-381)gCg>gTg p.A127V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTTCCTCCGCTCCATCCTC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.997424,0.00257573 false false false SNV 0x050000000a05040436000100 1 false 134 rs150615968 26155 892380 true 278NOC2L 26155 __UNKNOWN__ hg19 1 892388 892388 + Missense_Mutation SNP C C G 149856680 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:892388C>G ENST00000327044.6 - 4 422 c.372G>C c.(370-372)gaG>gaC p.E124D KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGCTCCATCCTCCTCCTCAC 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9998,0.0001997 false false 0 false false false NOC2L:26155 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040426000100 1 false 134 rs149856680 26155 892388 true 279NOC2L 26155 __UNKNOWN__ hg19 1 892648 892648 + Missense_Mutation SNP C C T 185378741 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:892648C>T ENST00000327044.6 - 3 235 c.185G>A c.(184-186)cGt>cAt p.R62H KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGCCTTTACGCCGGCTGAG 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9988,0.001198 false false 1 false false false NOC2L:26155 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040436000100 1 false 135 rs185378741 26155 892648 true 280NOC2L 26155 __UNKNOWN__ hg19 1 894315 894315 + Missense_Mutation SNP G G A 201512962 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894315G>A ENST00000327044.6 - 2 223 c.173C>T c.(172-174)tCg>tTg p.S58L KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACCTGGCCGAGGGGCTCCC 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451|NOC2L:26155 false true false false true false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040426000100 1 false 137 rs201512962 26155 894315 true 281NOC2L 26155 __UNKNOWN__ hg19 1 894330 894330 + Missense_Mutation SNP G G A 144217019 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894330G>A ENST00000327044.6 - 2 208 c.158C>T c.(157-159)cCg>cTg p.P53L KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCCCGCCCGGCTTATCCGG 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false false false false false false KLHL17:339451|NOC2L:26155 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false 0.999382,0.000618174 false false false SNV 0x050000020a05040402000100 1 false 134 rs144217019 26155 894330 true 282NOC2L 26155 __UNKNOWN__ hg19 1 894573 894573 + Intron SNP G G A 13303010 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894573G>A ENST00000327044.6 - c.e1-22C>T KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCAAATCGGCCCTCGGAC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.3656,0.6344 false false 1 false true true KLHL17:339451|NOC2L:26155 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.400467,0.599533 false false false SNV 0x0501000a000517053f000100 1 false 121 rs13303010 26155 894573 true 283NOC2L 26155 __UNKNOWN__ hg19 1 894610 894610 + Missense_Mutation SNP G G A 140357200 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:894610G>A ENST00000327044.6 - 1 61 c.11C>T c.(10-12)gCg>gTg p.A4V KLHL17_ENST00000338591.3_5'Flank|NOC2L_ENST00000487214.1_Intron NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN NOC2 like nucleolar associated transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGCTCCCCGCAGCTGCCAT 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC003555 HGNC:24517 Approved gene with protein product protein-coding gene "nucleolar complex associated 2 homolog (S. cerevisiae)" DKFZP564C186, NET7, NET15, NIR, PPP1R112 "novel INHAT repressor", "protein phosphatase 1, regulatory subunit 12" 1p36.33 2016-02-15 2016-02-15 AL050019 ENSG00000188976 20123734, 22363708 NM_015658 694 Protein phosphatase 1 regulatory subunits CCDS3 OTTHUMG00000040720 610770 NM_015658 Q9Y3T9 ENSG00000188976 uc001abz.5 Q5SVA3|Q9BTN6 true false 0.9994,0.000599 false false 0 false false false KLHL17:339451|NOC2L:26155 false true false false true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999691,0.000309087 false false false SNV 0x050000020a05040426000100 1 false 134 rs140357200 26155 894610 true 284KLHL17 339451 __UNKNOWN__ hg19 1 897009 897009 + Splice_Site SNP A A G 138690517 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897009A>G ENST00000338591.3 + 3 475 c.368A>G c.(367-369)aAt>aGt p.N123S NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCCGCAGATGAGATGAGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9992,0.0007987 false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000020a05040436000100 1 false 134 rs138690517 339451 897009 true 285KLHL17 339451 __UNKNOWN__ hg19 1 897009 897009 + Splice_Site SNP A A G 138690517 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897009A>G ENST00000338591.3 + 3 475 c.368A>G c.(367-369)aAt>aGt p.N123S NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCCCGCAGATGAGATGAGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9992,0.0007987 false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000020a05040436000100 1 false 134 rs138690517 339451 897009 true 286KLHL17 339451 __UNKNOWN__ hg19 1 897285 897285 + Missense_Mutation SNP A A G 149866042 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897285A>G ENST00000338591.3 + 4 676 c.569A>G c.(568-570)gAc>gGc p.D190G NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCAGCTCGACCCCTCCAAC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040402000100 1 false 137 rs149866042 339451 897285 true 287KLHL17 339451 __UNKNOWN__ hg19 1 897849 897849 + Missense_Mutation SNP C C T 146903778 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:897849C>T ENST00000338591.3 + 5 933 c.826C>T c.(826-828)Cgg>Tgg p.R276W NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATGTCCCACGGGTGAGGCG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false false 0 true 0 true 0.999622,0.000377773 false false false SNV 0x050100000b05040402000100 1 false 134 rs146903778 339451 897849 true 288KLHL17 339451 __UNKNOWN__ hg19 1 898153 898153 + Missense_Mutation SNP C C A 147703918 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898153C>A ENST00000338591.3 + 6 1005 c.898C>A c.(898-900)Ctg>Atg p.L300M NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCGAGAGCCTGGTGAGGCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9986,0.001398,. false false 1 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.998695,0.00130503,. false false false SNV 0x050000000a05040436000100 1 false 134 rs147703918 339451 898153 true 289KLHL17 339451 __UNKNOWN__ hg19 1 898247 898247 + Missense_Mutation SNP G G A 146171900 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898247G>A ENST00000338591.3 + 6 1099 c.992G>A c.(991-993)cGc>cAc p.R331H NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCACCAGCCGCACACGTCCC 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040402000100 1 false 134 rs146171900 339451 898247 true 290KLHL17 339451 __UNKNOWN__ hg19 1 898542 898542 + Missense_Mutation SNP A A G 186429850 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898542A>G ENST00000338591.3 + 7 1203 c.1096A>G c.(1096-1098)Acc>Gcc p.T366A NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGACACGCGCACCGACCGCTG 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9996,0.0003994 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false false SNV 0x050200000a05040436000100 1 false 135 rs186429850 339451 898542 true 291KLHL17 339451 __UNKNOWN__ hg19 1 898782 898782 + Missense_Mutation SNP C C T 200489647 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898782C>T ENST00000338591.3 + 8 1360 c.1253C>T c.(1252-1254)cCg>cTg p.P418L NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTGGCAGCCGGAGGTGTCC 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 true 0 false 0.99976,.,0.000240401 false false false SNV 0x050300000a05040402000100 1 false 137 rs200489647 339451 898782 true 292KLHL17 339451 __UNKNOWN__ hg19 1 898787 898787 + Missense_Mutation SNP G G T 143920987 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898787G>T ENST00000338591.3 + 8 1365 c.1258G>T c.(1258-1260)Gtg>Ttg p.V420L NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGCCGGAGGTGTCCATGGG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999485,0.000515145 false false false SNV 0x050200000a05040436000100 1 false 134 rs143920987 339451 898787 true 293KLHL17 339451 __UNKNOWN__ hg19 1 898869 898869 + Missense_Mutation SNP C C T 138106672 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:898869C>T ENST00000338591.3 + 8 1447 c.1340C>T c.(1339-1341)gCc>gTc p.A447V NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGACGGGGCCTCCTGCCTG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999897,0.000103036 false false false SNV 0x050200000a05040402000100 1 false 134 rs138106672 339451 898869 true 294KLHL17 339451 __UNKNOWN__ hg19 1 899489 899489 + Missense_Mutation SNP G G A 200468119 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899489G>A ENST00000338591.3 + 10 1554 c.1447G>A c.(1447-1449)Ggg>Agg p.G483R NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGGCAGATGGGAACCTGTA 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false KLHL17:339451 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040402000100 1 false 137 rs200468119 339451 899489 true 295KLHL17 339451 __UNKNOWN__ hg19 1 899537 899537 + Missense_Mutation SNP A A G 192525640 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899537A>G ENST00000338591.3 + 10 1602 c.1495A>G c.(1495-1497)Act>Gct p.T499A NOC2L_ENST00000327044.6_5'Flank|PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank|NOC2L_ENST00000487214.1_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCTGGCCACTGTGGAGAA 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040436000100 1 false 135 rs192525640 339451 899537 true 296KLHL17 339451 __UNKNOWN__ hg19 1 899789 899789 + Missense_Mutation SNP G G A 199893924 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:899789G>A ENST00000338591.3 + 11 1686 c.1579G>A c.(1579-1581)Gtg>Atg p.V527M PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCGTGGCCGTGCTGGAGGG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9998,0.0001997 false false 0 false false false KLHL17:339451 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999485,0.000515145 false false false SNV 0x050200000a05040436000100 1 false 137 rs199893924 339451 899789 true 297KLHL17 339451 __UNKNOWN__ hg19 1 900383 900383 + Missense_Mutation SNP G G A 749868050 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900383G>A ENST00000338591.3 + 12 1848 c.1741G>A c.(1741-1743)Gcc>Acc p.A581T PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGGTTGTACGCCGTGGGGGG 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false PLEKHN1:84069|KLHL17:339451 false false false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040002000100 1 false 144 rs749868050 339451 900383 true 298KLHL17 339451 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 339451 900427 true 299KLHL17 339451 __UNKNOWN__ hg19 1 900427 900427 + Silent SNP G G A 115741058 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900427G>A ENST00000338591.3 + 12 1892 c.1785G>A c.(1783-1785)gaG>gaA p.E595E PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCCATCGAGAAGTACAACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false 0.9649,0.03514 false false 1 false true false PLEKHN1:84069|KLHL17:339451 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.949413,0.0505873 false false false SNV 0x05030002030515043e000100 1 false 132 rs115741058 339451 900427 true 300KLHL17 339451 __UNKNOWN__ hg19 1 900519 900519 + Missense_Mutation SNP A A G 140019196 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900519A>G ENST00000338591.3 + 12 1984 c.1877A>G c.(1876-1878)aAt>aGt p.N626S PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTGCTCAATTTCCCGCCG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false PLEKHN1:84069|KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false 0.999657,0.000343454 false false false SNV 0x050000020a05040402000100 1 false 134 rs140019196 339451 900519 true 301KLHL17 339451 __UNKNOWN__ hg19 1 900560 900560 + Missense_Mutation SNP A A C 188543688 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:900560A>C ENST00000338591.3 + 12 2025 c.1918A>C c.(1918-1920)Acc>Ccc p.T640P PLEKHN1_ENST00000379407.3_5'Flank|PLEKHN1_ENST00000379409.2_5'Flank|PLEKHN1_ENST00000379410.3_5'Flank NM_198317.2 NP_938073.1 Q6TDP4 KLH17_HUMAN kelch like family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|protein ubiquitination (GO:0016567) actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|dendrite cytoplasm (GO:0032839)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211) protein complex scaffold (GO:0032947) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGTCCTCCACCAGCCTCTG 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24023 Approved gene with protein product protein-coding gene "kelch-like 17 (Drosophila)" "actinfilin" 1p36.33 2016-10-05 2015-11-18 AY423763 ENSG00000187961 12063253 NM_198317 861|617 BTB domain containing|Kelch like CCDS30550 OTTHUMG00000040721 NM_198317 Q6TDP4 ENSG00000187961 uc001aca.3 Q5SV94 true false false false false false false PLEKHN1:84069|KLHL17:339451 false true false false false false false false false false false true false false false false false false true true false false 0 false 0 false false false false SNV 0x050000020a05040402000100 1 false 135 rs188543688 339451 900560 true 302PLEKHN1 84069 __UNKNOWN__ hg19 1 901922 901922 + Missense_Mutation SNP G G A 62639980 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:901922G>A ENST00000379410.3 + 1 46 c.11G>A c.(10-12)aGc>aAc p.S4N PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S4N|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.S4N NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGGGGAACAGCCACTGTGTC 0.7231920199501247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9882,0.01058,0.001198 false false 1 false false false PLEKHN1:84069 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.98221,0.0158321,0.00195755 false false false SNV 0x050100000a05140536000100 1 false 129 rs62639980 84069 901922 true 303PLEKHN1 84069 __UNKNOWN__ hg19 1 901923 901923 + Missense_Mutation SNP C C A 149741186 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:901923C>A ENST00000379410.3 + 1 47 c.12C>A c.(10-12)agC>agA p.S4R PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S4R|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.S4R NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGAACAGCCACTGTGTCC 0.7256857855361596 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9894,0.01058 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.984168,0.0158321 false false false SNV 0x050100000a05140436000100 1 false 134 rs149741186 84069 901923 true 304PLEKHN1 84069 __UNKNOWN__ hg19 1 902088 902088 + Missense_Mutation SNP G G A 201730138 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:902088G>A ENST00000379410.3 + 2 123 c.88G>A c.(88-90)Gac>Aac p.D30N PLEKHN1_ENST00000379407.3_Missense_Mutation_p.D30N|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.D30N NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCAGAGAGGACAGCGCGCG 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9988,0.001198 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999622,0.000377773 false false false SNV 0x050000000a05040436000100 1 false 137 rs201730138 84069 902088 true 305PLEKHN1 84069 __UNKNOWN__ hg19 1 902128 902128 + Missense_Mutation SNP C C T 28499371 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:902128C>T ENST00000379410.3 + 2 163 c.128C>T c.(127-129)gCt>gTt p.A43V PLEKHN1_ENST00000379407.3_Missense_Mutation_p.A43V|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.A43V NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCCCGAGGCTGCTCGAAGC 0.7231920199501247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9439,0.05611 false false 1 false true false PLEKHN1:84069 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.971221,0.0287794 false false false SNV 0x050100000a05150537000100 1 false 125 rs28499371 84069 902128 true 306PLEKHN1 84069 __UNKNOWN__ hg19 1 902133 902133 + Missense_Mutation SNP C C G 202165740 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:902133C>G ENST00000379410.3 + 2 168 c.133C>G c.(133-135)Cga>Gga p.R45G PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R45G|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R45G NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGGCTGCTCGAAGCGGGGA 0.7256857855361596 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true true false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005,. false false false SNV 0x050000000e05040402000100 1 false 137 rs202165740 84069 902133 true 307PLEKHN1 84069 __UNKNOWN__ hg19 1 902176 902176 + Missense_Mutation SNP C C T 200379767 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:902176C>T ENST00000379410.3 + 2 211 c.176C>T c.(175-177)cCg>cTg p.P59L PLEKHN1_ENST00000379407.3_Missense_Mutation_p.P59L|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.P59L NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTACATCCCGGGCACGGTG 0.7206982543640897 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false false SNV 0x050000000a05040402000100 1 false 137 rs200379767 84069 902176 true 308PLEKHN1 84069 __UNKNOWN__ hg19 1 904165 904165 + Intron SNP G G A 28391282 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:904165G>A ENST00000379410.3 + c.e3-1492G>A PLEKHN1_ENST00000379407.3_Intron|PLEKHN1_ENST00000379409.2_Intron NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAAGGAGGGGGGTCAGGACTG 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.8982,0.1018 false false 1 false true false PLEKHN1:84069 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.908098,0.0919019 false false false SNV 0x05010008000515053f000100 1 false 125 rs28391282 84069 904165 true 309PLEKHN1 84069 __UNKNOWN__ hg19 1 905669 905669 + Missense_Mutation SNP C C G 111483874 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:905669C>G ENST00000379410.3 + 3 231 c.196C>G c.(196-198)Ctg>Gtg p.L66V PLEKHN1_ENST00000379407.3_Missense_Mutation_p.L66V|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.L66V NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCCTGGACCTGGAGAACCA 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9992,0.0007987,. false false 0 false false false PLEKHN1:84069 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 true 0.998145,0.00185452,. false false false SNV 0x050100000b05040536000100 1 false 132 rs111483874 84069 905669 true 310PLEKHN1 84069 __UNKNOWN__ hg19 1 905723 905723 + Missense_Mutation SNP G G A 150703609 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:905723G>A ENST00000379410.3 + 3 285 c.250G>A c.(250-252)Ggg>Agg p.G84R PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G84R|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.G84R NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTCAAGAAGGGGCGGCGGAG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9998,0.0001997 false false 0 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999691,0.000309087 false false false SNV 0x050000000a05040436000100 1 false 134 rs150703609 84069 905723 true 311PLEKHN1 84069 __UNKNOWN__ hg19 1 905729 905729 + Missense_Mutation SNP C C T 199982229 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:905729C>T ENST00000379410.3 + 3 291 c.256C>T c.(256-258)Cgg>Tgg p.R86W PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R86W|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R86W NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGGGCGGCGGAGGGTGCC 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9996,0.0003994 false false 0 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999897,0.000103029 false false false SNV 0x050000000a05040436000100 1 false 137 rs199982229 84069 905729 true 312PLEKHN1 84069 __UNKNOWN__ hg19 1 905901 905901 + Splice_Site SNP G G A 200191592 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:905901G>A ENST00000379410.3 + 4 366 c.331G>A c.(331-333)Gat>Aat p.D111N PLEKHN1_ENST00000379407.3_Splice_Site_p.D111N|PLEKHN1_ENST00000379409.2_Splice_Site_p.D111N NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCGCGCAGGATGTCAGCGA 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false true false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040416000100 1 false 137 rs200191592 84069 905901 true 313PLEKHN1 84069 __UNKNOWN__ hg19 1 905901 905901 + Splice_Site SNP G G A 200191592 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:905901G>A ENST00000379410.3 + 4 366 c.331G>A c.(331-333)Gat>Aat p.D111N PLEKHN1_ENST00000379407.3_Splice_Site_p.D111N|PLEKHN1_ENST00000379409.2_Splice_Site_p.D111N NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCGCGCAGGATGTCAGCGA 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false true false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040416000100 1 false 137 rs200191592 84069 905901 true 314PLEKHN1 84069 __UNKNOWN__ hg19 1 906067 906067 + Splice_Site SNP G G A 199749406 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906067G>A ENST00000379410.3 + 5 448 c.413G>A c.(412-414)gGg>gAg p.G138E PLEKHN1_ENST00000379407.3_Splice_Site_p.G138E|PLEKHN1_ENST00000379409.2_Splice_Site_p.G138E NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCTGGCAGGGGCTGTTACCG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs199749406 84069 906067 true 315PLEKHN1 84069 __UNKNOWN__ hg19 1 906067 906067 + Splice_Site SNP G G A 199749406 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906067G>A ENST00000379410.3 + 5 448 c.413G>A c.(412-414)gGg>gAg p.G138E PLEKHN1_ENST00000379407.3_Splice_Site_p.G138E|PLEKHN1_ENST00000379409.2_Splice_Site_p.G138E NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCTGGCAGGGGCTGTTACCG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 137 rs199749406 84069 906067 true 316PLEKHN1 84069 __UNKNOWN__ hg19 1 906100 906100 + Missense_Mutation SNP C C T 144236796 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906100C>T ENST00000379410.3 + 5 481 c.446C>T c.(445-447)cCg>cTg p.P149L PLEKHN1_ENST00000379407.3_Missense_Mutation_p.P149L|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.P149L NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGTCTGCCCGCTCGAGGGG 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040402000100 1 false 134 rs144236796 84069 906100 true 317PLEKHN1 84069 __UNKNOWN__ hg19 1 906132 906132 + Missense_Mutation SNP A A G 147501349 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906132A>G ENST00000379410.3 + 5 513 c.478A>G c.(478-480)Atc>Gtc p.I160V PLEKHN1_ENST00000379407.3_Missense_Mutation_p.I160V|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.I160V NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCCTTCCAGATCACAGGTGT 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9998,0.0001997 false false 0 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99976,0.000240401 false false false SNV 0x050000000a05040436000100 1 false 134 rs147501349 84069 906132 true 318PLEKHN1 84069 __UNKNOWN__ hg19 1 906298 906298 + Missense_Mutation SNP G G A 199870272 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906298G>A ENST00000379410.3 + 6 559 c.524G>A c.(523-525)cGg>cAg p.R175Q PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R175Q|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R215Q NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCCCAGCCGGGCCGAGCTG 0.7032418952618454 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999451,0.000549488 false false false SNV 0x050000000a05040402000100 1 false 137 rs199870272 84069 906298 true 319PLEKHN1 84069 __UNKNOWN__ hg19 1 906472 906472 + Intron SNP G G A 201680039 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906472G>A ENST00000379410.3 + c.e7-21G>A PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E210K|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.E250K NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCGGAGACGAACTCCCCTG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.999,0.0009984 false false 1 false false false PLEKHN1:84069 false true true true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999347,0.000652517 false false false SNV 0x050000080a05040436000100 1 false 137 rs201680039 84069 906472 true 320PLEKHN1 84069 __UNKNOWN__ hg19 1 906494 906494 + Splice_Site SNP G G A 200703251 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906494G>A ENST00000379410.3 + 7 649 c.614G>A c.(613-615)cGc>cAc p.R205H PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R217H|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R257H NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTGCAGCGCCGTCTAACC 0.7057356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040402000100 1 false 137 rs200703251 84069 906494 true 321PLEKHN1 84069 __UNKNOWN__ hg19 1 906494 906494 + Splice_Site SNP G G A 200703251 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906494G>A ENST00000379410.3 + 7 649 c.614G>A c.(613-615)cGc>cAc p.R205H PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R217H|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R257H NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTGCAGCGCCGTCTAACC 0.7057356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000000a05040402000100 1 false 137 rs200703251 84069 906494 true 322PLEKHN1 84069 __UNKNOWN__ hg19 1 906512 906512 + Missense_Mutation SNP G G A 201888830 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906512G>A ENST00000379410.3 + 7 667 c.632G>A c.(631-633)cGg>cAg p.R211Q PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R223Q|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R263Q NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCGGCTGCGGACGGCGTCA 0.7032418952618454 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9988,0.001198,. false false 1 false false false PLEKHN1:84069 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999828,0.000171715,. false false false SNV 0x050000000a05040426000100 1 false 137 rs201888830 84069 906512 true 323PLEKHN1 84069 __UNKNOWN__ hg19 1 906583 906583 + Missense_Mutation SNP G G A 200886536 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906583G>A ENST00000379410.3 + 7 738 c.703G>A c.(703-705)Gca>Aca p.A235T PLEKHN1_ENST00000379407.3_Missense_Mutation_p.A247T|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.A287T NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCACCTGCCCGCACAGGTGGG 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9994,0.000599 false false 0 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999554,0.000446459 false false false SNV 0x050200000a05040436000100 1 false 137 rs200886536 84069 906583 true 324PLEKHN1 84069 __UNKNOWN__ hg19 1 906717 906717 + Missense_Mutation SNP G G A 139460652 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:906717G>A ENST00000379410.3 + 8 757 c.722G>A c.(721-723)cGg>cAg p.R241Q PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R253Q|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R293Q NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTGGGACCGGCTCTTGGTC 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999657,0.00034343 false false false SNV 0x050200000a05040402000100 1 false 134 rs139460652 84069 906717 true 325PLEKHN1 84069 __UNKNOWN__ hg19 1 907676 907676 + Missense_Mutation SNP A A T 145042066 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:907676A>T ENST00000379410.3 + 10 909 c.874A>T c.(874-876)Atc>Ttc p.I292F PLEKHN1_ENST00000379407.3_Missense_Mutation_p.I304F|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.I344F NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCCCCTCATCAACACCAT 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.999,0.0009984 false false 1 false false false PLEKHN1:84069 false true false false true false false false false false false true false false false false false false false true false true 0 false 0 false 0.998077,0.00192321 false false false SNV 0x050200000a05040426000100 1 false 134 rs145042066 84069 907676 true 326PLEKHN1 84069 __UNKNOWN__ hg19 1 907709 907709 + Missense_Mutation SNP G G A 150711457 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:907709G>A ENST00000379410.3 + 10 942 c.907G>A c.(907-909)Gag>Aag p.E303K PLEKHN1_ENST00000379407.3_Missense_Mutation_p.E315K|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.E355K NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCCAGCTACGAGGACTACGG 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false false false false false false PLEKHN1:84069 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040402000100 1 false 134 rs150711457 84069 907709 true 327PLEKHN1 84069 __UNKNOWN__ hg19 1 907799 907799 + Missense_Mutation SNP T T C 111909377 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:907799T>C ENST00000379410.3 + 10 1032 c.997T>C c.(997-999)Tcg>Ccg p.S333P PLEKHN1_ENST00000379407.3_Missense_Mutation_p.S345P|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.S385P NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCCAGGGTCGCAGGTGAG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9876,0.01238 false false 1 false true false PLEKHN1:84069 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.984271,0.0157291 false false false SNV 0x050100000a05150536000100 1 false 132 rs111909377 84069 907799 true 328PLEKHN1 84069 __UNKNOWN__ hg19 1 908275 908275 + Missense_Mutation SNP G G A 145574509 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908275G>A ENST00000379410.3 + 11 1072 c.1037G>A c.(1036-1038)gGc>gAc p.G346D PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G358D|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.G398D NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTCCTCAGGCGGACAGACC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9878,0.01218 false false 1 false true false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.994677,0.00532317 false false false SNV 0x050000000a05150436000100 1 false 134 rs145574509 84069 908275 true 329PLEKHN1 84069 __UNKNOWN__ hg19 1 908323 908323 + Missense_Mutation SNP G G A 61732689 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908323G>A ENST00000379410.3 + 11 1120 c.1085G>A c.(1084-1086)cGc>cAc p.R362H PLEKHN1_ENST00000379407.3_Missense_Mutation_p.R374H|PLEKHN1_ENST00000379409.2_Missense_Mutation_p.R414H NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTCCACCCGCACCAGCCAC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9872,0.01278 false false 1 false true false PLEKHN1:84069 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.984237,0.0157634 false false false SNV 0x050100000a05150536000100 1 false 129 rs61732689 84069 908323 true 330PLEKHN1 84069 __UNKNOWN__ hg19 1 908389 908389 + Splice_Site SNP C C T 75748725 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908389C>T ENST00000379410.3 + 11 1186 c.1151C>T c.(1150-1152)cCg>cTg p.P384L PLEKHN1_ENST00000379407.3_Splice_Site_p.P396L|PLEKHN1_ENST00000379409.2_Splice_Site_p.P436L NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCACACACCGGTGAGCGCT 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.999,.,0.0009984 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.99715,.,0.00285047 false false false SNV 0x050100000a05040436000100 1 false 131 rs75748725 84069 908389 true 331PLEKHN1 84069 __UNKNOWN__ hg19 1 908390 908390 + Splice_Site SNP G G A 148169601 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908390G>A ENST00000379410.3 + 11 1187 c.1152G>A c.(1150-1152)ccG>ccA p.P384P PLEKHN1_ENST00000379407.3_Splice_Site_p.P396P|PLEKHN1_ENST00000379409.2_Splice_Site_p.P436P NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCACACACCGGTGAGCGCTT 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9968,0.003195 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999897,0.000103029 false false false SNV 0x050000000305040436000100 1 false 134 rs148169601 84069 908390 true 332PLEKHN1 84069 __UNKNOWN__ hg19 1 908390 908390 + Splice_Site SNP G G A 148169601 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:908390G>A ENST00000379410.3 + 11 1187 c.1152G>A c.(1150-1152)ccG>ccA p.P384P PLEKHN1_ENST00000379407.3_Splice_Site_p.P396P|PLEKHN1_ENST00000379409.2_Splice_Site_p.P436P NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCACACACCGGTGAGCGCTT 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9968,0.003195 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999897,0.000103029 false false false SNV 0x050000000305040436000100 1 false 134 rs148169601 84069 908390 true 333PLEKHN1 84069 __UNKNOWN__ hg19 1 909320 909320 + Silent SNP C C T 144710974 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:909320C>T ENST00000379410.3 + 14 1577 c.1542C>T c.(1540-1542)ccC>ccT p.P514P PLEKHN1_ENST00000379407.3_Silent_p.P479P|PLEKHN1_ENST00000379409.2_Silent_p.P566P NM_032129.2 NP_115505.2 Q494U1 PKHN1_HUMAN pleckstrin homology domain containing N1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCCGGCCCCGCTGGCCCCT 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25284 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family N member 1" DKFZP434H2010 1p36.33 2015-11-18 2015-11-18 AL136730 ENSG00000187583 11230166 NM_032129 682 Pleckstrin homology domain containing CCDS4, CCDS53256 OTTHUMG00000040756 NM_001160184 Q494U1 ENSG00000187583 uc001acd.4 Q494U2|Q5SV98|Q9H0M7 true false 0.9986,0.001398 false false 1 false false false PLEKHN1:84069 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.998077,0.00192334 false false false SNV 0x050000000305040436000100 1 false 134 rs144710974 84069 909320 true 334C1orf170 __UNKNOWN__ hg19 1 918573 918573 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:918573A>G ENST00000341290.2 - C1orf170_ENST00000433179.2_5'Flank Q5SV97 PERM1_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|response to muscle activity (GO:0014850)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAACCTCTCACATTTCCAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Q6ZVZ7|Q9BRF2|S5G239 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 335Unknown __UNKNOWN__ hg19 1 928836 928836 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:928836C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTAAAGCCGAACTGGAAA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 336RP11-54O7.17 __UNKNOWN__ hg19 1 932457 932457 + RNA SNP G G A 1891910 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:932457G>A ENST00000606034.1 - c.e1-974C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTCAAAGGGATGGATTAGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8684,0.1316,. false false 1 false true false true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.840569,0.159397,3.43454e-005 false false false SNV 0x05010000000515053f000100 1 false 92 rs1891910 932457 true 337ISG15 9636 __UNKNOWN__ hg19 1 944564 944564 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:944564T>C ENST00000379389.4 + NM_005101.3 NP_005092.1 P05161 ISG15_HUMAN ISG15 ubiquitin-like modifier __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular region (GO:0005576) protein tag (GO:0031386) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAATACATTTCTGTGGTGTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M21786 HGNC:4053 Approved gene with protein product protein-coding gene G1P2 "interferon, alpha-inducible protein (clone IFI-15K)" IFI15, UCRP 1p36.33 2015-08-25 2006-04-28 2006-04-28 BC009507 ENSG00000187608 3087979 NM_005101 CCDS6 OTTHUMG00000040777 147571 NM_005101 P05161 ENSG00000187608 uc001acj.5 Q5SVA4|Q7Z2G2|Q96GF0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9636 false 338AGRN 375790 __UNKNOWN__ hg19 1 962210 962210 + Intron SNP A A G 3128126 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:962210A>G ENST00000379370.2 + c.e2+4368A>G NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATATCACCCCATGGACAGTCG 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false 0.6945,0.3055 false false 1 false true true AGRN:375790 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.661481,0.338519 false false false SNV 0x05010008000517053f000100 1 false 103 rs3128126 375790 962210 true 339AGRN 375790 __UNKNOWN__ hg19 1 980903 980903 + Splice_Site SNP C C T 138248828 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:980903C>T ENST00000379370.2 + 14 2586 c.2536C>T c.(2536-2538)Ccc>Tcc p.P846S NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGTACACGTGAGTGACA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false false false false false false AGRN:375790 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs138248828 375790 980903 true 340AGRN 375790 __UNKNOWN__ hg19 1 981345 981345 + Splice_Site SNP C C T 118105080 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:981345C>T ENST00000379370.2 + 16 2732 c.2682C>T c.(2680-2682)gaC>gaT p.D894D NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAGACGCTTCTGCGC 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false 0.998,0.001997 false false 1 false false false AGRN:375790 false true false true true false false false false false false false false false false true true false false true false false 0 true 0 true 0.99976,0.000240401 false false false SNV 0x050128000305040436000100 1 false 132 rs118105080 375790 981345 true 341AGRN 375790 __UNKNOWN__ hg19 1 981345 981345 + Splice_Site SNP C C T 118105080 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:981345C>T ENST00000379370.2 + 16 2732 c.2682C>T c.(2680-2682)gaC>gaT p.D894D NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAGACGCTTCTGCGC 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false 0.998,0.001997 false false 1 false false false AGRN:375790 false true false true true false false false false false false false false false false true true false false true false false 0 true 0 true 0.99976,0.000240401 false false false SNV 0x050128000305040436000100 1 false 132 rs118105080 375790 981345 true 342AGRN 375790 __UNKNOWN__ hg19 1 984947 984947 + Splice_Site SNP G G A 200182409 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:984947G>A ENST00000379370.2 + 26 4566 c.4516G>A c.(4516-4518)Gcg>Acg p.A1506T NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGGCAGGGCGCTGGAGCG 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false 0.999,0.0009984 false false 1 false false false AGRN:375790 false true false true true false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040436000100 1 false 137 rs200182409 375790 984947 true 343AGRN 375790 __UNKNOWN__ hg19 1 985614 985614 + Splice_Site SNP C C T 144586153 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:985614C>T ENST00000379370.2 + 28 4931 c.4881C>T c.(4879-4881)gcC>gcT p.A1627A RP11-54O7.14_ENST00000418300.1_5'Flank NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCTACAGCCTCGGGGCAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false 0.9998,0.0001997 false false 0 false false false AGRN:375790 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999691,0.000309087 false false false SNV 0x050000000305040436000100 1 false 134 rs144586153 375790 985614 true 344AGRN 375790 __UNKNOWN__ hg19 1 985614 985614 + Splice_Site SNP C C T 144586153 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:985614C>T ENST00000379370.2 + 28 4931 c.4881C>T c.(4879-4881)gcC>gcT p.A1627A RP11-54O7.14_ENST00000418300.1_5'Flank NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCTACAGCCTCGGGGCAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false 0.9998,0.0001997 false false 0 false false false AGRN:375790 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999691,0.000309087 false false false SNV 0x050000000305040436000100 1 false 134 rs144586153 375790 985614 true 345AGRN 375790 __UNKNOWN__ hg19 1 990417 990417 + 3'UTR SNP T T C 2465136 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:990417T>C ENST00000379370.2 + 36 RP11-54O7.14_ENST00000418300.1_RNA|RP11-465B22.3_ENST00000427998.1_5'Flank NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808) basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202) acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(32)|central_nervous_system(45)|kidney(1)|large_intestine(35)|lung(2)|pancreas(22)|upper_aerodigestive_tract(24) 163 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAAACTTGTTGCTTTTTGAT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U84406 HGNC:329 Approved gene with protein product protein-coding gene AGRIN "agrin proteoglycan" 1p36.33 2017-07-07 2007-02-16 XM_372195 ENSG00000188157 1851019, 12270958 NM_198576 570 Proteoglycans CCDS30551 OTTHUMG00000040778 103320 NM_001305275 O00468 ENSG00000188157 uc001ack.3 Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4 true false 0.616,0.384 false false 1 false true true AGRN:375790 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.565114,0.434886 false true false SNV 0x05010080000517053f000100 1 false 100 rs2465136 375790 990417 true 346RP11-465B22.3 __UNKNOWN__ hg19 1 998395 998395 + RNA SNP A A G 7526076 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:998395A>G ENST00000427998.1 + c.e3-64A>G RP11-54O7.18_ENST00000442292.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGGAAACAATGAGGGAGGT 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.1777,0.8223 false false 1 false true true LOC100288175:100288175 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.225771,0.774229 false false false SNV 0x05010008000517053f000100 1 false 116 rs7526076 998395 true 347C1orf159 54991 __UNKNOWN__ hg19 1 1018704 1018704 + Intron SNP A A G 9442372 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1018704A>G ENST00000379339.1 - c.e12+337T>C C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGTAGTCCCAAGACCTCGAA 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC008788 HGNC:26062 Approved gene with protein product protein-coding gene FLJ20584 1p36.33 2016-09-30 AK128434 ENSG00000131591 12975309 NM_017891 CCDS7, CCDS81250 OTTHUMG00000000745 NM_017891 Q96HA4 ENSG00000131591 uc001acu.3 B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0 true false 0.389,0.611 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.413524,0.586476 false false false SNV 0x05010008000517053f000101 1 false 119 rs9442372 54991 1018704 true 348C1orf159 54991 __UNKNOWN__ hg19 1 1021583 1021583 + Intron SNP A A C 10907178 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1021583A>C ENST00000379339.1 - c.e9+191T>G C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000379320.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000482816.1_Intron Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCCTGGGCATCTGGCCGCG 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC008788 HGNC:26062 Approved gene with protein product protein-coding gene FLJ20584 1p36.33 2016-09-30 AK128434 ENSG00000131591 12975309 NM_017891 CCDS7, CCDS81250 OTTHUMG00000000745 NM_017891 Q96HA4 ENSG00000131591 uc001acu.3 B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0 true false 0.8263,0.1737 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.814754,0.185246 false false false SNV 0x05010008000517053f000100 1 false 120 rs10907178 54991 1021583 true 349C1orf159 54991 __UNKNOWN__ hg19 1 1030565 1030565 + Intron SNP C C T 6687776 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1030565C>T ENST00000379339.1 - c.e3+3082G>A C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000379320.1_5'Flank|C1orf159_ENST00000482816.1_Intron Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGATTAATTGCTTTGGCAATT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC008788 HGNC:26062 Approved gene with protein product protein-coding gene FLJ20584 1p36.33 2016-09-30 AK128434 ENSG00000131591 12975309 NM_017891 CCDS7, CCDS81250 OTTHUMG00000000745 NM_017891 Q96HA4 ENSG00000131591 uc001acu.3 B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0 true false 0.6933,0.3067 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.686242,0.313758 false false false SNV 0x05012808000517053f000101 1 false 116 rs6687776 54991 1030565 true 350C1orf159 54991 __UNKNOWN__ hg19 1 1040026 1040026 + Intron SNP T T C 6671356 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1040026T>C ENST00000379339.1 - c.e2-10376A>G C1orf159_ENST00000421241.2_Intron|C1orf159_ENST00000379319.1_Intron|C1orf159_ENST00000448924.1_Intron|C1orf159_ENST00000294576.5_Intron|C1orf159_ENST00000437760.1_Intron|C1orf159_ENST00000482816.1_Intron Q96HA4 CA159_HUMAN chromosome 1 open reading frame 159 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCCTGCATGGTCTGGACA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC008788 HGNC:26062 Approved gene with protein product protein-coding gene FLJ20584 1p36.33 2016-09-30 AK128434 ENSG00000131591 12975309 NM_017891 CCDS7, CCDS81250 OTTHUMG00000000745 NM_017891 Q96HA4 ENSG00000131591 uc001acu.3 B3KQ46|Q5T2W6|Q6UX67|Q6ZR77|Q9NWV0 true false 0.7171,0.2829 false false 1 false true true C1orf159:54991 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.710488,0.289512 false false false SNV 0x05010008000517053f000100 1 false 116 rs6671356 54991 1040026 true 351Unknown __UNKNOWN__ hg19 1 1062638 1062638 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1062638C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCCCGCCGCAGCTTTAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 352Unknown __UNKNOWN__ hg19 1 1062638 1062638 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1062638C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCCCGCCGCAGCTTTAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353Unknown __UNKNOWN__ hg19 1 1066403 1066403 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1066403T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCCGGCAATGGCATCCCAA 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 354Unknown __UNKNOWN__ hg19 1 1097335 1097335 + IGR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1097335T>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCTCTTCCTCTGGGAGATG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 355TTLL10 254173 __UNKNOWN__ hg19 1 1106784 1106784 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1106784T>C ENST00000379289.1 + TTLL10_ENST00000379290.1_5'Flank|TTLL10_ENST00000506177.1_5'Flank NM_001130045.1 NP_001123517.1 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGGCCAGTTCTGGAGAGG 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 254173 false 356TTLL10 254173 __UNKNOWN__ hg19 1 1110019 1110019 + Intron SNP A A G 11260542 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1110019A>G ENST00000379290.1 + c.e3+150A>G TTLL10_ENST00000379289.1_Intron|TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000506177.1_Intron Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGACACGTCAGTCAGCATCT 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.8554,0.1446 false false 1 false true false TTLL10:254173|TTLL10-AS1:100506376 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.84422,0.15578 false false false SNV 0x050100080005150537000100 1 false 120 rs11260542 254173 1110019 true 357TTLL10 254173 __UNKNOWN__ hg19 1 1113121 1113121 + Intron SNP G G A 12092254 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1113121G>A ENST00000379290.1 + c.e4-1448G>A TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379288.3_5'Flank|TTLL10-AS1_ENST00000379317.1_RNA Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGCTGAGGGCCCATGAGAA 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.8786,0.1214 false false 1 false true false TTLL10:254173|TTLL10-AS1:100506376 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.881997,0.118003 false false false SNV 0x0501000a0005150537000100 1 false 120 rs12092254 254173 1113121 true 358TTLL10 254173 __UNKNOWN__ hg19 1 1115954 1115954 + Nonsense_Mutation SNP C C T 191284590 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1115954C>T ENST00000379290.1 + 7 771 c.598C>T c.(598-600)Cga>Tga p.R200* TTLL10_ENST00000379289.1_Nonsense_Mutation_p.R200*|TTLL10_ENST00000379288.3_Nonsense_Mutation_p.R127*|TTLL10-AS1_ENST00000379317.1_5'Flank Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCAAGAGCCGAGACAGCTA 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.9992,0.0007987 false false 1 false false false TTLL10:254173 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000000605040436000100 1 false 135 rs191284590 254173 1115954 true 359TTLL10 254173 __UNKNOWN__ hg19 1 1120488 1120488 + Splice_Site SNP A A C 74475385 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120488A>C ENST00000379290.1 + 13 1573 c.1400A>C c.(1399-1401)aAg>aCg p.K467T TTLL10_ENST00000379289.1_Splice_Site_p.K467T|TTLL10_ENST00000379288.3_Missense_Mutation_p.K394T Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCACCCTCAAGGTGCGTCCA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.9782,0.02177 false false 1 false true false TTLL10:254173 false true false true true false false false false false false true false false false false false false false true false true 0 true 0 false 0.971564,0.028436 false false false SNV 0x050300000a0515043e000100 1 false 131 rs74475385 254173 1120488 true 360TTLL10 254173 __UNKNOWN__ hg19 1 1120489 1120489 + Splice_Site SNP G G A 142263062 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120489G>A ENST00000379290.1 + 13 1574 c.1401G>A c.(1399-1401)aaG>aaA p.K467K TTLL10_ENST00000379289.1_Splice_Site_p.K467K|TTLL10_ENST00000379288.3_Silent_p.K394K Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCCTCAAGGTGCGTCCAC 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.9998,0.0001997 false false 0 false false false TTLL10:254173 false true false true true false false false false false false false false false false false false false false true false true 0 false 0 true false false false SNV 0x050200000305040436000100 1 false 134 rs142263062 254173 1120489 true 361TTLL10 254173 __UNKNOWN__ hg19 1 1120489 1120489 + Splice_Site SNP G G A 142263062 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120489G>A ENST00000379290.1 + 13 1574 c.1401G>A c.(1399-1401)aaG>aaA p.K467K TTLL10_ENST00000379289.1_Splice_Site_p.K467K|TTLL10_ENST00000379288.3_Silent_p.K394K Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCCTCAAGGTGCGTCCAC 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.9998,0.0001997 false false 0 false false false TTLL10:254173 false true false true true false false false false false false false false false false false false false false true false true 0 false 0 true false false false SNV 0x050200000305040436000100 1 false 134 rs142263062 254173 1120489 true 362TTLL10 254173 __UNKNOWN__ hg19 1 1120494 1120494 + Intron SNP G G A 74046642 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120494G>A ENST00000379290.1 + c.e13+5G>A TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379288.3_Missense_Mutation_p.R396H Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCAAGGTGCGTCCACTGTGC 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.9972,0.002796 false false 1 false false false TTLL10:254173 true true true true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.996806,0.0031939 false false false SNV 0x050100080a0504053e000100 1 false 130 rs74046642 254173 1120494 true 363TTLL10 254173 __UNKNOWN__ hg19 1 1120503 1120503 + Intron SNP G G A 116251234 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120503G>A ENST00000379290.1 + c.e13+14G>A TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379288.3_Missense_Mutation_p.C399Y Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTCCACTGTGCCCTCCAGTC 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.9784,0.02157 false false 1 false true false TTLL10:254173 false true true true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.972113,0.0278865 false false false SNV 0x050100080a0515043e000100 1 false 132 rs116251234 254173 1120503 true 364TTLL10 254173 __UNKNOWN__ hg19 1 1120536 1120536 + Intron SNP G G A 77950429 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1120536G>A ENST00000379290.1 + c.e13+47G>A TTLL10_ENST00000379289.1_Intron|TTLL10_ENST00000379288.3_3'UTR Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTCGGGGCGGGGGTGTGTG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.9483,0.05172 false false 1 false true false TTLL10:254173 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.976578,0.0234219 false true false SNV 0x050100880005150536000100 1 false 131 rs77950429 254173 1120536 true 365TTLL10 254173 __UNKNOWN__ hg19 1 1121794 1121794 + Intron SNP G G A 11260549 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1121794G>A ENST00000379290.1 + c.e13+1305G>A TTLL10_ENST00000379289.1_Intron Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAACGTTCCGTCATATGGAT 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.7434,0.2566 false false 1 false true false TTLL10:254173 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.884917,0.115083 false false false SNV 0x050128080005150537000100 1 false 120 rs11260549 254173 1121794 true 366TTLL10 254173 __UNKNOWN__ hg19 1 1130727 1130727 + Intron SNP A A C 10907175 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1130727A>C ENST00000379290.1 + c.e14-1253A>C TTLL10_ENST00000379289.1_Intron Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase like 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTGCAAACAATTCAAATCT 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:26693 Approved gene with protein product protein-coding gene TTLL5 "tubulin tyrosine ligase-like family, member 5", "tubulin tyrosine ligase-like family member 10" FLJ36119 1p36.33 2015-11-19 2005-07-29 2015-11-19 AK093438 ENSG00000162571 15890843 NM_153254 779 Tubulin tyrosine ligase family CCDS8, CCDS44036 OTTHUMG00000000851 NM_001130045 Q6ZVT0 ENSG00000162571 uc010nyg.2 B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2 true false 0.8956,0.1044 false false 1 false true false TTLL10:254173 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.898104,0.101896 false false false SNV 0x05010008000515053f000101 1 false 120 rs10907175 254173 1130727 true 367TNFRSF18 8784 __UNKNOWN__ hg19 1 1138913 1138913 + 3'UTR SNP T T C 3819001 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1138913T>C ENST00000379268.2 - 5 TNFRSF18_ENST00000328596.6_3'UTR NM_148902.1 NP_683700.1 Q9Y5U5 TNR18_HUMAN TNF receptor superfamily member 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTATTGAAGGTCCCCTGCAGC 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(157;472 1934 13810 14591 35952) CH471183 HGNC:11914 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 18" AITR, GITR, CD357 1p36.33 2016-10-05 2016-06-28 AF125304 ENSG00000186891 9177197, 10037686 NM_004195 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS9, CCDS10, CCDS30552 OTTHUMG00000001414 603905 NM_004195 Q9Y5U5 ENSG00000186891 uc001add.4 B1AME1|O95851|Q5U0I4|Q9NYJ9 true false 0.8015,0.1985 false false 1 false true false TNFRSF18:8784 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.781922,0.218078 false true false SNV 0x05010080000515053f000100 1 false 107 rs3819001 8784 1138913 true 368TNFRSF18 8784 __UNKNOWN__ hg19 1 1139062 1139062 + 3'UTR SNP G G A 200799216 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139062G>A ENST00000379268.2 - 5 TNFRSF18_ENST00000328596.6_Missense_Mutation_p.S226L NM_148902.1 NP_683700.1 Q9Y5U5 TNR18_HUMAN TNF receptor superfamily member 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGGCCGCCGAACTGCATGG 0.685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(157;472 1934 13810 14591 35952) CH471183 HGNC:11914 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 18" AITR, GITR, CD357 1p36.33 2016-10-05 2016-06-28 AF125304 ENSG00000186891 9177197, 10037686 NM_004195 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS9, CCDS10, CCDS30552 OTTHUMG00000001414 603905 NM_004195 Q9Y5U5 ENSG00000186891 uc001add.4 B1AME1|O95851|Q5U0I4|Q9NYJ9 true false 0.9992,0.0007987 false false 1 false false false TNFRSF18:8784 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false true false SNV 0x050000800a05040436000100 1 false 137 rs200799216 8784 1139062 true 369TNFRSF18 8784 __UNKNOWN__ hg19 1 1139268 1139268 + Nonsense_Mutation SNP G G A 142584447 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139268G>A ENST00000379268.2 - 5 802 c.682C>T c.(682-684)Cga>Tga p.R228* TNFRSF18_ENST00000379265.5_Nonsense_Mutation_p.R221*|TNFRSF18_ENST00000486728.1_Nonsense_Mutation_p.R156*|TNFRSF18_ENST00000328596.6_Silent_p.S157S NM_148902.1 NP_683700.1 Q9Y5U5 TNR18_HUMAN TNF receptor superfamily member 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGCCGATCGCTCGCCCCGC 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(157;472 1934 13810 14591 35952) CH471183 HGNC:11914 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 18" AITR, GITR, CD357 1p36.33 2016-10-05 2016-06-28 AF125304 ENSG00000186891 9177197, 10037686 NM_004195 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS9, CCDS10, CCDS30552 OTTHUMG00000001414 603905 NM_004195 Q9Y5U5 ENSG00000186891 uc001add.4 B1AME1|O95851|Q5U0I4|Q9NYJ9 true false false false false false false TNFRSF18:8784 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 true 0.999107,0.000892918 false false false SNV 0x050000000705040402000100 1 false 134 rs142584447 8784 1139268 true 370TNFRSF18 8784 __UNKNOWN__ hg19 1 1139287 1139287 + Silent SNP G G A 199916456 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139287G>A ENST00000379268.2 - 5 783 c.663C>T c.(661-663)ccC>ccT p.P221P TNFRSF18_ENST00000379265.5_Silent_p.P214P|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.P151L|TNFRSF18_ENST00000486728.1_Silent_p.P149P NM_148902.1 NP_683700.1 Q9Y5U5 TNR18_HUMAN TNF receptor superfamily member 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCTTCCTCGGGGAACTGGC 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(157;472 1934 13810 14591 35952) CH471183 HGNC:11914 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 18" AITR, GITR, CD357 1p36.33 2016-10-05 2016-06-28 AF125304 ENSG00000186891 9177197, 10037686 NM_004195 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS9, CCDS10, CCDS30552 OTTHUMG00000001414 603905 NM_004195 Q9Y5U5 ENSG00000186891 uc001add.4 B1AME1|O95851|Q5U0I4|Q9NYJ9 true false 0.9986,0.001398,.,. false false 1 false false false TNFRSF18:8784 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 true 0.999863,0.000103029,3.4343e-005,. false false false SNV 0x050000000b05040436000100 1 false 137 rs199916456 8784 1139287 true 371TNFRSF18 8784 __UNKNOWN__ hg19 1 1139308 1139308 + Silent SNP G G A 201894449 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139308G>A ENST00000379268.2 - 5 762 c.642C>T c.(640-642)gaC>gaT p.D214D TNFRSF18_ENST00000379265.5_Silent_p.D207D|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.T144M|TNFRSF18_ENST00000486728.1_Silent_p.D142D NM_148902.1 NP_683700.1 Q9Y5U5 TNR18_HUMAN TNF receptor superfamily member 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTTCTGGCGTCTTCGGTCG 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(157;472 1934 13810 14591 35952) CH471183 HGNC:11914 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 18" AITR, GITR, CD357 1p36.33 2016-10-05 2016-06-28 AF125304 ENSG00000186891 9177197, 10037686 NM_004195 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS9, CCDS10, CCDS30552 OTTHUMG00000001414 603905 NM_004195 Q9Y5U5 ENSG00000186891 uc001add.4 B1AME1|O95851|Q5U0I4|Q9NYJ9 true false 0.9992,0.0007987,. false false 0 false false false TNFRSF18:8784 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 true 0.999863,0.000137372,. false false false SNV 0x050000000b05040426000100 1 false 137 rs201894449 8784 1139308 true 372TNFRSF18 8784 __UNKNOWN__ hg19 1 1139320 1139320 + Silent SNP C C T 200096730 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1139320C>T ENST00000379268.2 - 5 750 c.630G>A c.(628-630)ccG>ccA p.P210P TNFRSF18_ENST00000379265.5_Silent_p.P203P|TNFRSF18_ENST00000328596.6_Missense_Mutation_p.R140H|TNFRSF18_ENST00000486728.1_Silent_p.P138P NM_148902.1 NP_683700.1 Q9Y5U5 TNR18_HUMAN TNF receptor superfamily member 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCGGTCGACGGCGGCACCT 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(157;472 1934 13810 14591 35952) CH471183 HGNC:11914 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 18" AITR, GITR, CD357 1p36.33 2016-10-05 2016-06-28 AF125304 ENSG00000186891 9177197, 10037686 NM_004195 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS9, CCDS10, CCDS30552 OTTHUMG00000001414 603905 NM_004195 Q9Y5U5 ENSG00000186891 uc001add.4 B1AME1|O95851|Q5U0I4|Q9NYJ9 true false 0.9996,0.0003994 false false 0 false false false TNFRSF18:8784 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 true 0.999966,3.4343e-005 false false false SNV 0x050000000b05040426000100 1 false 137 rs200096730 8784 1139320 true 373TNFRSF18 8784 __UNKNOWN__ hg19 1 1141765 1141765 + Splice_Site SNP C C T 72894038 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1141765C>T ENST00000379268.2 - 1 307 c.187G>A c.(187-189)Ggc>Agc p.G63S TNFRSF18_ENST00000379265.5_Splice_Site_p.G63S|TNFRSF18_ENST00000328596.6_Splice_Site_p.G63S|TNFRSF18_ENST00000486728.1_5'Flank NM_148902.1 NP_683700.1 Q9Y5U5 TNR18_HUMAN TNF receptor superfamily member 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) tumor necrosis factor-activated receptor activity (GO:0005031) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTACTTACCCGGGTAATCG 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE GBM(157;472 1934 13810 14591 35952) CH471183 HGNC:11914 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 18" AITR, GITR, CD357 1p36.33 2016-10-05 2016-06-28 AF125304 ENSG00000186891 9177197, 10037686 NM_004195 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS9, CCDS10, CCDS30552 OTTHUMG00000001414 603905 NM_004195 Q9Y5U5 ENSG00000186891 uc001add.4 B1AME1|O95851|Q5U0I4|Q9NYJ9 true false 0.9976,0.002396 false false 1 false false false TNFRSF18:8784 true true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.99684,0.00315956 false false false SNV 0x050000000a0504053e000100 1 false 130 rs72894038 8784 1141765 true 374SDF4 51150 __UNKNOWN__ hg19 1 1153073 1153073 + Intron SNP G G A 199825378 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1153073G>A ENST00000360001.6 - c.e7+5C>T SDF4_ENST00000263741.7_Missense_Mutation_p.R342C|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAGCTCTGCGGGCGAGCGGG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L79912 HGNC:24188 Approved gene with protein product protein-coding gene Cab45 "calcium binding protein" 1p36.33 2014-11-19 ENSG00000078808 9254016, 8609160 NM_016176 863 EF-hand domain containing CCDS12, CCDS30553 OTTHUMG00000001812 614282 NM_016176 Q9BRK5 ENSG00000078808 uc001adi.5 B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 true false 0.9996,0.0003994 false false 0 false false false SDF4:51150 false true true true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.999966,3.4343e-005 false false false SNV 0x050100080a05040436000100 1 false 137 rs199825378 51150 1153073 true 375SDF4 51150 __UNKNOWN__ hg19 1 1153099 1153099 + Intron SNP G G A 139298872 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1153099G>A ENST00000360001.6 - c.e7+31C>T SDF4_ENST00000263741.7_Missense_Mutation_p.A333V|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCAGCGTCGCCTTTCCCCC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L79912 HGNC:24188 Approved gene with protein product protein-coding gene Cab45 "calcium binding protein" 1p36.33 2014-11-19 ENSG00000078808 9254016, 8609160 NM_016176 863 EF-hand domain containing CCDS12, CCDS30553 OTTHUMG00000001812 614282 NM_016176 Q9BRK5 ENSG00000078808 uc001adi.5 B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 true false 0.9996,0.0003994 false false 0 false false false SDF4:51150 false true true false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999073,0.000927261 false false false SNV 0x050000080a05040426000100 1 false 134 rs139298872 51150 1153099 true 376SDF4 51150 __UNKNOWN__ hg19 1 1153129 1153129 + Intron SNP C C T 72894044 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1153129C>T ENST00000360001.6 - c.e7+61G>A SDF4_ENST00000263741.7_Missense_Mutation_p.R323Q|TNFRSF4_ENST00000379236.3_5'Flank|TNFRSF4_ENST00000453580.1_5'Flank Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGGCCAGCCGCACGAAGTG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L79912 HGNC:24188 Approved gene with protein product protein-coding gene Cab45 "calcium binding protein" 1p36.33 2014-11-19 ENSG00000078808 9254016, 8609160 NM_016176 863 EF-hand domain containing CCDS12, CCDS30553 OTTHUMG00000001812 614282 NM_016176 Q9BRK5 ENSG00000078808 uc001adi.5 B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 true false 0.9946,0.005391 false false 1 false false false SDF4:51150 true true true true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.993028,0.00697163 false false false SNV 0x050100080a0504053e000100 1 false 130 rs72894044 51150 1153129 true 377SDF4 51150 __UNKNOWN__ hg19 1 1158277 1158277 + Intron SNP G G A 3813199 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1158277G>A ENST00000360001.6 - c.e4-347C>T SDF4_ENST00000263741.7_Intron|SDF4_ENST00000545427.1_Intron Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTACTCACGAGCCTACATG 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L79912 HGNC:24188 Approved gene with protein product protein-coding gene Cab45 "calcium binding protein" 1p36.33 2014-11-19 ENSG00000078808 9254016, 8609160 NM_016176 863 EF-hand domain containing CCDS12, CCDS30553 OTTHUMG00000001812 614282 NM_016176 Q9BRK5 ENSG00000078808 uc001adi.5 B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 true false 0.8758,0.1242 false false 1 false true false SDF4:51150 true true true true true false false false false false false false false false false true true false false false true false 0 true 0 false 0.871042,0.128958 false false false SNV 0x05012808000515053f000100 1 false 107 rs3813199 51150 1158277 true 378SDF4 51150 __UNKNOWN__ hg19 1 1159213 1159213 + Splice_Site SNP G G A 149289348 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1159213G>A ENST00000360001.6 - 3 725 c.462C>T c.(460-462)gaC>gaT p.D154D SDF4_ENST00000263741.7_Splice_Site_p.D154D|SDF4_ENST00000545427.1_Splice_Site_p.D154D Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACAGTACCGTCCCCGTCAG 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT L79912 HGNC:24188 Approved gene with protein product protein-coding gene Cab45 "calcium binding protein" 1p36.33 2014-11-19 ENSG00000078808 9254016, 8609160 NM_016176 863 EF-hand domain containing CCDS12, CCDS30553 OTTHUMG00000001812 614282 NM_016176 Q9BRK5 ENSG00000078808 uc001adi.5 B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 true false 0.9988,0.001198 false false 1 false false false SDF4:51150 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999141,0.000858575 false false false SNV 0x050000000305040436000100 1 false 134 rs149289348 51150 1159213 true 379SDF4 51150 __UNKNOWN__ hg19 1 1159213 1159213 + Splice_Site SNP G G A 149289348 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1159213G>A ENST00000360001.6 - 3 725 c.462C>T c.(460-462)gaC>gaT p.D154D SDF4_ENST00000263741.7_Splice_Site_p.D154D|SDF4_ENST00000545427.1_Splice_Site_p.D154D Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACAGTACCGTCCCCGTCAG 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT L79912 HGNC:24188 Approved gene with protein product protein-coding gene Cab45 "calcium binding protein" 1p36.33 2014-11-19 ENSG00000078808 9254016, 8609160 NM_016176 863 EF-hand domain containing CCDS12, CCDS30553 OTTHUMG00000001812 614282 NM_016176 Q9BRK5 ENSG00000078808 uc001adi.5 B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 true false 0.9988,0.001198 false false 1 false false false SDF4:51150 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999141,0.000858575 false false false SNV 0x050000000305040436000100 1 false 134 rs149289348 51150 1159213 true 380SDF4 51150 __UNKNOWN__ hg19 1 1163804 1163804 + Intron SNP C C T 7515488 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1163804C>T ENST00000360001.6 - c.e2-44G>A SDF4_ENST00000263741.7_Intron|SDF4_ENST00000545427.1_Intron|B3GALT6_ENST00000379198.2_5'Flank|SDF4_ENST00000459994.2_Intron Q9BRK5 CAB45_HUMAN stromal cell derived factor 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|cerebellum development (GO:0021549)|fat cell differentiation (GO:0045444)|response to ethanol (GO:0045471)|UV protection (GO:0009650)|zymogen granule exocytosis (GO:0070625) cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|late endosome (GO:0005770)|membrane (GO:0016020)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|identical protein binding (GO:0042802) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACAGGCGAGCGCACGCGGAC 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L79912 HGNC:24188 Approved gene with protein product protein-coding gene Cab45 "calcium binding protein" 1p36.33 2014-11-19 ENSG00000078808 9254016, 8609160 NM_016176 863 EF-hand domain containing CCDS12, CCDS30553 OTTHUMG00000001812 614282 NM_016176 Q9BRK5 ENSG00000078808 uc001adi.5 B1AME5|B1AME6|B2RDF1|B4DSM1|Q53G52|Q53HQ9|Q8NBQ3|Q96AA1|Q9NZP7|Q9UN53 true false 0.8131,0.1869 false false 1 false true true SDF4:51150 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.830792,0.169208 false false false SNV 0x05012808000517053f000100 1 false 116 rs7515488 51150 1163804 true 381FAM132A __UNKNOWN__ hg19 1 1178442 1178442 + Splice_Site SNP G G A 149401953 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1178442G>A ENST00000330388.2 - 6 763 c.731C>T c.(730-732)aCg>aTg p.T244M NM_001014980.2 NP_001014980.1 Q5T7M4 ADIPL_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCACTCACGTGTGGCGCTG 0.6882793017456359 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC089443 Q5EBL5 true false false false false false false FAM132A:388581 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05000402000100 1 false 134 rs149401953 1178442 false 382FAM132A __UNKNOWN__ hg19 1 1178848 1178848 + Nonsense_Mutation SNP G G A 115005664 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1178848G>A ENST00000330388.2 - 5 648 c.616C>T c.(616-618)Cag>Tag p.Q206* NM_001014980.2 NP_001014980.1 Q5T7M4 ADIPL_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGAGAACTGGAAGATGCCG 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC089443 Q5EBL5 true false 0.9968,0.003195 false false 1 false false false FAM132A:388581 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.993474,0.00652562 false false false SNV 0x050000000605040436000100 1 false 132 rs115005664 1178848 true 383FAM132A __UNKNOWN__ hg19 1 1179619 1179619 + Nonsense_Mutation SNP C C A 201741650 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1179619C>A ENST00000330388.2 - 3 363 c.331G>T c.(331-333)Gaa>Taa p.E111* NM_001014980.2 NP_001014980.1 Q5T7M4 ADIPL_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGTCACTTCTGCACCTGGA 0.6982543640897756 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC089443 Q5EBL5 true false false false false false false FAM132A:388581 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.43454e-005 false false false SNV 0x050000000605040402000100 1 false 137 rs201741650 1179619 true 384FAM132A __UNKNOWN__ hg19 1 1179762 1179762 + Splice_Site SNP G G A 149663992 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1179762G>A ENST00000330388.2 - 2 325 c.293C>T c.(292-294)cCg>cTg p.P98L NM_001014980.2 NP_001014980.1 Q5T7M4 ADIPL_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of gluconeogenesis (GO:0045721)|negative regulation of inflammatory response (GO:0050728)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of glucose import (GO:0046324) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGCTCACCGGCTTCTTGTC 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC089443 Q5EBL5 true false false false false false false FAM132A:388581 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.43454e-005 false false false SNV 0x050000000a05040402000100 1 false 134 rs149663992 1179762 true 385UBE2J2 118424 __UNKNOWN__ hg19 1 1203938 1203938 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1203938T>C ENST00000400930.4 - c.e2+566A>G UBE2J2_ENST00000349431.6_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000347370.2_Intron|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000339385.6_5'Flank|UBE2J2_ENST00000491779.1_Intron NM_194315.1 NP_919296.1 Q8N2K1 UB2J2_HUMAN ubiquitin conjugating enzyme E2 J2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein ubiquitination (GO:0016567)|response to unfolded protein (GO:0006986) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|pancreas(22) 178 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCACTCACTGGGCAGAGCA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:19268 Approved gene with protein product protein-coding gene "ubiquitin-conjugating enzyme E2, J2 (UBC6 homolog, yeast)", "ubiquitin-conjugating enzyme E2, J2" Ubc6p, NCUBE2 1p36.33 2016-03-14 2016-03-14 AF296658 ENSG00000160087 11278356 NM_058167 102 Ubiquitin conjugating enzymes E2 CCDS14, CCDS15, CCDS16 OTTHUMG00000001911 NM_058167 Q8N2K1 ENSG00000160087 uc001adp.4 A8MYC7|Q504T9|Q96N26|Q96T84 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 118424 false 386SCNN1D 6339 __UNKNOWN__ hg19 1 1211292 1211292 + 5'Flank SNP C C T 6685064 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1211292C>T ENST00000338555.2 + UBE2J2_ENST00000347370.2_5'Flank|UBE2J2_ENST00000348298.7_5'Flank|UBE2J2_ENST00000349431.6_5'Flank|UBE2J2_ENST00000360466.2_5'Flank|SCNN1D_ENST00000379116.5_5'Flank|UBE2J2_ENST00000400929.2_5'Flank|UBE2J2_ENST00000400930.4_5'Flank|RP5-902P8.10_ENST00000453732.1_RNA|UBE2J2_ENST00000491779.1_5'Flank P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) ATGTTATAGGCAGATTCAAAA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U38254 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.5695,0.4305 false false 1 false true false LOC101928895:101928895 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.693592,0.306408 false false false SNV 0x05010008000515053f000100 1 false 116 rs6685064 6339 1211292 true 387SCNN1D 6339 __UNKNOWN__ hg19 1 1216848 1216848 + Silent SNP G G A 34385715 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1216848G>A ENST00000379116.5 + 3 361 c.135G>A c.(133-135)tcG>tcA p.S45S SCNN1D_ENST00000338555.2_5'UTR|SCNN1D_ENST00000325425.8_5'Flank|SCNN1D_ENST00000400928.3_5'Flank|SCNN1D_ENST00000467651.2_5'Flank NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) AGCTGGGTTCGCCCCACCCCA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.9928,0.007188 false false 1 false false false SCNN1D:6339 true true false true true false false false false false false false false false false false false false false true true false 0 true 0 true 0.9932,0.00679992 false false false SNV 0x050100000305040536000100 1 false 126 rs34385715 6339 1216848 true 388SCNN1D 6339 __UNKNOWN__ hg19 1 1219456 1219456 + Silent SNP G G C 199854533 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1219456G>C ENST00000379116.5 + 5 676 c.450G>C c.(448-450)ggG>ggC p.G150G SCNN1D_ENST00000338555.2_Missense_Mutation_p.G18R|SCNN1D_ENST00000325425.8_Silent_p.G52G|SCNN1D_ENST00000400928.3_Missense_Mutation_p.G18R|SCNN1D_ENST00000467651.2_Intron NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) CACACGGGGGGGCTCTCACCT 0.685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.9988,0.001198 false false 1 false false false SCNN1D:6339 false true false false true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999347,0.000653101 false false false SNV 0x050000000305040426000100 1 false 137 rs199854533 6339 1219456 true 389SCNN1D 6339 __UNKNOWN__ hg19 1 1220954 1220954 + Silent SNP G G A 12751100 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1220954G>A ENST00000379116.5 + 6 694 c.468G>A c.(466-468)tcG>tcA p.S156S SCNN1D_ENST00000325425.8_Silent_p.S58S|SCNN1D_ENST00000338555.2_Intron|SCNN1D_ENST00000400928.3_Intron|SCNN1D_ENST00000467651.2_Intron NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) TGGGTAGATCGCCTGGGCCTG 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.5573,0.4427 false false 1 false true false SCNN1D:6339 true true true true true false false false false false false false false false false false false false false true false false 0 true 0 true 0.668315,0.331685 false false false SNV 0x05010008030515053e000100 1 false 121 rs12751100 6339 1220954 true 390SCNN1D 6339 __UNKNOWN__ hg19 1 1221530 1221530 + Silent SNP C C T 146792102 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1221530C>T ENST00000379116.5 + 7 1009 c.783C>T c.(781-783)gtC>gtT p.V261V SCNN1D_ENST00000338555.2_Silent_p.V97V|SCNN1D_ENST00000325425.8_Silent_p.V163V|SCNN1D_ENST00000400928.3_Silent_p.V97V NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) GAGCCCTGGTCGCGCTCTGCT 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.999,.,0.0009984 false false 0 false false false SCNN1D:6339 false true false true true false false false false false false false false false false false false false false true false true 0 false 0 true 0.998798,.,0.00120209 false false false SNV 0x050200000305040436000100 1 false 134 rs146792102 6339 1221530 true 391SCNN1D 6339 __UNKNOWN__ hg19 1 1221657 1221657 + Splice_Site SNP C C T 139294800 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1221657C>T ENST00000379116.5 + 7 1136 c.910C>T c.(910-912)Cgg>Tgg p.R304W SCNN1D_ENST00000338555.2_Splice_Site_p.R140W|SCNN1D_ENST00000325425.8_Splice_Site_p.R206W|SCNN1D_ENST00000400928.3_Splice_Site_p.R140W NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) GAACCCACGTCGGTGAGGGCC 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.9996,0.0003994 false false 1 false false false SCNN1D:6339 false true false false true false false false false false false true false false false false false false false true false true 0 false 0 false false false false SNV 0x050200000a05040426000100 1 false 137 rs139294800 6339 1221657 true 392SCNN1D 6339 __UNKNOWN__ hg19 1 1222220 1222220 + Silent SNP C C T 140233249 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1222220C>T ENST00000379116.5 + 8 1210 c.984C>T c.(982-984)aaC>aaT p.N328N SCNN1D_ENST00000338555.2_Silent_p.N164N|SCNN1D_ENST00000325425.8_Silent_p.N230N|SCNN1D_ENST00000400928.3_Silent_p.N164N NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) CCCTGTACAACGTCAACCTCA 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false false false false false false SCNN1D:6339 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 true 0.999966,.,3.4343e-005 false false false SNV 0x050200000b05040402000100 1 false 134 rs140233249 6339 1222220 true 393SCNN1D 6339 __UNKNOWN__ hg19 1 1222519 1222519 + Nonsense_Mutation SNP C C T 148588796 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1222519C>T ENST00000379116.5 + 9 1376 c.1150C>T c.(1150-1152)Cga>Tga p.R384* SCNN1D_ENST00000338555.2_Nonsense_Mutation_p.R220*|SCNN1D_ENST00000325425.8_Nonsense_Mutation_p.R286*|SCNN1D_ENST00000400928.3_Nonsense_Mutation_p.R220* NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) CTGCTTTTACCGAGGCTACAC 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.999,0.0009984 false false 1 false false false SCNN1D:6339 false true false true true false false false false false false false true false false false false false false true false true 0 true 0 false 0.998661,0.00133938 false false false SNV 0x050300000605040436000100 1 false 134 rs148588796 6339 1222519 true 394SCNN1D 6339 __UNKNOWN__ hg19 1 1222596 1222596 + Silent SNP C C T 146976973 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1222596C>T ENST00000379116.5 + 9 1453 c.1227C>T c.(1225-1227)ccC>ccT p.P409P SCNN1D_ENST00000338555.2_Silent_p.P245P|SCNN1D_ENST00000325425.8_Silent_p.P311P|SCNN1D_ENST00000400928.3_Silent_p.P245P NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) CCCTGCTGCCCGCGGCATGGG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false false false false false false SCNN1D:6339 false true false false false false false false false false false false false false false false false false false true false true 0 false 0 true 0.999038,0.000961671 false false false SNV 0x050200000305040402000100 1 false 134 rs146976973 6339 1222596 true 395SCNN1D 6339 __UNKNOWN__ hg19 1 1226777 1226777 + Silent SNP G G A 201221572 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1226777G>A ENST00000379116.5 + 18 2422 c.2196G>A c.(2194-2196)gcG>gcA p.A732A SCNN1D_ENST00000338555.2_Silent_p.A568A|SCNN1D_ENST00000325425.8_Silent_p.A634A|SCNN1D_ENST00000400928.3_Silent_p.A568A NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) TCCGCAGGGCGTGGTTCTCCT 0.7082294264339152 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false false false false false false SCNN1D:6339 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.99976,0.000240418 false false false SNV 0x050000000305040402000100 1 false 137 rs201221572 6339 1226777 true 396SCNN1D 6339 __UNKNOWN__ hg19 1 1226867 1226867 + Silent SNP G G A 200302126 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1226867G>A ENST00000379116.5 + 18 2512 c.2286G>A c.(2284-2286)acG>acA p.T762T SCNN1D_ENST00000338555.2_Silent_p.T598T|SCNN1D_ENST00000325425.8_Silent_p.T664T|SCNN1D_ENST00000400928.3_Silent_p.T598T NM_001130413.3 NP_001123885.2 P51172 SCNND_HUMAN sodium channel epithelial 1 delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transmembrane transport (GO:0034220)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085) actin cytoskeleton (GO:0015629)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) ligand-gated sodium channel activity (GO:0015280) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amiloride(DB00594)|Triamterene(DB00384) CAGGCGGCACGTCAGATGACC 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL162741 HGNC:10601 Approved gene with protein product protein-coding gene "sodium channel, nonvoltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta", "sodium channel, non-voltage-gated 1, delta subunit", "sodium channel, non voltage gated 1 delta subunit" ENaCdelta, dNaCh 1p36.33 2016-10-05 2016-02-05 U38254 ENSG00000162572 8661065, 26772908 NM_002978 185 Sodium channels epithelial CCDS44037 OTTHUMG00000002081 601328 NM_001130413 P51172 ENSG00000162572 uc001adt.2 A9Z1X6|B1PS44|Q08AQ3|Q09HT0|Q5T7L3|Q8NA24 true false 0.9996,0.0003994 false false 0 false false false SCNN1D:6339 false true false false true false false false false false false false false false false false false false false true false false 0 false 0 true 0.999622,0.000377799 false false false SNV 0x050000000305040426000100 1 false 137 rs200302126 6339 1226867 true 397ACAP3 116983 __UNKNOWN__ hg19 1 1227897 1227897 + 3'UTR SNP A A G 3737721 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1227897A>G ENST00000354700.5 - 24 ACAP3_ENST00000353662.3_3'UTR NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of ARF GTPase activity (GO:0032312) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCAGGGTCACAGGCAGCAG 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:16754 Approved gene with protein product protein-coding gene CENTB5 "centaurin, beta 5" KIAA1716 1p36.33 2016-10-05 2008-09-22 2008-09-22 AF411981 ENSG00000131584 NM_030649 403|682|395|1291 Ankyrin repeat domain containing|Pleckstrin homology domain containing|ArfGAPs|BAR-PH domain containing CCDS19 OTTHUMG00000002235 NM_030649 Q96P50 ENSG00000131584 uc001aeb.3 B1AMF5|Q5TA42|Q5TA43|Q86UT3|Q9BSR9|Q9C0E7 true false 0.772,0.228 false false 1 false true false SCNN1D:6339|ACAP3:116983 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.918916,0.0810839 false true false SNV 0x05010088000515053f000100 1 false 107 rs3737721 116983 1227897 true 398PUSL1 126789 __UNKNOWN__ hg19 1 1246013 1246013 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246013G>A ENST00000379031.5 + c.e6-1G>A c.e6-1 ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTTTTCCAGGAAGCTGCGG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 399PUSL1 126789 __UNKNOWN__ hg19 1 1246013 1246013 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246013G>A ENST00000379031.5 + c.e6-1G>A c.e6-1 ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTTTTCCAGGAAGCTGCGG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 400PUSL1 126789 __UNKNOWN__ hg19 1 1246013 1246013 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246013G>A ENST00000379031.5 + c.e6-1G>A c.e6-1 ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTTTTCCAGGAAGCTGCGG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 401PUSL1 126789 __UNKNOWN__ hg19 1 1246013 1246013 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246013G>A ENST00000379031.5 + c.e6-1G>A c.e6-1 ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTTTTCCAGGAAGCTGCGG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 402PUSL1 126789 __UNKNOWN__ hg19 1 1246068 1246068 + Splice_Site SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246068G>T ENST00000379031.5 + 6 776 c.699G>T c.(697-699)caG>caT p.Q233H ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTATAGACAGGTAGGCTCTG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 403PUSL1 126789 __UNKNOWN__ hg19 1 1246069 1246069 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246069G>A ENST00000379031.5 + c.e6+1G>A c.e6+1 ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATAGACAGGTAGGCTCTGT 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 404PUSL1 126789 __UNKNOWN__ hg19 1 1246069 1246069 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246069G>A ENST00000379031.5 + c.e6+1G>A c.e6+1 ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|PUSL1_ENST00000470520.1_Splice_Site NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATAGACAGGTAGGCTCTGT 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 405PUSL1 126789 __UNKNOWN__ hg19 1 1246450 1246450 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246450C>T ENST00000379031.5 + 7 938 c.861C>T c.(859-861)ctC>ctT p.L287L ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGAACCTCGGTAAGAAAA 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 406PUSL1 126789 __UNKNOWN__ hg19 1 1246450 1246450 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246450C>T ENST00000379031.5 + 7 938 c.861C>T c.(859-861)ctC>ctT p.L287L ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGAACCTCGGTAAGAAAA 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 407PUSL1 126789 __UNKNOWN__ hg19 1 1246451 1246451 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1246451G>A ENST00000379031.5 + 7 939 c.862G>A c.(862-864)Ggt>Agt p.G288S ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank NM_153339.1 NP_699170.1 Q8N0Z8 PUSL1_HUMAN pseudouridylate synthase-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033) pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGAACCTCGGTAAGAAAAA 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:26914 Approved gene with protein product protein-coding gene FLJ90811 1p36.33 2015-08-25 AK027721 ENSG00000169972 12477932 NM_153339 CCDS20 OTTHUMG00000003361 NM_153339 Q8N0Z8 ENSG00000169972 uc001aed.4 B4DP76|Q5TA41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126789 false 408CPSF3L __UNKNOWN__ hg19 1 1247626 1247626 + Silent SNP G G A 201688337 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247626G>A ENST00000435064.1 - 15 1670 c.1587C>T c.(1585-1587)cgC>cgT p.R529R CPSF3L_ENST00000421495.2_Silent_p.R271R|CPSF3L_ENST00000450926.2_Silent_p.R507R|CPSF3L_ENST00000411962.1_Silent_p.R431R|CPSF3L_ENST00000419704.1_Silent_p.R428R|CPSF3L_ENST00000540437.1_Silent_p.R535R|CPSF3L_ENST00000545578.1_Silent_p.R500R|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGTAGACGCGCAATGCCG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false 0.9994,0.000599 false false 0 false false false MIR6727:102465435|CPSF3L:54973 false true false false true false false false false false false false false false false false false true false true false false 0 false 0 true false false false SNV 0x050000040305040426000100 1 false 137 rs201688337 1247626 true 409CPSF3L __UNKNOWN__ hg19 1 1247820 1247820 + Splice_Site SNP G G A 148274722 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247820G>A ENST00000435064.1 - 14 1547 c.1464C>T c.(1462-1464)agC>agT p.S488S CPSF3L_ENST00000421495.2_Splice_Site_p.S230S|CPSF3L_ENST00000450926.2_Splice_Site_p.S466S|CPSF3L_ENST00000411962.1_Splice_Site_p.S390S|CPSF3L_ENST00000419704.1_Splice_Site_p.S387S|CPSF3L_ENST00000540437.1_Splice_Site_p.S494S|CPSF3L_ENST00000545578.1_Splice_Site_p.S459S|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCACTCACGCTGTCCTTCA 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false false false false false false MIR6727:102465435|CPSF3L:54973 false true true false false false false false false false false false false false false false false true false true false false 0 false 0 true 0.999863,0.000137372 false false false SNV 0x0500000c0305040402000100 1 false 134 rs148274722 1247820 true 410CPSF3L __UNKNOWN__ hg19 1 1247820 1247820 + Splice_Site SNP G G A 148274722 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247820G>A ENST00000435064.1 - 14 1547 c.1464C>T c.(1462-1464)agC>agT p.S488S CPSF3L_ENST00000421495.2_Splice_Site_p.S230S|CPSF3L_ENST00000450926.2_Splice_Site_p.S466S|CPSF3L_ENST00000411962.1_Splice_Site_p.S390S|CPSF3L_ENST00000419704.1_Splice_Site_p.S387S|CPSF3L_ENST00000540437.1_Splice_Site_p.S494S|CPSF3L_ENST00000545578.1_Splice_Site_p.S459S|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCACTCACGCTGTCCTTCA 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false false false false false false MIR6727:102465435|CPSF3L:54973 false true true false false false false false false false false false false false false false false true false true false false 0 false 0 true 0.999863,0.000137372 false false false SNV 0x0500000c0305040402000100 1 false 134 rs148274722 1247820 true 411CPSF3L __UNKNOWN__ hg19 1 1247826 1247826 + Silent SNP C C T 202118836 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1247826C>T ENST00000435064.1 - 14 1541 c.1458G>A c.(1456-1458)aaG>aaA p.K486K CPSF3L_ENST00000421495.2_Silent_p.K228K|CPSF3L_ENST00000450926.2_Silent_p.K464K|CPSF3L_ENST00000411962.1_Silent_p.K388K|CPSF3L_ENST00000419704.1_Silent_p.K385K|CPSF3L_ENST00000540437.1_Silent_p.K492K|CPSF3L_ENST00000545578.1_Silent_p.K457K|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACGCTGTCCTTCATGATCA 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false false false false false false MIR6727:102465435|CPSF3L:54973 false true true false false false false false false false false false false false false false false true false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x0500000c0305040402000100 1 false 137 rs202118836 1247826 true 412CPSF3L __UNKNOWN__ hg19 1 1248046 1248046 + Silent SNP C C T 147953341 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1248046C>T ENST00000435064.1 - 13 1412 c.1329G>A c.(1327-1329)acG>acA p.T443T CPSF3L_ENST00000421495.2_Silent_p.T185T|CPSF3L_ENST00000450926.2_Silent_p.T421T|CPSF3L_ENST00000411962.1_Silent_p.T345T|CPSF3L_ENST00000419704.1_Silent_p.T342T|CPSF3L_ENST00000540437.1_Silent_p.T449T|CPSF3L_ENST00000545578.1_Silent_p.T414T|ACAP3_ENST00000353662.3_5'Flank|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Intron NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGCGTCACCGTCTCGCCAT 0.6907730673316709 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false 0.9998,0.0001997 false false 0 false false false MIR6727:102465435|CPSF3L:54973 false true false false true false false false false false false false false false false false false false true true false true 0 false 0 true 0.999554,0.000446459 false false false SNV 0x050200020305040426000100 1 false 134 rs147953341 1248046 true 413CPSF3L __UNKNOWN__ hg19 1 1248329 1248329 + Splice_Site SNP G G A 56104163 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1248329G>A ENST00000435064.1 - 12 1215 c.1132C>T c.(1132-1134)Ctg>Ttg p.L378L CPSF3L_ENST00000421495.2_Splice_Site_p.L120L|CPSF3L_ENST00000450926.2_Splice_Site_p.L356L|CPSF3L_ENST00000411962.1_Splice_Site_p.L280L|CPSF3L_ENST00000419704.1_Splice_Site_p.L277L|CPSF3L_ENST00000540437.1_Splice_Site_p.L384L|CPSF3L_ENST00000545578.1_Splice_Site_p.L349L|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Splice_Site NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGACCTCCAGCTACAGAGGC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false 0.9982,0.001797 false false 1 false false false MIR6727:102465435|CPSF3L:54973 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.997321,0.00267876 false false false SNV 0x050300020305040436000100 1 false 129 rs56104163 1248329 true 414CPSF3L __UNKNOWN__ hg19 1 1248329 1248329 + Splice_Site SNP G G A 56104163 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1248329G>A ENST00000435064.1 - 12 1215 c.1132C>T c.(1132-1134)Ctg>Ttg p.L378L CPSF3L_ENST00000421495.2_Splice_Site_p.L120L|CPSF3L_ENST00000450926.2_Splice_Site_p.L356L|CPSF3L_ENST00000411962.1_Splice_Site_p.L280L|CPSF3L_ENST00000419704.1_Splice_Site_p.L277L|CPSF3L_ENST00000540437.1_Splice_Site_p.L384L|CPSF3L_ENST00000545578.1_Splice_Site_p.L349L|ACAP3_ENST00000354700.5_5'Flank|CPSF3L_ENST00000462432.1_Splice_Site NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGACCTCCAGCTACAGAGGC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false 0.9982,0.001797 false false 1 false false false MIR6727:102465435|CPSF3L:54973 false true false true true false false false false false false false false false false false false false true true false true 0 true 0 true 0.997321,0.00267876 false false false SNV 0x050300020305040436000100 1 false 129 rs56104163 1248329 true 415CPSF3L __UNKNOWN__ hg19 1 1249193 1249194 + Frame_Shift_Ins INS - - GCAA 752230074 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1249193_1249194insGCAA ENST00000435064.1 - 9 959 c.875_876insTTGC c.(874-876)aagfs p.K292fs CPSF3L_ENST00000421495.2_Frame_Shift_Ins_p.K34fs|CPSF3L_ENST00000450926.2_Frame_Shift_Ins_p.K270fs|CPSF3L_ENST00000411962.1_Frame_Shift_Ins_p.K194fs|CPSF3L_ENST00000419704.1_Frame_Shift_Ins_p.K191fs|CPSF3L_ENST00000540437.1_Frame_Shift_Ins_p.K298fs|CPSF3L_ENST00000545578.1_Frame_Shift_Ins_p.K263fs|CPSF3L_ENST00000462432.1_Intron NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACGAAAGTCTTGCGGATCT 0.6325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false false false false false false MIR6727:102465435|CPSF3L:54973 false true false false false false false false false false true false false false false false false false true true false false 0 false 0 false false false false DIV 0x050000021205000402000200 1 false 144 rs752230074 1249193 false 416CPSF3L __UNKNOWN__ hg19 1 1250794 1250794 + Nonsense_Mutation SNP G G A 373723769 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1250794G>A ENST00000435064.1 - 6 636 c.553C>T c.(553-555)Cga>Tga p.R185* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R163*|CPSF3L_ENST00000411962.1_Nonsense_Mutation_p.R87*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R84*|CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R191*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.R156*|CPSF3L_ENST00000462432.1_Intron NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAAGTGTCGGTCTGGGGTC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false false false false false false CPSF3L:54973 false true false false false false false false false false false true true false false false false false false true false true 0 false 0 false false false false SNV 0x050200000e05040402000100 1 false 138 rs373723769 1250794 true 417CPSF3L __UNKNOWN__ hg19 1 1254255 1254255 + Intron SNP G G A 62623580 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254255G>A ENST00000435064.1 - c.e4-421C>T CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|RP5-890O3.9_ENST00000444968.1_5'Flank|CPSF3L_ENST00000462432.1_5'Flank NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCTTCCCTGACCCACACCC 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false 0.9373,0.0627 false false 1 false true false CPSF3L:54973 false true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.946974,0.0530256 false false false SNV 0x0501000a0005150436000100 1 false 129 rs62623580 1254255 true 418CPSF3L __UNKNOWN__ hg19 1 1254678 1254678 + Nonsense_Mutation SNP G G A 200207309 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254678G>A ENST00000435064.1 - 4 510 c.427C>T c.(427-429)Cag>Tag p.Q143* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.Q143*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.Q149*|CPSF3L_ENST00000545578.1_Nonsense_Mutation_p.Q114*|RP5-890O3.9_ENST00000444968.1_5'Flank|CPSF3L_ENST00000462432.1_5'Flank NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGACCTGGACCGTCTGG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false false false false false false CPSF3L:54973 false true true false false false false false false false false false true false false false false false true true false true 0 false 0 false false false false SNV 0x0502000a0605000402000100 1 false 137 rs200207309 1254678 false 419CPSF3L __UNKNOWN__ hg19 1 1254694 1254694 + Silent SNP G G A 145964828 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1254694G>A ENST00000435064.1 - 4 494 c.411C>T c.(409-411)caC>caT p.H137H CPSF3L_ENST00000450926.2_Silent_p.H137H|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Silent_p.H143H|CPSF3L_ENST00000545578.1_Silent_p.H108H|RP5-890O3.9_ENST00000444968.1_5'Flank|CPSF3L_ENST00000462432.1_5'Flank NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGGTGGAGGTGGACAGCCA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false false false false false false CPSF3L:54973 false true true false false false false false false false false false false false false false false false true true false true 0 false 0 true false false false SNV 0x0502000a0305040402000100 1 false 134 rs145964828 1254694 true 420CPSF3L __UNKNOWN__ hg19 1 1256453 1256453 + Nonsense_Mutation SNP G G A 200498230 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1256453G>A ENST00000435064.1 - 2 132 c.49C>T c.(49-51)Cga>Tga p.R17* CPSF3L_ENST00000450926.2_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000419704.1_Nonsense_Mutation_p.R17*|CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000540437.1_Nonsense_Mutation_p.R23*|CPSF3L_ENST00000545578.1_5'UTR|GLTPD1_ENST00000343938.4_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank|CPSF3L_ENST00000462432.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCAGCTTCGGCCCACGTCC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false 0.9998,0.0001997 false false 0 false false false CPSF3L:54973 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999897,0.000103029 false false true SNV 0x050200480605040436000100 1 false 137 rs200498230 1256453 true 421CPSF3L __UNKNOWN__ hg19 1 1258246 1258246 + Intron SNP A A C 3845293 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1258246A>C ENST00000435064.1 - c.e1-1715T>G CPSF3L_ENST00000421495.2_Intron|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Intron|CPSF3L_ENST00000419704.1_Intron|CPSF3L_ENST00000540437.1_Intron|CPSF3L_ENST00000545578.1_Intron|GLTPD1_ENST00000343938.4_5'Flank|RP5-890O3.9_ENST00000444968.1_5'Flank|GLTPD1_ENST00000464957.1_5'Flank NM_017871.5 NP_060341.2 Q5TA45 INT11_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ snRNA processing (GO:0016180) blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|integrator complex (GO:0032039) hydrolase activity (GO:0016787) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGCGGTGAAACAGGACTT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533557 A8K5S2|B3KPR3|B4DM87|G3V1S5|Q5TA46|Q5TA48|Q5TA52|Q5TA53|Q5TA54|Q7L3D7|Q96HY1|Q9BW36|Q9H0F9|Q9H8R5|Q9HAA6|Q9NWX9 true false 0.2829,0.7171,. false false 1 false true true CPTP:80772|CPSF3L:54973 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x0501000a0005170537000100 1 false 108 rs3845293 1258246 true 422TAS1R3 83756 __UNKNOWN__ hg19 1 1264539 1264539 + 5'Flank SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1264539G>C ENST00000339381.5 + CPSF3L_ENST00000411962.1_5'Flank|CPSF3L_ENST00000419704.1_5'Flank|CPSF3L_ENST00000421495.2_5'Flank|CPSF3L_ENST00000435064.1_5'Flank|CPSF3L_ENST00000450926.2_5'Flank|CPSF3L_ENST00000540437.1_5'Flank|CPSF3L_ENST00000545578.1_5'Flank NM_152228.1 NP_689414.1 Q7RTX0 TS1R3_HUMAN taste 1 receptor member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGAGAGAGACAGAGTCAC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK000152 HGNC:15661 Approved gene with protein product protein-coding gene "taste receptor, type 1, member 3" T1R3 1p36.33 2016-10-05 2015-12-16 AC026283 ENSG00000169962 11319557 1161 Taste 1 receptors CCDS30556 OTTHUMG00000003071 605865 NM_152228 Q7RTX0 ENSG00000169962 uc010nyk.3 Q5TA49|Q8NGW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 83756 false 423DVL1 1855 __UNKNOWN__ hg19 1 1275882 1275882 + Splice_Site SNP G G A 148942048 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1275882G>A ENST00000378888.5 - 6 892 c.607C>T c.(607-609)Ctc>Ttc p.L203F DVL1_ENST00000378891.5_Splice_Site_p.L203F O14640 DVL1_HUMAN dishevelled segment polarity protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCTGCTGAGCCTGGGAACA 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AL139287 HGNC:3084 Approved gene with protein product protein-coding gene "dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)" 1p36.33 2016-10-05 2013-05-22 AF006011 ENSG00000107404 8817329 NM_004421 505|1220 Dishevelled segment polarity proteins|PDZ domain containing CCDS22, CCDS81252 OTTHUMG00000003069 601365 NM_004421 O14640 ENSG00000107404 uc002quu.4 Q5TA33|Q5TA35 true false 0.9992,0.0007987,. false false 1 false false false MIR6808:102466740|DVL1:1855 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.998901,0.00106463,3.4343e-005 false false false SNV 0x050000020a05040436000100 1 false 134 rs148942048 1855 1275882 true 424DVL1 1855 __UNKNOWN__ hg19 1 1275883 1275883 + Splice_Site SNP C C T 143175544 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1275883C>T ENST00000378888.5 - 6 891 c.606G>A c.(604-606)agG>agA p.R202R DVL1_ENST00000378891.5_Splice_Site_p.R202R O14640 DVL1_HUMAN dishevelled segment polarity protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGCTGAGCCTGGGAACAG 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL139287 HGNC:3084 Approved gene with protein product protein-coding gene "dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)" 1p36.33 2016-10-05 2013-05-22 AF006011 ENSG00000107404 8817329 NM_004421 505|1220 Dishevelled segment polarity proteins|PDZ domain containing CCDS22, CCDS81252 OTTHUMG00000003069 601365 NM_004421 O14640 ENSG00000107404 uc002quu.4 Q5TA33|Q5TA35 true false 0.9988,0.001198 false false 1 false false false MIR6808:102466740|DVL1:1855 false true false true true false false false false false false false false false false false false false true true false false 0 false 0 true 0.999038,0.000961605 false false false SNV 0x050000020305040436000100 1 false 134 rs143175544 1855 1275883 true 425DVL1 1855 __UNKNOWN__ hg19 1 1275883 1275883 + Splice_Site SNP C C T 143175544 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1275883C>T ENST00000378888.5 - 6 891 c.606G>A c.(604-606)agG>agA p.R202R DVL1_ENST00000378891.5_Splice_Site_p.R202R O14640 DVL1_HUMAN dishevelled segment polarity protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGCTGAGCCTGGGAACAG 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL139287 HGNC:3084 Approved gene with protein product protein-coding gene "dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)" 1p36.33 2016-10-05 2013-05-22 AF006011 ENSG00000107404 8817329 NM_004421 505|1220 Dishevelled segment polarity proteins|PDZ domain containing CCDS22, CCDS81252 OTTHUMG00000003069 601365 NM_004421 O14640 ENSG00000107404 uc002quu.4 Q5TA33|Q5TA35 true false 0.9988,0.001198 false false 1 false false false MIR6808:102466740|DVL1:1855 false true false true true false false false false false false false false false false false false false true true false false 0 false 0 true 0.999038,0.000961605 false false false SNV 0x050000020305040436000100 1 false 134 rs143175544 1855 1275883 true 426DVL1 1855 __UNKNOWN__ hg19 1 1277184 1277184 + Splice_Site SNP G G A 201343862 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1277184G>A ENST00000378888.5 - 5 753 c.468C>T c.(466-468)gcC>gcT p.A156A DVL1_ENST00000378891.5_Splice_Site_p.A156A O14640 DVL1_HUMAN dishevelled segment polarity protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTCCGGGCGGCTGTGGGGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL139287 HGNC:3084 Approved gene with protein product protein-coding gene "dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)" 1p36.33 2016-10-05 2013-05-22 AF006011 ENSG00000107404 8817329 NM_004421 505|1220 Dishevelled segment polarity proteins|PDZ domain containing CCDS22, CCDS81252 OTTHUMG00000003069 601365 NM_004421 O14640 ENSG00000107404 uc002quu.4 Q5TA33|Q5TA35 true false 0.998,0.001997 false false 1 false false false DVL1:1855 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000000305040436000100 1 false 137 rs201343862 1855 1277184 true 427DVL1 1855 __UNKNOWN__ hg19 1 1277184 1277184 + Splice_Site SNP G G A 201343862 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1277184G>A ENST00000378888.5 - 5 753 c.468C>T c.(466-468)gcC>gcT p.A156A DVL1_ENST00000378891.5_Splice_Site_p.A156A O14640 DVL1_HUMAN dishevelled segment polarity protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTCCGGGCGGCTGTGGGGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL139287 HGNC:3084 Approved gene with protein product protein-coding gene "dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)" 1p36.33 2016-10-05 2013-05-22 AF006011 ENSG00000107404 8817329 NM_004421 505|1220 Dishevelled segment polarity proteins|PDZ domain containing CCDS22, CCDS81252 OTTHUMG00000003069 601365 NM_004421 O14640 ENSG00000107404 uc002quu.4 Q5TA33|Q5TA35 true false 0.998,0.001997 false false 1 false false false DVL1:1855 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000000305040436000100 1 false 137 rs201343862 1855 1277184 true 428DVL1 1855 __UNKNOWN__ hg19 1 1287127 1287127 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1287127G>A ENST00000378888.5 - DVL1_ENST00000378891.5_5'Flank O14640 DVL1_HUMAN dishevelled segment polarity protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon extension (GO:0048675)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|collateral sprouting (GO:0048668)|convergent extension (GO:0060026)|convergent extension involved in neural plate elongation (GO:0022007)|cytoplasmic microtubule organization (GO:0031122)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|negative regulation of protein binding (GO:0032091)|negative regulation of protein kinase activity (GO:0006469)|neural tube development (GO:0021915)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prepulse inhibition (GO:0060134)|protein localization to microtubule (GO:0035372)|protein localization to nucleus (GO:0034504)|receptor clustering (GO:0043113)|regulation of neurotransmitter levels (GO:0001505)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|social behavior (GO:0035176)|synapse organization (GO:0050808)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071) axon (GO:0030424)|cell cortex (GO:0005938)|clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|growth cone (GO:0030426)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202) enzyme binding (GO:0019899)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|Rac GTPase binding (GO:0048365) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCAGGCAGGAAGACCTAAG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL139287 HGNC:3084 Approved gene with protein product protein-coding gene "dishevelled 1 (homologous to Drosophila dsh)", "dishevelled, dsh homolog 1 (Drosophila)" 1p36.33 2016-10-05 2013-05-22 AF006011 ENSG00000107404 8817329 NM_004421 505|1220 Dishevelled segment polarity proteins|PDZ domain containing CCDS22, CCDS81252 OTTHUMG00000003069 601365 NM_004421 O14640 ENSG00000107404 uc002quu.4 Q5TA33|Q5TA35 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1855 false 429Unknown __UNKNOWN__ hg19 1 1305561 1305561 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1305561C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATGGCTTCCCGGCAAGTTAA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 430AURKAIP1 54998 __UNKNOWN__ hg19 1 1309583 1309583 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1309583G>A ENST00000338370.3 - 2 696 c.295C>T c.(295-297)Caa>Taa p.Q99* AURKAIP1_ENST00000338338.5_Nonsense_Mutation_p.Q99*|AURKAIP1_ENST00000378853.3_Nonsense_Mutation_p.Q99*|AURKAIP1_ENST00000321751.5_Nonsense_Mutation_p.Q99* Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862) intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(1) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTAGGATTGCGGTGGAGCC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC062333 HGNC:24114 Approved gene with protein product protein-coding gene AKIP, AIP, FLJ20608 1p36.33 2014-11-18 ENSG00000175756 12244051 NM_017900 CCDS25 OTTHUMG00000001413 609183 NM_001127229 Q9NWT8 ENSG00000175756 uc001afc.3 Q5TA36|Q8TBD3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54998 false 431RP4-758J18.2 __UNKNOWN__ hg19 1 1335302 1335302 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1335302C>T ENST00000448629.2 + c.e1+233C>T RP4-758J18.2_ENST00000444362.1_Intron|RP4-758J18.2_ENST00000576232.1_Intron|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000453521.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACACTCAGCCCCTGGGGAGA 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 432RP4-758J18.2 __UNKNOWN__ hg19 1 1335790 1335790 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1335790A>G ENST00000448629.2 + c.e2+107A>G RP4-758J18.2_ENST00000576232.1_3'UTR|RP4-758J18.2_ENST00000444362.1_Intron|CCNL2_ENST00000400809.3_5'Flank|CCNL2_ENST00000408918.4_5'Flank|CCNL2_ENST00000408952.5_5'Flank|RP4-758J18.2_ENST00000453521.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGCCAGTAACTGCCCAGC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 433MRPL20 55052 __UNKNOWN__ hg19 1 1341171 1341171 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1341171C>T ENST00000344843.7 - c.e3-18G>A MRPL20_ENST00000482352.1_Nonsense_Mutation_p.W98*|MRPL20_ENST00000493287.1_Intron|RN7SL657P_ENST00000582431.1_5'Flank|RP4-758J18.13_ENST00000607307.1_5'Flank NM_017971.3 NP_060441.2 Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ translation (GO:0006412) mitochondrial ribosome (GO:0005761) poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735) breast(11)|large_intestine(11)|oesophagus(1) 23 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGTGGGACCCACATACTCA 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:14478 Approved gene with protein product protein-coding gene FLJ10024 1p36.33 2016-10-05 AB049644 ENSG00000242485 NM_017971 646 Mitochondrial ribosomal proteins CCDS26 OTTHUMG00000002916 611833 NM_001318485 Q9BYC9 ENSG00000242485 uc001afo.5 B2RE41|B7Z746 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55052 false 434ANKRD65 441869 __UNKNOWN__ hg19 1 1354515 1354515 + 3'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1354515C>G ENST00000520296.1 - 3 ANKRD65_ENST00000427211.1_3'UTR|ANKRD65_ENST00000537107.1_Missense_Mutation_p.E389Q|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank NM_001243536.1 NP_001230465.1 E5RJM6 ANR65_HUMAN ankyrin repeat domain 65 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTCCTTCTCCCCCCCTCCA 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC094869 HGNC:42950 Approved gene with protein product protein-coding gene 1p36.33 2013-01-10 ENSG00000235098 403 Ankyrin repeat domain containing CCDS55558, CCDS57962, CCDS57963 OTTHUMG00000002911 NM_001145210 E5RJM6 ENSG00000235098 uc010nyo.3 J3KR93 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 441869 false 435ANKRD65 441869 __UNKNOWN__ hg19 1 1354538 1354538 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1354538G>A ENST00000520296.1 - 3 ANKRD65_ENST00000427211.1_3'UTR|ANKRD65_ENST00000442470.1_3'UTR|ANKRD65_ENST00000537107.1_Missense_Mutation_p.A381V|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank NM_001243536.1 NP_001230465.1 E5RJM6 ANR65_HUMAN ankyrin repeat domain 65 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCAGGCAGCGCCTGGGGCAG 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC094869 HGNC:42950 Approved gene with protein product protein-coding gene 1p36.33 2013-01-10 ENSG00000235098 403 Ankyrin repeat domain containing CCDS55558, CCDS57962, CCDS57963 OTTHUMG00000002911 NM_001145210 E5RJM6 ENSG00000235098 uc010nyo.3 J3KR93 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 441869 false 436ANKRD65 441869 __UNKNOWN__ hg19 1 1354844 1354844 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1354844C>T ENST00000520296.1 - 3 ANKRD65_ENST00000427211.1_Missense_Mutation_p.E99K|ANKRD65_ENST00000442470.1_Missense_Mutation_p.E99K|ANKRD65_ENST00000537107.1_Missense_Mutation_p.R279Q|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank NM_001243536.1 NP_001230465.1 E5RJM6 ANR65_HUMAN ankyrin repeat domain 65 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGTGTCCTCGGGCGGCAGC 0.6882793017456359 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC094869 HGNC:42950 Approved gene with protein product protein-coding gene 1p36.33 2013-01-10 ENSG00000235098 403 Ankyrin repeat domain containing CCDS55558, CCDS57962, CCDS57963 OTTHUMG00000002911 NM_001145210 E5RJM6 ENSG00000235098 uc010nyo.3 J3KR93 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 441869 false 437ANKRD65 441869 __UNKNOWN__ hg19 1 1354920 1354920 + 3'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1354920C>A ENST00000520296.1 - 3 ANKRD65_ENST00000427211.1_Missense_Mutation_p.R73S|ANKRD65_ENST00000442470.1_Missense_Mutation_p.R73S|ANKRD65_ENST00000537107.1_Missense_Mutation_p.V254L|ANKRD65_ENST00000454272.1_Intron|RP4-758J18.7_ENST00000428932.1_5'Flank NM_001243536.1 NP_001230465.1 E5RJM6 ANR65_HUMAN ankyrin repeat domain 65 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCAGCAGCACCTCAATGTCC 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC094869 HGNC:42950 Approved gene with protein product protein-coding gene 1p36.33 2013-01-10 ENSG00000235098 403 Ankyrin repeat domain containing CCDS55558, CCDS57962, CCDS57963 OTTHUMG00000002911 NM_001145210 E5RJM6 ENSG00000235098 uc010nyo.3 J3KR93 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 441869 false 438VWA1 64856 __UNKNOWN__ hg19 1 1366830 1366830 + 5'Flank SNP A A G 873927 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1366830A>G ENST00000338660.5 + VWA1_ENST00000404702.3_5'Flank|VWA1_ENST00000476993.1_5'Flank|RP4-758J18.10_ENST00000417917.1_RNA Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614) breast(11)|large_intestine(11) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTTCAGGACCCTGGGTCC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:30910 Approved gene with protein product protein-coding gene FLJ22215, VWA-1, WARP 1p36.33 2016-04-25 BC059409 ENSG00000179403 14527666, 12062410 NM_022834 555 Fibronectin type III domain containing CCDS27, CCDS28 OTTHUMG00000002975 611901 NM_022834 Q6PCB0 ENSG00000179403 uc001afs.4 A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5 true false 0.3157,0.6843 false false 1 false true false LOC102724312:102724312 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.497733,0.502267 false false false SNV 0x050100080005150537000100 1 false 92 rs873927 64856 1366830 true 439VWA1 64856 __UNKNOWN__ hg19 1 1372743 1372743 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1372743C>T ENST00000476993.1 + 2 588 c.510C>T c.(508-510)acC>acT p.T170T VWA1_ENST00000338660.5_Missense_Mutation_p.R39W|VWA1_ENST00000404702.3_5'UTR|RP4-758J18.10_ENST00000417917.1_5'Flank NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614) breast(11)|large_intestine(11) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTCAGCACCGGCCGAGGCA 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:30910 Approved gene with protein product protein-coding gene FLJ22215, VWA-1, WARP 1p36.33 2016-04-25 BC059409 ENSG00000179403 14527666, 12062410 NM_022834 555 Fibronectin type III domain containing CCDS27, CCDS28 OTTHUMG00000002975 611901 NM_022834 Q6PCB0 ENSG00000179403 uc001afs.4 A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64856 false 440VWA1 64856 __UNKNOWN__ hg19 1 1372773 1372773 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1372773C>T ENST00000476993.1 + 2 618 c.540C>T c.(538-540)gcC>gcT p.A180A VWA1_ENST00000338660.5_Missense_Mutation_p.R49C|VWA1_ENST00000404702.3_5'UTR|RP4-758J18.10_ENST00000417917.1_5'Flank NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ behavioral response to pain (GO:0048266)|extracellular matrix organization (GO:0030198) basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interstitial matrix (GO:0005614) breast(11)|large_intestine(11) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGTCAGCCGCTGCCTCAG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:30910 Approved gene with protein product protein-coding gene FLJ22215, VWA-1, WARP 1p36.33 2016-04-25 BC059409 ENSG00000179403 14527666, 12062410 NM_022834 555 Fibronectin type III domain containing CCDS27, CCDS28 OTTHUMG00000002975 611901 NM_022834 Q6PCB0 ENSG00000179403 uc001afs.4 A8K692|B3KUA1|E9PB53|Q7L5D7|Q9H6J5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64856 false 441ATAD3C 219293 __UNKNOWN__ hg19 1 1388268 1388268 + Intron SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1388268C>A ENST00000378785.2 + c.e3+454C>A NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP binding (GO:0005524) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAGAAAACCCTGAGAGTT 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC101212 HGNC:32151 Approved gene with protein product protein-coding gene FLJ34599 1p36.33 2015-09-11 2007-02-08 AK091918 ENSG00000215915 NM_001039211 413 AAA ATPases CCDS44039 OTTHUMG00000000531 617227 NM_001039211 Q5T2N8 ENSG00000215915 uc001aft.2 Q8N1Z5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 219293 false 442ATAD3C 219293 __UNKNOWN__ hg19 1 1396296 1396296 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1396296C>T ENST00000378785.2 + 10 1974 c.979C>T c.(979-981)Cgg>Tgg p.R327W NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP binding (GO:0005524) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAGGAAAGCGGTAAGTGTC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC101212 HGNC:32151 Approved gene with protein product protein-coding gene FLJ34599 1p36.33 2015-09-11 2007-02-08 AK091918 ENSG00000215915 NM_001039211 413 AAA ATPases CCDS44039 OTTHUMG00000000531 617227 NM_001039211 Q5T2N8 ENSG00000215915 uc001aft.2 Q8N1Z5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 219293 false 443ATAD3C 219293 __UNKNOWN__ hg19 1 1396297 1396297 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1396297G>A ENST00000378785.2 + 10 1975 c.980G>A c.(979-981)cGg>cAg p.R327Q NM_001039211.2 NP_001034300.2 Q5T2N8 ATD3C_HUMAN ATPase family, AAA domain containing 3C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP binding (GO:0005524) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGAAAGCGGTAAGTGTCC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC101212 HGNC:32151 Approved gene with protein product protein-coding gene FLJ34599 1p36.33 2015-09-11 2007-02-08 AK091918 ENSG00000215915 NM_001039211 413 AAA ATPases CCDS44039 OTTHUMG00000000531 617227 NM_001039211 Q5T2N8 ENSG00000215915 uc001aft.2 Q8N1Z5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 219293 false 444ATAD3B 83858 __UNKNOWN__ hg19 1 1425658 1425658 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1425658C>T ENST00000308647.7 + 14 1475 c.1359C>T c.(1357-1359)agC>agT p.S453S NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524) breast(11)|central_nervous_system(22)|large_intestine(11) 44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTGGCCAGCAATCTGCCTG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24007 Approved gene with protein product protein-coding gene TOB3, KIAA1273 1p36.33 2015-09-11 2007-02-08 AL834179 ENSG00000160072 10574462 NM_031921 413 AAA ATPases CCDS30 OTTHUMG00000000577 612317 NM_001317238 Q5T9A4 ENSG00000160072 uc001afv.4 A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 83858 false 445ATAD3B 83858 __UNKNOWN__ hg19 1 1425700 1425700 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1425700T>C ENST00000308647.7 + 14 1517 c.1401T>C c.(1399-1401)atT>atC p.I467I NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524) breast(11)|central_nervous_system(22)|large_intestine(11) 44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGCCGCATTGACGTGATGG 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24007 Approved gene with protein product protein-coding gene TOB3, KIAA1273 1p36.33 2015-09-11 2007-02-08 AL834179 ENSG00000160072 10574462 NM_031921 413 AAA ATPases CCDS30 OTTHUMG00000000577 612317 NM_001317238 Q5T9A4 ENSG00000160072 uc001afv.4 A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 83858 false 446ATAD3B 83858 __UNKNOWN__ hg19 1 1430993 1430993 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1430993C>T ENST00000308647.7 + 16 1859 c.1743C>T c.(1741-1743)gtC>gtT p.V581V NM_031921.4 NP_114127.3 Q5T9A4 ATD3B_HUMAN ATPase family, AAA domain containing 3B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrial inner membrane (GO:0005743) ATP binding (GO:0005524) breast(11)|central_nervous_system(22)|large_intestine(11) 44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGCGGGGTCGAGCACCCCC 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:24007 Approved gene with protein product protein-coding gene TOB3, KIAA1273 1p36.33 2015-09-11 2007-02-08 AL834179 ENSG00000160072 10574462 NM_031921 413 AAA ATPases CCDS30 OTTHUMG00000000577 612317 NM_001317238 Q5T9A4 ENSG00000160072 uc001afv.4 A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 83858 false 447ATAD3A 55210 __UNKNOWN__ hg19 1 1447325 1447325 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1447325G>A ENST00000378755.5 + ATAD3A_ENST00000378756.3_5'Flank|ATAD3A_ENST00000536055.1_5'Flank NM_018188.3 NP_060658.3 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) ATP binding (GO:0005524) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGACGCTGCCTTGGGTTC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GU189416 HGNC:25567 Approved gene with protein product protein-coding gene FLJ10709 1p36.33 2017-11-27 2007-02-08 AK025865 ENSG00000197785 28158749 NM_018188 413 AAA ATPases CCDS31, CCDS53259, CCDS53260 OTTHUMG00000000575 612316 NM_001170535 Q9NVI7 ENSG00000197785 uc001aga.3 B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55210 false 448ATAD3A 55210 __UNKNOWN__ hg19 1 1450947 1450947 + Intron SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1450947A>C ENST00000378756.3 + c.e2-445A>C ATAD3A_ENST00000378755.5_Intron|ATAD3A_ENST00000536055.1_Intron NM_001170535.1 NP_001164006.1 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) ATP binding (GO:0005524) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCCTCGTCACCCTGAGCTT 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GU189416 HGNC:25567 Approved gene with protein product protein-coding gene FLJ10709 1p36.33 2017-11-27 2007-02-08 AK025865 ENSG00000197785 28158749 NM_018188 413 AAA ATPases CCDS31, CCDS53259, CCDS53260 OTTHUMG00000000575 612316 NM_001170535 Q9NVI7 ENSG00000197785 uc001aga.3 B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55210 false 449ATAD3A 55210 __UNKNOWN__ hg19 1 1460671 1460671 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1460671C>T ENST00000378756.3 + 12 1384 c.1266C>T c.(1264-1266)acC>acT p.T422T ATAD3A_ENST00000378755.5_Splice_Site_p.T470T|ATAD3A_ENST00000536055.1_Splice_Site_p.T343T NM_001170535.1 NP_001164006.1 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) ATP binding (GO:0005524) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCGAGCCACCGTGAGTGTCA 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT GU189416 HGNC:25567 Approved gene with protein product protein-coding gene FLJ10709 1p36.33 2017-11-27 2007-02-08 AK025865 ENSG00000197785 28158749 NM_018188 413 AAA ATPases CCDS31, CCDS53259, CCDS53260 OTTHUMG00000000575 612316 NM_001170535 Q9NVI7 ENSG00000197785 uc001aga.3 B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55210 false 450ATAD3A 55210 __UNKNOWN__ hg19 1 1460671 1460671 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1460671C>T ENST00000378756.3 + 12 1384 c.1266C>T c.(1264-1266)acC>acT p.T422T ATAD3A_ENST00000378755.5_Splice_Site_p.T470T|ATAD3A_ENST00000536055.1_Splice_Site_p.T343T NM_001170535.1 NP_001164006.1 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) ATP binding (GO:0005524) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCGAGCCACCGTGAGTGTCA 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT GU189416 HGNC:25567 Approved gene with protein product protein-coding gene FLJ10709 1p36.33 2017-11-27 2007-02-08 AK025865 ENSG00000197785 28158749 NM_018188 413 AAA ATPases CCDS31, CCDS53259, CCDS53260 OTTHUMG00000000575 612316 NM_001170535 Q9NVI7 ENSG00000197785 uc001aga.3 B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55210 false 451ATAD3A 55210 __UNKNOWN__ hg19 1 1465382 1465382 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1465382A>G ENST00000378756.3 + c.e15+671A>G ATAD3A_ENST00000378755.5_Intron|ATAD3A_ENST00000536055.1_Intron NM_001170535.1 NP_001164006.1 Q9NVI7 ATD3A_HUMAN ATPase family, AAA domain containing 3A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell growth (GO:0016049)|negative regulation of apoptotic process (GO:0043066) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739) ATP binding (GO:0005524) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTCTGTGTAACAACCTGGT 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GU189416 HGNC:25567 Approved gene with protein product protein-coding gene FLJ10709 1p36.33 2017-11-27 2007-02-08 AK025865 ENSG00000197785 28158749 NM_018188 413 AAA ATPases CCDS31, CCDS53259, CCDS53260 OTTHUMG00000000575 612316 NM_001170535 Q9NVI7 ENSG00000197785 uc001aga.3 B3KPB3|D2K8Q1|G3V1I6|Q5SV23|Q8N275|Q96A50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55210 false 452TMEM240 339453 __UNKNOWN__ hg19 1 1474167 1474167 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1474167A>G ENST00000378733.4 - c.e2-897T>C TMEM240_ENST00000425828.1_Intron NM_001114748.1 NP_001108220.1 Q5SV17 TM240_HUMAN transmembrane protein 240 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACATGCCCCACACCCACACG 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC147020 HGNC:25186 Approved gene with protein product protein-coding gene C1orf70, SCA21 "chromosome 1 open reading frame 70", "spinocerebellar ataxia 21" 1p36.33 2015-08-26 2011-11-25 2011-11-25 ENSG00000205090 12402269, 25070513 NM_001114748 CCDS44040 OTTHUMG00000042193 616101 NM_001114748 Q5SV17 ENSG00000205090 uc057bfw.1 B9EJG7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339453 false 453SSU72 29101 __UNKNOWN__ hg19 1 1485984 1485984 + Intron SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1485984C>A ENST00000291386.3 - c.e3+5602G>T NM_014188.2 NP_054907.1 Q9NP77 SSU72_HUMAN SSU72 homolog, RNA polymerase II CTD phosphatase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378) cytoplasm (GO:0005737)|nucleus (GO:0005634) CTD phosphatase activity (GO:0008420) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(2) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGGCCCCCCTCAAGTGCCT 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25016 Approved gene with protein product protein-coding gene "Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)", "SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)" HSPC182 1p36.33 2016-10-05 2015-08-13 AJ276409 ENSG00000160075 15125841, 15659578 NM_014188 814 Serine/threonine phosphatases CCDS32 OTTHUMG00000000576 617680 NM_014188 Q9NP77 ENSG00000160075 uc001agd.4 Q9BZS6|Q9H933 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 29101 false 454SSU72 29101 __UNKNOWN__ hg19 1 1489670 1489670 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1489670C>T ENST00000291386.3 - c.e3+9288G>A NM_014188.2 NP_054907.1 Q9NP77 SSU72_HUMAN SSU72 homolog, RNA polymerase II CTD phosphatase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|mRNA polyadenylation (GO:0006378) cytoplasm (GO:0005737)|nucleus (GO:0005634) CTD phosphatase activity (GO:0008420) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(2) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCACGAGACGGATCCGGAC 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:25016 Approved gene with protein product protein-coding gene "Ssu72 RNA polymerase II CTD phosphatase homolog (yeast)", "SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)" HSPC182 1p36.33 2016-10-05 2015-08-13 AJ276409 ENSG00000160075 15125841, 15659578 NM_014188 814 Serine/threonine phosphatases CCDS32 OTTHUMG00000000576 617680 NM_014188 Q9NP77 ENSG00000160075 uc001agd.4 Q9BZS6|Q9H933 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 29101 false 455Unknown __UNKNOWN__ hg19 1 1521595 1521595 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1521595A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAAGAGGACAGCCAGAAGAG 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 456MIB2 142678 __UNKNOWN__ hg19 1 1550992 1550992 + Nonsense_Mutation SNP C C A 199741261 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1550992C>A ENST00000505820.2 + 1 170 c.153C>A c.(151-153)tgC>tgA p.C51* MIB2_ENST00000520777.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000355826.5_Nonsense_Mutation_p.C51*|MIB2_ENST00000518681.1_Nonsense_Mutation_p.C51*|MIB2_ENST00000357210.4_5'UTR|MIB2_ENST00000360522.4_5'UTR|MIB2_ENST00000378710.3_5'UTR|MIB2_ENST00000378708.1_5'Flank|MIB2_ENST00000378712.1_5'Flank|MIB2_ENST00000504599.1_5'Flank|RP11-345P4.9_ENST00000607222.1_RNA Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCGCGATGCGGGCCGTCCT 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC037542 HGNC:30577 Approved gene with protein product protein-coding gene ZZANK1 "zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)" skeletrophin, ZZZ5, FLJ39787 1p36.33 2016-04-25 2005-04-01 2012-02-23 AK097106 ENSG00000197530 12761501 NM_080875 91|403 Zinc fingers ZZ-type|Ankyrin repeat domain containing CCDS41224, CCDS53261, CCDS53262, CCDS53263, CCDS53264 OTTHUMG00000074647 611141 NM_001170686 Q96AX9 ENSG00000197530 uc001agg.4 A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1 true false false false false false false MIB2:142678 false true false false false false false false false false false false true false false false false false true true false false 0 true 0 false 0.998798,0.00120201 false false false SNV 0x050100020605040402000100 1 false 137 rs199741261 142678 1550992 true 457MIB2 142678 __UNKNOWN__ hg19 1 1560103 1560103 + Intron SNP C C T 28635343 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1560103C>T ENST00000505820.2 + c.e5-72C>T MIB2_ENST00000520777.1_Intron|MIB2_ENST00000504599.1_Intron|MIB2_ENST00000355826.5_Intron|MIB2_ENST00000378708.1_Intron|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000357210.4_Intron|MIB2_ENST00000360522.4_Intron|MIB2_ENST00000378710.3_Intron|MIB2_ENST00000512004.1_Intron Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCATCGCTCTCCCAAGTGG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC037542 HGNC:30577 Approved gene with protein product protein-coding gene ZZANK1 "zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)" skeletrophin, ZZZ5, FLJ39787 1p36.33 2016-04-25 2005-04-01 2012-02-23 AK097106 ENSG00000197530 12761501 NM_080875 91|403 Zinc fingers ZZ-type|Ankyrin repeat domain containing CCDS41224, CCDS53261, CCDS53262, CCDS53263, CCDS53264 OTTHUMG00000074647 611141 NM_001170686 Q96AX9 ENSG00000197530 uc001agg.4 A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1 true false 0.7596,0.2404 false false 1 false true true MIB2:142678 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.816265,0.183735 false false false SNV 0x050100080005170536000100 1 false 125 rs28635343 142678 1560103 true 458MIB2 142678 __UNKNOWN__ hg19 1 1562786 1562786 + Silent SNP C C T 75855249 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1562786C>T ENST00000505820.2 + 12 1847 c.1830C>T c.(1828-1830)gaC>gaT p.D610D MIB2_ENST00000520777.1_Silent_p.D606D|MIB2_ENST00000504599.1_Silent_p.D509D|MIB2_ENST00000355826.5_Silent_p.D596D|MIB2_ENST00000378708.1_Silent_p.D459D|MIB2_ENST00000518681.1_Silent_p.D545D|MIB2_ENST00000378712.1_Silent_p.D430D|MIB2_ENST00000357210.4_Silent_p.D553D|MIB2_ENST00000360522.4_Silent_p.D518D|MIB2_ENST00000378710.3_Silent_p.D517D|MMP23B_ENST00000356026.5_5'Flank|MMP23B_ENST00000378675.3_5'Flank Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGCCGGACGACGAGGGCA 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC037542 HGNC:30577 Approved gene with protein product protein-coding gene ZZANK1 "zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)" skeletrophin, ZZZ5, FLJ39787 1p36.33 2016-04-25 2005-04-01 2012-02-23 AK097106 ENSG00000197530 12761501 NM_080875 91|403 Zinc fingers ZZ-type|Ankyrin repeat domain containing CCDS41224, CCDS53261, CCDS53262, CCDS53263, CCDS53264 OTTHUMG00000074647 611141 NM_001170686 Q96AX9 ENSG00000197530 uc001agg.4 A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1 true false 0.992,0.007987 false false 1 false false false MIB2:142678 false true false true true false false false false false false false false false false false false false false true false true 0 true 0 true 0.981249,0.0187513 false false false SNV 0x050300000305040436000100 1 false 131 rs75855249 142678 1562786 true 459MIB2 142678 __UNKNOWN__ hg19 1 1565032 1565032 + Silent SNP G G A 200777664 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1565032G>A ENST00000505820.2 + 19 2939 c.2922G>A c.(2920-2922)agG>agA p.R974R MIB2_ENST00000520777.1_Silent_p.R970R|MIB2_ENST00000504599.1_Silent_p.R873R|MIB2_ENST00000355826.5_Silent_p.R960R|MIB2_ENST00000378708.1_Silent_p.R823R|MIB2_ENST00000378712.1_Missense_Mutation_p.D734N|MIB2_ENST00000518681.1_Silent_p.R909R|MIB2_ENST00000357210.4_Silent_p.R917R|MIB2_ENST00000360522.4_Silent_p.R882R|MIB2_ENST00000378710.3_Silent_p.R881R|MMP23B_ENST00000356026.5_5'Flank|MMP23B_ENST00000378675.3_5'Flank Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151) ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGCGCGCAGGATGAAGAAGT 0.713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC037542 HGNC:30577 Approved gene with protein product protein-coding gene ZZANK1 "zinc finger, ZZ type with ankyrin repeat domain 1", "mindbomb homolog 2 (Drosophila)" skeletrophin, ZZZ5, FLJ39787 1p36.33 2016-04-25 2005-04-01 2012-02-23 AK097106 ENSG00000197530 12761501 NM_080875 91|403 Zinc fingers ZZ-type|Ankyrin repeat domain containing CCDS41224, CCDS53261, CCDS53262, CCDS53263, CCDS53264 OTTHUMG00000074647 611141 NM_001170686 Q96AX9 ENSG00000197530 uc001agg.4 A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1 true false 0.9996,0.0003994 false false 0 false false false MIB2:142678 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 true 0.99945,0.000549526 false false false SNV 0x050000000b05040426000100 1 false 137 rs200777664 142678 1565032 true 460MMP23B 8510 __UNKNOWN__ hg19 1 1566160 1566160 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1566160T>C ENST00000356026.5 + MMP23B_ENST00000378675.3_5'Flank O75900 MMP23_HUMAN matrix metallopeptidase 23B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ proteolysis (GO:0006508)|reproduction (GO:0000003) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) central_nervous_system(22)|lung(98) 120 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Marimastat(DB00786) AGGACACCCTTCAGGCGCGGG 0.743142144638404 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC025719 HGNC:7171 Approved gene with protein product protein-coding gene MMP22 "matrix metalloproteinase 23B" MIFR, MIFR-1 "matrix metalloproteinase 22", "femalysin", "matrix metalloproteinase in the female reproductive tract" 1p36.33 2016-10-05 2005-08-08 ENSG00000189409 9740677, 9750192 NM_006983 594|891 Immunoglobulin like domain containing|M10 matrix metallopeptidases CCDS30559 OTTHUMG00000074713 603321 NM_006983 O75900 ENSG00000189409 uc057bhg.1 A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8510 false 461CDK11B 984 __UNKNOWN__ hg19 1 1572310 1572310 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1572310C>T ENST00000407249.3 - 17 1758 c.1758G>A c.(1756-1758)ccG>ccA p.P586P CDK11B_ENST00000317673.7_Silent_p.P584P|CDK11B_ENST00000340677.5_Silent_p.P573P|CDK11B_ENST00000341832.6_Silent_p.P539P P21127 CD11B_HUMAN cyclin dependent kinase 11B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) biliary_tract(2)|breast(27)|central_nervous_system(60)|haematopoietic_and_lymphoid_tissue(64)|kidney(46)|large_intestine(71)|lung(52)|oesophagus(1)|ovary(52)|pancreas(22)|salivary_gland(24)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACCACGACCGGGGTGTAGG 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC139777 HGNC:1729 Approved gene with protein product protein-coding gene CDC2L1 "cell division cycle 2-like 1 (PITSLRE proteins)" CDK11-p110, CDK11-p58, CDK11-p46 1p36.33 2016-06-08 2009-12-16 2016-06-08 AK000081 ENSG00000248333 1774066, 14511641, 19884882 NM_001787 496 Cyclin dependent kinases CCDS72682, CCDS72683, CCDS72684 OTTHUMG00000078638 176873 NM_001291345 P21127 ENSG00000248333 uc031tml.2 O95265|Q12817|Q12818|Q12819|Q12820|Q12822|Q8N530|Q9NZS5|Q9UBJ0|Q9UBQ1|Q9UBR0|Q9UNY2|Q9UP57|Q9UP58|Q9UP59 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 984 false 462SLC35E2B 728661 __UNKNOWN__ hg19 1 1601104 1601104 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1601104G>A ENST00000378662.1 - 8 1594 c.833C>T c.(832-834)aCg>aTg p.T278M SLC35E2B_ENST00000234800.6_Splice_Site_p.T278M|RP11-345P4.7_ENST00000596308.1_5'Flank P0CK96 S352B_HUMAN solute carrier family 35 member E2B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAACCCACCGTAAAGAAAAC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CR936618 HGNC:33941 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2B" 1p36.33 2015-12-04 2015-12-04 ENSG00000189339 752 Solute carriers CCDS44041 OTTHUMG00000078639 NM_001110781 P0CK96 ENSG00000189339 uc057bht.1 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 728661 false 463SLC35E2B 728661 __UNKNOWN__ hg19 1 1601537 1601537 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1601537G>A ENST00000378662.1 - 7 1522 c.761C>T c.(760-762)tCg>tTg p.S254L SLC35E2B_ENST00000234800.6_Splice_Site_p.S254L|RP11-345P4.7_ENST00000596308.1_5'Flank P0CK96 S352B_HUMAN solute carrier family 35 member E2B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATACTTACGAGAACCTGTA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CR936618 HGNC:33941 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2B" 1p36.33 2015-12-04 2015-12-04 ENSG00000189339 752 Solute carriers CCDS44041 OTTHUMG00000078639 NM_001110781 P0CK96 ENSG00000189339 uc057bht.1 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 728661 false 464SLC35E2B 728661 __UNKNOWN__ hg19 1 1611995 1611995 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1611995A>G ENST00000378662.1 - c.e3+3710T>C SLC35E2B_ENST00000234800.6_Intron P0CK96 S352B_HUMAN solute carrier family 35 member E2B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCAACGTCACACCGACCTG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR936618 HGNC:33941 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2B" 1p36.33 2015-12-04 2015-12-04 ENSG00000189339 752 Solute carriers CCDS44041 OTTHUMG00000078639 NM_001110781 P0CK96 ENSG00000189339 uc057bht.1 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q9Y3J8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 728661 false 465CDK11A 728642 __UNKNOWN__ hg19 1 1647686 1647686 + Intron SNP A A C 909823 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1647686A>C ENST00000358779.5 - c.e5-99T>G CDK11A_ENST00000356200.3_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378638.2_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA NM_033529.2 NP_277071.2 Q9UQ88 CD11A_HUMAN cyclin dependent kinase 11A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) oesophagus(1)|stomach(14) 15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTCTGCAACAAATGTGAC 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(186;965 2119 30274 40311 50569) U07705 HGNC:1730 Approved gene with protein product protein-coding gene CDC2L3, CDC2L2 "cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)" PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA 1p36.33 2016-06-08 2009-12-16 2016-06-08 AF067522 ENSG00000008128 7920654, 9750192, 19884882 NM_024011 496 Cyclin dependent kinases CCDS44042, CCDS44043, CCDS81253, CCDS81254 OTTHUMG00000000703 116951 NM_001313896 Q9UQ88 ENSG00000008128 uc009vks.4 O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89 true false 0.248,0.752 false false 1 false true true CDK11A:728642 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false false false false SNV 0x05010008000517053f000100 1 false 86 rs909823 728642 1647686 true 466CDK11A 728642 __UNKNOWN__ hg19 1 1647780 1647780 + Intron SNP C C T 370303160 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1647780C>T ENST00000358779.5 - c.e5-5G>A CDK11A_ENST00000356200.3_Intron|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000404249.3_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378638.2_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA NM_033529.2 NP_277071.2 Q9UQ88 CD11A_HUMAN cyclin dependent kinase 11A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) oesophagus(1)|stomach(14) 15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCAGCCCACTCACCTTTCT 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(186;965 2119 30274 40311 50569) U07705 HGNC:1730 Approved gene with protein product protein-coding gene CDC2L3, CDC2L2 "cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)" PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA 1p36.33 2016-06-08 2009-12-16 2016-06-08 AF067522 ENSG00000008128 7920654, 9750192, 19884882 NM_024011 496 Cyclin dependent kinases CCDS44042, CCDS44043, CCDS81253, CCDS81254 OTTHUMG00000000703 116951 NM_001313896 Q9UQ88 ENSG00000008128 uc009vks.4 O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89 true false 0.9998,0.0001997 false false 0 false false false CDK11A:728642 false true true false true false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000080005040426000100 1 false 138 rs370303160 728642 1647780 true 467CDK11A 728642 __UNKNOWN__ hg19 1 1647786 1647786 + Splice_Site DEL T T - 748188287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1647786delT ENST00000358779.5 - 5 538 c.457delA c.(457-459)aggfs p.R153fs CDK11A_ENST00000356200.3_Splice_Site_p.R129fs|CDK11A_ENST00000378633.1_Splice_Site_p.R153fs|CDK11A_ENST00000404249.3_Splice_Site_p.R163fs|CDK11A_ENST00000357760.2_Splice_Site_p.R153fs|CDK11A_ENST00000378638.2_Splice_Site_p.R129fs|CDK11A_ENST00000378635.3_Splice_Site_p.S153fs|RP1-283E3.8_ENST00000598846.1_Splice_Site NM_033529.2 NP_277071.2 Q9UQ88 CD11A_HUMAN cyclin dependent kinase 11A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) oesophagus(1)|stomach(14) 15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCACTCACCTTTCTCTCCTG 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_DEL Pancreas(186;965 2119 30274 40311 50569) U07705 HGNC:1730 Approved gene with protein product protein-coding gene CDC2L3, CDC2L2 "cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)" PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA 1p36.33 2016-06-08 2009-12-16 2016-06-08 AF067522 ENSG00000008128 7920654, 9750192, 19884882 NM_024011 496 Cyclin dependent kinases CCDS44042, CCDS44043, CCDS81253, CCDS81254 OTTHUMG00000000703 116951 NM_001313896 Q9UQ88 ENSG00000008128 uc009vks.4 O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89 true false false false false false false CDK11A:728642 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false true DIV 0x050000401205000402000200 1 false 144 rs748188287 728642 1647786 false 468CDK11A 728642 __UNKNOWN__ hg19 1 1647786 1647786 + Splice_Site DEL T T - 748188287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1647786delT ENST00000358779.5 - 5 538 c.457delA c.(457-459)aggfs p.R153fs CDK11A_ENST00000356200.3_Splice_Site_p.R129fs|CDK11A_ENST00000378633.1_Splice_Site_p.R153fs|CDK11A_ENST00000404249.3_Splice_Site_p.R163fs|CDK11A_ENST00000357760.2_Splice_Site_p.R153fs|CDK11A_ENST00000378638.2_Splice_Site_p.R129fs|CDK11A_ENST00000378635.3_Splice_Site_p.S153fs|RP1-283E3.8_ENST00000598846.1_Splice_Site NM_033529.2 NP_277071.2 Q9UQ88 CD11A_HUMAN cyclin dependent kinase 11A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) oesophagus(1)|stomach(14) 15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCACTCACCTTTCTCTCCTG 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_DEL Pancreas(186;965 2119 30274 40311 50569) U07705 HGNC:1730 Approved gene with protein product protein-coding gene CDC2L3, CDC2L2 "cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)" PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA 1p36.33 2016-06-08 2009-12-16 2016-06-08 AF067522 ENSG00000008128 7920654, 9750192, 19884882 NM_024011 496 Cyclin dependent kinases CCDS44042, CCDS44043, CCDS81253, CCDS81254 OTTHUMG00000000703 116951 NM_001313896 Q9UQ88 ENSG00000008128 uc009vks.4 O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89 true false false false false false false CDK11A:728642 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false true DIV 0x050000401205000402000200 1 false 144 rs748188287 728642 1647786 false 469CDK11A 728642 __UNKNOWN__ hg19 1 1647858 1647858 + Nonsense_Mutation SNP G G A 201054761 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1647858G>A ENST00000358779.5 - 5 465 c.385C>T c.(385-387)Cag>Tag p.Q129* CDK11A_ENST00000356200.3_Nonsense_Mutation_p.Q105*|CDK11A_ENST00000378633.1_Nonsense_Mutation_p.Q129*|CDK11A_ENST00000404249.3_Nonsense_Mutation_p.Q139*|CDK11A_ENST00000357760.2_Nonsense_Mutation_p.Q129*|CDK11A_ENST00000378638.2_Nonsense_Mutation_p.Q105*|CDK11A_ENST00000378635.3_Nonsense_Mutation_p.Q129*|RP1-283E3.8_ENST00000598846.1_RNA NM_033529.2 NP_277071.2 Q9UQ88 CD11A_HUMAN cyclin dependent kinase 11A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) oesophagus(1)|stomach(14) 15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTTATCCTGTTCTTCTCGA 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(186;965 2119 30274 40311 50569) U07705 HGNC:1730 Approved gene with protein product protein-coding gene CDC2L3, CDC2L2 "cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)" PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA 1p36.33 2016-06-08 2009-12-16 2016-06-08 AF067522 ENSG00000008128 7920654, 9750192, 19884882 NM_024011 496 Cyclin dependent kinases CCDS44042, CCDS44043, CCDS81253, CCDS81254 OTTHUMG00000000703 116951 NM_001313896 Q9UQ88 ENSG00000008128 uc009vks.4 O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89 true false 0.9998,0.0001997 false false 0 false false false CDK11A:728642 false true false true true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999897,0.000103277 false false true SNV 0x050000400605040436000100 1 false 137 rs201054761 728642 1647858 true 470CDK11A 728642 __UNKNOWN__ hg19 1 1650787 1650787 + Intron SNP T T C 1137003 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1650787T>C ENST00000358779.5 - c.e4-10A>G CDK11A_ENST00000356200.3_Missense_Mutation_p.H78R|CDK11A_ENST00000404249.3_Missense_Mutation_p.H112R|CDK11A_ENST00000378638.2_Missense_Mutation_p.H78R|CDK11A_ENST00000378633.1_Intron|CDK11A_ENST00000357760.2_Intron|CDK11A_ENST00000378635.3_Intron|RP1-283E3.8_ENST00000598846.1_RNA NM_033529.2 NP_277071.2 Q9UQ88 CD11A_HUMAN cyclin dependent kinase 11A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355) cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674) oesophagus(1)|stomach(14) 15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAATGGCTATGATGCCTACA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(186;965 2119 30274 40311 50569) U07705 HGNC:1730 Approved gene with protein product protein-coding gene CDC2L3, CDC2L2 "cell division cycle 2-like 2", "cell division cycle 2-like 2 (PITSLRE proteins)" PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA 1p36.33 2016-06-08 2009-12-16 2016-06-08 AF067522 ENSG00000008128 7920654, 9750192, 19884882 NM_024011 496 Cyclin dependent kinases CCDS44042, CCDS44043, CCDS81253, CCDS81254 OTTHUMG00000000703 116951 NM_001313896 Q9UQ88 ENSG00000008128 uc009vks.4 O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89 true false false false false true true CDK11A:728642 true true true true false false false false false false false true false false false false false false false true false false 0 true 16 false 0.999966,3.44234e-005 false false true SNV 0x050100480a05070516000140 1 false 130 rs1137003 728642 1650787 true 471SLC35E2 9906 __UNKNOWN__ hg19 1 1663831 1663831 + Intron SNP C C T 3817856 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1663831C>T ENST00000355439.2 - c.e6-2298G>A SLC35E2_ENST00000246421.4_3'UTR|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35 member E2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGAGACCACCATGAGTTCC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112289 HGNC:20863 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2" KIAA0447 1p36.33 2015-12-04 2015-12-04 AB007916 ENSG00000215790 XM_049733 752 Solute carriers CCDS33, CCDS55560 OTTHUMG00000000823 NM_001199787 P0CK97 ENSG00000215790 uc001aia.3 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 true false 0.7141,0.2859 false false 1 false true false LOC101928920:101928920|SLC35E2:9906 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false true false SNV 0x0501008a000515053f000101 1 false 107 rs3817856 9906 1663831 true 472SLC35E2 9906 __UNKNOWN__ hg19 1 1663944 1663944 + Intron SNP G G A 146969326 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1663944G>A ENST00000355439.2 - c.e6-2185C>T SLC35E2_ENST00000246421.4_Nonsense_Mutation_p.R251*|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35 member E2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGCGACTCGGTGCAGGGCC 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112289 HGNC:20863 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2" KIAA0447 1p36.33 2015-12-04 2015-12-04 AB007916 ENSG00000215790 XM_049733 752 Solute carriers CCDS33, CCDS55560 OTTHUMG00000000823 NM_001199787 P0CK97 ENSG00000215790 uc001aia.3 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 true false 0.9992,0.0007987 false false 1 false false false LOC101928920:101928920|SLC35E2:9906 false true true true true false false false false false false false true false false false false false true true false false 0 false 0 false 0.998589,0.00141058 false false false SNV 0x0500000a0605040436000100 1 false 134 rs146969326 9906 1663944 true 473SLC35E2 9906 __UNKNOWN__ hg19 1 1664019 1664019 + Intron SNP T T C 2294488 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1664019T>C ENST00000355439.2 - c.e6-2110A>G SLC35E2_ENST00000246421.4_Intron|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35 member E2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCGTGCGTGGTGCACAGC 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112289 HGNC:20863 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2" KIAA0447 1p36.33 2015-12-04 2015-12-04 AB007916 ENSG00000215790 XM_049733 752 Solute carriers CCDS33, CCDS55560 OTTHUMG00000000823 NM_001199787 P0CK97 ENSG00000215790 uc001aia.3 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 true false 0.3131,0.6869 false false 1 false true true LOC101928920:101928920|SLC35E2:9906 true true true true true false false false false false false false false false false false false false true false false false 0 true 0 false false false false SNV 0x0501000a000517053f000100 1 false 100 rs2294488 9906 1664019 true 474SLC35E2 9906 __UNKNOWN__ hg19 1 1664124 1664124 + Intron SNP T T C 2294489 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1664124T>C ENST00000355439.2 - c.e6-2005A>G SLC35E2_ENST00000246421.4_Intron|SLC35E2_ENST00000400924.1_Intron|RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000475229.1_Intron NM_001199787.1 NP_001186716.1 P0CK97 S35E2_HUMAN solute carrier family 35 member E2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCCACCATTCCCGCCAGCC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112289 HGNC:20863 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2" KIAA0447 1p36.33 2015-12-04 2015-12-04 AB007916 ENSG00000215790 XM_049733 752 Solute carriers CCDS33, CCDS55560 OTTHUMG00000000823 NM_001199787 P0CK97 ENSG00000215790 uc001aia.3 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 true false 0.4091,0.5909 false false 1 false true false SLC35E2:9906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false false false false SNV 0x05010008000515053f000100 1 false 100 rs2294489 9906 1664124 true 475SLC35E2 9906 __UNKNOWN__ hg19 1 1680219 1680219 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1680219G>A ENST00000246421.4 - SLC35E2_ENST00000355439.2_5'Flank|SLC35E2_ENST00000400924.1_5'Flank NM_182838.2 NP_878258.1 P0CK97 S35E2_HUMAN solute carrier family 35 member E2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCCAGGCGCTGTGCAAAC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112289 HGNC:20863 Approved gene with protein product protein-coding gene "solute carrier family 35, member E2" KIAA0447 1p36.33 2015-12-04 2015-12-04 AB007916 ENSG00000215790 XM_049733 752 Solute carriers CCDS33, CCDS55560 OTTHUMG00000000823 NM_001199787 P0CK97 ENSG00000215790 uc001aia.3 B3KWR0|O75035|Q2TAY8|Q569F8|Q5CZA4|Q5QPR8|Q9Y3J8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9906 false 476NADK 65220 __UNKNOWN__ hg19 1 1684472 1684472 + Silent SNP C C T 7407 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1684472C>T ENST00000344463.4 - 14 1869 c.1647G>A c.(1645-1647)ccG>ccA p.P549P NADK_ENST00000378625.1_Silent_p.P549P|NADK_ENST00000341426.5_Silent_p.P404P|NADK_ENST00000341991.3_Silent_p.P404P|NADK_ENST00000342348.5_Silent_p.P372P O95544 NADK_HUMAN NAD kinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(11)|central_nervous_system(22)|large_intestine(11)|salivary_gland(1) 45 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGAGGGGAGCGGGTAGCATG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:29831 Approved gene with protein product protein-coding gene FLJ13052 1p36.33 2014-11-19 BC001709 2.7.1.23 ENSG00000008130 11594753 NM_023018 CCDS30565, CCDS55561, CCDS55562 OTTHUMG00000000942 611616 NM_001198993 O95544 ENSG00000008130 uc001aid.5 A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931 true false 0.6603,0.3397 false false 1 false true false NADK:65220 true true false true true false false false false false false false false false false false false false false true true true 0 true 0 true 0.650972,0.349028 false false false SNV 0x05030000030515053f000100 1 false 52 rs7407 65220 1684472 true 477NADK 65220 __UNKNOWN__ hg19 1 1688096 1688096 + Splice_Site SNP C C T 72634841 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1688096C>T ENST00000344463.4 - 7 1002 c.780G>A c.(778-780)ccG>ccA p.P260P NADK_ENST00000378625.1_Splice_Site_p.P260P|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron O95544 NADK_HUMAN NAD kinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(11)|central_nervous_system(22)|large_intestine(11)|salivary_gland(1) 45 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCCACCCTCCTGCAGGGAG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:29831 Approved gene with protein product protein-coding gene FLJ13052 1p36.33 2014-11-19 BC001709 2.7.1.23 ENSG00000008130 11594753 NM_023018 CCDS30565, CCDS55561, CCDS55562 OTTHUMG00000000942 611616 NM_001198993 O95544 ENSG00000008130 uc001aid.5 A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931 true false 0.997,0.002995 false false 1 false false false NADK:65220 false true true true true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997115,0.00288481 false false false SNV 0x05020008030504043e000100 1 false 130 rs72634841 65220 1688096 true 478NADK 65220 __UNKNOWN__ hg19 1 1688096 1688096 + Splice_Site SNP C C T 72634841 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1688096C>T ENST00000344463.4 - 7 1002 c.780G>A c.(778-780)ccG>ccA p.P260P NADK_ENST00000378625.1_Splice_Site_p.P260P|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron O95544 NADK_HUMAN NAD kinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(11)|central_nervous_system(22)|large_intestine(11)|salivary_gland(1) 45 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCCACCCTCCTGCAGGGAG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:29831 Approved gene with protein product protein-coding gene FLJ13052 1p36.33 2014-11-19 BC001709 2.7.1.23 ENSG00000008130 11594753 NM_023018 CCDS30565, CCDS55561, CCDS55562 OTTHUMG00000000942 611616 NM_001198993 O95544 ENSG00000008130 uc001aid.5 A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931 true false 0.997,0.002995 false false 1 false false false NADK:65220 false true true true true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997115,0.00288481 false false false SNV 0x05020008030504043e000100 1 false 130 rs72634841 65220 1688096 true 479NADK 65220 __UNKNOWN__ hg19 1 1706136 1706136 + Intron SNP T T C 6603811 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1706136T>C ENST00000344463.4 - c.e1-3592A>G NADK_ENST00000378625.1_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron O95544 NADK_HUMAN NAD kinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(11)|central_nervous_system(22)|large_intestine(11)|salivary_gland(1) 45 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGACAAGGGTGAGTCAGGAC 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:29831 Approved gene with protein product protein-coding gene FLJ13052 1p36.33 2014-11-19 BC001709 2.7.1.23 ENSG00000008130 11594753 NM_023018 CCDS30565, CCDS55561, CCDS55562 OTTHUMG00000000942 611616 NM_001198993 O95544 ENSG00000008130 uc001aid.5 A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931 true false 0.2534,0.7466 false false 1 false true false NADK:65220 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.237688,0.762312 false false false SNV 0x05010008000515053f000100 1 false 116 rs6603811 65220 1706136 true 480NADK 65220 __UNKNOWN__ hg19 1 1707740 1707740 + Intron SNP T T G 12041925 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1707740T>G ENST00000344463.4 - c.e1-1988A>C NADK_ENST00000378625.1_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000492768.1_Intron O95544 NADK_HUMAN NAD kinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(11)|central_nervous_system(22)|large_intestine(11)|salivary_gland(1) 45 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAACTTTCTGGGACACCCT 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:29831 Approved gene with protein product protein-coding gene FLJ13052 1p36.33 2014-11-19 BC001709 2.7.1.23 ENSG00000008130 11594753 NM_023018 CCDS30565, CCDS55561, CCDS55562 OTTHUMG00000000942 611616 NM_001198993 O95544 ENSG00000008130 uc001aid.5 A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931 true false 0.8019,0.1981 false false 1 false true true NADK:65220 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.749193,0.250807 false false false SNV 0x05010008000517053f000100 1 false 120 rs12041925 65220 1707740 true 481NADK 65220 __UNKNOWN__ hg19 1 1715011 1715011 + 5'Flank SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1715011C>A ENST00000341991.3 - NADK_ENST00000378625.1_5'Flank NM_001198993.1 NP_001185922.1 O95544 NADK_HUMAN NAD kinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829) ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951) breast(11)|central_nervous_system(22)|large_intestine(11)|salivary_gland(1) 45 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCACCTTGCCTGGAGCAGG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:29831 Approved gene with protein product protein-coding gene FLJ13052 1p36.33 2014-11-19 BC001709 2.7.1.23 ENSG00000008130 11594753 NM_023018 CCDS30565, CCDS55561, CCDS55562 OTTHUMG00000000942 611616 NM_001198993 O95544 ENSG00000008130 uc001aid.5 A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 65220 false 482GNB1 2782 __UNKNOWN__ hg19 1 1720670 1720670 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1720670G>A ENST00000378609.4 - 10 1070 c.738C>T c.(736-738)gaC>gaT p.D246D NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN G protein subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(86)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGGCGTCGTCTGAGCCAG 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04526 HGNC:4396 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), beta polypeptide 1" "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" 1p36.33 2017-04-12 2016-03-03 BC004186 ENSG00000078369 NM_002074 1430|362 G protein subunits beta|WD repeat domain containing CCDS34, CCDS72685 OTTHUMG00000000940 139380 NM_001282538 P62873 ENSG00000078369 uc031tmu.1 B1AJZ7|P04697|P04901|Q1RMY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2782 false 483GNB1 2782 __UNKNOWN__ hg19 1 1766856 1766856 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1766856A>G ENST00000378609.4 - c.e2-3773T>C GNB1_ENST00000472614.2_Intron NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN G protein subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(86)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTAGAATCCATGCAAGCCCC 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04526 HGNC:4396 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), beta polypeptide 1" "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" 1p36.33 2017-04-12 2016-03-03 BC004186 ENSG00000078369 NM_002074 1430|362 G protein subunits beta|WD repeat domain containing CCDS34, CCDS72685 OTTHUMG00000000940 139380 NM_001282538 P62873 ENSG00000078369 uc031tmu.1 B1AJZ7|P04697|P04901|Q1RMY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2782 false 484GNB1 2782 __UNKNOWN__ hg19 1 1776269 1776269 + Intron SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1776269C>A ENST00000378609.4 - c.e2+5592G>T GNB1_ENST00000472614.2_Intron NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN G protein subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(86)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTGGTGCACATGTAACATA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04526 HGNC:4396 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), beta polypeptide 1" "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" 1p36.33 2017-04-12 2016-03-03 BC004186 ENSG00000078369 NM_002074 1430|362 G protein subunits beta|WD repeat domain containing CCDS34, CCDS72685 OTTHUMG00000000940 139380 NM_001282538 P62873 ENSG00000078369 uc031tmu.1 B1AJZ7|P04697|P04901|Q1RMY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2782 false 485GNB1 2782 __UNKNOWN__ hg19 1 1804302 1804302 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1804302C>T ENST00000378609.4 - c.e1-17957G>A GNB1_ENST00000472614.2_Intron NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN G protein subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(86)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGTAAGTACTTGGTAAATA 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04526 HGNC:4396 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), beta polypeptide 1" "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" 1p36.33 2017-04-12 2016-03-03 BC004186 ENSG00000078369 NM_002074 1430|362 G protein subunits beta|WD repeat domain containing CCDS34, CCDS72685 OTTHUMG00000000940 139380 NM_001282538 P62873 ENSG00000078369 uc031tmu.1 B1AJZ7|P04697|P04901|Q1RMY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2782 false 486GNB1 2782 __UNKNOWN__ hg19 1 1810090 1810090 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1810090C>T ENST00000378609.4 - c.e1-12169G>A GNB1_ENST00000472614.2_Intron NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN G protein subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(86)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCACCAAGGCAAGTTGGCAT 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04526 HGNC:4396 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), beta polypeptide 1" "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" 1p36.33 2017-04-12 2016-03-03 BC004186 ENSG00000078369 NM_002074 1430|362 G protein subunits beta|WD repeat domain containing CCDS34, CCDS72685 OTTHUMG00000000940 139380 NM_001282538 P62873 ENSG00000078369 uc031tmu.1 B1AJZ7|P04697|P04901|Q1RMY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2782 false 487GNB1 2782 __UNKNOWN__ hg19 1 1812521 1812521 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1812521C>T ENST00000378609.4 - c.e1-9738G>A GNB1_ENST00000472614.2_Intron NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN G protein subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(86)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAAGGCCTGCCGTACCCTCGA 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04526 HGNC:4396 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), beta polypeptide 1" "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" 1p36.33 2017-04-12 2016-03-03 BC004186 ENSG00000078369 NM_002074 1430|362 G protein subunits beta|WD repeat domain containing CCDS34, CCDS72685 OTTHUMG00000000940 139380 NM_001282538 P62873 ENSG00000078369 uc031tmu.1 B1AJZ7|P04697|P04901|Q1RMY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2782 false 488GNB1 2782 __UNKNOWN__ hg19 1 1818129 1818129 + Intron SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1818129A>C ENST00000378609.4 - c.e1-4130T>G GNB1_ENST00000472614.2_Intron|RP1-140A9.1_ENST00000412228.1_5'Flank NM_002074.3 NP_002065.1 P62873 GBB1_HUMAN G protein subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268) extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982) GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(86)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCAGAATGTAAACCAGTTTA 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04526 HGNC:4396 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), beta polypeptide 1" "transducin beta chain 1", "guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1" 1p36.33 2017-04-12 2016-03-03 BC004186 ENSG00000078369 NM_002074 1430|362 G protein subunits beta|WD repeat domain containing CCDS34, CCDS72685 OTTHUMG00000000940 139380 NM_001282538 P62873 ENSG00000078369 uc031tmu.1 B1AJZ7|P04697|P04901|Q1RMY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2782 false 489CALML6 163688 __UNKNOWN__ hg19 1 1846765 1846765 + Intron SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1846765G>A ENST00000307786.3 + c.e1+19G>A CALML6_ENST00000462293.1_5'Flank NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin like 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|nucleus (GO:0005634) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|pancreas(22) 178 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACAGCATGGGACCAGGGTC 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY566229 HGNC:24193 Approved gene with protein product protein-coding gene "calmodulin-like 6" CAGLP 1p36.33 2015-11-23 2015-11-23 AF490905 ENSG00000169885 NM_138705 863 EF-hand domain containing CCDS30566, CCDS81255 OTTHUMG00000000943 610171 NM_138705 Q8TD86 ENSG00000169885 uc001aih.1 A2A2M3|Q6Q2C4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 163688 false 490CALML6 163688 __UNKNOWN__ hg19 1 1847531 1847531 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1847531C>T ENST00000307786.3 + c.e3-349C>T CALML6_ENST00000462293.1_Intron NM_138705.2 NP_619650.2 Q8TD86 CALL6_HUMAN calmodulin like 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|nucleus (GO:0005634) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|pancreas(22) 178 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCTCCCCACCCTGCTCTCG 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY566229 HGNC:24193 Approved gene with protein product protein-coding gene "calmodulin-like 6" CAGLP 1p36.33 2015-11-23 2015-11-23 AF490905 ENSG00000169885 NM_138705 863 EF-hand domain containing CCDS30566, CCDS81255 OTTHUMG00000000943 610171 NM_138705 Q8TD86 ENSG00000169885 uc001aih.1 A2A2M3|Q6Q2C4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 163688 false 491TMEM52 339456 __UNKNOWN__ hg19 1 1852484 1852484 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1852484A>G ENST00000310991.3 - TMEM52_ENST00000378602.3_5'Flank NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCATTGGACAGAAATCCTGC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY358544 HGNC:27916 Approved gene with protein product protein-coding gene 1p36.33 2014-11-19 AJ278736 ENSG00000178821 NM_178545 CCDS35 OTTHUMG00000000944 NM_178545 Q8NDY8 ENSG00000178821 uc001aij.3 Q4VXS6|Q6UX25 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339456 false 492TMEM52 339456 __UNKNOWN__ hg19 1 1854321 1854321 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1854321A>G ENST00000310991.3 - TMEM52_ENST00000378602.3_5'Flank NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGGCTGTCAGGACAAGCCC 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY358544 HGNC:27916 Approved gene with protein product protein-coding gene 1p36.33 2014-11-19 AJ278736 ENSG00000178821 NM_178545 CCDS35 OTTHUMG00000000944 NM_178545 Q8NDY8 ENSG00000178821 uc001aij.3 Q4VXS6|Q6UX25 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339456 false 493TMEM52 339456 __UNKNOWN__ hg19 1 1855655 1855655 + 5'Flank SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1855655G>T ENST00000310991.3 - NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCGCCAGCTCACCGACC 0.7306733167082294 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY358544 HGNC:27916 Approved gene with protein product protein-coding gene 1p36.33 2014-11-19 AJ278736 ENSG00000178821 NM_178545 CCDS35 OTTHUMG00000000944 NM_178545 Q8NDY8 ENSG00000178821 uc001aij.3 Q4VXS6|Q6UX25 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339456 false 494Unknown __UNKNOWN__ hg19 1 1865298 1865298 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1865298A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATTCTTGAAAAGGAAGCTT 0.39900249376558605 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 495Unknown __UNKNOWN__ hg19 1 1886519 1886519 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1886519C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGGAAGTGCGGCTCACACA 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 496Unknown __UNKNOWN__ hg19 1 1887019 1887019 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1887019A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGAAGGCCTAGGAAAATTCT 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 497Unknown __UNKNOWN__ hg19 1 1887049 1887049 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1887049T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCCTCCCCTGGGCCCCTCA 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 498Unknown __UNKNOWN__ hg19 1 1887055 1887055 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1887055C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCTGGGCCCCTCAGCCCCC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 499Unknown __UNKNOWN__ hg19 1 1887195 1887195 + IGR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1887195G>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCATGTCCGCCTGGGAGGA 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 500Unknown __UNKNOWN__ hg19 1 1888057 1888057 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1888057A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCACACTCACTAATTTCAG 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 501Unknown __UNKNOWN__ hg19 1 1888115 1888115 + IGR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1888115A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGGCAGGAACTTGAAAGTC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 502Unknown __UNKNOWN__ hg19 1 1888168 1888168 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1888168G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCCGAGACGTGGTCTCTCC 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 503Unknown __UNKNOWN__ hg19 1 1888193 1888193 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1888193C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTAGCTGCCGAAGTCAATG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 504Unknown __UNKNOWN__ hg19 1 1888193 1888193 + IGR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1888193C>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTAGCTGCCGAAGTCAATG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 505Unknown __UNKNOWN__ hg19 1 1890559 1890559 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1890559C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGAACTCACCGAACATTTCT 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 506Unknown __UNKNOWN__ hg19 1 1890609 1890609 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1890609G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGCCCGTCTGAGCCAAAAAT 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 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__UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1916904C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTCTGGACACGGCCTGGAGG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 539Unknown __UNKNOWN__ hg19 1 1918445 1918445 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1918445C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCAGGTCCCGCCTCTGCCG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 540Unknown __UNKNOWN__ hg19 1 1918475 1918475 + IGR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1918475C>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCTCCCCTCTGGAACAGGG 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 541C1orf222 __UNKNOWN__ hg19 1 1930754 1930754 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1930754C>T ENST00000434971.2 - c.e1-4386G>A Q69YW0 CA222_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGAATGGACATCTTTGTCG 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL391845 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 542Unknown __UNKNOWN__ hg19 1 1941929 1941929 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1941929G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTTCAGACGGTCAAACAGC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 543GABRD 2563 __UNKNOWN__ hg19 1 1946591 1946591 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1946591G>A ENST00000378585.4 + RP11-547D24.1_ENST00000443930.1_RNA NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid type A receptor delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) AGCGAGCGCCGTTTCCTCTCC 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC033801 HGNC:4084 Approved gene with protein product protein-coding gene "gamma-aminobutyric acid (GABA) A receptor, delta" "GABA(A) receptor, delta" 1p36.33 2016-10-05 2016-02-04 BC033801 ENSG00000187730 2176788, 10965146 NM_000815 563 Gamma-aminobutyric acid type A receptor subunits CCDS36 OTTHUMG00000041064 137163 NM_000815 O14764 ENSG00000187730 uc001aip.3 Q8N4N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2563 false 544GABRD 2563 __UNKNOWN__ hg19 1 1956414 1956414 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1956414C>T ENST00000378585.4 + 2 185 c.102C>T c.(100-102)tcC>tcT p.S34S NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid type A receptor delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) ACGTGGGCTCCAACCTGGAGA 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC033801 HGNC:4084 Approved gene with protein product protein-coding gene "gamma-aminobutyric acid (GABA) A receptor, delta" "GABA(A) receptor, delta" 1p36.33 2016-10-05 2016-02-04 BC033801 ENSG00000187730 2176788, 10965146 NM_000815 563 Gamma-aminobutyric acid type A receptor subunits CCDS36 OTTHUMG00000041064 137163 NM_000815 O14764 ENSG00000187730 uc001aip.3 Q8N4N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2563 false 545GABRD 2563 __UNKNOWN__ hg19 1 1959595 1959595 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1959595C>T ENST00000378585.4 + 6 638 c.555C>T c.(553-555)taC>taT p.Y185Y NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid type A receptor delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) TTCCTCCAGACGGTTACTCAT 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC033801 HGNC:4084 Approved gene with protein product protein-coding gene "gamma-aminobutyric acid (GABA) A receptor, delta" "GABA(A) receptor, delta" 1p36.33 2016-10-05 2016-02-04 BC033801 ENSG00000187730 2176788, 10965146 NM_000815 563 Gamma-aminobutyric acid type A receptor subunits CCDS36 OTTHUMG00000041064 137163 NM_000815 O14764 ENSG00000187730 uc001aip.3 Q8N4N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2563 false 546GABRD 2563 __UNKNOWN__ hg19 1 1959595 1959595 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1959595C>T ENST00000378585.4 + 6 638 c.555C>T c.(553-555)taC>taT p.Y185Y NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid type A receptor delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) TTCCTCCAGACGGTTACTCAT 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC033801 HGNC:4084 Approved gene with protein product protein-coding gene "gamma-aminobutyric acid (GABA) A receptor, delta" "GABA(A) receptor, delta" 1p36.33 2016-10-05 2016-02-04 BC033801 ENSG00000187730 2176788, 10965146 NM_000815 563 Gamma-aminobutyric acid type A receptor subunits CCDS36 OTTHUMG00000041064 137163 NM_000815 O14764 ENSG00000187730 uc001aip.3 Q8N4N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2563 false 547GABRD 2563 __UNKNOWN__ hg19 1 1959730 1959730 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1959730C>T ENST00000378585.4 + 6 773 c.690C>T c.(688-690)tcC>tcT p.S230S NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid type A receptor delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) ACTTCAAGTCCGGTAACATAT 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC033801 HGNC:4084 Approved gene with protein product protein-coding gene "gamma-aminobutyric acid (GABA) A receptor, delta" "GABA(A) receptor, delta" 1p36.33 2016-10-05 2016-02-04 BC033801 ENSG00000187730 2176788, 10965146 NM_000815 563 Gamma-aminobutyric acid type A receptor subunits CCDS36 OTTHUMG00000041064 137163 NM_000815 O14764 ENSG00000187730 uc001aip.3 Q8N4N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2563 false 548GABRD 2563 __UNKNOWN__ hg19 1 1959730 1959730 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1959730C>T ENST00000378585.4 + 6 773 c.690C>T c.(688-690)tcC>tcT p.S230S NM_000815.4 NP_000806.2 O14764 GBRD_HUMAN gamma-aminobutyric acid type A receptor delta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810) cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211) chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897) ACTTCAAGTCCGGTAACATAT 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC033801 HGNC:4084 Approved gene with protein product protein-coding gene "gamma-aminobutyric acid (GABA) A receptor, delta" "GABA(A) receptor, delta" 1p36.33 2016-10-05 2016-02-04 BC033801 ENSG00000187730 2176788, 10965146 NM_000815 563 Gamma-aminobutyric acid type A receptor subunits CCDS36 OTTHUMG00000041064 137163 NM_000815 O14764 ENSG00000187730 uc001aip.3 Q8N4N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2563 false 549Unknown __UNKNOWN__ hg19 1 1963108 1963108 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1963108T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCAGGCATCTGGGGCGCTGC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 550Unknown __UNKNOWN__ hg19 1 1967954 1967954 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1967954C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATCGTCCACGCAGCTCAGC 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 551Unknown __UNKNOWN__ hg19 1 1979253 1979253 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1979253G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCAGGACGGAGGCTCCCG 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 552Unknown __UNKNOWN__ hg19 1 1986954 1986954 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1986954G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACATGTGTCGTCTGCACCAG 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 553Unknown __UNKNOWN__ hg19 1 1992748 1992748 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:1992748C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCTGTCTACGACCTCGGCA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 554PRKCZ 5590 __UNKNOWN__ hg19 1 2004098 2004098 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2004098G>A ENST00000400921.2 + NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) GGGTTGGTGGGTTTGCATTTG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 555PRKCZ 5590 __UNKNOWN__ hg19 1 2017297 2017297 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2017297T>C ENST00000400921.2 + c.e1+11929T>C NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) AGGTCTGCACTCATGGGTGGG 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 556PRKCZ 5590 __UNKNOWN__ hg19 1 2024064 2024064 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2024064C>T ENST00000400921.2 + c.e1+18696C>T NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) AGCTTGAAGACGTTGTACGTG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 557PRKCZ 5590 __UNKNOWN__ hg19 1 2026749 2026749 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2026749A>G ENST00000400921.2 + c.e1+21381A>G NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) TGAGCTCACCATGGTTTTGGA 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 558PRKCZ 5590 __UNKNOWN__ hg19 1 2027901 2027901 + Intron SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2027901G>A ENST00000400921.2 + c.e1+22533G>A NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) CGCCAGGAACGCGGTTGTACG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 559PRKCZ 5590 __UNKNOWN__ hg19 1 2035684 2035684 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2035684C>T ENST00000400921.2 + c.e1+30316C>T PRKCZ_ENST00000400920.1_5'Flank NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) GGGAGGGGAGCGGGTCGTCTC 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 560PRKCZ 5590 __UNKNOWN__ hg19 1 2038139 2038139 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2038139C>T ENST00000400921.2 + c.e2-28562C>T PRKCZ_ENST00000400920.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) CAAGCCCCTCCGGTGGGCGAG 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 561PRKCZ 5590 __UNKNOWN__ hg19 1 2038732 2038732 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2038732C>T ENST00000400921.2 + c.e2-27969C>T PRKCZ_ENST00000400920.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) AACACTGAGGCGGGATTGCGT 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 562PRKCZ 5590 __UNKNOWN__ hg19 1 2040898 2040898 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2040898T>C ENST00000400921.2 + c.e2-25803T>C PRKCZ_ENST00000400920.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) CTCACTGAATTGTCCTGAGAT 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 563PRKCZ 5590 __UNKNOWN__ hg19 1 2040936 2040936 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2040936T>C ENST00000400921.2 + c.e2-25765T>C PRKCZ_ENST00000400920.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) ATTAAACATGTGGATTGCAAC 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 564PRKCZ 5590 __UNKNOWN__ hg19 1 2069172 2069172 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2069172C>T ENST00000400921.2 + c.e2+2386C>T PRKCZ_ENST00000400920.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) TCCATTCTGCCGATGGCAGGT 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 565PRKCZ 5590 __UNKNOWN__ hg19 1 2069681 2069681 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2069681C>T ENST00000400921.2 + c.e2+2895C>T PRKCZ_ENST00000400920.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) GTTGGTGAAGCGAGGATGAAA 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 566PRKCZ 5590 __UNKNOWN__ hg19 1 2071340 2071340 + Intron SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2071340C>A ENST00000400921.2 + c.e3-4309C>A PRKCZ_ENST00000400920.1_Intron|PRKCZ_ENST00000479263.1_5'Flank NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) CATGGTAGGGCCACGTCTCTG 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 567PRKCZ 5590 __UNKNOWN__ hg19 1 2075653 2075653 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2075653C>T ENST00000400921.2 + 3 PRKCZ_ENST00000400920.1_5'UTR|RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_5'Flank NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) CTGCAGAGAGCGTACTGCGGT 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 568PRKCZ 5590 __UNKNOWN__ hg19 1 2075672 2075672 + 5'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2075672C>G ENST00000400921.2 + 3 PRKCZ_ENST00000400920.1_5'UTR|RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_5'Flank NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) GTCAGTGCAGCGAGAGGATAT 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 569PRKCZ 5590 __UNKNOWN__ hg19 1 2075740 2075740 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2075740G>A ENST00000400921.2 + 3 PRKCZ_ENST00000400920.1_5'UTR|RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_5'Flank NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) GTCCATAAGCGCTGCCACGGC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 570PRKCZ 5590 __UNKNOWN__ hg19 1 2075748 2075748 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2075748G>A ENST00000400921.2 + 3 PRKCZ_ENST00000400920.1_5'UTR|RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_5'Flank NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) GCGCTGCCACGGCCTCGTCCC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 571PRKCZ 5590 __UNKNOWN__ hg19 1 2076055 2076055 + Intron SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2076055G>A ENST00000400921.2 + c.e3+275G>A PRKCZ_ENST00000400920.1_Intron|RP5-892K4.1_ENST00000606533.1_RNA|PRKCZ_ENST00000479263.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) TCAGTGGGTCGGAGGTAAGGT 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 572PRKCZ 5590 __UNKNOWN__ hg19 1 2082566 2082566 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2082566T>C ENST00000400921.2 + c.e6+149T>C PRKCZ_ENST00000400920.1_Intron|PRKCZ_ENST00000479263.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) CATCGTGTAATGACCAGGATG 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 573PRKCZ 5590 __UNKNOWN__ hg19 1 2100840 2100840 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2100840C>T ENST00000400921.2 + c.e8-117C>T PRKCZ_ENST00000400920.1_Intron|PRKCZ_ENST00000479263.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) TTGCTCTTTGCAAGACTGAAC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 574PRKCZ 5590 __UNKNOWN__ hg19 1 2106745 2106745 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2106745G>A ENST00000400921.2 + 13 1702 c.1019G>A c.(1018-1020)tGg>tAg p.W340* PRKCZ_ENST00000400920.1_Nonsense_Mutation_p.W340*|PRKCZ_ENST00000479263.1_Intron NM_001033581.1 NP_001028753.1 Q05513 KPCZ_HUMAN protein kinase C zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton reorganization (GO:0031532)|activation of phospholipase D activity (GO:0031584)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|inflammatory response (GO:0006954)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|membrane hyperpolarization (GO:0060081)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of apoptotic process (GO:0043066)|negative regulation of hydrolase activity (GO:0051346)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein complex assembly (GO:0031333)|neuron projection extension (GO:1990138)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glucose import (GO:0046326)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T-helper 2 cell cytokine production (GO:2000553)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|protein heterooligomerization (GO:0051291)|protein kinase C signaling (GO:0070528)|protein localization to plasma membrane (GO:0072659)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle transport along microtubule (GO:0047496) apical cortex (GO:0045179)|apical plasma membrane (GO:0016324)|axon hillock (GO:0043203)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|myelin sheath abaxonal region (GO:0035748)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) ATP binding (GO:0005524)|insulin receptor substrate binding (GO:0043560)|potassium channel regulator activity (GO:0015459)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(238)|central_nervous_system(77)|haematopoietic_and_lymphoid_tissue(135)|kidney(66)|large_intestine(97)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(31)|soft_tissue(22)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1332 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tamoxifen(DB00675) AGCATAGACTGGGACTTGGTA 0.5885286783042394 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15108 HGNC:9412 Approved gene with protein product protein-coding gene "protein kinase C, zeta" PKC2 1p36.33 2016-10-05 2016-01-27 BC014270 2.7.11.1 ENSG00000067606 NM_002744 CCDS37, CCDS41229, CCDS55563 OTTHUMG00000001238 176982 NM_001033581 Q05513 ENSG00000067606 uc001aiq.3 A8K4N0|A8MU64|B7Z2J7|E9PCW2|Q15207|Q5SYT5|Q969S4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5590 false 575C1orf86 __UNKNOWN__ hg19 1 2125275 2125275 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2125275C>T ENST00000378546.4 - 3 298 c.273G>A c.(271-273)ccG>ccA p.P91P C1orf86_ENST00000378545.3_Silent_p.P194P|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_Intron NM_182533.2 NP_872339.2 Q6NZ36 FAP20_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGGTCCGGCGGAAAGGGTG 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 576C1orf86 __UNKNOWN__ hg19 1 2135002 2135002 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2135002C>T ENST00000378545.3 - C1orf86_ENST00000487186.1_Splice_Site NM_001282670.1 NP_001269599.1 Q6NZ36 FAP20_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCTCACCTGGGGTGGA 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 577C1orf86 __UNKNOWN__ hg19 1 2135002 2135002 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2135002C>T ENST00000378545.3 - C1orf86_ENST00000487186.1_Splice_Site NM_001282670.1 NP_001269599.1 Q6NZ36 FAP20_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCTCACCTGGGGTGGA 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 578C1orf86 __UNKNOWN__ hg19 1 2143168 2143168 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2143168A>G ENST00000487186.1 - c.e2-643T>C RP11-181G12.4_ENST00000442483.2_5'Flank Q6NZ36 FAP20_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985) cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634) K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTACAGGCATGAGCCACCG 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 579AL590822.1 __UNKNOWN__ hg19 1 2143491 2143491 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2143491G>A ENST00000545087.1 - 1 C1orf86_ENST00000487186.1_Intron|RP11-181G12.4_ENST00000442483.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGGCGCCCGCCACCACGCC 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL590822 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 580AL590822.1 __UNKNOWN__ hg19 1 2146966 2146966 + 5'Flank SNP T T C 7512482 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2146966T>C ENST00000545087.1 - RP11-181G12.4_ENST00000442483.2_RNA|RP11-181G12.5_ENST00000420964.1_5'Flank|C1orf86_ENST00000487186.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGACCTGCGTGAAGGAGCCC 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL590822 true false 0.7963,0.2037 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.761969,0.238031 false false false SNV 0x05010000000517053f000100 1 false 116 rs7512482 2146966 true 581SKI 6497 __UNKNOWN__ hg19 1 2156362 2156362 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2156362A>G ENST00000378536.4 + NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCTCAGGAAGAAAAGTGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 582SKI 6497 __UNKNOWN__ hg19 1 2173504 2173504 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2173504T>C ENST00000378536.4 + c.e1+12330T>C NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAATATCTTGTTGGGAGGCAG 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 583SKI 6497 __UNKNOWN__ hg19 1 2173811 2173811 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2173811C>T ENST00000378536.4 + c.e1+12637C>T NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTTGTTCACGTCAGGGGAG 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 584SKI 6497 __UNKNOWN__ hg19 1 2180524 2180524 + Intron SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2180524G>A ENST00000378536.4 + c.e1+19350G>A SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCAGATGCGGTCGAGTGCT 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 585SKI 6497 __UNKNOWN__ hg19 1 2184755 2184755 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2184755C>T ENST00000378536.4 + c.e1+23581C>T SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAGCACCCAGGCCGGTAT 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 586SKI 6497 __UNKNOWN__ hg19 1 2188679 2188679 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2188679C>T ENST00000378536.4 + c.e1+27505C>T SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTCCTCTGCATTCCTTTGG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 587SKI 6497 __UNKNOWN__ hg19 1 2189580 2189580 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2189580C>T ENST00000378536.4 + c.e1+28406C>T SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTATTTGCGACTTTAACCAGA 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 588SKI 6497 __UNKNOWN__ hg19 1 2202967 2202967 + Intron SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2202967T>C ENST00000378536.4 + c.e2-31450T>C SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCGCGGAGTGCCCGGCTGC 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 589SKI 6497 __UNKNOWN__ hg19 1 2211849 2211849 + Intron SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2211849A>G ENST00000378536.4 + c.e2-22568A>G SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCTTCTCACAAGGGGGCT 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 590SKI 6497 __UNKNOWN__ hg19 1 2216368 2216368 + Intron SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2216368T>G ENST00000378536.4 + c.e2-18049T>G SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGCACCATGCGGGCCTTT 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 591SKI 6497 __UNKNOWN__ hg19 1 2220649 2220649 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2220649C>T ENST00000378536.4 + c.e2-13768C>T SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGTTGAGCCTCTCTAGGCA 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 592SKI 6497 __UNKNOWN__ hg19 1 2223866 2223866 + Intron SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2223866C>T ENST00000378536.4 + c.e2-10551C>T SKI_ENST00000478223.2_Intron NM_003036.3 NP_003027.1 P12755 SKI_HUMAN SKI proto-oncogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|gene expression (GO:0010467)|lens morphogenesis in camera-type eye (GO:0002089)|myelination in peripheral nervous system (GO:0022011)|myotube differentiation (GO:0014902)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neural tube closure (GO:0001843)|nose morphogenesis (GO:0043585)|olfactory bulb development (GO:0021772)|palate development (GO:0060021)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|protein homotrimerization (GO:0070207)|regulation of apoptotic process (GO:0042981)|retina development in camera-type eye (GO:0060041)|skeletal muscle fiber development (GO:0048741)|SMAD protein signal transduction (GO:0060395)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053) chromatin binding (GO:0003682)|histone deacetylase inhibitor activity (GO:0046811)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|repressing transcription factor binding (GO:0070491)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22) 372 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTAGCAGACGTTCATCAGG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(177;144 1678 13697 20086 27838 40755) X15218 HGNC:10896 Approved gene with protein product protein-coding gene "v-ski avian sarcoma viral oncogene homolog" 1p36.33-p36.32 2017-06-08 2014-06-25 X15218 ENSG00000157933 2762147 NM_003036 748 SKI transcriptional corepressors CCDS39 OTTHUMG00000001407 164780 NM_003036 P12755 ENSG00000157933 uc001aja.5 Q5SYT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6497 false 593Unknown __UNKNOWN__ hg19 1 2242298 2242298 + IGR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2242298G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCATGCCGCATGCCAATT 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 594MORN1 79906 __UNKNOWN__ hg19 1 2254910 2254910 + Intron SNP T T C 2645075 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2254910T>C ENST00000378531.3 - c.e13-626A>G AL589739.1_ENST00000600779.1_5'Flank NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGCCGCGGTGCCCAGGTCC 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.1851,0.8149 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.184606,0.815394 false false false SNV 0x05010008000515053f000100 1 false 100 rs2645075 79906 2254910 true 595MORN1 79906 __UNKNOWN__ hg19 1 2261222 2261222 + Intron SNP C C A 2645065 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2261222C>A ENST00000378531.3 - c.e13+5640G>T RP4-713A8.1_ENST00000607720.1_5'Flank NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGATAGTGTTCCCCAAGGCCC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.9062,0.09385,. false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.878975,0.121025,. false false false SNV 0x05010008000515053f000100 1 false 100 rs2645065 79906 2261222 true 596MORN1 79906 __UNKNOWN__ hg19 1 2263888 2263888 + Intron SNP C C T 903904 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2263888C>T ENST00000378531.3 - c.e12-4020G>A MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGGGCGACCCCTGGCCCCG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.8397,0.1603 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.833665,0.166335 false false false SNV 0x05010008000515053f000101 1 false 86 rs903904 79906 2263888 true 597MORN1 79906 __UNKNOWN__ hg19 1 2268156 2268156 + Splice_Site SNP C C G 561543765 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2268156C>G ENST00000378531.3 - 11 1344 c.1170G>C c.(1168-1170)aaG>aaC p.K390N MORN1_ENST00000606372.1_Splice_Site NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCACCCACCTTGTGGAGGC 0.655860349127182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false false false false false false MORN1:79906 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05000402000100 1 false 142 rs561543765 79906 2268156 false 598MORN1 79906 __UNKNOWN__ hg19 1 2280661 2280661 + Intron SNP G G A 2055204 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2280661G>A ENST00000378531.3 - c.e10-8210C>T MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAGAGAAGAGAAAAGGAC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.5178,0.4822 false false 1 false true true MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.608455,0.391545 false false false SNV 0x05010008000517053f000101 1 false 94 rs2055204 79906 2280661 true 599MORN1 79906 __UNKNOWN__ hg19 1 2281726 2281726 + Intron SNP A A C 7527871 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2281726A>C ENST00000378531.3 - c.e10-7145T>G MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTCAACGAAATGCAAATCC 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.7979,0.2021 false false 1 false true false LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false true false false false false 0 true 0 false 0.850161,0.149839 false false false SNV 0x0501000c000515053f000100 1 false 116 rs7527871 79906 2281726 true 600MORN1 79906 __UNKNOWN__ hg19 1 2282135 2282135 + Intron SNP G G A 10910053 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2282135G>A ENST00000378531.3 - c.e10-6736C>T RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGGCCCTGGCCCAGCAGGA 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.6753,0.3247 false false 1 false true true LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.646507,0.353493 false false false SNV 0x05010008000517053f000100 1 false 120 rs10910053 79906 2282135 true 601MORN1 79906 __UNKNOWN__ hg19 1 2283117 2283117 + Intron SNP C C T 4648831 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2283117C>T ENST00000378531.3 - c.e10-5754G>A RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTTCTTCACGTGCTGGTTG 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.9077,.,0.09225 false false 1 false true false LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.881654,.,0.118346 false false false SNV 0x050100080005150537000101 1 false 111 rs4648831 79906 2283117 true 602MORN1 79906 __UNKNOWN__ hg19 1 2283313 2283313 + Intron SNP C C G 2843130 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2283313C>G ENST00000378531.3 - c.e10-5558G>C RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCGTTCCCCCAGATCCAATG 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.8155,0.1845 false false 1 false true false LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.881894,0.118106 false false false SNV 0x050100080005150537000100 1 false 100 rs2843130 79906 2283313 true 603MORN1 79906 __UNKNOWN__ hg19 1 2283896 2283896 + Intron SNP A A G 2840528 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2283896A>G ENST00000378531.3 - c.e10-4975T>C RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTAAAAGTAGCCACATCTC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.4283,0.5717 false false 1 false true false LOC100129534:100129534|MORN1:79906 true true true true true false true false false false false false false false false true false false false false false false 0 true 0 false 0.433272,0.566728 false false false SNV 0x05012008000515053f020101 1 false 100 rs2840528 79906 2283896 true 604MORN1 79906 __UNKNOWN__ hg19 1 2284003 2284003 + Intron SNP T T C 2645082 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2284003T>C ENST00000378531.3 - c.e10-4868A>G RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGCCACCTGAGGGGCTTG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.123,0.877 false false 1 false true false LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.153685,0.846315 false false false SNV 0x05010008000515053f000100 1 false 100 rs2645082 79906 2284003 true 605MORN1 79906 __UNKNOWN__ hg19 1 2284195 2284195 + Intron SNP T T C 3795272 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2284195T>C ENST00000378531.3 - c.e10-4676A>G RP4-740C4.6_ENST00000602865.1_RNA|MORN1_ENST00000606372.1_Intron NM_024848.1 NP_079124.1 Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGTACCCTGGAGATTTTC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.6893,0.3107 false false 1 false true true LOC100129534:100129534|MORN1:79906 true true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.711072,0.288928 false false false SNV 0x0501000a000517053f000100 1 false 107 rs3795272 79906 2284195 true 606MORN1 79906 __UNKNOWN__ hg19 1 2306695 2306695 + Intron SNP C C T 2279703 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2306695C>T ENST00000378529.3 - c.e7+699G>A MORN1_ENST00000378531.3_Intron|RP4-740C4.9_ENST00000606642.1_RNA|MORN1_ENST00000606372.1_Intron Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTCACTCTCTGGCAGGAGC 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.6216,0.3784 false false 1 false true true MORN1:79906 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.67223,0.32777 false false false SNV 0x05010008000517053f000100 1 false 100 rs2279703 79906 2306695 true 607MORN1 79906 __UNKNOWN__ hg19 1 2309082 2309082 + Intron SNP T T G 2843160 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2309082T>G ENST00000378529.3 - c.e7+3086A>C MORN1_ENST00000378531.3_Intron|RP4-740C4.8_ENST00000606280.1_RNA|MORN1_ENST00000606372.1_Intron|RP4-740C4.9_ENST00000606642.1_5'Flank Q5T089 MORN1_HUMAN MORN repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(8) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTGGAAGCTATGCCCTCTG 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021704 HGNC:25852 Approved gene with protein product protein-coding gene FLJ13941 1p36.32 2016-10-05 AK024003 ENSG00000116151 12477932 NM_024848 CCDS40, CCDS72688 OTTHUMG00000001402 NM_001301060 Q5T089 ENSG00000116151 uc001ajb.2 A6NKZ6|Q8WW30|Q9H852 true false 0.5102,0.4898 false false 1 false true false MORN1:79906 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.574559,0.425441 false false false SNV 0x05010008000515053f000100 1 false 100 rs2843160 79906 2309082 true 608RER1 11079 __UNKNOWN__ hg19 1 2327075 2327075 + 5'UTR SNP C C T 3736330 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327075C>T ENST00000488353.1 + 1 RER1_ENST00000605895.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron|MORN1_ENST00000378529.3_5'Flank|MORN1_ENST00000378531.3_5'Flank|MORN1_ENST00000606372.1_5'Flank O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340) cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACTTTTTCCCGAACAATTCA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:30309 Approved gene with protein product protein-coding gene "RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)" 1p36.32 2016-10-05 2013-10-18 AF157324 ENSG00000157916 9309388, 17668005 CCDS41232 OTTHUMG00000001403 NM_007033 O15258 ENSG00000157916 uc001aje.3 O95322 true false 0.7638,0.2362 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.789718,0.210282 false false false SNV 0x050100080005150537000100 1 false 107 rs3736330 11079 2327075 true 609RER1 11079 __UNKNOWN__ hg19 1 2327815 2327815 + Intron SNP C C T 2840532 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2327815C>T ENST00000605895.1 + c.e2+505C>T RER1_ENST00000488353.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron|MORN1_ENST00000378529.3_5'Flank|MORN1_ENST00000378531.3_5'Flank|MORN1_ENST00000606372.1_5'Flank NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340) cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTGGGTCACCGGCAGTTCCA 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:30309 Approved gene with protein product protein-coding gene "RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)" 1p36.32 2016-10-05 2013-10-18 AF157324 ENSG00000157916 9309388, 17668005 CCDS41232 OTTHUMG00000001403 NM_007033 O15258 ENSG00000157916 uc001aje.3 O95322 true false 0.4758,0.5242 false false 1 false true false RER1:11079 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.482588,0.517412 false false false SNV 0x05010008000515053f000101 1 false 100 rs2840532 11079 2327815 true 610RER1 11079 __UNKNOWN__ hg19 1 2330190 2330190 + Intron SNP T T G 6693447 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2330190T>G ENST00000605895.1 + c.e4-664T>G RER1_ENST00000488353.1_Intron|RER1_ENST00000378512.1_Intron|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340) cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTTAATCATTTTAAAAAAT 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:30309 Approved gene with protein product protein-coding gene "RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)" 1p36.32 2016-10-05 2013-10-18 AF157324 ENSG00000157916 9309388, 17668005 CCDS41232 OTTHUMG00000001403 NM_007033 O15258 ENSG00000157916 uc001aje.3 O95322 true false 0.6514,0.3486 false false 1 false true true RER1:11079 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.627584,0.372416 false false false SNV 0x05010008000517053f000100 1 false 116 rs6693447 11079 2330190 true 611RER1 11079 __UNKNOWN__ hg19 1 2330953 2330953 + Splice_Site SNP G G A 769814129 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2330953G>A ENST00000605895.1 + 4 419 c.286G>A c.(286-288)Gat>Aat p.D96N RER1_ENST00000488353.1_Splice_Site_p.D96N|RER1_ENST00000378512.1_Splice_Site_p.D96N|RER1_ENST00000378518.1_Intron|RER1_ENST00000378513.3_Intron NM_007033.4 NP_008964.3 O15258 RER1_HUMAN retention in endoplasmic reticulum sorting receptor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340) cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGACTCAGGTAGGGTAGC 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471183 HGNC:30309 Approved gene with protein product protein-coding gene "RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)" 1p36.32 2016-10-05 2013-10-18 AF157324 ENSG00000157916 9309388, 17668005 CCDS41232 OTTHUMG00000001403 NM_007033 O15258 ENSG00000157916 uc001aje.3 O95322 true false false false false false false RER1:11079 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05000402000100 1 false 144 rs769814129 11079 2330953 false 612Unknown __UNKNOWN__ hg19 1 2351699 2351699 + IGR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2351699T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCAGCACCTACCTCTTGTC 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 613Unknown __UNKNOWN__ hg19 1 2352146 2352146 + IGR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2352146C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAAAATCTCCTCTTCAGGCC 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 614Unknown __UNKNOWN__ hg19 1 2358944 2358944 + IGR SNP A A C 10797423 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2358944A>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGGAGAGGGAGCCCCTCTGT 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6398,0.3602,. false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.642214,0.357786,. false false false SNV 0x05010000000517053f000100 1 false 120 rs10797423 2358944 true 615Unknown __UNKNOWN__ hg19 1 2359917 2359917 + IGR SNP T T C 2494436 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2359917T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGTCCTGCATGGGGTCCTGC 0.685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2606,0.7394 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.2823,0.7177 false false false SNV 0x05010000000517053f000100 1 false 100 rs2494436 2359917 true 616Unknown __UNKNOWN__ hg19 1 2359940 2359940 + IGR SNP C C T 7515934 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2359940C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGCTCGCCCGGTGCCGTGC 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8113,0.1887 false false 1 false true false true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.85758,0.14242 false false false SNV 0x050100000005150537000100 1 false 116 rs7515934 2359940 true 617Unknown __UNKNOWN__ hg19 1 2362827 2362827 + IGR SNP C C T 2494641 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2362827C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGGTGGCTCCGGCTTGTCAA 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6795,0.3205 false false 1 false true true true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.714403,0.285597 false false false SNV 0x05010000000517053f000100 1 false 100 rs2494641 2362827 true 618Unknown __UNKNOWN__ hg19 1 2366611 2366611 + IGR SNP G G A 75631842 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2366611G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACCAGGACGAAGGAGAGCA 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8618,0.1382 false false 1 false true false true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.882341,0.117659 false false false SNV 0x050100000005150536000100 1 false 131 rs75631842 2366611 true 619Unknown __UNKNOWN__ hg19 1 2368232 2368232 + IGR SNP T T C 4233033 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2368232T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGTGGGCACTGTGGCTCCTG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3239,0.6761 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.423243,0.576757 false false false SNV 0x05010000000517053e000100 1 false 111 rs4233033 2368232 true 620Unknown __UNKNOWN__ hg19 1 2368706 2368706 + IGR SNP T T C 2494439 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2368706T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGCCCCTCTTCTCTGAGCA 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4397,0.5603 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.549042,0.450958 false false false SNV 0x05010000000517053e000100 1 false 100 rs2494439 2368706 true 621Unknown __UNKNOWN__ hg19 1 2368775 2368775 + IGR SNP T T C 2494639 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2368775T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGCCCAGCTCCTACTCCTG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3782,0.6218 false false 1 false true true true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.48197,0.51803 false false false SNV 0x05010000000517053e000100 1 false 100 rs2494639 2368775 true 622Unknown __UNKNOWN__ hg19 1 2369375 2369375 + IGR SNP G G A 80047719 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2369375G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTGGCCTCGAAGGCCTTCC 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.9545,0.04553 false false 1 false true false true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.951508,0.0484923 false false false SNV 0x050100000005150536000100 1 false 132 rs80047719 2369375 true 623Unknown __UNKNOWN__ hg19 1 2369498 2369498 + IGR SNP T T C 4592207 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2369498T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTTGGCAACTTGGTTGTGTG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.472,0.528 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.601346,0.398654 false false false SNV 0x05010000000517053e000100 1 false 111 rs4592207 2369498 true 624Unknown __UNKNOWN__ hg19 1 2372320 2372320 + IGR SNP A A G 12033966 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2372320A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCTTGGCCACGTCCCCCCG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8976,0.1024 false false 1 false true false true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.938938,0.0610619 false false false SNV 0x05010000000515013e000100 1 false 120 rs12033966 2372320 true 625Unknown __UNKNOWN__ hg19 1 2372321 2372321 + IGR SNP C C T 58946679 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2372321C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTTGGCCACGTCCCCCCGG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6154,0.3846 false false 1 false true true true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.708462,0.291538 false false false SNV 0x050100000005170136000100 1 false 129 rs58946679 2372321 true 626Unknown __UNKNOWN__ hg19 1 2372397 2372397 + IGR SNP A A G 6688934 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2372397A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACAACTGCCAAGATCTGGCT 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.281,0.719 false false 1 false true true true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.36462,0.63538 false false false SNV 0x05010000000517013e000100 1 false 116 rs6688934 2372397 true 627Unknown __UNKNOWN__ hg19 1 2372858 2372858 + IGR SNP T T C 2494425 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2372858T>C no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCTGGGGATGTTCATTCAC 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.2019,0.7981 false false 1 false true false true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.272752,0.727248 false false false SNV 0x05010000000515013e000100 1 false 100 rs2494425 2372858 true 628Unknown __UNKNOWN__ hg19 1 2373089 2373089 + IGR SNP G G T 6659405 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2373089G>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCCCTGGTGTAGGGGTAAG 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6641,0.3359 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.745278,0.254722 false false false SNV 0x05010000000517053f000100 1 false 116 rs6659405 2373089 true 629Unknown __UNKNOWN__ hg19 1 2381622 2381622 + IGR SNP A A G 867809 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2381622A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGGCCTCGACGGGGGGGCA 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.531,0.469 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.598599,0.401401 false false false SNV 0x05010000000517053e000100 1 false 86 rs867809 2381622 true 630Unknown __UNKNOWN__ hg19 1 2383756 2383756 + IGR SNP A A G 10797425 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2383756A>G no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGCCTGGCAGGTAGCAGCC 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4669,0.5331 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.532592,0.467408 false false false SNV 0x05010000000517053e000100 1 false 120 rs10797425 2383756 true 631Unknown __UNKNOWN__ hg19 1 2387101 2387101 + IGR SNP C C T 4648845 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2387101C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGAGCAGTCAGAAGCTTCA 0.6807980049875312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3766,0.6234 false false 1 false true true true true false true true false true false false false false false false false false true true false false false false false 0 true 0 false 0.514905,0.485095 false false false SNV 0x05012800000517053f020100 1 false 111 rs4648845 2387101 true 632Unknown __UNKNOWN__ hg19 1 2387269 2387269 + IGR SNP G G A 61763911 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2387269G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCCCGGCCGTGCCCCGGTC 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7384,0.2616 false false 1 false true true true false false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.770486,0.229514 false false false SNV 0x050100000005170136000100 1 false 129 rs61763911 2387269 true 633Unknown __UNKNOWN__ hg19 1 2387715 2387715 + IGR SNP C C T 12037821 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2387715C>T no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGCGCAGCCCCCCCAGTTC 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8452,.,.,0.1548 false false 1 false true false true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.908201,.,.,0.0917989 false false false SNV 0x050100000005150536000100 1 false 120 rs12037821 2387715 true 634Unknown __UNKNOWN__ hg19 1 2389152 2389152 + IGR SNP G G A 4648846 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2389152G>A no_transcript __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCAAAGGCGAAGGTGGCTC 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6532,0.3468 false false 1 false true true true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.739078,0.260922 false false false SNV 0x05010000000517053e000100 1 false 111 rs4648846 2389152 true 635PLCH2 9651 __UNKNOWN__ hg19 1 2420787 2420787 + Silent SNP A A T 202216018 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2420787A>T ENST00000419816.2 + 9 1651 c.1377A>T c.(1375-1377)ccA>ccT p.P459P PLCH2_ENST00000449969.1_Silent_p.P432P|PLCH2_ENST00000378486.3_Silent_p.P459P|PLCH2_ENST00000378488.3_Silent_p.P459P|PLCH2_ENST00000288766.5_Intron O75038 PLCH2_HUMAN phospholipase C eta 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(46)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|skin(43) 228 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCCTCTCCACAGATGCTCA 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ176850 HGNC:29037 Approved gene with protein product protein-coding gene PLCL4 "phospholipase C-like 4", "phospholipase C, eta 2" KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2 "1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase eta-2" 1p36.32 2015-11-17 2006-03-16 2015-11-17 AB007919 3.1.4.11 ENSG00000149527 15899900 NM_014638 467|863 Phospholipases|EF-hand domain containing CCDS59959 OTTHUMG00000000719 612836 NM_001303012 O75038 ENSG00000149527 uc057bmp.1 A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6 true false false false false false false PLCH2:9651 false true false false false false false false false false false false false false false false false false false true false true 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x050200000305040402000100 1 false 137 rs202216018 9651 2420787 true 636PANK4 55229 __UNKNOWN__ hg19 1 2440415 2440415 + Silent SNP G G A 141941464 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2440415G>A ENST00000378466.3 - 19 2206 c.2193C>T c.(2191-2193)caC>caT p.H731H PANK4_ENST00000435556.3_Silent_p.H692H NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ coenzyme A biosynthetic process (GO:0015937) cytoplasm (GO:0005737) ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594) biliary_tract(2)|breast(48)|central_nervous_system(22)|large_intestine(37)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(121) 276 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAGTTTGTGTGGACAGCAC 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:19366 Approved gene with protein product protein-coding gene FLJ10782 1p36.32 2015-08-25 AK001644 ENSG00000157881 11479594 CCDS42 OTTHUMG00000000791 606162 NM_018216 Q9NVE7 ENSG00000157881 uc001ajm.3 B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5 true false 0.9996,0.0003994 false false 0 false false false PANK4:55229 false true false false true false false false false false false false false false false false false false false true false true 0 true 0 true 0.998523,0.00147675 false false false SNV 0x050300000305040426000100 1 false 134 rs141941464 55229 2440415 true 637PANK4 55229 __UNKNOWN__ hg19 1 2440415 2440415 + Silent SNP G G A 141941464 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2440415G>A ENST00000378466.3 - 19 2206 c.2193C>T c.(2191-2193)caC>caT p.H731H PANK4_ENST00000435556.3_Silent_p.H692H NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ coenzyme A biosynthetic process (GO:0015937) cytoplasm (GO:0005737) ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594) biliary_tract(2)|breast(48)|central_nervous_system(22)|large_intestine(37)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(121) 276 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTAGTTTGTGTGGACAGCAC 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:19366 Approved gene with protein product protein-coding gene FLJ10782 1p36.32 2015-08-25 AK001644 ENSG00000157881 11479594 CCDS42 OTTHUMG00000000791 606162 NM_018216 Q9NVE7 ENSG00000157881 uc001ajm.3 B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5 true false 0.9996,0.0003994 false false 0 false false false PANK4:55229 false true false false true false false false false false false false false false false false false false false true false true 0 true 0 true 0.998523,0.00147675 false false false SNV 0x050300000305040426000100 1 false 134 rs141941464 55229 2440415 true 638PANK4 55229 __UNKNOWN__ hg19 1 2450734 2450734 + Frame_Shift_Del DEL G G - 764053138 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2450734delG ENST00000378466.3 - 7 897 c.883delC c.(883-885)ctgfs p.L295fs PANK4_ENST00000435556.3_Frame_Shift_Del_p.L256fs NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ coenzyme A biosynthetic process (GO:0015937) cytoplasm (GO:0005737) ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594) biliary_tract(2)|breast(48)|central_nervous_system(22)|large_intestine(37)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(121) 276 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTGCAGCAGGCTCTTCGCC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:19366 Approved gene with protein product protein-coding gene FLJ10782 1p36.32 2015-08-25 AK001644 ENSG00000157881 11479594 CCDS42 OTTHUMG00000000791 606162 NM_018216 Q9NVE7 ENSG00000157881 uc001ajm.3 B9DI84|Q53EU3|Q5TA84|Q7RTX3|Q9H3X5 true false false false false false false PANK4:55229 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs764053138 55229 2450734 false 639HES5 388585 __UNKNOWN__ hg19 1 2461316 2461316 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2461316C>T ENST00000378453.3 - 2 270 c.189G>A c.(187-189)gaG>gaA p.E63E PANK4_ENST00000378466.3_5'Flank|PANK4_ENST00000435556.3_5'Flank|PANK4_ENST00000491212.1_5'Flank NM_001010926.3 NP_001010926.1 Q5TA89 HES5_HUMAN hes family bHLH transcription factor 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ astrocyte differentiation (GO:0048708)|auditory receptor cell differentiation (GO:0042491)|auditory receptor cell fate determination (GO:0042668)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cartilage development (GO:0051216)|cell adhesion (GO:0007155)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|comma-shaped body morphogenesis (GO:0072049)|forebrain radial glial cell differentiation (GO:0021861)|glial cell fate commitment (GO:0021781)|metanephric nephron tubule morphogenesis (GO:0072282)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of forebrain neuron differentiation (GO:2000978)|negative regulation of inner ear receptor cell differentiation (GO:2000981)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein complex assembly (GO:0006461)|regulation of cell differentiation (GO:0045595)|regulation of myelination (GO:0031641)|regulation of neurogenesis (GO:0050767)|S-shaped body morphogenesis (GO:0072050)|smoothened signaling pathway (GO:0007224)|specification of loop of Henle identity (GO:0072086)|telencephalon development (GO:0021537) nucleoplasm (GO:0005654) chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription factor binding (GO:0008134) biliary_tract(2)|breast(185)|central_nervous_system(44)|large_intestine(11)|lung(134)|ovary(58)|pancreas(30)|prostate(58) 522 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACAGCCATCTCCAGGATGT 0.7231920199501247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ272660 HGNC:19764 Approved gene with protein product protein-coding gene "hairy and enhancer of split 5 (Drosophila)" bHLHb38 1p36.32 2016-10-05 2013-10-17 AL139246 ENSG00000197921 7836401 420 Basic helix-loop-helix proteins CCDS41233 OTTHUMG00000000793 607348 NM_001010926 Q5TA89 ENSG00000197921 uc001ajn.3 B9DI85 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388585 false 640TNFRSF14 8764 __UNKNOWN__ hg19 1 2493130 2493130 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2493130G>A ENST00000355716.4 + 6 869 c.570G>A c.(568-570)acG>acA p.T190T TNFRSF14_ENST00000409119.1_3'UTR|RP3-395M20.8_ENST00000416860.2_5'Flank|RP3-395M20.8_ENST00000452793.1_5'Flank|RP3-395M20.7_ENST00000456687.3_5'Flank NM_003820.2 NP_003811.2 Q92956 TNR14_HUMAN TNF receptor superfamily member 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of T cell migration (GO:2000406)|T cell costimulation (GO:0031295)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618) NS(200)|biliary_tract(2)|bone(27)|breast(31)|central_nervous_system(61)|haematopoietic_and_lymphoid_tissue(659)|kidney(209)|large_intestine(11)|lung(84)|ovary(14)|pancreas(51)|salivary_gland(15)|soft_tissue(30)|stomach(121)|thymus(10)|upper_aerodigestive_tract(120) 1645 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGGTGACGAAGGCCGGAG 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ "Mis, N, F" follicular lymphoma __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ "tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)" 8764 1 1p36.32 yes L Rec U81232 HGNC:11912 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator)", "tumor necrosis factor receptor superfamily, member 14" HVEM, ATAR, TR2, LIGHTR, HVEA, CD270 "herpesvirus entry mediator" 1p36.32 2016-06-28 2016-06-28 U70321 ENSG00000157873 8898196, 9162061 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS44046 OTTHUMG00000000792 602746 NM_001297605 Q92956 ENSG00000157873 uc001ajr.4 B3KW30|B9DI89|Q6IB95|Q8N634|Q8WXR1|Q96J31|Q9UM65 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8764 false 641FAM213B 127281 __UNKNOWN__ hg19 1 2513216 2513216 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2513216C>T ENST00000419916.2 + RP3-395M20.9_ENST00000424215.1_RNA NM_152371.3 NP_689584.2 Q8TBF2 PGFS_HUMAN family with sequence similarity 213 member B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209) oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGAAAAGCACAACAGAGAAC 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:28390 Approved gene with protein product protein-coding gene C1orf93 "chromosome 1 open reading frame 93", "family with sequence similarity 213, member B" MGC26818 "prostamide/prostaglandin F synthase", "thioredoxin-type PGF synthase" 1p36.32 2017-08-18 2011-11-24 2015-11-18 AK075273 1.11.1.20 ENSG00000157870 18006499, 20950588 NM_152371 CCDS44, CCDS55564, CCDS72690, CCDS72691 OTTHUMG00000000847 NM_001195736 Q8TBF2 ENSG00000157870 uc001aju.4 A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127281 false 642FAM213B 127281 __UNKNOWN__ hg19 1 2519989 2519989 + Splice_Site SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2519989G>T ENST00000378424.4 + 5 545 c.529G>T c.(529-531)Gcc>Tcc p.A177S FAM213B_ENST00000419916.2_Splice_Site_p.A159S|FAM213B_ENST00000378425.5_Splice_Site_p.A129S|FAM213B_ENST00000444521.2_Splice_Site_p.A147S|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000484099.1_Intron Q8TBF2 PGFS_HUMAN family with sequence similarity 213 member B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209) oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCTGACAGGCCAAGGCTGT 0.6359102244389028 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AL139246 HGNC:28390 Approved gene with protein product protein-coding gene C1orf93 "chromosome 1 open reading frame 93", "family with sequence similarity 213, member B" MGC26818 "prostamide/prostaglandin F synthase", "thioredoxin-type PGF synthase" 1p36.32 2017-08-18 2011-11-24 2015-11-18 AK075273 1.11.1.20 ENSG00000157870 18006499, 20950588 NM_152371 CCDS44, CCDS55564, CCDS72690, CCDS72691 OTTHUMG00000000847 NM_001195736 Q8TBF2 ENSG00000157870 uc001aju.4 A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127281 false 643MMEL1 79258 __UNKNOWN__ hg19 1 2526245 2526245 + Nonsense_Mutation SNP T T A 200758088 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2526245T>A ENST00000378412.3 - 17 1834 c.1672A>T c.(1672-1674)Aag>Tag p.K558* MMEL1_ENST00000502556.1_Nonsense_Mutation_p.K401*|MMEL1_ENST00000288709.6_Nonsense_Mutation_p.K549* Q495T6 MMEL1_HUMAN membrane metalloendopeptidase like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCCACCTTTTCCCGAAGC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:14668 Approved gene with protein product protein-coding gene MMEL2 "membrane metallo-endopeptidase-like 2" SEP, NL1, NL2, NEPII 1p36.32 2016-10-05 2016-08-10 AF336981 ENSG00000142606 NM_033467 1439 M13 metallopeptidases CCDS30569 OTTHUMG00000000846 NM_033467 Q495T6 ENSG00000142606 uc001ajy.3 B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9 true false false false false false false MMEL1:79258 false true false false false false false false false false false false true false false false false false false true false true 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050200000605040402000100 1 false 137 rs200758088 79258 2526245 true 644MMEL1 79258 __UNKNOWN__ hg19 1 2530219 2530219 + Nonsense_Mutation SNP C C T 768914853 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2530219C>T ENST00000378412.3 - 12 1214 c.1052G>A c.(1051-1053)tGg>tAg p.W351* MMEL1_ENST00000502556.1_Nonsense_Mutation_p.W194*|MMEL1_ENST00000288709.6_Nonsense_Mutation_p.W342* Q495T6 MMEL1_HUMAN membrane metalloendopeptidase like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAACAGAGTCCAGTTAAATCC 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:14668 Approved gene with protein product protein-coding gene MMEL2 "membrane metallo-endopeptidase-like 2" SEP, NL1, NL2, NEPII 1p36.32 2016-10-05 2016-08-10 AF336981 ENSG00000142606 NM_033467 1439 M13 metallopeptidases CCDS30569 OTTHUMG00000000846 NM_033467 Q495T6 ENSG00000142606 uc001ajy.3 B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9 true false false false false false false MMEL1:79258 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 144 rs768914853 79258 2530219 false 645MMEL1 79258 __UNKNOWN__ hg19 1 2541269 2541269 + Splice_Site SNP A A G 10797440 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2541269A>G ENST00000378412.3 - 5 456 c.294T>C c.(292-294)gcT>gcC p.A98A MMEL1_ENST00000502556.1_Splice_Site_p.A98A|MMEL1_ENST00000288709.6_Splice_Site_p.A89A Q495T6 MMEL1_HUMAN membrane metalloendopeptidase like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATCCTGGCAGCTGCTCGTC 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:14668 Approved gene with protein product protein-coding gene MMEL2 "membrane metallo-endopeptidase-like 2" SEP, NL1, NL2, NEPII 1p36.32 2016-10-05 2016-08-10 AF336981 ENSG00000142606 NM_033467 1439 M13 metallopeptidases CCDS30569 OTTHUMG00000000846 NM_033467 Q495T6 ENSG00000142606 uc001ajy.3 B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9 true false 0.4685,0.5315 false false 1 false true true MMEL1:79258 true true false true true false false false false false false false false false false false false false false true false true 0 true 0 true 0.525414,0.474586 false false false SNV 0x05030000030517053f000100 1 false 120 rs10797440 79258 2541269 true 646MMEL1 79258 __UNKNOWN__ hg19 1 2541269 2541269 + Splice_Site SNP A A G 10797440 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2541269A>G ENST00000378412.3 - 5 456 c.294T>C c.(292-294)gcT>gcC p.A98A MMEL1_ENST00000502556.1_Splice_Site_p.A98A|MMEL1_ENST00000288709.6_Splice_Site_p.A89A Q495T6 MMEL1_HUMAN membrane metalloendopeptidase like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATCCTGGCAGCTGCTCGTC 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:14668 Approved gene with protein product protein-coding gene MMEL2 "membrane metallo-endopeptidase-like 2" SEP, NL1, NL2, NEPII 1p36.32 2016-10-05 2016-08-10 AF336981 ENSG00000142606 NM_033467 1439 M13 metallopeptidases CCDS30569 OTTHUMG00000000846 NM_033467 Q495T6 ENSG00000142606 uc001ajy.3 B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9 true false 0.4685,0.5315 false false 1 false true true MMEL1:79258 true true false true true false false false false false false false false false false false false false false true false true 0 true 0 true 0.525414,0.474586 false false false SNV 0x05030000030517053f000100 1 false 120 rs10797440 79258 2541269 true 647MMEL1 79258 __UNKNOWN__ hg19 1 2542778 2542778 + Splice_Site SNP C C T 201188524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2542778C>T ENST00000378412.3 - 4 396 c.234G>A c.(232-234)ggG>ggA p.G78G MMEL1_ENST00000502556.1_Splice_Site_p.G78G|MMEL1_ENST00000288709.6_Splice_Site_p.G69G Q495T6 MMEL1_HUMAN membrane metalloendopeptidase like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTGGGATCCCTGCGGGCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:14668 Approved gene with protein product protein-coding gene MMEL2 "membrane metallo-endopeptidase-like 2" SEP, NL1, NL2, NEPII 1p36.32 2016-10-05 2016-08-10 AF336981 ENSG00000142606 NM_033467 1439 M13 metallopeptidases CCDS30569 OTTHUMG00000000846 NM_033467 Q495T6 ENSG00000142606 uc001ajy.3 B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9 true false false false false false false MMEL1:79258 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x050000000305000402000100 1 false 137 rs201188524 79258 2542778 false 648MMEL1 79258 __UNKNOWN__ hg19 1 2542778 2542778 + Splice_Site SNP C C T 201188524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2542778C>T ENST00000378412.3 - 4 396 c.234G>A c.(232-234)ggG>ggA p.G78G MMEL1_ENST00000502556.1_Splice_Site_p.G78G|MMEL1_ENST00000288709.6_Splice_Site_p.G69G Q495T6 MMEL1_HUMAN membrane metalloendopeptidase like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTGGGATCCCTGCGGGCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471183 HGNC:14668 Approved gene with protein product protein-coding gene MMEL2 "membrane metallo-endopeptidase-like 2" SEP, NL1, NL2, NEPII 1p36.32 2016-10-05 2016-08-10 AF336981 ENSG00000142606 NM_033467 1439 M13 metallopeptidases CCDS30569 OTTHUMG00000000846 NM_033467 Q495T6 ENSG00000142606 uc001ajy.3 B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9 true false false false false false false MMEL1:79258 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x050000000305000402000100 1 false 137 rs201188524 79258 2542778 false 649MMEL1 79258 __UNKNOWN__ hg19 1 2564465 2564465 + 5'UTR SNP T T C 12752515 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2564465T>C ENST00000288709.6 - 1 MMEL1_ENST00000378412.3_5'Flank|MMEL1_ENST00000502556.1_5'Flank|RP13-436F16.1_ENST00000427302.1_RNA|MMEL1_ENST00000511099.1_5'Flank NM_033467.3 NP_258428.2 Q495T6 MMEL1_HUMAN membrane metalloendopeptidase like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGGCTTCTGGGCCTCCTT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471183 HGNC:14668 Approved gene with protein product protein-coding gene MMEL2 "membrane metallo-endopeptidase-like 2" SEP, NL1, NL2, NEPII 1p36.32 2016-10-05 2016-08-10 AF336981 ENSG00000142606 NM_033467 1439 M13 metallopeptidases CCDS30569 OTTHUMG00000000846 NM_033467 Q495T6 ENSG00000142606 uc001ajy.3 B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9 true false 0.4824,0.5176 false false 1 false true true MMEL1:79258 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.403943,0.596057 false false true SNV 0x050100400a0517053e000100 1 false 121 rs12752515 79258 2564465 true 650ACTRT2 140625 __UNKNOWN__ hg19 1 2938265 2938265 + Silent SNP C C T 4576609 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2938265C>T ENST00000378404.2 + 1 220 c.15C>T c.(13-15)caC>caT p.H5H NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin related protein T2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAATCCGCACGCTTTAGACT 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471248 HGNC:24026 Approved gene with protein product protein-coding gene Arp-T2, ARPM2, FLJ25424 1p36.32 2016-10-05 2015-12-01 AF440740, AB057364 ENSG00000169717 11750065, 12243744 NM_080431 1436 Actin related proteins CCDS45 OTTHUMG00000000562 608535 NM_080431 Q8TDY3 ENSG00000169717 uc001ajz.4 B1AN52|Q8NHS6|Q8TDG1 true false 0.7983,.,0.2017 false false 1 false true true ACTRT2:140625 true true false true true false false false false false false false false false false false false false false true false false 0 true 0 true 0.836974,3.4343e-005,0.162992 false false false SNV 0x05010000030517053e000100 1 false 111 rs4576609 140625 2938265 true 651ACTRT2 140625 __UNKNOWN__ hg19 1 2939409 2939409 + 3'UTR SNP G G T 12564513 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2939409G>T ENST00000378404.2 + 1 NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin related protein T2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|cytoskeleton (GO:0005856) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTACCGTGGGGGGTGAAC 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471248 HGNC:24026 Approved gene with protein product protein-coding gene Arp-T2, ARPM2, FLJ25424 1p36.32 2016-10-05 2015-12-01 AF440740, AB057364 ENSG00000169717 11750065, 12243744 NM_080431 1436 Actin related proteins CCDS45 OTTHUMG00000000562 608535 NM_080431 Q8TDY3 ENSG00000169717 uc001ajz.4 B1AN52|Q8NHS6|Q8TDG1 true false 0.9215,0.0003994,.,0.07808 false false 1 false true false ACTRT2:140625 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.964764,.,3.4343e-005,0.0352016 false true false SNV 0x050100800005150537000100 1 false 120 rs12564513 140625 2939409 true 652PRDM16 63976 __UNKNOWN__ hg19 1 2983674 2983674 + 5'Flank SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:2983674T>G ENST00000270722.5 + PRDM16_ENST00000378391.2_5'Flank|PRDM16_ENST00000378398.3_5'Flank|PRDM16_ENST00000441472.2_5'Flank|PRDM16_ENST00000442529.2_5'Flank|PRDM16_ENST00000511072.1_5'Flank|PRDM16_ENST00000514189.1_5'Flank|LINC00982_ENST00000445317.1_RNA|LINC00982_ENST00000321336.1_RNA|LINC00982_ENST00000321399.3_5'Flank|LINC00982_ENST00000415573.1_5'Flank|LINC00982_ENST00000606861.1_5'Flank Q9HAZ2 PRD16_HUMAN PR/SET domain 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|kidney(180)|large_intestine(70)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1)|upper_aerodigestive_tract(28) 792 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGAGCAGGTTCAGAACCGG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ T EVI1 "MDS, AML" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ PR domain containing 16 63976 1 1p36.23-p33 yes L Dom BC161614 HGNC:14000 Approved gene with protein product protein-coding gene "PR domain containing 16", "PR domain 16" MEL1, PFM13, KIAA1675, MGC166915, KMT8F "MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1" 1p36.32 2016-11-03 2016-07-18 AF294278 ENSG00000142611 11050005, 27151440 NM_022114 487|1197|28 Lysine methyltransferases|PR/SET domain family|Zinc fingers C2H2-type CCDS41236, CCDS44048 OTTHUMG00000000581 605557 NM_022114 Q9HAZ2 ENSG00000142611 uc001akf.4 A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63976 false 653PRDM16 63976 __UNKNOWN__ hg19 1 3301715 3301715 + Splice_Site SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3301715G>C ENST00000270722.5 + c.e4-1G>C c.e4-1 PRDM16_ENST00000511072.1_Missense_Mutation_p.Q147H|PRDM16_ENST00000514189.1_Missense_Mutation_p.Q147H|PRDM16_ENST00000378391.2_Splice_Site|PRDM16_ENST00000441472.2_Splice_Site|PRDM16_ENST00000442529.2_Splice_Site|PRDM16_ENST00000378398.3_Splice_Site|PRDM16_ENST00000512462.1_Splice_Site Q9HAZ2 PRD16_HUMAN PR/SET domain 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|kidney(180)|large_intestine(70)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1)|upper_aerodigestive_tract(28) 792 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCCCAGCAGATCTCCGAAG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ T EVI1 "MDS, AML" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON PR domain containing 16 63976 1 1p36.23-p33 yes L Dom BC161614 HGNC:14000 Approved gene with protein product protein-coding gene "PR domain containing 16", "PR domain 16" MEL1, PFM13, KIAA1675, MGC166915, KMT8F "MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1" 1p36.32 2016-11-03 2016-07-18 AF294278 ENSG00000142611 11050005, 27151440 NM_022114 487|1197|28 Lysine methyltransferases|PR/SET domain family|Zinc fingers C2H2-type CCDS41236, CCDS44048 OTTHUMG00000000581 605557 NM_022114 Q9HAZ2 ENSG00000142611 uc001akf.4 A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63976 false 654PRDM16 63976 __UNKNOWN__ hg19 1 3327949 3327949 + Splice_Site SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3327949T>C ENST00000270722.5 + 9 1237 c.1188T>C c.(1186-1188)tgT>tgC p.C396C PRDM16_ENST00000378391.2_Splice_Site_p.C396C|PRDM16_ENST00000511072.1_Splice_Site_p.C397C|PRDM16_ENST00000514189.1_Splice_Site_p.C397C|PRDM16_ENST00000441472.2_Splice_Site_p.C396C|PRDM16_ENST00000442529.2_Splice_Site_p.C396C|PRDM16_ENST00000378398.3_Splice_Site_p.C397C|PRDM16_ENST00000512462.1_Splice_Site Q9HAZ2 PRD16_HUMAN PR/SET domain 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|kidney(180)|large_intestine(70)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1)|upper_aerodigestive_tract(28) 792 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTTTAGGTGAGGTCTGCC 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ T EVI1 "MDS, AML" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT PR domain containing 16 63976 1 1p36.23-p33 yes L Dom BC161614 HGNC:14000 Approved gene with protein product protein-coding gene "PR domain containing 16", "PR domain 16" MEL1, PFM13, KIAA1675, MGC166915, KMT8F "MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1" 1p36.32 2016-11-03 2016-07-18 AF294278 ENSG00000142611 11050005, 27151440 NM_022114 487|1197|28 Lysine methyltransferases|PR/SET domain family|Zinc fingers C2H2-type CCDS41236, CCDS44048 OTTHUMG00000000581 605557 NM_022114 Q9HAZ2 ENSG00000142611 uc001akf.4 A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63976 false 655PRDM16 63976 __UNKNOWN__ hg19 1 3327949 3327949 + Splice_Site SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3327949T>C ENST00000270722.5 + 9 1237 c.1188T>C c.(1186-1188)tgT>tgC p.C396C PRDM16_ENST00000378391.2_Splice_Site_p.C396C|PRDM16_ENST00000511072.1_Splice_Site_p.C397C|PRDM16_ENST00000514189.1_Splice_Site_p.C397C|PRDM16_ENST00000441472.2_Splice_Site_p.C396C|PRDM16_ENST00000442529.2_Splice_Site_p.C396C|PRDM16_ENST00000378398.3_Splice_Site_p.C397C|PRDM16_ENST00000512462.1_Splice_Site Q9HAZ2 PRD16_HUMAN PR/SET domain 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|kidney(180)|large_intestine(70)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1)|upper_aerodigestive_tract(28) 792 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTTTAGGTGAGGTCTGCC 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ T EVI1 "MDS, AML" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT PR domain containing 16 63976 1 1p36.23-p33 yes L Dom BC161614 HGNC:14000 Approved gene with protein product protein-coding gene "PR domain containing 16", "PR domain 16" MEL1, PFM13, KIAA1675, MGC166915, KMT8F "MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1" 1p36.32 2016-11-03 2016-07-18 AF294278 ENSG00000142611 11050005, 27151440 NM_022114 487|1197|28 Lysine methyltransferases|PR/SET domain family|Zinc fingers C2H2-type CCDS41236, CCDS44048 OTTHUMG00000000581 605557 NM_022114 Q9HAZ2 ENSG00000142611 uc001akf.4 A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63976 false 656PRDM16 63976 __UNKNOWN__ hg19 1 3331193 3331193 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3331193G>A ENST00000270722.5 + 10 2722 c.2673G>A c.(2671-2673)ccG>ccA p.P891P PRDM16_ENST00000378391.2_Silent_p.P891P|PRDM16_ENST00000511072.1_Silent_p.P892P|PRDM16_ENST00000514189.1_Silent_p.P891P|PRDM16_ENST00000441472.2_Silent_p.P890P|PRDM16_ENST00000442529.2_Silent_p.P890P|PRDM16_ENST00000378398.3_Silent_p.P891P|PRDM16_ENST00000512462.1_Intron Q9HAZ2 PRD16_HUMAN PR/SET domain 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|kidney(180)|large_intestine(70)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1)|upper_aerodigestive_tract(28) 792 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCGTCCCCGCTGCTCTTCC 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ T EVI1 "MDS, AML" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ PR domain containing 16 63976 1 1p36.23-p33 yes L Dom BC161614 HGNC:14000 Approved gene with protein product protein-coding gene "PR domain containing 16", "PR domain 16" MEL1, PFM13, KIAA1675, MGC166915, KMT8F "MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1" 1p36.32 2016-11-03 2016-07-18 AF294278 ENSG00000142611 11050005, 27151440 NM_022114 487|1197|28 Lysine methyltransferases|PR/SET domain family|Zinc fingers C2H2-type CCDS41236, CCDS44048 OTTHUMG00000000581 605557 NM_022114 Q9HAZ2 ENSG00000142611 uc001akf.4 A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63976 false 657PRDM16 63976 __UNKNOWN__ hg19 1 3342788 3342788 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3342788C>T ENST00000270722.5 + 14 3332 c.3283C>T c.(3283-3285)Cgg>Tgg p.R1095W PRDM16_ENST00000378391.2_Splice_Site_p.R1095W|PRDM16_ENST00000511072.1_Splice_Site_p.R1096W|PRDM16_ENST00000514189.1_Splice_Site_p.R1095W|PRDM16_ENST00000441472.2_Splice_Site_p.R1094W|PRDM16_ENST00000442529.2_Splice_Site_p.R1094W|PRDM16_ENST00000378398.3_Splice_Site_p.R1095W|PRDM16_ENST00000512462.1_Splice_Site Q9HAZ2 PRD16_HUMAN PR/SET domain 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|kidney(180)|large_intestine(70)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1)|upper_aerodigestive_tract(28) 792 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACAGAGAAACGGTAAGAAAA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ T EVI1 "MDS, AML" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE PR domain containing 16 63976 1 1p36.23-p33 yes L Dom BC161614 HGNC:14000 Approved gene with protein product protein-coding gene "PR domain containing 16", "PR domain 16" MEL1, PFM13, KIAA1675, MGC166915, KMT8F "MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1" 1p36.32 2016-11-03 2016-07-18 AF294278 ENSG00000142611 11050005, 27151440 NM_022114 487|1197|28 Lysine methyltransferases|PR/SET domain family|Zinc fingers C2H2-type CCDS41236, CCDS44048 OTTHUMG00000000581 605557 NM_022114 Q9HAZ2 ENSG00000142611 uc001akf.4 A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63976 false 658PRDM16 63976 __UNKNOWN__ hg19 1 3352227 3352227 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3352227T>C ENST00000270722.5 + 17 PRDM16_ENST00000441472.2_3'UTR|PRDM16_ENST00000442529.2_3'UTR|PRDM16_ENST00000378398.3_3'UTR Q9HAZ2 PRD16_HUMAN PR/SET domain 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872) nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|kidney(180)|large_intestine(70)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1)|upper_aerodigestive_tract(28) 792 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTGTCACGTGTGGACATCT 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ T EVI1 "MDS, AML" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ PR domain containing 16 63976 1 1p36.23-p33 yes L Dom BC161614 HGNC:14000 Approved gene with protein product protein-coding gene "PR domain containing 16", "PR domain 16" MEL1, PFM13, KIAA1675, MGC166915, KMT8F "MDS1/EVI1-like", "PR-domain zinc finger protein 16", "transcription factor MEL1" 1p36.32 2016-11-03 2016-07-18 AF294278 ENSG00000142611 11050005, 27151440 NM_022114 487|1197|28 Lysine methyltransferases|PR/SET domain family|Zinc fingers C2H2-type CCDS41236, CCDS44048 OTTHUMG00000000581 605557 NM_022114 Q9HAZ2 ENSG00000142611 uc001akf.4 A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63976 false 659ARHGEF16 27237 __UNKNOWN__ hg19 1 3395176 3395176 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3395176C>T ENST00000378378.4 + 12 2219 c.1814C>T c.(1813-1815)gCg>gTg p.A605V ARHGEF16_ENST00000378371.2_Splice_Site_p.A317V|ARHGEF16_ENST00000378373.1_Splice_Site_p.A317V|ARHGEF16_ENST00000413250.2_Splice_Site_p.A309V NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGACTCCGCGTAAGTGGGC 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE D89016 HGNC:15515 Approved gene with protein product protein-coding gene "Rho guanine nucleotide exchange factor (GEF) 16" NBR, GEF16 "putative neuroblastoma protein" 1p36.32 2016-10-05 2015-11-09 D89016 ENSG00000130762 NM_014448 722|682 Rho guanine nucleotide exchange factors|Pleckstrin homology domain containing CCDS46 OTTHUMG00000000625 NM_014448 Q5VV41 ENSG00000130762 uc001akg.5 Q86TF0|Q99434 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 27237 false 660ARHGEF16 27237 __UNKNOWN__ hg19 1 3396465 3396465 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3396465C>T ENST00000378378.4 + 14 2383 c.1978C>T c.(1978-1980)Cag>Tag p.Q660* ARHGEF16_ENST00000378371.2_Nonsense_Mutation_p.Q372*|ARHGEF16_ENST00000378373.1_Nonsense_Mutation_p.Q372*|ARHGEF16_ENST00000413250.2_Nonsense_Mutation_p.Q364* NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGGTTCTGCAGCAGGAGGA 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D89016 HGNC:15515 Approved gene with protein product protein-coding gene "Rho guanine nucleotide exchange factor (GEF) 16" NBR, GEF16 "putative neuroblastoma protein" 1p36.32 2016-10-05 2015-11-09 D89016 ENSG00000130762 NM_014448 722|682 Rho guanine nucleotide exchange factors|Pleckstrin homology domain containing CCDS46 OTTHUMG00000000625 NM_014448 Q5VV41 ENSG00000130762 uc001akg.5 Q86TF0|Q99434 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 27237 false 661MEGF6 1953 __UNKNOWN__ hg19 1 3410935 3410935 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3410935G>A ENST00000356575.4 - 32 4356 c.4129C>T c.(4129-4131)Ccc>Tcc p.P1377S MEGF6_ENST00000294599.4_Splice_Site_p.R1142W NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCAACTCACGGTGCTCGCAG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 662MEGF6 1953 __UNKNOWN__ hg19 1 3410942 3410942 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3410942G>A ENST00000356575.4 - 32 4349 c.4122C>T c.(4120-4122)tgC>tgT p.C1374C MEGF6_ENST00000294599.4_Silent_p.C1139C NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACGGTGCTCGCAGGCCTGGC 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 663MEGF6 1953 __UNKNOWN__ hg19 1 3413684 3413684 + Splice_Site SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3413684C>A ENST00000356575.4 - c.e28+1G>T c.e28-1 MEGF6_ENST00000294599.4_Intron NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGGCAGGCTGGGTGGAGA 0.7107231920199502 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 664MEGF6 1953 __UNKNOWN__ hg19 1 3415712 3415712 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3415712G>A ENST00000356575.4 - 24 3311 c.3084C>T c.(3082-3084)tcC>tcT p.S1028S MEGF6_ENST00000294599.4_Intron NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGCAGGCAGGAGGGCCCCA 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 665MEGF6 1953 __UNKNOWN__ hg19 1 3417742 3417742 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3417742G>A ENST00000356575.4 - 19 2672 c.2445C>T c.(2443-2445)gaC>gaT p.D815D MEGF6_ENST00000294599.4_Splice_Site_p.D710D NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCACTCACCGTCCTGGCAGC 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 666MEGF6 1953 __UNKNOWN__ hg19 1 3417742 3417742 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3417742G>A ENST00000356575.4 - 19 2672 c.2445C>T c.(2443-2445)gaC>gaT p.D815D MEGF6_ENST00000294599.4_Splice_Site_p.D710D NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCACTCACCGTCCTGGCAGC 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 667MEGF6 1953 __UNKNOWN__ hg19 1 3417747 3417747 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3417747G>A ENST00000356575.4 - 19 2667 c.2440C>T c.(2440-2442)Cag>Tag p.Q814* MEGF6_ENST00000294599.4_Nonsense_Mutation_p.Q709* NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACCGTCCTGGCAGCGGCTG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 668MEGF6 1953 __UNKNOWN__ hg19 1 3431235 3431235 + Splice_Site SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3431235A>C ENST00000356575.4 - 7 959 c.732T>G c.(730-732)cgT>cgG p.R244R MEGF6_ENST00000294599.4_Splice_Site_p.R139R NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGCTTCTACCTGCAGCCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 669MEGF6 1953 __UNKNOWN__ hg19 1 3431235 3431235 + Splice_Site SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3431235A>C ENST00000356575.4 - 7 959 c.732T>G c.(730-732)cgT>cgG p.R244R MEGF6_ENST00000294599.4_Splice_Site_p.R139R NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGGCTTCTACCTGCAGCCA 0.683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 670MEGF6 1953 __UNKNOWN__ hg19 1 3440796 3440796 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3440796G>A ENST00000356575.4 - 5 723 c.496C>T c.(496-498)Cga>Tga p.R166* MEGF6_ENST00000294599.4_Nonsense_Mutation_p.R61* NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF like domains 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(11) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTGGGTTCGGCATTCGTCC 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(73;978 3658) AL513320 HGNC:3232 Approved gene with protein product protein-coding gene EGFL3 "EGF-like-domain, multiple 3", "multiple EGF-like-domains 6" 1p36.32 2016-10-05 2006-03-31 2016-01-21 AB011539 ENSG00000162591 9693030 NM_001409 CCDS41237 OTTHUMG00000000611 604266 NM_001409 O75095 ENSG00000162591 uc001akl.4 Q4AC86|Q5VV39 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1953 false 671TPRG1L 127262 __UNKNOWN__ hg19 1 3540024 3540024 + 5'Flank SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3540024T>G ENST00000344579.5 + TPRG1L_ENST00000378344.2_5'Flank|RP11-46F15.2_ENST00000435049.1_RNA Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGTCTTGCTGGGCGTGCCA 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC019034 HGNC:27007 Approved gene with protein product protein-coding gene FAM79A "family with sequence similarity 79, member A" RP11-46F15.3, FLJ21811 1p36.32 2016-07-27 2008-01-16 2016-07-27 BC019034 ENSG00000158109 12477932 NM_182752 CCDS47 OTTHUMG00000000609 611460 NM_182752 Q5T0D9 ENSG00000158109 uc001akm.4 A8K1K4|Q8WV04 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127262 false 672TPRG1L 127262 __UNKNOWN__ hg19 1 3542386 3542386 + Frame_Shift_Del DEL A A - 749859577 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542386delA ENST00000378344.2 + 3 473 c.403delA c.(403-405)atafs p.I135fs TPRG1L_ENST00000344579.5_Intron|RP11-46F15.2_ENST00000435049.1_5'Flank NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGTGCGGATAGCGCTCAA 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC019034 HGNC:27007 Approved gene with protein product protein-coding gene FAM79A "family with sequence similarity 79, member A" RP11-46F15.3, FLJ21811 1p36.32 2016-07-27 2008-01-16 2016-07-27 BC019034 ENSG00000158109 12477932 NM_182752 CCDS47 OTTHUMG00000000609 611460 NM_182752 Q5T0D9 ENSG00000158109 uc001akm.4 A8K1K4|Q8WV04 true false false false false false false TPRG1L:127262 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 144 rs749859577 127262 3542386 false 673TPRG1L 127262 __UNKNOWN__ hg19 1 3542422 3542422 + Nonsense_Mutation SNP G G T 148462952 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3542422G>T ENST00000378344.2 + 3 510 c.439G>T c.(439-441)Gaa>Taa p.E147* TPRG1L_ENST00000344579.5_Intron|RP11-46F15.2_ENST00000435049.1_5'Flank NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTACGGAGAATTCCAGTT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC019034 HGNC:27007 Approved gene with protein product protein-coding gene FAM79A "family with sequence similarity 79, member A" RP11-46F15.3, FLJ21811 1p36.32 2016-07-27 2008-01-16 2016-07-27 BC019034 ENSG00000158109 12477932 NM_182752 CCDS47 OTTHUMG00000000609 611460 NM_182752 Q5T0D9 ENSG00000158109 uc001akm.4 A8K1K4|Q8WV04 true false false false false false false TPRG1L:127262 false false true false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000080605040002000100 1 false 134 rs148462952 127262 3542422 true 674TPRG1L 127262 __UNKNOWN__ hg19 1 3544065 3544065 + Splice_Site SNP C C T 370133742 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544065C>T ENST00000378344.2 + 4 543 c.472C>T c.(472-474)Cga>Tga p.R158* TPRG1L_ENST00000344579.5_Splice_Site_p.R99*|RP11-46F15.2_ENST00000435049.1_5'Flank NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCAGGCGAGAAGGTTT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NONSENSE BC019034 HGNC:27007 Approved gene with protein product protein-coding gene FAM79A "family with sequence similarity 79, member A" RP11-46F15.3, FLJ21811 1p36.32 2016-07-27 2008-01-16 2016-07-27 BC019034 ENSG00000158109 12477932 NM_182752 CCDS47 OTTHUMG00000000609 611460 NM_182752 Q5T0D9 ENSG00000158109 uc001akm.4 A8K1K4|Q8WV04 true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 138 rs370133742 127262 3544065 false 675TPRG1L 127262 __UNKNOWN__ hg19 1 3544065 3544065 + Splice_Site SNP C C T 370133742 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544065C>T ENST00000378344.2 + 4 543 c.472C>T c.(472-474)Cga>Tga p.R158* TPRG1L_ENST00000344579.5_Splice_Site_p.R99*|RP11-46F15.2_ENST00000435049.1_5'Flank NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCAGGCGAGAAGGTTT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NONSENSE BC019034 HGNC:27007 Approved gene with protein product protein-coding gene FAM79A "family with sequence similarity 79, member A" RP11-46F15.3, FLJ21811 1p36.32 2016-07-27 2008-01-16 2016-07-27 BC019034 ENSG00000158109 12477932 NM_182752 CCDS47 OTTHUMG00000000609 611460 NM_182752 Q5T0D9 ENSG00000158109 uc001akm.4 A8K1K4|Q8WV04 true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 138 rs370133742 127262 3544065 false 676TPRG1L 127262 __UNKNOWN__ hg19 1 3544995 3544995 + Nonsense_Mutation SNP T T G 750555620 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3544995T>G ENST00000378344.2 + 5 718 c.647T>G c.(646-648)tTa>tGa p.L216* TPRG1L_ENST00000344579.5_Nonsense_Mutation_p.L157*|RP11-46F15.2_ENST00000435049.1_5'Flank NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGCTCTGTTAATCCAAGCT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC019034 HGNC:27007 Approved gene with protein product protein-coding gene FAM79A "family with sequence similarity 79, member A" RP11-46F15.3, FLJ21811 1p36.32 2016-07-27 2008-01-16 2016-07-27 BC019034 ENSG00000158109 12477932 NM_182752 CCDS47 OTTHUMG00000000609 611460 NM_182752 Q5T0D9 ENSG00000158109 uc001akm.4 A8K1K4|Q8WV04 true false false false false false false TPRG1L:127262 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000605040402000100 1 false 144 rs750555620 127262 3544995 true 677TPRG1L 127262 __UNKNOWN__ hg19 1 3545612 3545612 + 3'UTR SNP A A G 1128474 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3545612A>G ENST00000378344.2 + 5 TPRG1L_ENST00000344579.5_3'UTR|RP11-46F15.2_ENST00000435049.1_5'Flank NM_182752.3 NP_877429.2 Q5T0D9 TPRGL_HUMAN tumor protein p63 regulated 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTGCAAGTATGTTTACACC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC019034 HGNC:27007 Approved gene with protein product protein-coding gene FAM79A "family with sequence similarity 79, member A" RP11-46F15.3, FLJ21811 1p36.32 2016-07-27 2008-01-16 2016-07-27 BC019034 ENSG00000158109 12477932 NM_182752 CCDS47 OTTHUMG00000000609 611460 NM_182752 Q5T0D9 ENSG00000158109 uc001akm.4 A8K1K4|Q8WV04 true false 0.7949,0.2051 false false 1 false true false TPRG1L:127262 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.832853,0.167147 false true false SNV 0x050100800005150537000100 1 false 86 rs1128474 127262 3545612 true 678TP73 7161 __UNKNOWN__ hg19 1 3648066 3648066 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3648066T>C ENST00000378295.4 + 13 1679 c.1524T>C c.(1522-1524)taT>taC p.Y508Y TP73_ENST00000378280.1_Missense_Mutation_p.F410L|TP73_ENST00000378288.4_Silent_p.Y459Y|TP73_ENST00000378290.4_Silent_p.Y437Y|TP73_ENST00000604479.1_Silent_p.Y412Y|TP73_ENST00000604074.1_Intron|TP73_ENST00000354437.4_Intron|TP73_ENST00000378285.1_Intron|TP73_ENST00000603362.1_Intron|TP73_ENST00000346387.4_Silent_p.Y412Y|TP73_ENST00000357733.3_Intron NM_005427.3 NP_005418.1 O15350 P73_HUMAN tumor protein p73 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) biliary_tract(2)|breast(47)|central_nervous_system(61)|haematopoietic_and_lymphoid_tissue(177)|kidney(112)|large_intestine(11)|lung(190)|pancreas(22)|skin(33)|soft_tissue(24)|upper_aerodigestive_tract(1) 680 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATCGAGTATTTCACCTCCC 0.5885286783042394 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y11416 HGNC:12003 Approved gene with protein product protein-coding gene P73 1p36.32 2017-07-07 AB055065 ENSG00000078900 9296498, 9288759 NM_005427 CCDS49, CCDS44049, CCDS44050, CCDS44051, CCDS55566, CCDS55567, CCDS55568, CCDS55569, CCDS59965 OTTHUMG00000000610 601990 NM_001126240 O15350 ENSG00000078900 uc001akp.4 B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7161 false 679TP73 7161 __UNKNOWN__ hg19 1 3649562 3649562 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3649562G>A ENST00000378295.4 + 14 1985 c.1830G>A c.(1828-1830)gcG>gcA p.A610A TP73_ENST00000378288.4_Silent_p.A561A|TP73_ENST00000378290.4_Silent_p.A539A|TP73_ENST00000603362.1_Silent_p.A529A|TP73_ENST00000604479.1_Silent_p.A514A|TP73_ENST00000604074.1_3'UTR|TP73_ENST00000354437.4_3'UTR|TP73_ENST00000378285.1_3'UTR|TP73_ENST00000378280.1_3'UTR|TP73_ENST00000357733.3_Silent_p.A529A|TP73_ENST00000346387.4_Silent_p.A514A NM_005427.3 NP_005418.1 O15350 P73_HUMAN tumor protein p73 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) biliary_tract(2)|breast(47)|central_nervous_system(61)|haematopoietic_and_lymphoid_tissue(177)|kidney(112)|large_intestine(11)|lung(190)|pancreas(22)|skin(33)|soft_tissue(24)|upper_aerodigestive_tract(1) 680 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGAGTGGGCGGACTTCGGCT 0.685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y11416 HGNC:12003 Approved gene with protein product protein-coding gene P73 1p36.32 2017-07-07 AB055065 ENSG00000078900 9296498, 9288759 NM_005427 CCDS49, CCDS44049, CCDS44050, CCDS44051, CCDS55566, CCDS55567, CCDS55568, CCDS55569, CCDS59965 OTTHUMG00000000610 601990 NM_001126240 O15350 ENSG00000078900 uc001akp.4 B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7161 false 680TP73 7161 __UNKNOWN__ hg19 1 3651031 3651031 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3651031C>T ENST00000378295.4 + 14 TP73_ENST00000378288.4_3'UTR|TP73_ENST00000604074.1_3'UTR NM_005427.3 NP_005418.1 O15350 P73_HUMAN tumor protein p73 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) biliary_tract(2)|breast(47)|central_nervous_system(61)|haematopoietic_and_lymphoid_tissue(177)|kidney(112)|large_intestine(11)|lung(190)|pancreas(22)|skin(33)|soft_tissue(24)|upper_aerodigestive_tract(1) 680 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTCACCCACGCAAGCCGAG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y11416 HGNC:12003 Approved gene with protein product protein-coding gene P73 1p36.32 2017-07-07 AB055065 ENSG00000078900 9296498, 9288759 NM_005427 CCDS49, CCDS44049, CCDS44050, CCDS44051, CCDS55566, CCDS55567, CCDS55568, CCDS55569, CCDS59965 OTTHUMG00000000610 601990 NM_001126240 O15350 ENSG00000078900 uc001akp.4 B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7161 false 681TP73 7161 __UNKNOWN__ hg19 1 3651409 3651409 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3651409G>A ENST00000378295.4 + 14 TP73_ENST00000378288.4_3'UTR|TP73_ENST00000604074.1_3'UTR NM_005427.3 NP_005418.1 O15350 P73_HUMAN tumor protein p73 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351) chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212) biliary_tract(2)|breast(47)|central_nervous_system(61)|haematopoietic_and_lymphoid_tissue(177)|kidney(112)|large_intestine(11)|lung(190)|pancreas(22)|skin(33)|soft_tissue(24)|upper_aerodigestive_tract(1) 680 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGCTGTCGGCTCTCAGGGG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y11416 HGNC:12003 Approved gene with protein product protein-coding gene P73 1p36.32 2017-07-07 AB055065 ENSG00000078900 9296498, 9288759 NM_005427 CCDS49, CCDS44049, CCDS44050, CCDS44051, CCDS55566, CCDS55567, CCDS55568, CCDS55569, CCDS59965 OTTHUMG00000000610 601990 NM_001126240 O15350 ENSG00000078900 uc001akp.4 B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7161 false 682TP73-AS1 57212 __UNKNOWN__ hg19 1 3657759 3657759 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3657759G>A ENST00000452079.1 - c.e4+808C>T TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000419973.1_5'Flank Q9UF72 T73AS_HUMAN TP73 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAAGGACCGGAGGCCTTTG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:29052 Approved RNA, long non-coding non-coding RNA KIAA0495 "KIAA0495" PDAM "p53-dependent apoptosis modulator" 1p36.32 2017-04-28 2014-01-20 2014-01-20 ENSG00000227372 20477830, 23726844, 28403886 NR_033708 788 Long non-coding RNAs (published) OTTHUMG00000003414 NR_033708 Q9UF72 ENSG00000227372 uc009vlm.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57212 false 683TP73-AS1 57212 __UNKNOWN__ hg19 1 3659657 3659657 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3659657G>A ENST00000452079.1 - c.e2+32C>T TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000587071.1_5'Flank Q9UF72 T73AS_HUMAN TP73 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGGCCGCCGGGAACAGGCA 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:29052 Approved RNA, long non-coding non-coding RNA KIAA0495 "KIAA0495" PDAM "p53-dependent apoptosis modulator" 1p36.32 2017-04-28 2014-01-20 2014-01-20 ENSG00000227372 20477830, 23726844, 28403886 NR_033708 788 Long non-coding RNAs (published) OTTHUMG00000003414 NR_033708 Q9UF72 ENSG00000227372 uc009vlm.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57212 false 684CCDC27 148870 __UNKNOWN__ hg19 1 3669362 3669362 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3669362C>T ENST00000294600.2 + 1 401 c.317C>T c.(316-318)aCg>aTg p.T106M NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAGGAAGACGGTATGGGGT 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC112112 HGNC:26546 Approved gene with protein product protein-coding gene FLJ32825 1p36.32 2014-11-19 ENSG00000162592 NM_152492 CCDS50 OTTHUMG00000003504 NM_152492 Q2M243 ENSG00000162592 uc001akv.3 Q5TBV3|Q96M50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148870 false 685CCDC27 148870 __UNKNOWN__ hg19 1 3672032 3672032 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3672032G>T ENST00000294600.2 + 3 538 c.454G>T c.(454-456)Gag>Tag p.E152* NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCACCCACTGAGGCCGATTT 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112112 HGNC:26546 Approved gene with protein product protein-coding gene FLJ32825 1p36.32 2014-11-19 ENSG00000162592 NM_152492 CCDS50 OTTHUMG00000003504 NM_152492 Q2M243 ENSG00000162592 uc001akv.3 Q5TBV3|Q96M50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148870 false 686CCDC27 148870 __UNKNOWN__ hg19 1 3673329 3673329 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3673329G>T ENST00000294600.2 + 4 670 c.586G>T c.(586-588)Gag>Tag p.E196* NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCATCTGCGAGTTCGATTA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112112 HGNC:26546 Approved gene with protein product protein-coding gene FLJ32825 1p36.32 2014-11-19 ENSG00000162592 NM_152492 CCDS50 OTTHUMG00000003504 NM_152492 Q2M243 ENSG00000162592 uc001akv.3 Q5TBV3|Q96M50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148870 false 687CCDC27 148870 __UNKNOWN__ hg19 1 3677854 3677854 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3677854C>T ENST00000294600.2 + 5 805 c.721C>T c.(721-723)Ctg>Ttg p.L241L NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATCACTGCCTGTCTGAGCT 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112112 HGNC:26546 Approved gene with protein product protein-coding gene FLJ32825 1p36.32 2014-11-19 ENSG00000162592 NM_152492 CCDS50 OTTHUMG00000003504 NM_152492 Q2M243 ENSG00000162592 uc001akv.3 Q5TBV3|Q96M50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148870 false 688CCDC27 148870 __UNKNOWN__ hg19 1 3679252 3679252 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3679252G>A ENST00000294600.2 + 6 1014 c.930G>A c.(928-930)gaG>gaA p.E310E NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGACATGAGGAGGAGCTGC 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112112 HGNC:26546 Approved gene with protein product protein-coding gene FLJ32825 1p36.32 2014-11-19 ENSG00000162592 NM_152492 CCDS50 OTTHUMG00000003504 NM_152492 Q2M243 ENSG00000162592 uc001akv.3 Q5TBV3|Q96M50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148870 false 689CCDC27 148870 __UNKNOWN__ hg19 1 3680362 3680362 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3680362C>T ENST00000294600.2 + 8 1498 c.1414C>T c.(1414-1416)Cga>Tga p.R472* NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGAGCTCCGAGAGCGGAG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112112 HGNC:26546 Approved gene with protein product protein-coding gene FLJ32825 1p36.32 2014-11-19 ENSG00000162592 NM_152492 CCDS50 OTTHUMG00000003504 NM_152492 Q2M243 ENSG00000162592 uc001akv.3 Q5TBV3|Q96M50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148870 false 690CCDC27 148870 __UNKNOWN__ hg19 1 3686357 3686357 + Nonsense_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3686357T>G ENST00000294600.2 + 11 1838 c.1754T>G c.(1753-1755)tTa>tGa p.L585* SMIM1_ENST00000444870.2_5'Flank|SMIM1_ENST00000561886.1_5'Flank NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCGAGAGGTTAAGGAATAAG 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112112 HGNC:26546 Approved gene with protein product protein-coding gene FLJ32825 1p36.32 2014-11-19 ENSG00000162592 NM_152492 CCDS50 OTTHUMG00000003504 NM_152492 Q2M243 ENSG00000162592 uc001akv.3 Q5TBV3|Q96M50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148870 false 691LRRC47 57470 __UNKNOWN__ hg19 1 3696925 3696925 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3696925C>T ENST00000378251.1 - 7 RN7SL574P_ENST00000581512.1_5'Flank|RP1-286D6.5_ENST00000607459.1_5'Flank NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACACTGCACGAGAATATTG 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC031301 HGNC:29207 Approved gene with protein product protein-coding gene KIAA1185, RP1-286D6.3 1p36.32 2014-11-19 AB033011 ENSG00000130764 10574461 NM_020710 CCDS51 OTTHUMG00000003506 NM_020710 Q8N1G4 ENSG00000130764 uc001akx.2 Q9ULN5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57470 false 692LRRC47 57470 __UNKNOWN__ hg19 1 3698166 3698166 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3698166C>T ENST00000378251.1 - c.e6+1G>A c.e6-1 RN7SL574P_ENST00000581512.1_5'Flank|RP1-286D6.5_ENST00000607459.1_5'Flank NM_020710.2 NP_065761.1 Q8N1G4 LRC47_HUMAN leucine rich repeat containing 47 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTCTTAACCTTAAAAGAAA 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON BC031301 HGNC:29207 Approved gene with protein product protein-coding gene KIAA1185, RP1-286D6.3 1p36.32 2014-11-19 AB033011 ENSG00000130764 10574461 NM_020710 CCDS51 OTTHUMG00000003506 NM_020710 Q8N1G4 ENSG00000130764 uc001akx.2 Q9ULN5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57470 false 693CEP104 9731 __UNKNOWN__ hg19 1 3739988 3739988 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3739988G>A ENST00000378230.3 - 19 2828 c.2503C>T c.(2503-2505)Cct>Tct p.P835S NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCACTCACGGTTGCAATCC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 694CEP104 9731 __UNKNOWN__ hg19 1 3743271 3743271 + Splice_Site SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3743271C>A ENST00000378230.3 - c.e16-1G>T c.e16+1 NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTTTACATACCCTGATTCTT 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 695CEP104 9731 __UNKNOWN__ hg19 1 3751489 3751489 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3751489G>A ENST00000378230.3 - 11 1810 c.1485C>T c.(1483-1485)tcC>tcT p.S495S CEP104_ENST00000460038.1_Splice_Site NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCACTCACGGAGGTCACAA 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 696CEP104 9731 __UNKNOWN__ hg19 1 3751489 3751489 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3751489G>A ENST00000378230.3 - 11 1810 c.1485C>T c.(1483-1485)tcC>tcT p.S495S CEP104_ENST00000460038.1_Splice_Site NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCACTCACGGAGGTCACAA 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 697CEP104 9731 __UNKNOWN__ hg19 1 3753856 3753856 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753856A>G ENST00000378230.3 - 9 1444 c.1119T>C c.(1117-1119)aaT>aaC p.N373N CEP104_ENST00000460038.1_5'Flank NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTACCTACATTGATCTTTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 698CEP104 9731 __UNKNOWN__ hg19 1 3753856 3753856 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753856A>G ENST00000378230.3 - 9 1444 c.1119T>C c.(1117-1119)aaT>aaC p.N373N CEP104_ENST00000460038.1_5'Flank NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTACCTACATTGATCTTTG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 699CEP104 9731 __UNKNOWN__ hg19 1 3753972 3753972 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3753972G>A ENST00000378230.3 - 9 1328 c.1003C>T c.(1003-1005)Cag>Tag p.Q335* CEP104_ENST00000460038.1_5'Flank NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGCAAACTGGTTTTCTGTT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 700CEP104 9731 __UNKNOWN__ hg19 1 3755660 3755660 + Nonsense_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3755660A>C ENST00000378230.3 - 8 1084 c.759T>G c.(757-759)taT>taG p.Y253* CEP104_ENST00000460038.1_5'Flank NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCTACCTCATACCTCCCAA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 701CEP104 9731 __UNKNOWN__ hg19 1 3756342 3756342 + Splice_Site SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3756342T>C ENST00000378230.3 - c.e7+2A>G c.e7-2 CEP104_ENST00000460038.1_5'Flank NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGATTTCCTAAAGGGAAGA 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 702CEP104 9731 __UNKNOWN__ hg19 1 3761541 3761541 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3761541G>A ENST00000378230.3 - 6 821 c.496C>T c.(496-498)Cga>Tga p.R166* CEP104_ENST00000378223.3_Nonsense_Mutation_p.R166* NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACTTCTCTCGAGAGGCCTTT 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 703CEP104 9731 __UNKNOWN__ hg19 1 3761547 3761547 + Splice_Site SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3761547C>A ENST00000378230.3 - 6 815 c.490G>T c.(490-492)Gcc>Tcc p.A164S CEP104_ENST00000378223.3_Splice_Site_p.A164S NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCGAGAGGCCTTTGGGGGC 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 704CEP104 9731 __UNKNOWN__ hg19 1 3765282 3765282 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3765282C>T ENST00000378230.3 - 3 502 c.177G>A c.(175-177)ctG>ctA p.L59L CEP104_ENST00000378223.3_Silent_p.L59L NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGTAACTGCAGTTTCCTTA 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 705CEP104 9731 __UNKNOWN__ hg19 1 3765302 3765302 + Nonsense_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3765302T>A ENST00000378230.3 - 3 482 c.157A>T c.(157-159)Aga>Tga p.R53* CEP104_ENST00000378223.3_Nonsense_Mutation_p.R53* NM_014704.3 NP_055519.1 O60308 CE104_HUMAN centrosomal protein 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centriole (GO:0005814) glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(3) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCGACATCTCTCCACCATT 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC050721 HGNC:24866 Approved gene with protein product protein-coding gene KIAA0562 "KIAA0562", "centrosomal protein 104kDa" GlyBP, RP1-286D6.4, CFAP256, ROC22, JBTS25 "glycine, glutamate, thienylcyclohexylpiperidine binding protein" 1p36.32 2016-03-30 2011-05-06 2016-03-30 AB011134 ENSG00000116198 7488117, 21399614, 23970417 NM_014704 1491 Cilia and flagella associated CCDS30571 OTTHUMG00000003507 616690 NM_014704 O60308 ENSG00000116198 uc001aky.3 Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9731 false 706DFFB 1677 __UNKNOWN__ hg19 1 3784549 3784549 + Nonsense_Mutation SNP C C T 371788433 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3784549C>T ENST00000378209.3 + 4 765 c.442C>T c.(442-444)Cga>Tga p.R148* DFFB_ENST00000338895.3_Nonsense_Mutation_p.R148* NM_004402.2 NP_004393.1 O76075 DFFB_HUMAN DNA fragmentation factor subunit beta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTGGAGTCCCGATTTCAGAG 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC048797 HGNC:2773 Approved gene with protein product protein-coding gene "DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)" CAD, CPAN, DFF-40, DFF40 "caspase-activated DNase" 1p36.32 2016-10-05 2016-02-03 ENSG00000169598 9108473, 9560346 NM_001282669 CCDS52, CCDS72693 OTTHUMG00000003525 601883 NM_001282669 O76075 ENSG00000169598 uc001alc.5 O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 true false 0.9996,0.0003994 false false 0 false false false DFFB:1677 false true false false true false false false false false false false true false false false false false false true false true 0 false 0 false false false false SNV 0x050200000605040426000100 1 false 138 rs371788433 1677 3784549 true 707DFFB 1677 __UNKNOWN__ hg19 1 3789042 3789042 + Frame_Shift_Del DEL T T - 755710345 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3789042delT ENST00000378209.3 + 6 1010 c.688delT c.(688-690)tttfs p.F230fs DFFB_ENST00000338895.3_Frame_Shift_Del_p.F230fs NM_004402.2 NP_004393.1 O76075 DFFB_HUMAN DNA fragmentation factor subunit beta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGGTCCCTTTGACATGGA 0.5885286783042394 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC048797 HGNC:2773 Approved gene with protein product protein-coding gene "DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)" CAD, CPAN, DFF-40, DFF40 "caspase-activated DNase" 1p36.32 2016-10-05 2016-02-03 ENSG00000169598 9108473, 9560346 NM_001282669 CCDS52, CCDS72693 OTTHUMG00000003525 601883 NM_001282669 O76075 ENSG00000169598 uc001alc.5 O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 true false false false false false false DFFB:1677 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs755710345 1677 3789042 true 708DFFB 1677 __UNKNOWN__ hg19 1 3800159 3800159 + Frame_Shift_Del DEL G G - 777060714 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3800159delG ENST00000378209.3 + 7 1193 c.871delG c.(871-873)ggcfs p.G291fs AL691523.1_ENST00000579705.1_5'Flank NM_004402.2 NP_004393.1 O76075 DFFB_HUMAN DNA fragmentation factor subunit beta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921) cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTATTTTTATGGCCTGCTTTT 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC048797 HGNC:2773 Approved gene with protein product protein-coding gene "DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)" CAD, CPAN, DFF-40, DFF40 "caspase-activated DNase" 1p36.32 2016-10-05 2016-02-03 ENSG00000169598 9108473, 9560346 NM_001282669 CCDS52, CCDS72693 OTTHUMG00000003525 601883 NM_001282669 O76075 ENSG00000169598 uc001alc.5 O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6 true false false false false false false DFFB:1677 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000002000200 1 false 144 rs777060714 1677 3800159 false 709C1orf174 339448 __UNKNOWN__ hg19 1 3806595 3806595 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3806595G>A ENST00000361605.3 - 4 760 c.661C>T c.(661-663)Cga>Tga p.R221* C1orf174_ENST00000486765.1_Intron NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAACTCTCGTCTGCTCATT 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:27915 Approved gene with protein product protein-coding gene RP13-531C17.2 1p36.32 2017-07-11 BC035643 ENSG00000198912 12477932 NM_207356 CCDS53 OTTHUMG00000003739 NM_207356 Q8IYL3 ENSG00000198912 uc001alf.4 A8K0C8|A8MUG9|Q5SR20|Q6NX36 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339448 false 710C1orf174 339448 __UNKNOWN__ hg19 1 3806595 3806595 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3806595G>A ENST00000361605.3 - 4 760 c.661C>T c.(661-663)Cga>Tga p.R221* C1orf174_ENST00000486765.1_Intron NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAACTCTCGTCTGCTCATT 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:27915 Approved gene with protein product protein-coding gene RP13-531C17.2 1p36.32 2017-07-11 BC035643 ENSG00000198912 12477932 NM_207356 CCDS53 OTTHUMG00000003739 NM_207356 Q8IYL3 ENSG00000198912 uc001alf.4 A8K0C8|A8MUG9|Q5SR20|Q6NX36 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339448 false 711C1orf174 339448 __UNKNOWN__ hg19 1 3807537 3807537 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3807537G>A ENST00000361605.3 - 3 313 c.214C>T c.(214-216)Cag>Tag p.Q72* C1orf174_ENST00000486765.1_Intron NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGCTTCTGTAATTCTGAC 0.47381546134663344 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:27915 Approved gene with protein product protein-coding gene RP13-531C17.2 1p36.32 2017-07-11 BC035643 ENSG00000198912 12477932 NM_207356 CCDS53 OTTHUMG00000003739 NM_207356 Q8IYL3 ENSG00000198912 uc001alf.4 A8K0C8|A8MUG9|Q5SR20|Q6NX36 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339448 false 712C1orf174 339448 __UNKNOWN__ hg19 1 3821782 3821782 + 5'Flank SNP G G A 11589102 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3821782G>A ENST00000361605.3 - RP13-15E13.1_ENST00000442673.1_RNA|C1orf174_ENST00000486765.1_5'Flank NM_207356.2 NP_997239.2 Q8IYL3 CA174_HUMAN chromosome 1 open reading frame 174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAACTAATGTTTTCTTAAT 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:27915 Approved gene with protein product protein-coding gene RP13-531C17.2 1p36.32 2017-07-11 BC035643 ENSG00000198912 12477932 NM_207356 CCDS53 OTTHUMG00000003739 NM_207356 Q8IYL3 ENSG00000198912 uc001alf.4 A8K0C8|A8MUG9|Q5SR20|Q6NX36 true false 0.8093,0.1907 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748643,0.251357 false false false SNV 0x05010008000517053f000101 1 false 120 rs11589102 339448 3821782 true 713RP13-15E13.1 __UNKNOWN__ hg19 1 3822703 3822703 + RNA SNP C C T 10909830 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3822703C>T ENST00000442673.1 + c.e1+5508C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTCACCGACGCAGGCCCGG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7055,0.2945 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.663061,0.336939 false false false SNV 0x05010008000517053f000100 1 false 120 rs10909830 3822703 true 714RP13-15E13.1 __UNKNOWN__ hg19 1 3823395 3823395 + RNA SNP C C T 28973022 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3823395C>T ENST00000442673.1 + c.e1+6200C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCAGATCCACGTCTGCCTCC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8087,0.1913 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.748918,0.251082 false false false SNV 0x05010008000517053f000100 1 false 125 rs28973022 3823395 true 715RP13-15E13.1 __UNKNOWN__ hg19 1 3825525 3825525 + RNA SNP C C T 35383955 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:3825525C>T ENST00000442673.1 + c.e2-5434C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCCCAAGCGGAGCTCTTG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.7456,0.2544 false false 1 false true true LINC01134:100133612 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false false false false SNV 0x05010008000517053e000100 1 false 126 rs35383955 3825525 true 716RP13-614K11.1 __UNKNOWN__ hg19 1 4002498 4002498 + RNA SNP T T C 7538691 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4002498T>C ENST00000412674.1 + c.e2+1295T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCCACATGCTGAAGTCCTTA 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.4375,0.5625 false false 1 false true true LINC01346:728716 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.405969,0.594031 false false false SNV 0x05010008000517053f000100 1 false 116 rs7538691 4002498 true 717RP13-614K11.1 __UNKNOWN__ hg19 1 4005693 4005693 + RNA SNP G G A 7524279 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4005693G>A ENST00000412674.1 + c.e2+4490G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACGGGAGGAGAAAATGCTTC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.6971,0.3029 false false 1 false true true LINC01346:728716 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.703791,0.296209 false false false SNV 0x05010008000517053f000100 1 false 116 rs7524279 4005693 true 718RP13-614K11.1 __UNKNOWN__ hg19 1 4006060 4006060 + RNA SNP T T C 7548668 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4006060T>C ENST00000412674.1 + c.e2+4857T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCGGCATCTGGTTGCCA 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.5789,0.4211 false false 1 false true true LINC01346:728716 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.550072,0.449928 false false false SNV 0x05010008000517053f000101 1 false 116 rs7548668 4006060 true 719RP13-614K11.1 __UNKNOWN__ hg19 1 4009071 4009071 + RNA SNP T T C 10799181 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4009071T>C ENST00000412674.1 + c.e3-3242T>C RP13-614K11.2_ENST00000425194.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGATTTCCTTTCATCCGTCC 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8125,0.1875 false false 1 false true true LINC01346:728716 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.796964,0.203036 false false false SNV 0x05010008000517053f000101 1 false 120 rs10799181 4009071 true 720RP13-614K11.1 __UNKNOWN__ hg19 1 4009694 4009694 + RNA SNP G G A 4654479 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4009694G>A ENST00000412674.1 + c.e3-2619G>A RP13-614K11.2_ENST00000425194.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATTATAGATGTGCTTTGATG 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8255,0.1745 false false 1 false true true LINC01346:728716 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.824713,0.175287 false false false SNV 0x05010008000517053f000101 1 false 111 rs4654479 4009694 true 721RP13-614K11.1 __UNKNOWN__ hg19 1 4009793 4009793 + RNA SNP C C T 4654480 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4009793C>T ENST00000412674.1 + c.e3-2520C>T RP13-614K11.2_ENST00000425194.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCACAGAGTCGCAGCTTGGT 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.8079,0.1921 false false 1 false true true LINC01346:728716 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.796552,0.203448 false false false SNV 0x050100080005170537000100 1 false 111 rs4654480 4009793 true 722RP5-1166F10.1 __UNKNOWN__ hg19 1 4481215 4481215 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4481215C>T ENST00000423197.1 + c.e4-1605C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGACCCTTTCGAGGCCAGAT 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 723RP1-37J18.2 __UNKNOWN__ hg19 1 4634978 4634978 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4634978A>G ENST00000420522.1 + c.e2+2326A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGATGTAAATATGGACTCATT 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 724RP1-37J18.2 __UNKNOWN__ hg19 1 4636767 4636767 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4636767T>C ENST00000420522.1 + c.e2+4115T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCATTTTAAGTTCTGTTCATC 0.3640897755610973 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 725RP1-37J18.2 __UNKNOWN__ hg19 1 4640902 4640902 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4640902T>C ENST00000420522.1 + c.e3-1435T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTTCCCAGTATCAGTTATC 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 726AJAP1 55966 __UNKNOWN__ hg19 1 4832482 4832482 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4832482C>T ENST00000378191.4 + 4 1441 c.1060C>T c.(1060-1062)Ctg>Ttg p.L354L AJAP1_ENST00000378190.3_Silent_p.L354L NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) biliary_tract(27)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACGAGACCCTGCAGTGTTC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98886 HGNC:30801 Approved gene with protein product protein-coding gene SHREW1, SHREW-1, MOT8 "transmembrane protein SHREW1" 1p36.32 2014-11-19 2008-01-08 AF175409 ENSG00000196581 14595118 NM_018836 CCDS54 OTTHUMG00000000645 610972 NM_001042478 Q9UKB5 ENSG00000196581 uc001alo.5 Q9Y229 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55966 false 727AJAP1 55966 __UNKNOWN__ hg19 1 4843233 4843233 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4843233G>A ENST00000378191.4 + 6 NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) biliary_tract(27)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAAACCAGTGTTTTCTACTT 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98886 HGNC:30801 Approved gene with protein product protein-coding gene SHREW1, SHREW-1, MOT8 "transmembrane protein SHREW1" 1p36.32 2014-11-19 2008-01-08 AF175409 ENSG00000196581 14595118 NM_018836 CCDS54 OTTHUMG00000000645 610972 NM_001042478 Q9UKB5 ENSG00000196581 uc001alo.5 Q9Y229 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55966 false 728AJAP1 55966 __UNKNOWN__ hg19 1 4844376 4844376 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4844376C>T ENST00000378191.4 + 6 NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) biliary_tract(27)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTCCTGTCCATGGGAGACG 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98886 HGNC:30801 Approved gene with protein product protein-coding gene SHREW1, SHREW-1, MOT8 "transmembrane protein SHREW1" 1p36.32 2014-11-19 2008-01-08 AF175409 ENSG00000196581 14595118 NM_018836 CCDS54 OTTHUMG00000000645 610972 NM_001042478 Q9UKB5 ENSG00000196581 uc001alo.5 Q9Y229 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55966 false 729AJAP1 55966 __UNKNOWN__ hg19 1 4847594 4847594 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:4847594C>T ENST00000378191.4 + 6 NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155) cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) biliary_tract(27)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATAAGACATCGCAGTTGTTA 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98886 HGNC:30801 Approved gene with protein product protein-coding gene SHREW1, SHREW-1, MOT8 "transmembrane protein SHREW1" 1p36.32 2014-11-19 2008-01-08 AF175409 ENSG00000196581 14595118 NM_018836 CCDS54 OTTHUMG00000000645 610972 NM_001042478 Q9UKB5 ENSG00000196581 uc001alo.5 Q9Y229 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55966 false 730RP11-154H17.1 __UNKNOWN__ hg19 1 5671786 5671786 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5671786A>G ENST00000413887.1 - c.e2+24151T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTCCAAGGACCAGAGCAGG 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 731RP11-154H17.1 __UNKNOWN__ hg19 1 5674434 5674434 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5674434T>C ENST00000413887.1 - c.e2+26799A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCAGGAATCTTTTTTGCCCA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 732RP11-154H17.1 __UNKNOWN__ hg19 1 5679441 5679441 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5679441A>G ENST00000413887.1 - c.e2+31806T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATCTCAATCATGAACTAATT 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 733RP11-154H17.1 __UNKNOWN__ hg19 1 5679808 5679808 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5679808G>A ENST00000413887.1 - c.e2+32173C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGATGGAGAGTGAGGAACTC 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 734RP11-154H17.1 __UNKNOWN__ hg19 1 5680572 5680572 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5680572A>G ENST00000413887.1 - c.e2+32937T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGACTCTTAAGACTAGATT 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 735RP11-154H17.1 __UNKNOWN__ hg19 1 5684301 5684301 + RNA SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5684301A>C ENST00000413887.1 - c.e2+36666T>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTGGTTCAAATTTTTTAAA 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 736RP11-154H17.1 __UNKNOWN__ hg19 1 5686915 5686915 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5686915A>G ENST00000413887.1 - c.e2+39280T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATATTGGTCACAAATTGGAA 0.36658354114713215 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 737RP11-154H17.1 __UNKNOWN__ hg19 1 5701323 5701323 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5701323T>C ENST00000413887.1 - c.e1-26878A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGCAGGTGTGCCTGTCTCT 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 738RP11-154H17.1 __UNKNOWN__ hg19 1 5703552 5703552 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5703552G>A ENST00000413887.1 - c.e1-24649C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTGGACAAGGTGTAAGGAA 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 739RP11-154H17.1 __UNKNOWN__ hg19 1 5705925 5705925 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5705925C>T ENST00000413887.1 - c.e1-22276G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCCACATGCCCCAAATTCT 0.5062344139650873 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 740RP11-154H17.1 __UNKNOWN__ hg19 1 5707091 5707091 + RNA SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5707091A>C ENST00000413887.1 - c.e1-21110T>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTTATAAGATGGACGTGGG 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 741RP11-154H17.1 __UNKNOWN__ hg19 1 5711647 5711647 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5711647T>C ENST00000413887.1 - c.e1-16554A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTCCCCAATGGTCTCCAGA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 742RP11-154H17.1 __UNKNOWN__ hg19 1 5712831 5712831 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5712831A>G ENST00000413887.1 - c.e1-15370T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAAGGGGCCAGAGGATAAAG 0.5561097256857855 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 743RP11-154H17.1 __UNKNOWN__ hg19 1 5717388 5717388 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5717388T>C ENST00000413887.1 - c.e1-10813A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGGCACCTTTGGTCTTCAA 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 744RP11-154H17.1 __UNKNOWN__ hg19 1 5721189 5721189 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5721189A>G ENST00000413887.1 - c.e1-7012T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATACAGTGACACAACCTAGCC 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 745RP11-154H17.1 __UNKNOWN__ hg19 1 5722405 5722405 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5722405G>A ENST00000413887.1 - c.e1-5796C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGCAGTGTCGAAGGAATGTA 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 746RP11-154H17.1 __UNKNOWN__ hg19 1 5724940 5724940 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5724940T>C ENST00000413887.1 - c.e1-3261A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAAGGAATATCTGCCTGTAA 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 747NPHP4 261734 __UNKNOWN__ hg19 1 5933360 5933360 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5933360G>A ENST00000378156.4 - 23 3533 c.3267C>T c.(3265-3267)gaC>gaT p.D1089D NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGACACGGCGTCCATGCCCT 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 748NPHP4 261734 __UNKNOWN__ hg19 1 5933384 5933384 + Silent SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5933384C>G ENST00000378156.4 - 23 3509 c.3243G>C c.(3241-3243)ggG>ggC p.G1081G NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTTGCTCAACCCAGGAGAGG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 749NPHP4 261734 __UNKNOWN__ hg19 1 5933384 5933384 + Silent SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5933384C>G ENST00000378156.4 - 23 3509 c.3243G>C c.(3241-3243)ggG>ggC p.G1081G NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTTGCTCAACCCAGGAGAGG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 750NPHP4 261734 __UNKNOWN__ hg19 1 5934716 5934716 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5934716C>T ENST00000378156.4 - 22 3312 c.3046G>A c.(3046-3048)Gtc>Atc p.V1016I NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCACGATGACGCTGGGGGAG 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 751NPHP4 261734 __UNKNOWN__ hg19 1 5935159 5935159 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5935159G>A ENST00000378156.4 - 21 3085 c.2819C>T c.(2818-2820)gCg>gTg p.A940V NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCTGCTGCGCCAGCAGACA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 752NPHP4 261734 __UNKNOWN__ hg19 1 5935162 5935162 + Splice_Site SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5935162A>T ENST00000378156.4 - c.e21+2T>A c.e21-2 NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTGCGCCAGCAGACAAGA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 753NPHP4 261734 __UNKNOWN__ hg19 1 5947525 5947525 + Splice_Site SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5947525T>A ENST00000378156.4 - 18 2572 c.2306A>T c.(2305-2307)cAt>cTt p.H769L NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGAGGAGATGCTGCAGAAG 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 754NPHP4 261734 __UNKNOWN__ hg19 1 5950982 5950982 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5950982G>A ENST00000378156.4 - 17 2516 c.2250C>T c.(2248-2250)gaC>gaT p.D750D NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTCCCAGACGTCAATCTGCA 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 755NPHP4 261734 __UNKNOWN__ hg19 1 5964678 5964678 + Splice_Site SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5964678A>T ENST00000378156.4 - 16 2408 c.2142T>A c.(2140-2142)gcT>gcA p.A714A NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTACTCACCAGCATCAAAGG 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 756NPHP4 261734 __UNKNOWN__ hg19 1 5964678 5964678 + Splice_Site SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5964678A>T ENST00000378156.4 - 16 2408 c.2142T>A c.(2140-2142)gcT>gcA p.A714A NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTACTCACCAGCATCAAAGG 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 757NPHP4 261734 __UNKNOWN__ hg19 1 5965372 5965372 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:5965372T>C ENST00000378156.4 - 15 2201 c.1935A>G c.(1933-1935)ctA>ctG p.L645L NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGAAACTGTAGCACCATCT 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 758NPHP4 261734 __UNKNOWN__ hg19 1 6007194 6007194 + Silent SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6007194C>A ENST00000378156.4 - 9 1355 c.1089G>T c.(1087-1089)gtG>gtT p.V363V NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGCTGAACACGTACTCCA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 759NPHP4 261734 __UNKNOWN__ hg19 1 6012895 6012895 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6012895G>A ENST00000378156.4 - 7 941 c.675C>T c.(673-675)ggC>ggT p.G225G NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGAGCGTCGCCTGAAACAG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 760NPHP4 261734 __UNKNOWN__ hg19 1 6012895 6012895 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6012895G>A ENST00000378156.4 - 7 941 c.675C>T c.(673-675)ggC>ggT p.G225G NPHP4_ENST00000478423.2_Splice_Site NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGAGCGTCGCCTGAAACAG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 761NPHP4 261734 __UNKNOWN__ hg19 1 6029157 6029157 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6029157G>A ENST00000378156.4 - 4 708 c.442C>T c.(442-444)Cag>Tag p.Q148* NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTTGTCCTGGGAAGCAGAG 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 762NPHP4 261734 __UNKNOWN__ hg19 1 6046217 6046217 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6046217G>A ENST00000378156.4 - 2 399 c.133C>T c.(133-135)Cag>Tag p.Q45* NPHP4_ENST00000478423.2_Intron NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephrocystin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632) cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923) structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTGTTACCTGCCTAATTACC 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY118228 HGNC:19104 Approved gene with protein product protein-coding gene "nephronophthisis 4" SLSN4, KIAA0673, POC10 "nephroretinin", "POC10 centriolar protein homolog (Chlamydomonas)" 1p36.31 2016-10-05 2016-05-16 AB014573 ENSG00000131697 11920287, 12205563 1546 NPHP complex CCDS44052 OTTHUMG00000000701 607215 NM_001291593 O75161 ENSG00000131697 uc001alq.3 Q8IWC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 261734 false 763KCNAB2 8514 __UNKNOWN__ hg19 1 6158562 6158562 + Silent SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6158562A>G ENST00000164247.1 + 16 1596 c.1032A>G c.(1030-1032)tcA>tcG p.S344S KCNAB2_ENST00000378097.1_Silent_p.S344S|KCNAB2_ENST00000341524.1_Silent_p.S344S|KCNAB2_ENST00000352527.1_Silent_p.S330S|KCNAB2_ENST00000378092.1_Silent_p.S330S|KCNAB2_ENST00000378083.3_Silent_p.S392S|KCNAB2_ENST00000602612.1_3'UTR|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000458166.2_Silent_p.S277S|KCNAB2_ENST00000378087.3_Intron NM_001199860.1 NP_001186789.1 Q13303 KCAB2_HUMAN potassium voltage-gated channel subfamily A regulatory beta subunit 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886) potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAAACTGTCATCTTCCATTA 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U33429 HGNC:6229 Approved gene with protein product protein-coding gene "potassium voltage-gated channel, shaker-related subfamily, beta member 2", "potassium channel, voltage gated subfamily A regulatory beta subunit 2" AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2 1p36.31 2016-10-05 2016-02-04 U33429 ENSG00000069424 8838324 NM_172130 399|858 Aldo-keto reductases|Potassium voltage-gated channel regulatory subunits CCDS55, CCDS56, CCDS55570, CCDS55571 OTTHUMG00000000795 601142 NM_001199860 Q13303 ENSG00000069424 uc009vlv.3 A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8514 false 764CHD5 26038 __UNKNOWN__ hg19 1 6162583 6162583 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6162583G>A ENST00000262450.3 - 42 CHD5_ENST00000378021.1_3'UTR NM_015557.2 NP_056372.1 O00258 WRB_HUMAN chromodomain helicase DNA binding protein 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ tail-anchored membrane protein insertion into ER membrane (GO:0071816) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 366 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAAGTGACCGACACTTGACC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL117491 HGNC:16816 Approved gene with protein product protein-coding gene 1p36.31 2016-10-05 AF425231 ENSG00000116254 11889561, 12592387 NM_015557 1305|88 NuRD complex|PHD finger proteins CCDS57 OTTHUMG00000000952 610771 NM_015557 Q8TDI0 ENSG00000116254 uc001amb.3 A8KAP8|A8MQ44|D3DSH9|O60740 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26038 false 765CHD5 26038 __UNKNOWN__ hg19 1 6171835 6171835 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6171835G>A ENST00000262450.3 - 36 5349 c.5249C>T c.(5248-5250)aCg>aTg p.T1750M CHD5_ENST00000378021.1_Splice_Site_p.T607M NM_015557.2 NP_056372.1 O00258 WRB_HUMAN chromodomain helicase DNA binding protein 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ tail-anchored membrane protein insertion into ER membrane (GO:0071816) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 366 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAAGGATACGTCACGATGCC 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AL117491 HGNC:16816 Approved gene with protein product protein-coding gene 1p36.31 2016-10-05 AF425231 ENSG00000116254 11889561, 12592387 NM_015557 1305|88 NuRD complex|PHD finger proteins CCDS57 OTTHUMG00000000952 610771 NM_015557 Q8TDI0 ENSG00000116254 uc001amb.3 A8KAP8|A8MQ44|D3DSH9|O60740 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26038 false 766CHD5 26038 __UNKNOWN__ hg19 1 6196869 6196869 + Silent SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6196869A>G ENST00000262450.3 - 16 2593 c.2493T>C c.(2491-2493)atT>atC p.I831I CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 O00258 WRB_HUMAN chromodomain helicase DNA binding protein 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ tail-anchored membrane protein insertion into ER membrane (GO:0071816) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 366 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCCTGGTCAATGGTGATGA 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL117491 HGNC:16816 Approved gene with protein product protein-coding gene 1p36.31 2016-10-05 AF425231 ENSG00000116254 11889561, 12592387 NM_015557 1305|88 NuRD complex|PHD finger proteins CCDS57 OTTHUMG00000000952 610771 NM_015557 Q8TDI0 ENSG00000116254 uc001amb.3 A8KAP8|A8MQ44|D3DSH9|O60740 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26038 false 767CHD5 26038 __UNKNOWN__ hg19 1 6203883 6203883 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6203883G>A ENST00000262450.3 - 13 2143 c.2043C>T c.(2041-2043)gaC>gaT p.D681D CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME NM_015557.2 NP_056372.1 O00258 WRB_HUMAN chromodomain helicase DNA binding protein 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ tail-anchored membrane protein insertion into ER membrane (GO:0071816) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 366 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCACTCACGTCCACAATGG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL117491 HGNC:16816 Approved gene with protein product protein-coding gene 1p36.31 2016-10-05 AF425231 ENSG00000116254 11889561, 12592387 NM_015557 1305|88 NuRD complex|PHD finger proteins CCDS57 OTTHUMG00000000952 610771 NM_015557 Q8TDI0 ENSG00000116254 uc001amb.3 A8KAP8|A8MQ44|D3DSH9|O60740 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26038 false 768CHD5 26038 __UNKNOWN__ hg19 1 6203883 6203883 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6203883G>A ENST00000262450.3 - 13 2143 c.2043C>T c.(2041-2043)gaC>gaT p.D681D CHD5_ENST00000378021.1_DE_NOVO_START_OUT_FRAME NM_015557.2 NP_056372.1 O00258 WRB_HUMAN chromodomain helicase DNA binding protein 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ tail-anchored membrane protein insertion into ER membrane (GO:0071816) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 366 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCACTCACGTCCACAATGG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL117491 HGNC:16816 Approved gene with protein product protein-coding gene 1p36.31 2016-10-05 AF425231 ENSG00000116254 11889561, 12592387 NM_015557 1305|88 NuRD complex|PHD finger proteins CCDS57 OTTHUMG00000000952 610771 NM_015557 Q8TDI0 ENSG00000116254 uc001amb.3 A8KAP8|A8MQ44|D3DSH9|O60740 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26038 false 769RNF207 388591 __UNKNOWN__ hg19 1 6271096 6271096 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6271096C>T ENST00000377939.4 + 12 1154 c.1027C>T c.(1027-1029)Cga>Tga p.R343* RNF207_ENST00000377948.2_Intron|RNF207_ENST00000483336.1_5'Flank NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular (GO:0005622) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTGACCACCGAGCTGAATT 0.6683291770573566 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC128237 HGNC:32947 Approved gene with protein product protein-coding gene C1orf188 "chromosome 1 open reading frame 188" FLJ46380, FLJ32096 "OTTHUMG00000001089" 1p36.31 2015-08-25 AK128246 ENSG00000158286 NM_207396 58 Ring finger proteins CCDS59 OTTHUMG00000001089 616923 NM_207396 Q6ZRF8 ENSG00000158286 uc001amg.4 A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388591 false 770RNF207 388591 __UNKNOWN__ hg19 1 6271178 6271178 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6271178C>T ENST00000377939.4 + 12 1236 c.1109C>T c.(1108-1110)aCg>aTg p.T370M RNF207_ENST00000377948.2_Intron|RNF207_ENST00000483336.1_5'Flank NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular (GO:0005622) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGCTAACACGTGAGCAGCA 0.6608478802992519 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC128237 HGNC:32947 Approved gene with protein product protein-coding gene C1orf188 "chromosome 1 open reading frame 188" FLJ46380, FLJ32096 "OTTHUMG00000001089" 1p36.31 2015-08-25 AK128246 ENSG00000158286 NM_207396 58 Ring finger proteins CCDS59 OTTHUMG00000001089 616923 NM_207396 Q6ZRF8 ENSG00000158286 uc001amg.4 A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388591 false 771RNF207 388591 __UNKNOWN__ hg19 1 6272342 6272342 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6272342C>T ENST00000377939.4 + 14 1475 c.1348C>T c.(1348-1350)Cga>Tga p.R450* RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_5'Flank NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular (GO:0005622) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGCTGCACCGAGACCTCAC 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC128237 HGNC:32947 Approved gene with protein product protein-coding gene C1orf188 "chromosome 1 open reading frame 188" FLJ46380, FLJ32096 "OTTHUMG00000001089" 1p36.31 2015-08-25 AK128246 ENSG00000158286 NM_207396 58 Ring finger proteins CCDS59 OTTHUMG00000001089 616923 NM_207396 Q6ZRF8 ENSG00000158286 uc001amg.4 A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388591 false 772RNF207 388591 __UNKNOWN__ hg19 1 6272793 6272793 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6272793G>A ENST00000377939.4 + 15 1661 c.1534G>A c.(1534-1536)Gcc>Acc p.A512T RNF207_ENST00000377948.2_3'UTR|RNF207_ENST00000483336.1_5'Flank NM_207396.2 NP_997279.2 Q6ZRF8 RN207_HUMAN ring finger protein 207 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular (GO:0005622) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTTATGAAGGTTCCAGACA 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE BC128237 HGNC:32947 Approved gene with protein product protein-coding gene C1orf188 "chromosome 1 open reading frame 188" FLJ46380, FLJ32096 "OTTHUMG00000001089" 1p36.31 2015-08-25 AK128246 ENSG00000158286 NM_207396 58 Ring finger proteins CCDS59 OTTHUMG00000001089 616923 NM_207396 Q6ZRF8 ENSG00000158286 uc001amg.4 A2VCM8|B4DFR6|Q5TGS6|Q6ZS63|Q96MP2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388591 false 773ICMT 23463 __UNKNOWN__ hg19 1 6296998 6296998 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6296998C>T ENST00000343813.5 - ICMT_ENST00000362035.3_5'Flank|LINC00337_ENST00000441724.1_RNA|LINC00337_ENST00000429480.2_5'Flank NM_012405.3 NP_036537.1 O60725 ICMT_HUMAN isoprenylcysteine carboxyl methyltransferase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ C-terminal protein methylation (GO:0006481)|cellular protein modification process (GO:0006464)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|multicellular organism growth (GO:0035264)|positive regulation of cell proliferation (GO:0008284)|protein targeting to membrane (GO:0006612)|regulation of Ras protein signal transduction (GO:0046578) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020) cAMP response element binding protein binding (GO:0008140)|protein C-terminal carboxyl O-methyltransferase activity (GO:0003880)|protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity (GO:0004671) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGCCACTGCGCCCGTCTTA 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR541711 HGNC:5350 Approved gene with protein product protein-coding gene PCCMT, HSTE14, PPMT "protein-S-isoprenylcysteine O-methyltransferase" 1p36.31 2016-10-05 AF064084 2.1.1.100 ENSG00000116237 9614111, 10441503 NM_012405 CCDS61 OTTHUMG00000001254 605851 NM_012405 O60725 ENSG00000116237 uc001amk.4 Q6FHT0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23463 false 774GPR153 387509 __UNKNOWN__ hg19 1 6308929 6308929 + 3'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6308929C>A ENST00000377893.2 - 6 NM_207370.2 NP_997253.2 Q6NV75 GP153_HUMAN G protein-coupled receptor 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCTCCCCCCCCCCGAAGGG 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR627473 HGNC:23618 Approved gene with protein product protein-coding gene PGR1 1p36.31 2015-08-25 AY255529 ENSG00000158292 12679517 262 G protein-coupled receptors, Class A orphans CCDS64 OTTHUMG00000001272 614269 NM_207370 Q6NV75 ENSG00000158292 uc001amp.2 Q5TGR5|Q6AHW8|Q86SP8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 387509 false 775ACOT7 11332 __UNKNOWN__ hg19 1 6378607 6378607 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6378607G>A ENST00000377855.2 - 6 834 c.687C>T c.(685-687)agC>agT p.S229S ACOT7_ENST00000377845.3_Silent_p.S199S|ACOT7_ENST00000608083.1_Silent_p.S187S|ACOT7_ENST00000361521.4_Silent_p.S219S|ACOT7_ENST00000377842.3_Silent_p.S178S|ACOT7_ENST00000541130.1_Silent_p.S199S|ACOT7_ENST00000545482.1_Silent_p.S114S NM_181864.2 NP_863654.1 O00154 BACH_HUMAN acyl-CoA thioesterase 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634) carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGATCAAGCTGGACTGGC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(74;673 1226 4974 11850 13190) U91316 HGNC:24157 Approved gene with protein product protein-coding gene BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH "brain acyl CoA hydrolase" 1p36.31 2016-10-05 AB074417 ENSG00000097021 10578051, 16103133, 16940157 NM_007274 41 Acyl-CoA thioesterases CCDS65, CCDS66, CCDS67, CCDS30573 OTTHUMG00000001295 602587 NM_007274 O00154 ENSG00000097021 uc001ams.4 A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11332 false 776ACOT7 11332 __UNKNOWN__ hg19 1 6378607 6378607 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6378607G>A ENST00000377855.2 - 6 834 c.687C>T c.(685-687)agC>agT p.S229S ACOT7_ENST00000377845.3_Silent_p.S199S|ACOT7_ENST00000608083.1_Silent_p.S187S|ACOT7_ENST00000361521.4_Silent_p.S219S|ACOT7_ENST00000377842.3_Silent_p.S178S|ACOT7_ENST00000541130.1_Silent_p.S199S|ACOT7_ENST00000545482.1_Silent_p.S114S NM_181864.2 NP_863654.1 O00154 BACH_HUMAN acyl-CoA thioesterase 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634) carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGATCAAGCTGGACTGGC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(74;673 1226 4974 11850 13190) U91316 HGNC:24157 Approved gene with protein product protein-coding gene BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH "brain acyl CoA hydrolase" 1p36.31 2016-10-05 AB074417 ENSG00000097021 10578051, 16103133, 16940157 NM_007274 41 Acyl-CoA thioesterases CCDS65, CCDS66, CCDS67, CCDS30573 OTTHUMG00000001295 602587 NM_007274 O00154 ENSG00000097021 uc001ams.4 A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11332 false 777ACOT7 11332 __UNKNOWN__ hg19 1 6409810 6409810 + Splice_Site SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6409810C>A ENST00000377855.2 - 2 437 c.290G>T c.(289-291)gGg>gTg p.G97V ACOT7_ENST00000377845.3_Splice_Site_p.G67V|ACOT7_ENST00000608083.1_Splice_Site_p.G55V|ACOT7_ENST00000361521.4_Splice_Site_p.G87V|ACOT7_ENST00000377842.3_Splice_Site_p.G46V|ACOT7_ENST00000541130.1_Splice_Site_p.G67V|ACOT7_ENST00000545482.1_Intron NM_181864.2 NP_863654.1 O00154 BACH_HUMAN acyl-CoA thioesterase 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ coenzyme A biosynthetic process (GO:0015937)|fatty acid catabolic process (GO:0009062)|long-chain fatty-acyl-CoA catabolic process (GO:0036116)|medium-chain fatty acid biosynthetic process (GO:0051792)|medium-chain fatty-acyl-CoA catabolic process (GO:0036114)|palmitic acid biosynthetic process (GO:1900535) cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634) carboxylic ester hydrolase activity (GO:0052689)|fatty-acyl-CoA binding (GO:0000062)|long-chain fatty acyl-CoA binding (GO:0036042)|palmitoyl-CoA hydrolase activity (GO:0016290)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCTTACCCCGTTCTGGCT 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE GBM(74;673 1226 4974 11850 13190) U91316 HGNC:24157 Approved gene with protein product protein-coding gene BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH "brain acyl CoA hydrolase" 1p36.31 2016-10-05 AB074417 ENSG00000097021 10578051, 16103133, 16940157 NM_007274 41 Acyl-CoA thioesterases CCDS65, CCDS66, CCDS67, CCDS30573 OTTHUMG00000001295 602587 NM_007274 O00154 ENSG00000097021 uc001ams.4 A8K0K7|A8K232|A8K6B8|A8K837|B3KQ12|O43703|Q53Y78|Q5JYL2|Q5JYL3|Q5JYL4|Q5JYL5|Q5JYL6|Q5TGR4|Q9UJM9|Q9Y539|Q9Y540 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11332 false 778PLEKHG5 57449 __UNKNOWN__ hg19 1 6529605 6529605 + Splice_Site SNP A A G 150807400 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6529605A>G ENST00000377748.1 - 18 2661 c.2163T>C c.(2161-2163)ccT>ccC p.P721P PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P|TNFRSF25_ENST00000348333.3_5'Flank|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000461703.2_5'Flank NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology and RhoGEF domain containing G5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|stomach(121) 304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCCTTACCAGGGTCCCGTA 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471130 HGNC:29105 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family G (with RhoGef domain) member 5" KIAA0720, Syx, GEF720, Tech "synectin-binding guanine exchange factor" 1p36.31 2017-03-24 2005-08-09 2015-11-18 AK024676 ENSG00000171680 17564964 NM_020631 682 Pleckstrin homology domain containing CCDS79, CCDS41240, CCDS41241, CCDS57967, CCDS57968, CCDS57969 OTTHUMG00000000905 611101 NM_001042663 O94827 ENSG00000171680 uc001anm.3 B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1 true false 0.9996,0.0003994 false false 0 false false false PLEKHG5:57449 false true false false true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997871,0.00212927 false false false SNV 0x050200000305040426000100 1 false 134 rs150807400 57449 6529605 true 779PLEKHG5 57449 __UNKNOWN__ hg19 1 6529605 6529605 + Splice_Site SNP A A G 150807400 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6529605A>G ENST00000377748.1 - 18 2661 c.2163T>C c.(2161-2163)ccT>ccC p.P721P PLEKHG5_ENST00000340850.5_Splice_Site_p.P644P|PLEKHG5_ENST00000400913.1_Splice_Site_p.P644P|PLEKHG5_ENST00000377732.1_Splice_Site_p.P681P|PLEKHG5_ENST00000400915.3_Splice_Site_p.P700P|PLEKHG5_ENST00000377728.3_Splice_Site_p.P644P|PLEKHG5_ENST00000377740.3_Splice_Site_p.P721P|PLEKHG5_ENST00000377725.1_Splice_Site_p.P644P|PLEKHG5_ENST00000544978.1_Splice_Site_p.P644P|PLEKHG5_ENST00000537245.1_Splice_Site_p.P723P|PLEKHG5_ENST00000377737.2_Splice_Site_p.P644P|PLEKHG5_ENST00000535355.1_Splice_Site_p.P713P|TNFRSF25_ENST00000348333.3_5'Flank|TNFRSF25_ENST00000351748.3_5'Flank|TNFRSF25_ENST00000351959.5_5'Flank|TNFRSF25_ENST00000356876.3_5'Flank|TNFRSF25_ENST00000377782.3_5'Flank|TNFRSF25_ENST00000461703.2_5'Flank NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology and RhoGEF domain containing G5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|stomach(121) 304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTCCTTACCAGGGTCCCGTA 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471130 HGNC:29105 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family G (with RhoGef domain) member 5" KIAA0720, Syx, GEF720, Tech "synectin-binding guanine exchange factor" 1p36.31 2017-03-24 2005-08-09 2015-11-18 AK024676 ENSG00000171680 17564964 NM_020631 682 Pleckstrin homology domain containing CCDS79, CCDS41240, CCDS41241, CCDS57967, CCDS57968, CCDS57969 OTTHUMG00000000905 611101 NM_001042663 O94827 ENSG00000171680 uc001anm.3 B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1 true false 0.9996,0.0003994 false false 0 false false false PLEKHG5:57449 false true false false true false false false false false false false false false false false false false false true false true 0 false 0 true 0.997871,0.00212927 false false false SNV 0x050200000305040426000100 1 false 134 rs150807400 57449 6529605 true 780PLEKHG5 57449 __UNKNOWN__ hg19 1 6534226 6534226 + Splice_Site SNP T T C 144750655 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6534226T>C ENST00000377748.1 - c.e8+2A>G c.e8-2 PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology and RhoGEF domain containing G5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|stomach(121) 304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGGGGCTGCATGTGGGG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471130 HGNC:29105 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family G (with RhoGef domain) member 5" KIAA0720, Syx, GEF720, Tech "synectin-binding guanine exchange factor" 1p36.31 2017-03-24 2005-08-09 2015-11-18 AK024676 ENSG00000171680 17564964 NM_020631 682 Pleckstrin homology domain containing CCDS79, CCDS41240, CCDS41241, CCDS57967, CCDS57968, CCDS57969 OTTHUMG00000000905 611101 NM_001042663 O94827 ENSG00000171680 uc001anm.3 B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1 true true 0.9998,0.0001997 false false 0 false false false PLEKHG5:57449 false true false true true false false false false false false false false false false false false false false false false false 0 false 0 false 0.999828,0.000171715 false false false SNV 0x050000200005040436000100 1 false 134 rs144750655 57449 6534226 true 781PLEKHG5 57449 __UNKNOWN__ hg19 1 6550505 6550505 + 5'UTR SNP C C T 11806429 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6550505C>T ENST00000340850.5 - 1 PLEKHG5_ENST00000377725.1_5'UTR|PLEKHG5_ENST00000377748.1_Intron|PLEKHG5_ENST00000377732.1_Intron|PLEKHG5_ENST00000400915.3_Intron|PLEKHG5_ENST00000377728.3_Intron|PLEKHG5_ENST00000377740.3_Intron|PLEKHG5_ENST00000544978.1_Intron|PLEKHG5_ENST00000537245.1_Intron|PLEKHG5_ENST00000377737.2_Intron|PLEKHG5_ENST00000400913.1_5'Flank|PLEKHG5_ENST00000535355.1_5'Flank NM_001265594.1 NP_001252523.1 O94827 PKHG5_HUMAN pleckstrin homology and RhoGEF domain containing G5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|stomach(121) 304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGACTCACCTAGGAACAGG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:29105 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family G (with RhoGef domain) member 5" KIAA0720, Syx, GEF720, Tech "synectin-binding guanine exchange factor" 1p36.31 2017-03-24 2005-08-09 2015-11-18 AK024676 ENSG00000171680 17564964 NM_020631 682 Pleckstrin homology domain containing CCDS79, CCDS41240, CCDS41241, CCDS57967, CCDS57968, CCDS57969 OTTHUMG00000000905 611101 NM_001042663 O94827 ENSG00000171680 uc001anm.3 B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1 true false 0.8051,0.1949 false false 1 false true true PLEKHG5:57449 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.824748,0.175252 false false true SNV 0x05010048000517053f000100 1 false 120 rs11806429 57449 6550505 true 782PLEKHG5 57449 __UNKNOWN__ hg19 1 6579843 6579843 + 5'UTR SNP C C T 1010584 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6579843C>T ENST00000377748.1 - 1 PLEKHG5_ENST00000377740.3_5'UTR|PLEKHG5_ENST00000377737.2_5'UTR NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology and RhoGEF domain containing G5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886) Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|stomach(121) 304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTCGCAGCCGCCGCTCACA 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:29105 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family G (with RhoGef domain) member 5" KIAA0720, Syx, GEF720, Tech "synectin-binding guanine exchange factor" 1p36.31 2017-03-24 2005-08-09 2015-11-18 AK024676 ENSG00000171680 17564964 NM_020631 682 Pleckstrin homology domain containing CCDS79, CCDS41240, CCDS41241, CCDS57967, CCDS57968, CCDS57969 OTTHUMG00000000905 611101 NM_001042663 O94827 ENSG00000171680 uc001anm.3 B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1 true false 0.2646,0.7354 false false 1 false true false PLEKHG5:57449 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.306271,0.693729 false false true SNV 0x05010040000515053f000100 1 false 86 rs1010584 57449 6579843 true 783NOL9 79707 __UNKNOWN__ hg19 1 6592659 6592659 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6592659G>A ENST00000377705.5 - 8 1432 c.1399C>T c.(1399-1401)Cga>Tga p.R467* NM_024654.4 NP_078930.3 Q5SY16 NOL9_HUMAN nucleolar protein 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ maturation of 5.8S rRNA (GO:0000460) membrane (GO:0016020)|nucleolus (GO:0005730) ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAAACGTCGATTTCTCATC 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112278 HGNC:26265 Approved gene with protein product protein-coding gene FLJ23323, NET6, Grc3 "polynucleotide 5'-kinase" 1p36.31 2014-11-19 AK091284 ENSG00000162408 21063389 NM_024654 1301 5FMC ribosome biogenesis complex CCDS80 OTTHUMG00000000904 NM_024654 Q5SY16 ENSG00000162408 uc001ans.4 Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79707 false 784TAS1R1 80835 __UNKNOWN__ hg19 1 6615467 6615467 + Nonsense_Mutation SNP C C T 149094445 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6615467C>T ENST00000333172.6 + 1 227 c.34C>T c.(34-36)Cag>Tag p.Q12* TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.Q12*|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.Q12*|NOL9_ENST00000377705.5_5'Flank NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste 1 receptor member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCGGCCTGCAGCTTCTCAT 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK000153 HGNC:14448 Approved gene with protein product protein-coding gene GPR70 "G protein-coupled receptor 70", "taste receptor, type 1, member 1" T1R1, TR1 1p36.31 2015-12-16 2015-12-16 ENSG00000173662 12856281, 11894099 NM_138697 1161 Taste 1 receptors CCDS81, CCDS82 OTTHUMG00000001441 606225 NM_138697 Q7RTX1 ENSG00000173662 uc001ant.4 B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0 true false 0.9978,0.002196 false false 1 false false false TAS1R1:80835|NOL9:79707 false true false true true false false false false false false false true false false false false false true true false false 0 false 0 true 0.99739,0.00261007 false false false SNV 0x050000020705040436000100 1 false 134 rs149094445 80835 6615467 true 785TAS1R1 80835 __UNKNOWN__ hg19 1 6635346 6635346 + Frame_Shift_Del DEL C C - 867182312 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635346delC ENST00000333172.6 + 3 1346 c.1154delC c.(1153-1155)tctfs p.S385fs TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Frame_Shift_Del_p.S385fs|ZBTB48_ENST00000377674.4_5'Flank NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste 1 receptor member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATGAGTTCTGCCTACAAC 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK000153 HGNC:14448 Approved gene with protein product protein-coding gene GPR70 "G protein-coupled receptor 70", "taste receptor, type 1, member 1" T1R1, TR1 1p36.31 2015-12-16 2015-12-16 ENSG00000173662 12856281, 11894099 NM_138697 1161 Taste 1 receptors CCDS81, CCDS82 OTTHUMG00000001441 606225 NM_138697 Q7RTX1 ENSG00000173662 uc001ant.4 B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0 true false false false false false false TAS1R1:80835 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 147 rs867182312 80835 6635346 false 786TAS1R1 80835 __UNKNOWN__ hg19 1 6635448 6635448 + Nonsense_Mutation SNP G G A 140193828 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6635448G>A ENST00000333172.6 + 3 1449 c.1256G>A c.(1255-1257)tGg>tAg p.W419* TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Nonsense_Mutation_p.W419*|ZBTB48_ENST00000377674.4_5'Flank NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste 1 receptor member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTACCCCTGGCAGGTAAGA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK000153 HGNC:14448 Approved gene with protein product protein-coding gene GPR70 "G protein-coupled receptor 70", "taste receptor, type 1, member 1" T1R1, TR1 1p36.31 2015-12-16 2015-12-16 ENSG00000173662 12856281, 11894099 NM_138697 1161 Taste 1 receptors CCDS81, CCDS82 OTTHUMG00000001441 606225 NM_138697 Q7RTX1 ENSG00000173662 uc001ant.4 B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0 true false 0.9998,0.0001997 false false 0 false false false TAS1R1:80835 false true true true true false false false false false false false true false false false false false false true false true 0 false 0 false 0.999141,0.000858575 false false false SNV 0x050200080605040436000100 1 false 134 rs140193828 80835 6635448 true 787TAS1R1 80835 __UNKNOWN__ hg19 1 6639436 6639436 + Nonsense_Mutation SNP G G A 115030111 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6639436G>A ENST00000333172.6 + 6 2511 c.2318G>A c.(2317-2319)tGg>tAg p.W773* TAS1R1_ENST00000351136.3_Nonsense_Mutation_p.W519*|TAS1R1_ENST00000328191.4_3'UTR|ZBTB48_ENST00000377674.4_5'Flank NM_138697.3 NP_619642.2 Q7RTX1 TS1R1_HUMAN taste 1 receptor member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCGTGTCCTGGATCGCCTTC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK000153 HGNC:14448 Approved gene with protein product protein-coding gene GPR70 "G protein-coupled receptor 70", "taste receptor, type 1, member 1" T1R1, TR1 1p36.31 2015-12-16 2015-12-16 ENSG00000173662 12856281, 11894099 NM_138697 1161 Taste 1 receptors CCDS81, CCDS82 OTTHUMG00000001441 606225 NM_138697 Q7RTX1 ENSG00000173662 uc001ant.4 B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0 true false 0.9986,0.001398 false false 1 false false false TAS1R1:80835|ZBTB48:3104 false true false true true false false false false false false false true false false false false false true true false false 0 false 0 false 0.999004,0.000995948 false false false SNV 0x050000020605040436000100 1 false 132 rs115030111 80835 6639436 true 788ZBTB48 3104 __UNKNOWN__ hg19 1 6647283 6647283 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6647283C>T ENST00000377674.4 + 6 1314 c.1156C>T c.(1156-1158)Cag>Tag p.Q386* NM_005341.3 NP_005332.1 P10074 ZBT48_HUMAN zinc finger and BTB domain containing 48 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTCCCAGCAGTTCATGCA 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Esophageal Squamous(125;1449 1657 4031 29866 49542) U45325 HGNC:4930 Approved gene with protein product protein-coding gene HKR3 "GLI-Kruppel family member HKR3" ZNF855, TZAP "telomeric zinc finger-associated protein" 1p36.31 2017-06-06 2006-09-20 2006-09-20 BC013573 ENSG00000204859 2850480, 8661141, 28082411 NM_005341 861|28 BTB domain containing|Zinc fingers C2H2-type CCDS84 OTTHUMG00000001438 165270 NM_001278647 P10074 ENSG00000204859 uc001anx.5 Q5SY19 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3104 false 789THAP3 90326 __UNKNOWN__ hg19 1 6690413 6690413 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6690413G>A ENST00000054650.4 + 4 491 c.333G>A c.(331-333)aaG>aaA p.K111K THAP3_ENST00000377627.3_Splice_Site_p.K111K|THAP3_ENST00000307896.6_Splice_Site_p.K110K NM_001195753.1 NP_001182682.1 Q8WTV1 THAP3_HUMAN THAP domain containing 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA binding (GO:0003677)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAGAAAAGGTGAGTGCAC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC092427 HGNC:20855 Approved gene with protein product protein-coding gene "THAP domain containing, apoptosis associated protein 3" 1p36.31 2016-10-05 2016-05-16 BC022081 ENSG00000041988 12575992 NM_138350 65 THAP domain containing CCDS86, CCDS55572, CCDS55573 OTTHUMG00000001440 612532 NM_001195752 Q8WTV1 ENSG00000041988 uc001aoe.3 Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 90326 false 790THAP3 90326 __UNKNOWN__ hg19 1 6690413 6690413 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6690413G>A ENST00000054650.4 + 4 491 c.333G>A c.(331-333)aaG>aaA p.K111K THAP3_ENST00000377627.3_Splice_Site_p.K111K|THAP3_ENST00000307896.6_Splice_Site_p.K110K NM_001195753.1 NP_001182682.1 Q8WTV1 THAP3_HUMAN THAP domain containing 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA binding (GO:0003677)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAGAAAAGGTGAGTGCAC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC092427 HGNC:20855 Approved gene with protein product protein-coding gene "THAP domain containing, apoptosis associated protein 3" 1p36.31 2016-10-05 2016-05-16 BC022081 ENSG00000041988 12575992 NM_138350 65 THAP domain containing CCDS86, CCDS55572, CCDS55573 OTTHUMG00000001440 612532 NM_001195752 Q8WTV1 ENSG00000041988 uc001aoe.3 Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 90326 false 791THAP3 90326 __UNKNOWN__ hg19 1 6694207 6694207 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6694207A>G ENST00000377627.3 + 5 NM_138350.3 NP_612359.2 Q8WTV1 THAP3_HUMAN THAP domain containing 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA binding (GO:0003677)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAACACACAATACACGGAAG 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC092427 HGNC:20855 Approved gene with protein product protein-coding gene "THAP domain containing, apoptosis associated protein 3" 1p36.31 2016-10-05 2016-05-16 BC022081 ENSG00000041988 12575992 NM_138350 65 THAP domain containing CCDS86, CCDS55572, CCDS55573 OTTHUMG00000001440 612532 NM_001195752 Q8WTV1 ENSG00000041988 uc001aoe.3 Q569K1|Q5TH66|Q5TH67|Q8N8T6|Q9BSC7|Q9Y3H2|Q9Y3H3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 90326 false 792DNAJC11 55735 __UNKNOWN__ hg19 1 6695123 6695123 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6695123C>T ENST00000377577.5 - 16 THAP3_ENST00000377627.3_3'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000465508.1_Intron NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ heat shock protein family (Hsp40) member C11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743) biliary_tract(2)|breast(12)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 184 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGAATGACTTGAGCAGCT 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC014145 HGNC:25570 Approved gene with protein product protein-coding gene "DnaJ (Hsp40) homolog, subfamily C, member 11" FLJ10737 1p36.31 2016-10-05 2015-11-19 AF306695 ENSG00000007923 12964007 NM_018198 584 DNAJ (HSP40) heat shock proteins CCDS87 OTTHUMG00000001443 614827 NM_018198 Q9NVH1 ENSG00000007923 uc001aof.3 Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55735 false 793RP11-242F24.1 __UNKNOWN__ hg19 1 6785946 6785946 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:6785946G>T ENST00000432429.1 + c.e2-51G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGTCTGTTGCACCCCAATG 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 794CAMTA1 23261 __UNKNOWN__ hg19 1 7826559 7826559 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7826559C>T ENST00000303635.7 + 23 CAMTA1_ENST00000476864.1_Nonsense_Mutation_p.Q231*|CAMTA1_ENST00000439411.2_Nonsense_Mutation_p.Q1653*|VAMP3_ENST00000054666.6_5'Flank NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677) biliary_tract(27)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(8) 124 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGACATACAGCAGCATCC 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ T WWTR1 epitheliod hemangioendothelioma __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calmodulin binding transcription activator 1 611501 1 1p36.31-p36.23 yes M Dom Z98884 HGNC:18806 Approved gene with protein product protein-coding gene KIAA0833 1p36.31-p36.23 2017-06-08 AB020640 ENSG00000171735 11925432 NM_015215 CCDS30576, CCDS55574, CCDS55575 OTTHUMG00000001212 611501 NM_001195563 Q9Y6Y1 ENSG00000171735 uc001aoi.3 A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23261 false 795VAMP3 9341 __UNKNOWN__ hg19 1 7838228 7838228 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7838228C>T ENST00000470357.1 + 4 772 c.198C>T c.(196-198)atC>atT p.I66I VAMP3_ENST00000054666.6_Splice_Site_p.I94I Q15836 VAMP3_HUMAN vesicle associated membrane protein 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCATCATCATCGGTGAGTTAC 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT Z98884 HGNC:12644 Approved gene with protein product protein-coding gene CEB "cellubrevin" 1p36.23 2015-11-05 2015-11-05 BC003570 ENSG00000049245 9885218 NM_004781 12 Vesicle associated membrane proteins CCDS88 OTTHUMG00000001225 603657 NM_004781 Q15836 ENSG00000049245 uc001aol.3 Q9BRV4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9341 false 796VAMP3 9341 __UNKNOWN__ hg19 1 7838228 7838228 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7838228C>T ENST00000470357.1 + 4 772 c.198C>T c.(196-198)atC>atT p.I66I VAMP3_ENST00000054666.6_Splice_Site_p.I94I Q15836 VAMP3_HUMAN vesicle associated membrane protein 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCATCATCATCGGTGAGTTAC 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT Z98884 HGNC:12644 Approved gene with protein product protein-coding gene CEB "cellubrevin" 1p36.23 2015-11-05 2015-11-05 BC003570 ENSG00000049245 9885218 NM_004781 12 Vesicle associated membrane proteins CCDS88 OTTHUMG00000001225 603657 NM_004781 Q15836 ENSG00000049245 uc001aol.3 Q9BRV4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9341 false 797VAMP3 9341 __UNKNOWN__ hg19 1 7838230 7838230 + Splice_Site SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7838230G>T ENST00000470357.1 + c.e4+1G>T c.e4+1 VAMP3_ENST00000054666.6_Splice_Site Q15836 VAMP3_HUMAN vesicle associated membrane protein 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192) apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCATCATCGGTGAGTTACCC 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON Z98884 HGNC:12644 Approved gene with protein product protein-coding gene CEB "cellubrevin" 1p36.23 2015-11-05 2015-11-05 BC003570 ENSG00000049245 9885218 NM_004781 12 Vesicle associated membrane proteins CCDS88 OTTHUMG00000001225 603657 NM_004781 Q15836 ENSG00000049245 uc001aol.3 Q9BRV4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9341 false 798PER3 8863 __UNKNOWN__ hg19 1 7846779 7846779 + Splice_Site SNP A A G 143519087 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7846779A>G ENST00000377532.3 + c.e3-2A>G c.e3-2 PER3_ENST00000361923.2_Splice_Site|PER3_ENST00000377541.1_Splice_Site P56645 PER3_HUMAN period circadian regulator 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGTTTCTTAGCAAACAGTG 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON Z98884 HGNC:8847 Approved gene with protein product protein-coding gene "period (Drosophila) homolog 3", "period homolog 3 (Drosophila)", "period circadian clock 3" 1p36.23 2017-10-02 2017-10-02 BC026102 ENSG00000049246 9427249 NM_016831 CCDS89, CCDS72695, CCDS76097 OTTHUMG00000001216 603427 NM_001289861 P56645 ENSG00000049246 uc057bxs.1 Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 true true false false false false false PER3:8863 false true true false false false false false false false false false false false false false false false true false false false 0 false 0 false false false false SNV 0x0500002a0005000402000100 1 false 134 rs143519087 8863 7846779 false 799PER3 8863 __UNKNOWN__ hg19 1 7854012 7854015 + Splice_Site DEL TCTA TCTA - 773875104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7854012_7854015delTCTA ENST00000377532.3 + c.e5-6TTCTA>T c.e5-5 PER3_ENST00000361923.2_Intron|PER3_ENST00000377541.1_Intron P56645 PER3_HUMAN period circadian regulator 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCTTTCTTTCTAGCAGCTGCAC 0.400990099009901 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON Z98884 HGNC:8847 Approved gene with protein product protein-coding gene "period (Drosophila) homolog 3", "period homolog 3 (Drosophila)", "period circadian clock 3" 1p36.23 2017-10-02 2017-10-02 BC026102 ENSG00000049246 9427249 NM_016831 CCDS89, CCDS72695, CCDS76097 OTTHUMG00000001216 603427 NM_001289861 P56645 ENSG00000049246 uc057bxs.1 Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 true true false false false false false PER3:8863 false true true false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000280005000402000200 1 false 144 rs773875104 8863 7854012 false 800PER3 8863 __UNKNOWN__ hg19 1 7854068 7854068 + Splice_Site SNP G G A 754053184 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7854068G>A ENST00000377532.3 + 5 868 c.644G>A c.(643-645)cGt>cAt p.R215H PER3_ENST00000361923.2_Splice_Site_p.R214H|PER3_ENST00000377541.1_Splice_Site_p.R214H P56645 PER3_HUMAN period circadian regulator 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCAGGATCCGGTAAGTATAG 0.39650872817955113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE Z98884 HGNC:8847 Approved gene with protein product protein-coding gene "period (Drosophila) homolog 3", "period homolog 3 (Drosophila)", "period circadian clock 3" 1p36.23 2017-10-02 2017-10-02 BC026102 ENSG00000049246 9427249 NM_016831 CCDS89, CCDS72695, CCDS76097 OTTHUMG00000001216 603427 NM_001289861 P56645 ENSG00000049246 uc057bxs.1 Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 true false false false false false false PER3:8863 false false false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false true SNV 0x050000400a05040002000100 1 false 144 rs754053184 8863 7854068 true 801PER3 8863 __UNKNOWN__ hg19 1 7869953 7869953 + Splice_Site SNP C C G 150812083 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7869953C>G ENST00000377532.3 + 11 1467 c.1243C>G c.(1243-1245)Cca>Gca p.P415A PER3_ENST00000361923.2_Splice_Site_p.P414A P56645 PER3_HUMAN period circadian regulator 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCTTCCAGCCAGTTCACGT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE Z98884 HGNC:8847 Approved gene with protein product protein-coding gene "period (Drosophila) homolog 3", "period homolog 3 (Drosophila)", "period circadian clock 3" 1p36.23 2017-10-02 2017-10-02 BC026102 ENSG00000049246 9427249 NM_016831 CCDS89, CCDS72695, CCDS76097 OTTHUMG00000001216 603427 NM_001289861 P56645 ENSG00000049246 uc057bxs.1 Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 true false 0.9966,0.003395 false false 1 false false false PER3:8863 false true false true true false false false false false false true false false false true true false false true false true 0 false 0 false 0.998042,0.00195755 false false false SNV 0x050228000a05040436000100 1 false 134 rs150812083 8863 7869953 true 802PER3 8863 __UNKNOWN__ hg19 1 7879481 7879481 + Splice_Site SNP G G A 771451809 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7879481G>A ENST00000377532.3 + c.e13+1G>A c.e13+1 PER3_ENST00000361923.2_Splice_Site|RP3-467L1.4_ENST00000451646.1_RNA P56645 PER3_HUMAN period circadian regulator 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTCATCAGGTATGAGACCG 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON Z98884 HGNC:8847 Approved gene with protein product protein-coding gene "period (Drosophila) homolog 3", "period homolog 3 (Drosophila)", "period circadian clock 3" 1p36.23 2017-10-02 2017-10-02 BC026102 ENSG00000049246 9427249 NM_016831 CCDS89, CCDS72695, CCDS76097 OTTHUMG00000001216 603427 NM_001289861 P56645 ENSG00000049246 uc057bxs.1 Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 true false false false true false false PER3:8863 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false SNV 0x050000100005000402000100 1 false 144 rs771451809 8863 7879481 false 803PER3 8863 __UNKNOWN__ hg19 1 7897139 7897139 + Frame_Shift_Del DEL A A - 773961726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7897139delA ENST00000377532.3 + 20 3702 c.3479delA c.(3478-3480)caafs p.K1161fs PER3_ENST00000361923.2_Frame_Shift_Del_p.K1152fs P56645 PER3_HUMAN period circadian regulator 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCATGGGCAAAAGGAGGAG 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98884 HGNC:8847 Approved gene with protein product protein-coding gene "period (Drosophila) homolog 3", "period homolog 3 (Drosophila)", "period circadian clock 3" 1p36.23 2017-10-02 2017-10-02 BC026102 ENSG00000049246 9427249 NM_016831 CCDS89, CCDS72695, CCDS76097 OTTHUMG00000001216 603427 NM_001289861 P56645 ENSG00000049246 uc057bxs.1 Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 true false false false false false false PER3:8863 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs773961726 8863 7897139 false 804PER3 8863 __UNKNOWN__ hg19 1 7897180 7897180 + Nonsense_Mutation SNP C C T 748839772 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7897180C>T ENST00000377532.3 + 20 3744 c.3520C>T c.(3520-3522)Cag>Tag p.Q1174* PER3_ENST00000361923.2_Nonsense_Mutation_p.Q1165* P56645 PER3_HUMAN period circadian regulator 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) signal transducer activity (GO:0004871) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTCAAAGCCAGACTGTCAC 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98884 HGNC:8847 Approved gene with protein product protein-coding gene "period (Drosophila) homolog 3", "period homolog 3 (Drosophila)", "period circadian clock 3" 1p36.23 2017-10-02 2017-10-02 BC026102 ENSG00000049246 9427249 NM_016831 CCDS89, CCDS72695, CCDS76097 OTTHUMG00000001216 603427 NM_001289861 P56645 ENSG00000049246 uc057bxs.1 Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8 true false false false false false false PER3:8863 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605000402000100 1 false 144 rs748839772 8863 7897180 false 805UTS2 10911 __UNKNOWN__ hg19 1 7907859 7907859 + Silent SNP C C T 757148544 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7907859C>T ENST00000361696.5 - 4 374 c.342G>A c.(340-342)gaG>gaA p.E114E UTS2_ENST00000054668.5_Silent_p.E129E|UTS2_ENST00000377516.2_Intron NM_006786.3 NP_006777.1 O95399 UTS2_HUMAN urotensin 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATCAGGAGTCTCACGTTTCT 0.35910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98884 HGNC:12636 Approved gene with protein product protein-coding gene UII, U-II, UCN2, PRO1068 "prepro U-II" 1p36.23 2016-10-05 AF104118 ENSG00000049247 9861051, 10499587 NM_006786 542 Endogenous ligands CCDS90, CCDS91 OTTHUMG00000001218 604097 NM_006786 O95399 ENSG00000049247 uc001aos.4 Q5H8X7|Q6UXF6|Q9UKP7 true false false false false false false UTS2:10911 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999931,6.8686e-005 false false false SNV 0x050000000305040402000100 1 false 144 rs757148544 10911 7907859 true 806UTS2 10911 __UNKNOWN__ hg19 1 7913430 7913430 + DE_NOVO_START_IN_FRAME SNP G G A 228648 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7913430G>A ENST00000377516.2 - 1 UTS2_ENST00000054668.5_Missense_Mutation_p.T21M|UTS2_ENST00000361696.5_5'Flank O95399 UTS2_HUMAN urotensin 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ muscle contraction (GO:0006936)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell differentiation (GO:0045597)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of heart rate (GO:0010460)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to testosterone (GO:0033574)|synaptic transmission (GO:0007268) extracellular region (GO:0005576)|extracellular space (GO:0005615) hormone activity (GO:0005179)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAAAGAGACGTGGATTTATG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98884 HGNC:12636 Approved gene with protein product protein-coding gene UII, U-II, UCN2, PRO1068 "prepro U-II" 1p36.23 2016-10-05 AF104118 ENSG00000049247 9861051, 10499587 NM_006786 542 Endogenous ligands CCDS90, CCDS91 OTTHUMG00000001218 604097 NM_006786 O95399 ENSG00000049247 uc001aos.4 Q5H8X7|Q6UXF6|Q9UKP7 true false 0.5216,0.4784 false false 1 false true true UTS2:10911 true true false true true false false false false false false true false false false true true false true true false false 0 true 0 false 0.476578,0.523422 false false false SNV 0x050128020a0517053f000101 1 false 79 rs228648 10911 7913430 true 807TNFRSF9 3604 __UNKNOWN__ hg19 1 7980338 7980338 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7980338A>G ENST00000377507.3 - 8 NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN TNF receptor superfamily member 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285) integral component of plasma membrane (GO:0005887) receptor activity (GO:0004872) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22) 246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTAGCTCAAACCTGTTAAGT 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U03397 HGNC:11924 Approved gene with protein product protein-coding gene ILA "tumor necrosis factor receptor superfamily, member 9" CD137, 4-1BB 1p36.23 2016-10-05 2016-06-28 L12964 ENSG00000049249 8262389, 8639902 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS92 OTTHUMG00000001223 602250 NM_001561 Q07011 ENSG00000049249 uc001aot.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3604 false 808TNFRSF9 3604 __UNKNOWN__ hg19 1 7998254 7998254 + Splice_Site SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7998254T>G ENST00000377507.3 - 4 512 c.345A>C c.(343-345)aaA>aaC p.K115N NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN TNF receptor superfamily member 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285) integral component of plasma membrane (GO:0005887) receptor activity (GO:0004872) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22) 246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAACGTACCTTTTTTTGTCA 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE U03397 HGNC:11924 Approved gene with protein product protein-coding gene ILA "tumor necrosis factor receptor superfamily, member 9" CD137, 4-1BB 1p36.23 2016-10-05 2016-06-28 L12964 ENSG00000049249 8262389, 8639902 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS92 OTTHUMG00000001223 602250 NM_001561 Q07011 ENSG00000049249 uc001aot.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3604 false 809TNFRSF9 3604 __UNKNOWN__ hg19 1 7998390 7998390 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7998390C>T ENST00000377507.3 - 4 376 c.209G>A c.(208-210)gGt>gAt p.G70D NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN TNF receptor superfamily member 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285) integral component of plasma membrane (GO:0005887) receptor activity (GO:0004872) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22) 246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGAAAACACCTACAAAGTC 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE U03397 HGNC:11924 Approved gene with protein product protein-coding gene ILA "tumor necrosis factor receptor superfamily, member 9" CD137, 4-1BB 1p36.23 2016-10-05 2016-06-28 L12964 ENSG00000049249 8262389, 8639902 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS92 OTTHUMG00000001223 602250 NM_001561 Q07011 ENSG00000049249 uc001aot.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3604 false 810TNFRSF9 3604 __UNKNOWN__ hg19 1 7999982 7999982 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:7999982G>A ENST00000377507.3 - 2 240 c.73C>T c.(73-75)Cag>Tag p.Q25* NM_001561.5 NP_001552.2 Q07011 TNR9_HUMAN TNF receptor superfamily member 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285) integral component of plasma membrane (GO:0005887) receptor activity (GO:0004872) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22) 246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGGATCCTGCAATGATCTT 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U03397 HGNC:11924 Approved gene with protein product protein-coding gene ILA "tumor necrosis factor receptor superfamily, member 9" CD137, 4-1BB 1p36.23 2016-10-05 2016-06-28 L12964 ENSG00000049249 8262389, 8639902 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS92 OTTHUMG00000001223 602250 NM_001561 Q07011 ENSG00000049249 uc001aot.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3604 false 811PARK7 11315 __UNKNOWN__ hg19 1 8021973 8021973 + 5'UTR SNP G G T 35675666 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8021973G>T ENST00000377491.1 + 1 PARK7_ENST00000493678.1_Intron|PARK7_ENST00000338639.5_Intron|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000377488.1_5'Flank|PARK7_ENST00000497113.1_5'Flank Q99497 PARK7_HUMAN Parkinsonism associated deglycase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGGGCCTGGGTCGGGGCCG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D61380 HGNC:16369 Approved gene with protein product protein-coding gene "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7" DJ-1, DJ1, GATD2 1p36.23 2017-07-25 2016-02-15 D61380 ENSG00000116288 11462174, 9070310, 25416785, 28596309 NM_007262 672|1408 Parkinson disease associated genes|Glutamine amidotransferase like class 1 domain containing CCDS93 OTTHUMG00000001210 602533 NM_001123377 Q99497 ENSG00000116288 uc057byc.1 B2R4Z1|O14805|Q6DR95|Q7LFU2 true false 0.8518,.,0.1482 false false 1 false true true PARK7:11315 true true true true true false true false false false false false false false false true true false true false false false 0 true 0 false 0.816402,.,0.183598 false false false SNV 0x0501280a0005170537020100 1 false 126 rs35675666 11315 8021973 true 812PARK7 11315 __UNKNOWN__ hg19 1 8029464 8029464 + Splice_Site SNP G G A 749774196 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8029464G>A ENST00000493678.1 + 4 319 c.252G>A c.(250-252)gaG>gaA p.E84E PARK7_ENST00000377491.1_Splice_Site_p.E84E|PARK7_ENST00000338639.5_Splice_Site_p.E84E|PARK7_ENST00000377488.1_Splice_Site_p.E84E|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000497113.1_Splice_Site Q99497 PARK7_HUMAN Parkinsonism associated deglycase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTATCTGAGGTAAAAAATT 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT D61380 HGNC:16369 Approved gene with protein product protein-coding gene "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7" DJ-1, DJ1, GATD2 1p36.23 2017-07-25 2016-02-15 D61380 ENSG00000116288 11462174, 9070310, 25416785, 28596309 NM_007262 672|1408 Parkinson disease associated genes|Glutamine amidotransferase like class 1 domain containing CCDS93 OTTHUMG00000001210 602533 NM_001123377 Q99497 ENSG00000116288 uc057byc.1 B2R4Z1|O14805|Q6DR95|Q7LFU2 true false false false false false false PARK7:11315 false true true false false false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000080305000402000100 1 false 144 rs749774196 11315 8029464 false 813PARK7 11315 __UNKNOWN__ hg19 1 8029464 8029464 + Splice_Site SNP G G A 749774196 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8029464G>A ENST00000493678.1 + 4 319 c.252G>A c.(250-252)gaG>gaA p.E84E PARK7_ENST00000377491.1_Splice_Site_p.E84E|PARK7_ENST00000338639.5_Splice_Site_p.E84E|PARK7_ENST00000377488.1_Splice_Site_p.E84E|PARK7_ENST00000377493.5_Intron|PARK7_ENST00000497113.1_Splice_Site Q99497 PARK7_HUMAN Parkinsonism associated deglycase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTATCTGAGGTAAAAAATT 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT D61380 HGNC:16369 Approved gene with protein product protein-coding gene "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7" DJ-1, DJ1, GATD2 1p36.23 2017-07-25 2016-02-15 D61380 ENSG00000116288 11462174, 9070310, 25416785, 28596309 NM_007262 672|1408 Parkinson disease associated genes|Glutamine amidotransferase like class 1 domain containing CCDS93 OTTHUMG00000001210 602533 NM_001123377 Q99497 ENSG00000116288 uc057byc.1 B2R4Z1|O14805|Q6DR95|Q7LFU2 true false false false false false false PARK7:11315 false true true false false false false false false false false false false false false false false false false true false false 0 false 0 true false false false SNV 0x050000080305000402000100 1 false 144 rs749774196 11315 8029464 false 814PARK7 11315 __UNKNOWN__ hg19 1 8045015 8045017 + In_Frame_Del DEL GCC GCC - 764877312 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8045015_8045017delGCC ENST00000493678.1 + 7 537_539 c.471_473delGCC c.(469-474)gggcct>ggt p.P158del PARK7_ENST00000377491.1_In_Frame_Del_p.P158del|PARK7_ENST00000338639.5_In_Frame_Del_p.P158del|PARK7_ENST00000377488.1_In_Frame_Del_p.P158del|PARK7_ENST00000377493.5_In_Frame_Del_p.P138del|Y_RNA_ENST00000363474.1_5'Flank Q99497 PARK7_HUMAN Parkinsonism associated deglycase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult locomotory behavior (GO:0008344)|autophagy (GO:0006914)|cellular response to glyoxal (GO:0036471)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to oxidative stress (GO:0034599)|dopamine uptake involved in synaptic transmission (GO:0051583)|glycolate biosynthetic process (GO:0046295)|glyoxal catabolic process (GO:1903190)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|lactate biosynthetic process (GO:0019249)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|methylglyoxal catabolic process to D-lactate (GO:0019243)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of death-inducing signaling complex assembly (GO:1903073)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of hydrogen peroxide-induced neuron death (GO:1903208)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein acetylation (GO:1901984)|negative regulation of protein binding (GO:0032091)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of protein K48-linked deubiquitination (GO:1903094)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of TRAIL-activated apoptotic signaling pathway (GO:1903122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|negative regulation of ubiquitin-specific protease activity (GO:2000157)|positive regulation of androgen receptor activity (GO:2000825)|positive regulation of dopamine biosynthetic process (GO:1903181)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of L-dopa biosynthetic process (GO:1903197)|positive regulation of L-dopa decarboxylase activity (GO:1903200)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of oxidative phosphorylation uncoupler activity (GO:2000277)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein localization to nucleus (GO:1900182)|positive regulation of pyrroline-5-carboxylate reductase activity (GO:1903168)|positive regulation of superoxide dismutase activity (GO:1901671)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine 3-monooxygenase activity (GO:1903178)|protein stabilization (GO:0050821)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of fibril organization (GO:1902903)|regulation of inflammatory response (GO:0050727)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of neuron apoptotic process (GO:0043523)|single fertilization (GO:0007338) chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605) androgen receptor binding (GO:0050681)|cupric ion binding (GO:1903135)|cuprous ion binding (GO:1903136)|cytokine binding (GO:0019955)|enzyme binding (GO:0019899)|glyoxalase (glycolic acid-forming) activity (GO:1990422)|glyoxalase III activity (GO:0019172)|identical protein binding (GO:0042802)|L-dopa decarboxylase activator activity (GO:0036478)|mRNA binding (GO:0003729)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|peptidase activity (GO:0008233)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|repressing transcription factor binding (GO:0070491)|RNA binding (GO:0003723)|scaffold protein binding (GO:0097110)|small protein activating enzyme binding (GO:0044388)|small protein conjugating enzyme binding (GO:0044390)|superoxide dismutase copper chaperone activity (GO:0016532)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|tyrosine 3-monooxygenase activator activity (GO:0036470)|ubiquitin-specific protease binding (GO:1990381) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCCGGGGGCCTGGGACCAGC 0.4466501240694789 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D61380 HGNC:16369 Approved gene with protein product protein-coding gene "Parkinson disease (autosomal recessive, early onset) 7", "parkinson protein 7" DJ-1, DJ1, GATD2 1p36.23 2017-07-25 2016-02-15 D61380 ENSG00000116288 11462174, 9070310, 25416785, 28596309 NM_007262 672|1408 Parkinson disease associated genes|Glutamine amidotransferase like class 1 domain containing CCDS93 OTTHUMG00000001210 602533 NM_001123377 Q99497 ENSG00000116288 uc057byc.1 B2R4Z1|O14805|Q6DR95|Q7LFU2 true false false false false false false PARK7:11315 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005040402000200 1 false 144 rs764877312 11315 8045015 true 815ERRFI1 54206 __UNKNOWN__ hg19 1 8073830 8073830 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8073830C>T ENST00000469499.1 - 3 ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.D277N|ERRFI1_ENST00000467067.1_3'UTR Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589) cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTCTTCATCGGAGTTAGGA 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL034417 HGNC:18185 Approved gene with protein product protein-coding gene MIG-6, GENE-33, RALT 1p36.23 2014-11-19 BC025337 ENSG00000116285 10749885, 2780291, 12226756, 11003669 NM_018948 CCDS94 OTTHUMG00000001221 608069 NM_018948 Q9UJM3 ENSG00000116285 uc001aoz.4 B2RDX9|Q9NTG9|Q9UD05 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54206 false 816ERRFI1 54206 __UNKNOWN__ hg19 1 8073919 8073919 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8073919C>T ENST00000469499.1 - 3 ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.R247K|ERRFI1_ENST00000467067.1_3'UTR Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589) cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGAGACCTTCTTAATCTTCG 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL034417 HGNC:18185 Approved gene with protein product protein-coding gene MIG-6, GENE-33, RALT 1p36.23 2014-11-19 BC025337 ENSG00000116285 10749885, 2780291, 12226756, 11003669 NM_018948 CCDS94 OTTHUMG00000001221 608069 NM_018948 Q9UJM3 ENSG00000116285 uc001aoz.4 B2RDX9|Q9NTG9|Q9UD05 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54206 false 817ERRFI1 54206 __UNKNOWN__ hg19 1 8073925 8073925 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8073925C>T ENST00000469499.1 - 3 ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.R245K|ERRFI1_ENST00000467067.1_3'UTR Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589) cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTCTTAATCTTCGGTGGGT 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL034417 HGNC:18185 Approved gene with protein product protein-coding gene MIG-6, GENE-33, RALT 1p36.23 2014-11-19 BC025337 ENSG00000116285 10749885, 2780291, 12226756, 11003669 NM_018948 CCDS94 OTTHUMG00000001221 608069 NM_018948 Q9UJM3 ENSG00000116285 uc001aoz.4 B2RDX9|Q9NTG9|Q9UD05 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54206 false 818ERRFI1 54206 __UNKNOWN__ hg19 1 8073943 8073943 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8073943G>A ENST00000469499.1 - 3 ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.P239L|ERRFI1_ENST00000467067.1_3'UTR Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589) cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCTGAGGTGGAGGAGGATT 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL034417 HGNC:18185 Approved gene with protein product protein-coding gene MIG-6, GENE-33, RALT 1p36.23 2014-11-19 BC025337 ENSG00000116285 10749885, 2780291, 12226756, 11003669 NM_018948 CCDS94 OTTHUMG00000001221 608069 NM_018948 Q9UJM3 ENSG00000116285 uc001aoz.4 B2RDX9|Q9NTG9|Q9UD05 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54206 false 819ERRFI1 54206 __UNKNOWN__ hg19 1 8074094 8074094 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8074094A>G ENST00000469499.1 - 3 ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.S189P|ERRFI1_ENST00000467067.1_3'UTR Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589) cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGAAATCAGAAAGTGTAGAG 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL034417 HGNC:18185 Approved gene with protein product protein-coding gene MIG-6, GENE-33, RALT 1p36.23 2014-11-19 BC025337 ENSG00000116285 10749885, 2780291, 12226756, 11003669 NM_018948 CCDS94 OTTHUMG00000001221 608069 NM_018948 Q9UJM3 ENSG00000116285 uc001aoz.4 B2RDX9|Q9NTG9|Q9UD05 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54206 false 820ERRFI1 54206 __UNKNOWN__ hg19 1 8074187 8074187 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8074187T>G ENST00000469499.1 - 3 ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.I158L|ERRFI1_ENST00000467067.1_3'UTR Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589) cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTCAGAGATTGGCAACGGT 0.47381546134663344 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL034417 HGNC:18185 Approved gene with protein product protein-coding gene MIG-6, GENE-33, RALT 1p36.23 2014-11-19 BC025337 ENSG00000116285 10749885, 2780291, 12226756, 11003669 NM_018948 CCDS94 OTTHUMG00000001221 608069 NM_018948 Q9UJM3 ENSG00000116285 uc001aoz.4 B2RDX9|Q9NTG9|Q9UD05 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54206 false 821ERRFI1 54206 __UNKNOWN__ hg19 1 8074334 8074334 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8074334C>T ENST00000469499.1 - 3 ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000377482.5_Missense_Mutation_p.D109N|ERRFI1_ENST00000467067.1_3'UTR Q9UJM3 ERRFI_HUMAN ERBB receptor feedback inhibitor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lung alveolus development (GO:0048286)|lung epithelium development (GO:0060428)|lung vasculature development (GO:0060426)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of protein autophosphorylation (GO:0031953)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of keratinocyte differentiation (GO:0045616)|response to stress (GO:0006950)|skin morphogenesis (GO:0043589) cytoplasm (GO:0005737)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634) protein kinase binding (GO:0019901)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAACTTGATCCTCTTCATGT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL034417 HGNC:18185 Approved gene with protein product protein-coding gene MIG-6, GENE-33, RALT 1p36.23 2014-11-19 BC025337 ENSG00000116285 10749885, 2780291, 12226756, 11003669 NM_018948 CCDS94 OTTHUMG00000001221 608069 NM_018948 Q9UJM3 ENSG00000116285 uc001aoz.4 B2RDX9|Q9NTG9|Q9UD05 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54206 false 822RP11-431K24.1 __UNKNOWN__ hg19 1 8094200 8094200 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8094200T>G ENST00000445300.1 + c.e2+4783T>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATGCACAGATTTTTGGAGAG 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 823RP11-431K24.1 __UNKNOWN__ hg19 1 8095500 8095500 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8095500T>G ENST00000445300.1 + c.e2+6083T>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTAGGAATTTGTTGCATTCA 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 824RP11-431K24.1 __UNKNOWN__ hg19 1 8098462 8098462 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8098462G>A ENST00000445300.1 + c.e2+9045G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTTGTCCTGTCTCATTAGA 0.341645885286783 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 825RP11-431K24.1 __UNKNOWN__ hg19 1 8106987 8106987 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8106987T>G ENST00000445300.1 + c.e2+17570T>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTGTCATTTTTGCAGATAC 0.371571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 826RP11-431K24.1 __UNKNOWN__ hg19 1 8118634 8118634 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8118634T>C ENST00000445300.1 + c.e2+29217T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGATTACCATGTACTCCCAG 0.513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 827RP11-431K24.1 __UNKNOWN__ hg19 1 8119251 8119251 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8119251G>T ENST00000445300.1 + c.e2+29834G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGTTCTCATGATCTTGAAGT 0.33915211970074816 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 828RP11-431K24.1 __UNKNOWN__ hg19 1 8160832 8160832 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8160832C>T ENST00000445300.1 + c.e3-20702C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAAAACCAGCGAAGTCAAAA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 829RP11-431K24.1 __UNKNOWN__ hg19 1 8168564 8168564 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8168564C>T ENST00000445300.1 + c.e3-12970C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGAACTATCGAGCCCAGGT 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 830RP11-431K24.1 __UNKNOWN__ hg19 1 8177482 8177482 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8177482A>G ENST00000445300.1 + c.e3-4052A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGGTGGAAATTTTGTAAAG 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 831RP11-431K24.1 __UNKNOWN__ hg19 1 8180210 8180210 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8180210G>A ENST00000445300.1 + c.e3-1324G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTCCTCACGGTAGCCCACA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 832RP11-431K24.1 __UNKNOWN__ hg19 1 8182535 8182535 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8182535G>T ENST00000445300.1 + c.e3-227G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTGTTACAGTTTTACTAAC 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 833RP11-431K24.3 __UNKNOWN__ hg19 1 8274018 8274018 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8274018G>A ENST00000452982.1 + c.e3-667G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGCCATGGGGTTAGTAAGA 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 834RP11-431K24.4 __UNKNOWN__ hg19 1 8278899 8278899 + RNA SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8278899A>C ENST00000424689.1 - c.e2+306T>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACTTGGTTATTGCGTCACT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 835RP11-431K24.4 __UNKNOWN__ hg19 1 8280517 8280517 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8280517C>T ENST00000424689.1 - c.e1+60G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCGACCACACAAGCAAGCAG 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 836RNU6-991P 106480004 __UNKNOWN__ hg19 1 8352240 8352240 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8352240C>T ENST00000516168.1 - c.e1+23G>A RNA, U6 small nuclear 991, pseudogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTCATGAACCCGCTGGTCA 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:47954 Approved pseudogene pseudogene 1p36.23 2013-05-01 ENSG00000251977 NG_043949 ENSG00000251977 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 106480004 false 837SLC45A1 50651 __UNKNOWN__ hg19 1 8384785 8384785 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8384785C>T ENST00000471889.1 + 2 781 c.396C>T c.(394-396)ctC>ctT p.L132L SLC45A1_ENST00000289877.8_Splice_Site_p.L132L|SLC45A1_ENST00000377479.2_Splice_Site_p.L166L|Y_RNA_ENST00000516445.1_5'Flank Q9Y2W3 S45A1_HUMAN solute carrier family 45 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643) integral component of membrane (GO:0016021) symporter activity (GO:0015293) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCATCCTCGGTGAGCCCC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL356072 HGNC:17939 Approved gene with protein product protein-coding gene DNB5 "deleted in neuroblastoma 5", "solute carrier family 45, member 1" "H+/sugar symporter" 1p36.23 2016-04-25 2005-10-04 2015-12-08 AF118274 ENSG00000162426 10729226 752 Solute carriers CCDS30577 OTTHUMG00000000503 605763 NM_001080397 Q9Y2W3 ENSG00000162426 uc001apb.3 Q5VY46|Q5VY49 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 50651 false 838SLC45A1 50651 __UNKNOWN__ hg19 1 8384785 8384785 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8384785C>T ENST00000471889.1 + 2 781 c.396C>T c.(394-396)ctC>ctT p.L132L SLC45A1_ENST00000289877.8_Splice_Site_p.L132L|SLC45A1_ENST00000377479.2_Splice_Site_p.L166L|Y_RNA_ENST00000516445.1_5'Flank Q9Y2W3 S45A1_HUMAN solute carrier family 45 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643) integral component of membrane (GO:0016021) symporter activity (GO:0015293) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCATCCTCGGTGAGCCCC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL356072 HGNC:17939 Approved gene with protein product protein-coding gene DNB5 "deleted in neuroblastoma 5", "solute carrier family 45, member 1" "H+/sugar symporter" 1p36.23 2016-04-25 2005-10-04 2015-12-08 AF118274 ENSG00000162426 10729226 752 Solute carriers CCDS30577 OTTHUMG00000000503 605763 NM_001080397 Q9Y2W3 ENSG00000162426 uc001apb.3 Q5VY46|Q5VY49 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 50651 false 839SLC45A1 50651 __UNKNOWN__ hg19 1 8390888 8390888 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8390888G>A ENST00000471889.1 + 5 1720 c.1335G>A c.(1333-1335)ccG>ccA p.P445P SLC45A1_ENST00000289877.8_Silent_p.P445P|SLC45A1_ENST00000377479.2_Silent_p.P479P|SLC45A1_ENST00000481265.1_Intron Q9Y2W3 S45A1_HUMAN solute carrier family 45 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643) integral component of membrane (GO:0016021) symporter activity (GO:0015293) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTAAGCCGAGGTCATCAG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL356072 HGNC:17939 Approved gene with protein product protein-coding gene DNB5 "deleted in neuroblastoma 5", "solute carrier family 45, member 1" "H+/sugar symporter" 1p36.23 2016-04-25 2005-10-04 2015-12-08 AF118274 ENSG00000162426 10729226 752 Solute carriers CCDS30577 OTTHUMG00000000503 605763 NM_001080397 Q9Y2W3 ENSG00000162426 uc001apb.3 Q5VY46|Q5VY49 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 50651 false 840SLC45A1 50651 __UNKNOWN__ hg19 1 8399759 8399759 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8399759G>A ENST00000471889.1 + c.e8+1G>A c.e8+1 SLC45A1_ENST00000289877.8_Splice_Site|SLC45A1_ENST00000377479.2_Splice_Site Q9Y2W3 S45A1_HUMAN solute carrier family 45 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643) integral component of membrane (GO:0016021) symporter activity (GO:0015293) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTAAGAAGGTAAGTGCTCT 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON AL356072 HGNC:17939 Approved gene with protein product protein-coding gene DNB5 "deleted in neuroblastoma 5", "solute carrier family 45, member 1" "H+/sugar symporter" 1p36.23 2016-04-25 2005-10-04 2015-12-08 AF118274 ENSG00000162426 10729226 752 Solute carriers CCDS30577 OTTHUMG00000000503 605763 NM_001080397 Q9Y2W3 ENSG00000162426 uc001apb.3 Q5VY46|Q5VY49 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 50651 false 841SLC45A1 50651 __UNKNOWN__ hg19 1 8404093 8404093 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8404093C>T ENST00000471889.1 + 9 SLC45A1_ENST00000289877.8_3'UTR|SLC45A1_ENST00000377479.2_3'UTR Q9Y2W3 S45A1_HUMAN solute carrier family 45 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643) integral component of membrane (GO:0016021) symporter activity (GO:0015293) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCTCGACTCCGGACACGCGC 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL356072 HGNC:17939 Approved gene with protein product protein-coding gene DNB5 "deleted in neuroblastoma 5", "solute carrier family 45, member 1" "H+/sugar symporter" 1p36.23 2016-04-25 2005-10-04 2015-12-08 AF118274 ENSG00000162426 10729226 752 Solute carriers CCDS30577 OTTHUMG00000000503 605763 NM_001080397 Q9Y2W3 ENSG00000162426 uc001apb.3 Q5VY46|Q5VY49 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 50651 false 842RERE 473 __UNKNOWN__ hg19 1 8412935 8412935 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8412935C>T ENST00000337907.3 - 24 RERE_ENST00000377464.1_3'UTR NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCGGACGGCTTTCAAGCAC 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL357713 HGNC:9965 Approved gene with protein product protein-coding gene ATN1L "arginine-glutamic acid dipeptide (RE) repeats" KIAA0458, ARP, ARG, DNB1 1p36.23 2016-04-05 2016-04-05 AF016005 ENSG00000142599 10814707, 10729226 82|532 GATA zinc finger domain containing|Myb/SANT domain containing CCDS95, CCDS41243 OTTHUMG00000001765 605226 NM_001042681 Q9P2R6 ENSG00000142599 uc001ape.4 O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 473 false 843RERE 473 __UNKNOWN__ hg19 1 8412989 8412989 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8412989A>G ENST00000337907.3 - 24 RERE_ENST00000377464.1_3'UTR NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGGATGCCAAAGGAGGAGAT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL357713 HGNC:9965 Approved gene with protein product protein-coding gene ATN1L "arginine-glutamic acid dipeptide (RE) repeats" KIAA0458, ARP, ARG, DNB1 1p36.23 2016-04-05 2016-04-05 AF016005 ENSG00000142599 10814707, 10729226 82|532 GATA zinc finger domain containing|Myb/SANT domain containing CCDS95, CCDS41243 OTTHUMG00000001765 605226 NM_001042681 Q9P2R6 ENSG00000142599 uc001ape.4 O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 473 false 844RERE 473 __UNKNOWN__ hg19 1 8416160 8416160 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8416160C>T ENST00000337907.3 - 22 5121 c.4486G>A c.(4486-4488)Ggc>Agc p.G1496S RERE_ENST00000400908.2_Splice_Site_p.G1496S|RERE_ENST00000377464.1_Splice_Site_p.G1228S|RERE_ENST00000476556.1_Splice_Site_p.G942S|RERE_ENST00000400907.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTCTTACCGAAAACTGGG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AL357713 HGNC:9965 Approved gene with protein product protein-coding gene ATN1L "arginine-glutamic acid dipeptide (RE) repeats" KIAA0458, ARP, ARG, DNB1 1p36.23 2016-04-05 2016-04-05 AF016005 ENSG00000142599 10814707, 10729226 82|532 GATA zinc finger domain containing|Myb/SANT domain containing CCDS95, CCDS41243 OTTHUMG00000001765 605226 NM_001042681 Q9P2R6 ENSG00000142599 uc001ape.4 O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 473 false 845RERE 473 __UNKNOWN__ hg19 1 8420270 8420270 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8420270G>A ENST00000337907.3 - 19 3932 c.3297C>T c.(3295-3297)gaC>gaT p.D1099D RERE_ENST00000400908.2_Silent_p.D1099D|RERE_ENST00000377464.1_Silent_p.D831D|RERE_ENST00000476556.1_Silent_p.D545D|RERE_ENST00000400907.2_Intron NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAGCGTCGTCCAGAGCCT 0.6982543640897756 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL357713 HGNC:9965 Approved gene with protein product protein-coding gene ATN1L "arginine-glutamic acid dipeptide (RE) repeats" KIAA0458, ARP, ARG, DNB1 1p36.23 2016-04-05 2016-04-05 AF016005 ENSG00000142599 10814707, 10729226 82|532 GATA zinc finger domain containing|Myb/SANT domain containing CCDS95, CCDS41243 OTTHUMG00000001765 605226 NM_001042681 Q9P2R6 ENSG00000142599 uc001ape.4 O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 473 false 846RERE 473 __UNKNOWN__ hg19 1 8425900 8425900 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8425900T>C ENST00000337907.3 - 14 2054 c.1419A>G c.(1417-1419)acA>acG p.T473T RERE_ENST00000400908.2_Silent_p.T473T|RERE_ENST00000377464.1_Silent_p.T205T|RERE_ENST00000400907.2_Silent_p.T473T|RERE_ENST00000476556.1_5'UTR NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTGGAGGGTGTGTTGACGG 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL357713 HGNC:9965 Approved gene with protein product protein-coding gene ATN1L "arginine-glutamic acid dipeptide (RE) repeats" KIAA0458, ARP, ARG, DNB1 1p36.23 2016-04-05 2016-04-05 AF016005 ENSG00000142599 10814707, 10729226 82|532 GATA zinc finger domain containing|Myb/SANT domain containing CCDS95, CCDS41243 OTTHUMG00000001765 605226 NM_001042681 Q9P2R6 ENSG00000142599 uc001ape.4 O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 473 false 847RERE 473 __UNKNOWN__ hg19 1 8555123 8555123 + Splice_Site SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8555123T>G ENST00000337907.3 - 11 1739 c.1104A>C c.(1102-1104)acA>acC p.T368T RERE_ENST00000400908.2_Splice_Site_p.T368T|RERE_ENST00000377464.1_Splice_Site_p.T100T|RERE_ENST00000400907.2_Splice_Site_p.T368T NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGACTTACTGTGTTCAGTG 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL357713 HGNC:9965 Approved gene with protein product protein-coding gene ATN1L "arginine-glutamic acid dipeptide (RE) repeats" KIAA0458, ARP, ARG, DNB1 1p36.23 2016-04-05 2016-04-05 AF016005 ENSG00000142599 10814707, 10729226 82|532 GATA zinc finger domain containing|Myb/SANT domain containing CCDS95, CCDS41243 OTTHUMG00000001765 605226 NM_001042681 Q9P2R6 ENSG00000142599 uc001ape.4 O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 473 false 848RERE 473 __UNKNOWN__ hg19 1 8555123 8555123 + Splice_Site SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8555123T>G ENST00000337907.3 - 11 1739 c.1104A>C c.(1102-1104)acA>acC p.T368T RERE_ENST00000400908.2_Splice_Site_p.T368T|RERE_ENST00000377464.1_Splice_Site_p.T100T|RERE_ENST00000400907.2_Splice_Site_p.T368T NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351) histone deacetylase complex (GO:0000118)|nucleus (GO:0005634) chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGACTTACTGTGTTCAGTG 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT AL357713 HGNC:9965 Approved gene with protein product protein-coding gene ATN1L "arginine-glutamic acid dipeptide (RE) repeats" KIAA0458, ARP, ARG, DNB1 1p36.23 2016-04-05 2016-04-05 AF016005 ENSG00000142599 10814707, 10729226 82|532 GATA zinc finger domain containing|Myb/SANT domain containing CCDS95, CCDS41243 OTTHUMG00000001765 605226 NM_001042681 Q9P2R6 ENSG00000142599 uc001ape.4 O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 473 false 849ENO1 2023 __UNKNOWN__ hg19 1 8922983 8922983 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8922983G>A ENST00000234590.4 - 11 1318 c.1198C>T c.(1198-1200)Cga>Tga p.R400* NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(1)|pancreas(22)|thymus(14) 285 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCAGATCGGCAAGGGGCA 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Esophageal Squamous(21;302 608 19946 22210 33560) X84907 HGNC:3350 Approved gene with protein product protein-coding gene ENO1L1, MPB1 "enolase 1, (alpha)" PPH, MBP-1 "alpha-enolase" 1p36.23 2016-10-05 2016-04-05 BC022545 4.2.1.11 ENSG00000074800 9653645, 9691177 NM_001428 CCDS97 OTTHUMG00000001773 172430 NM_001201483 P06733 ENSG00000074800 uc001apj.3 B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2023 false 850ENO1 2023 __UNKNOWN__ hg19 1 8924042 8924042 + Silent SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:8924042T>G ENST00000234590.4 - 9 1095 c.975A>C c.(973-975)ccA>ccC p.P325P NM_001428.3 NP_001419.1 P06733 ENOA_HUMAN enolase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(1)|pancreas(22)|thymus(14) 285 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGATCCTCTTTGGGTTGGTCA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Esophageal Squamous(21;302 608 19946 22210 33560) X84907 HGNC:3350 Approved gene with protein product protein-coding gene ENO1L1, MPB1 "enolase 1, (alpha)" PPH, MBP-1 "alpha-enolase" 1p36.23 2016-10-05 2016-04-05 BC022545 4.2.1.11 ENSG00000074800 9653645, 9691177 NM_001428 CCDS97 OTTHUMG00000001773 172430 NM_001201483 P06733 ENSG00000074800 uc001apj.3 B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2023 false 851CA6 765 __UNKNOWN__ hg19 1 9030964 9030964 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9030964C>T ENST00000377436.3 + 7 768 c.768C>T c.(766-768)aaC>aaT p.N256N CA6_ENST00000377443.2_Silent_p.N256N|CA6_ENST00000377442.2_Silent_p.N196N|CA6_ENST00000476083.1_Intron NM_001270500.1 NP_001257429.1 P23280 CAH6_HUMAN carbonic anhydrase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Mafenide(DB06795)|Zonisamide(DB00909) ATCACCGCAACAAGACCATCC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M57892 HGNC:1380 Approved gene with protein product protein-coding gene "carbonic anhydrase VI" 1p36.23 2016-10-05 2016-03-18 M57892 4.2.1.1 ENSG00000131686 9691177 460 Carbonic anhydrases CCDS30578, CCDS57970, CCDS57971 OTTHUMG00000001763 114780 NM_001215 P23280 ENSG00000131686 uc001apm.5 E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 765 false 852CA6 765 __UNKNOWN__ hg19 1 9030964 9030964 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9030964C>T ENST00000377436.3 + 7 768 c.768C>T c.(766-768)aaC>aaT p.N256N CA6_ENST00000377443.2_Silent_p.N256N|CA6_ENST00000377442.2_Silent_p.N196N|CA6_ENST00000476083.1_Intron NM_001270500.1 NP_001257429.1 P23280 CAH6_HUMAN carbonic anhydrase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bicarbonate transport (GO:0015701)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Mafenide(DB06795)|Zonisamide(DB00909) ATCACCGCAACAAGACCATCC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M57892 HGNC:1380 Approved gene with protein product protein-coding gene "carbonic anhydrase VI" 1p36.23 2016-10-05 2016-03-18 M57892 4.2.1.1 ENSG00000131686 9691177 460 Carbonic anhydrases CCDS30578, CCDS57970, CCDS57971 OTTHUMG00000001763 114780 NM_001215 P23280 ENSG00000131686 uc001apm.5 E7EMQ1|Q5FBW3|Q5FC00|Q96QX8|Q9UF03 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 765 false 853SLC2A7 155184 __UNKNOWN__ hg19 1 9063578 9063578 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9063578C>T ENST00000400906.1 - c.e12+1G>A c.e12-1 NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGATGGCCTCCTAGACCAGGA 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471130 HGNC:13445 Approved gene with protein product protein-coding gene "solute carrier family 2 (facilitated glucose transporter), member 7" GLUT7 "intestinal facilitative glucose transporter 7" 1p36.23 2016-10-05 2016-02-17 AL356306 ENSG00000197241 11780753 NM_207420 752 Solute carriers CCDS98 OTTHUMG00000057499 610371 NM_207420 Q6PXP3 ENSG00000197241 uc009vmo.1 A2A333 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 155184 false 854SLC2A7 155184 __UNKNOWN__ hg19 1 9079267 9079267 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9079267C>T ENST00000400906.1 - c.e4-1G>A c.e4+1 NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCAGGTACCTGCACAGAC 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ INTRON CH471130 HGNC:13445 Approved gene with protein product protein-coding gene "solute carrier family 2 (facilitated glucose transporter), member 7" GLUT7 "intestinal facilitative glucose transporter 7" 1p36.23 2016-10-05 2016-02-17 AL356306 ENSG00000197241 11780753 NM_207420 752 Solute carriers CCDS98 OTTHUMG00000057499 610371 NM_207420 Q6PXP3 ENSG00000197241 uc009vmo.1 A2A333 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 155184 false 855SLC2A7 155184 __UNKNOWN__ hg19 1 9079319 9079319 + Nonsense_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9079319T>A ENST00000400906.1 - 4 385 c.385A>T c.(385-387)Aag>Tag p.K129* NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAAAAGCCTTGGCCACTTTG 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:13445 Approved gene with protein product protein-coding gene "solute carrier family 2 (facilitated glucose transporter), member 7" GLUT7 "intestinal facilitative glucose transporter 7" 1p36.23 2016-10-05 2016-02-17 AL356306 ENSG00000197241 11780753 NM_207420 752 Solute carriers CCDS98 OTTHUMG00000057499 610371 NM_207420 Q6PXP3 ENSG00000197241 uc009vmo.1 A2A333 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 155184 false 856SLC2A7 155184 __UNKNOWN__ hg19 1 9083101 9083101 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9083101G>A ENST00000400906.1 - 3 187 c.187C>T c.(187-189)Cga>Tga p.R63* NM_207420.2 NP_997303.2 Q6PXP3 GTR7_HUMAN solute carrier family 2 member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) substrate-specific transmembrane transporter activity (GO:0022891) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTGCGTGTCGCTCAAAGTAG 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:13445 Approved gene with protein product protein-coding gene "solute carrier family 2 (facilitated glucose transporter), member 7" GLUT7 "intestinal facilitative glucose transporter 7" 1p36.23 2016-10-05 2016-02-17 AL356306 ENSG00000197241 11780753 NM_207420 752 Solute carriers CCDS98 OTTHUMG00000057499 610371 NM_207420 Q6PXP3 ENSG00000197241 uc009vmo.1 A2A333 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 155184 false 857SLC2A5 6518 __UNKNOWN__ hg19 1 9095610 9095610 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9095610T>C ENST00000377424.4 - 12 NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCACCAGCCTCTGCCACCCA 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U11843 HGNC:11010 Approved gene with protein product protein-coding gene GLUT5 "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" 1p36.23 2016-10-05 2016-02-17 BC001820 ENSG00000142583 9691177 NM_003039 752 Solute carriers CCDS99, CCDS44054 OTTHUMG00000001771 138230 NM_001135585 P22732 ENSG00000142583 uc001apo.4 Q14770|Q5T977|Q8IVB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6518 false 858SLC2A5 6518 __UNKNOWN__ hg19 1 9097241 9097241 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9097241C>T ENST00000377424.4 - 12 SLC2A5_ENST00000536305.1_3'UTR NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGACCTGTCGGGGCCACCA 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U11843 HGNC:11010 Approved gene with protein product protein-coding gene GLUT5 "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" 1p36.23 2016-10-05 2016-02-17 BC001820 ENSG00000142583 9691177 NM_003039 752 Solute carriers CCDS99, CCDS44054 OTTHUMG00000001771 138230 NM_001135585 P22732 ENSG00000142583 uc001apo.4 Q14770|Q5T977|Q8IVB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6518 false 859SLC2A5 6518 __UNKNOWN__ hg19 1 9097251 9097251 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9097251A>G ENST00000377424.4 - 12 SLC2A5_ENST00000536305.1_3'UTR NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGGCCACCAAGTTAGTTTC 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U11843 HGNC:11010 Approved gene with protein product protein-coding gene GLUT5 "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" 1p36.23 2016-10-05 2016-02-17 BC001820 ENSG00000142583 9691177 NM_003039 752 Solute carriers CCDS99, CCDS44054 OTTHUMG00000001771 138230 NM_001135585 P22732 ENSG00000142583 uc001apo.4 Q14770|Q5T977|Q8IVB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6518 false 860SLC2A5 6518 __UNKNOWN__ hg19 1 9097696 9097696 + Nonsense_Mutation SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9097696G>C ENST00000377424.4 - 12 1635 c.1455C>G c.(1453-1455)taC>taG p.Y485* SLC2A5_ENST00000536305.1_Nonsense_Mutation_p.Y426*|SLC2A5_ENST00000535586.1_Nonsense_Mutation_p.Y370* NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTTTCCGGGTACACTTCAG 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U11843 HGNC:11010 Approved gene with protein product protein-coding gene GLUT5 "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" 1p36.23 2016-10-05 2016-02-17 BC001820 ENSG00000142583 9691177 NM_003039 752 Solute carriers CCDS99, CCDS44054 OTTHUMG00000001771 138230 NM_001135585 P22732 ENSG00000142583 uc001apo.4 Q14770|Q5T977|Q8IVB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6518 false 861SLC2A5 6518 __UNKNOWN__ hg19 1 9117596 9117596 + Silent SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9117596C>T ENST00000377424.4 - 3 384 c.204G>A c.(202-204)acG>acA p.T68T SLC2A5_ENST00000377414.3_Silent_p.T68T|SLC2A5_ENST00000535586.1_Intron NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCACAGCAACGTCAAGGGGA 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U11843 HGNC:11010 Approved gene with protein product protein-coding gene GLUT5 "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" 1p36.23 2016-10-05 2016-02-17 BC001820 ENSG00000142583 9691177 NM_003039 752 Solute carriers CCDS99, CCDS44054 OTTHUMG00000001771 138230 NM_001135585 P22732 ENSG00000142583 uc001apo.4 Q14770|Q5T977|Q8IVB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6518 false 862SLC2A5 6518 __UNKNOWN__ hg19 1 9118247 9118247 + Nonsense_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9118247A>C ENST00000377424.4 - 2 276 c.96T>G c.(94-96)taT>taG p.Y32* SLC2A5_ENST00000377414.3_Nonsense_Mutation_p.Y32*|SLC2A5_ENST00000535586.1_Intron NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTTGTACCCATACTGGAAGG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U11843 HGNC:11010 Approved gene with protein product protein-coding gene GLUT5 "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" 1p36.23 2016-10-05 2016-02-17 BC001820 ENSG00000142583 9691177 NM_003039 752 Solute carriers CCDS99, CCDS44054 OTTHUMG00000001771 138230 NM_001135585 P22732 ENSG00000142583 uc001apo.4 Q14770|Q5T977|Q8IVB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6518 false 863SLC2A5 6518 __UNKNOWN__ hg19 1 9129620 9129620 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9129620C>T ENST00000377424.4 - 1 SLC2A5_ENST00000377414.3_5'UTR|SLC2A5_ENST00000535586.1_5'Flank NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular response to fructose stimulus (GO:0071332)|fructose transport (GO:0015755)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fructose transmembrane transporter activity (GO:0005353)|glucose transmembrane transporter activity (GO:0005355) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCAGAGTGCCGCTCACCTCC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U11843 HGNC:11010 Approved gene with protein product protein-coding gene GLUT5 "solute carrier family 2 (facilitated glucose/fructose transporter), member 5" 1p36.23 2016-10-05 2016-02-17 BC001820 ENSG00000142583 9691177 NM_003039 752 Solute carriers CCDS99, CCDS44054 OTTHUMG00000001771 138230 NM_001135585 P22732 ENSG00000142583 uc001apo.4 Q14770|Q5T977|Q8IVB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6518 false 864GPR157 80045 __UNKNOWN__ hg19 1 9164133 9164133 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9164133G>A ENST00000377411.4 - 4 NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTCCCTCAGATTGTAAACA 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY768808 HGNC:23687 Approved gene with protein product protein-coding gene FLJ12132 1p36.22 2015-08-25 AK022194 ENSG00000180758 10574461 NM_024980 310 7TM orphan receptors CCDS100 OTTHUMG00000001758 NM_024980 Q5UAW9 ENSG00000180758 uc001apq.2 A2A334|Q8WWB8|Q9HA73 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80045 false 865GPR157 80045 __UNKNOWN__ hg19 1 9171336 9171336 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9171336G>A ENST00000377411.4 - 2 739 c.596C>T c.(595-597)gCg>gTg p.A199V GPR157_ENST00000414642.2_Splice_Site_p.A199V NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCGCCTACCGCTCTGTTGAT 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE AY768808 HGNC:23687 Approved gene with protein product protein-coding gene FLJ12132 1p36.22 2015-08-25 AK022194 ENSG00000180758 10574461 NM_024980 310 7TM orphan receptors CCDS100 OTTHUMG00000001758 NM_024980 Q5UAW9 ENSG00000180758 uc001apq.2 A2A334|Q8WWB8|Q9HA73 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80045 false 866RP3-510D11.2 __UNKNOWN__ hg19 1 9250991 9250991 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9250991C>T ENST00000412639.2 + c.e3-461C>T RP3-510D11.1_ENST00000437157.2_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCGATTGACAAGGCCTTTT 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 867RP3-510D11.1 __UNKNOWN__ hg19 1 9256200 9256200 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9256200G>A ENST00000437157.2 - c.e1-6438C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCCATGAGGGCTCCTGTCTG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 868H6PD 9563 __UNKNOWN__ hg19 1 9307033 9307033 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9307033G>A ENST00000377403.2 + 3 938 c.636G>A c.(634-636)gcG>gcA p.A212A H6PD_ENST00000602477.1_Silent_p.A223A NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) 6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(11)|lung(1)|pancreas(22) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCTGTGGCGCAGATCCTGC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98044 HGNC:4795 Approved gene with protein product protein-coding gene GDH "glucose dehyrogenase", "hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)" "GDH/6PGL endoplasmic bifunctional protein" 1p36.22 2016-10-05 2016-04-05 AJ012590 1.1.1.47 ENSG00000049239 10349511 NM_004285 CCDS101, CCDS72697 OTTHUMG00000001768 138090 NM_001282587 O95479 ENSG00000049239 uc001apt.4 Q4TT33|Q66I35|Q68DT3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9563 false 869H6PD 9563 __UNKNOWN__ hg19 1 9324385 9324385 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9324385G>A ENST00000377403.2 + 5 2135 c.1833G>A c.(1831-1833)tgG>tgA p.W611* H6PD_ENST00000602477.1_Nonsense_Mutation_p.W622*|H6PD_ENST00000495451.1_5'Flank NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) 6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(11)|lung(1)|pancreas(22) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTCCCCTGGGCCCACACGC 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98044 HGNC:4795 Approved gene with protein product protein-coding gene GDH "glucose dehyrogenase", "hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)" "GDH/6PGL endoplasmic bifunctional protein" 1p36.22 2016-10-05 2016-04-05 AJ012590 1.1.1.47 ENSG00000049239 10349511 NM_004285 CCDS101, CCDS72697 OTTHUMG00000001768 138090 NM_001282587 O95479 ENSG00000049239 uc001apt.4 Q4TT33|Q66I35|Q68DT3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9563 false 870H6PD 9563 __UNKNOWN__ hg19 1 9326132 9326132 + 3'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9326132A>C ENST00000377403.2 + 5 H6PD_ENST00000602477.1_3'UTR|H6PD_ENST00000495451.1_Intron NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) 6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(11)|lung(1)|pancreas(22) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCCAGTTAAATCACCCACT 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98044 HGNC:4795 Approved gene with protein product protein-coding gene GDH "glucose dehyrogenase", "hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)" "GDH/6PGL endoplasmic bifunctional protein" 1p36.22 2016-10-05 2016-04-05 AJ012590 1.1.1.47 ENSG00000049239 10349511 NM_004285 CCDS101, CCDS72697 OTTHUMG00000001768 138090 NM_001282587 O95479 ENSG00000049239 uc001apt.4 Q4TT33|Q66I35|Q68DT3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9563 false 871H6PD 9563 __UNKNOWN__ hg19 1 9327413 9327413 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9327413T>G ENST00000377403.2 + 5 H6PD_ENST00000602477.1_3'UTR|H6PD_ENST00000495451.1_Intron NM_004285.3 NP_004276.2 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305) endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739) 6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(11)|lung(1)|pancreas(22) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCCGGATTTCATTTCCCTC 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98044 HGNC:4795 Approved gene with protein product protein-coding gene GDH "glucose dehyrogenase", "hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)" "GDH/6PGL endoplasmic bifunctional protein" 1p36.22 2016-10-05 2016-04-05 AJ012590 1.1.1.47 ENSG00000049239 10349511 NM_004285 CCDS101, CCDS72697 OTTHUMG00000001768 138090 NM_001282587 O95479 ENSG00000049239 uc001apt.4 Q4TT33|Q66I35|Q68DT3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9563 false 872SPSB1 80176 __UNKNOWN__ hg19 1 9427508 9427508 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9427508C>T ENST00000328089.6 + 3 1037 c.696C>T c.(694-696)ccC>ccT p.P232P SPSB1_ENST00000357898.3_Splice_Site_p.P232P|SPSB1_ENST00000377399.2_Splice_Site_p.P232P NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCCCCAGCCGAGCCGCTGC 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471130 HGNC:30628 Approved gene with protein product protein-coding gene SSB-1 1p36.22 2014-11-19 ENSG00000171621 15713673, 12076535 NM_025106 CCDS102 OTTHUMG00000001279 611657 NM_025106 Q96BD6 ENSG00000171621 uc010oae.3 A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80176 false 873SPSB1 80176 __UNKNOWN__ hg19 1 9427508 9427508 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9427508C>T ENST00000328089.6 + 3 1037 c.696C>T c.(694-696)ccC>ccT p.P232P SPSB1_ENST00000357898.3_Splice_Site_p.P232P|SPSB1_ENST00000377399.2_Splice_Site_p.P232P NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCCCCAGCCGAGCCGCTGC 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471130 HGNC:30628 Approved gene with protein product protein-coding gene SSB-1 1p36.22 2014-11-19 ENSG00000171621 15713673, 12076535 NM_025106 CCDS102 OTTHUMG00000001279 611657 NM_025106 Q96BD6 ENSG00000171621 uc010oae.3 A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80176 false 874SPSB1 80176 __UNKNOWN__ hg19 1 9427869 9427869 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9427869G>A ENST00000328089.6 + 3 SPSB1_ENST00000357898.3_3'UTR NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATGCCGTCCGTATACAACCC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:30628 Approved gene with protein product protein-coding gene SSB-1 1p36.22 2014-11-19 ENSG00000171621 15713673, 12076535 NM_025106 CCDS102 OTTHUMG00000001279 611657 NM_025106 Q96BD6 ENSG00000171621 uc010oae.3 A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80176 false 875SPSB1 80176 __UNKNOWN__ hg19 1 9428520 9428520 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9428520G>A ENST00000328089.6 + 3 NM_025106.3 NP_079382.2 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTGTCTTCGGGGGCCCGTC 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:30628 Approved gene with protein product protein-coding gene SSB-1 1p36.22 2014-11-19 ENSG00000171621 15713673, 12076535 NM_025106 CCDS102 OTTHUMG00000001279 611657 NM_025106 Q96BD6 ENSG00000171621 uc010oae.3 A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80176 false 876RP13-392I16.1 __UNKNOWN__ hg19 1 9562830 9562830 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9562830G>A ENST00000441033.1 - c.e1-450C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCTACTTCGGGGCTGAGGC 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 877SLC25A33 84275 __UNKNOWN__ hg19 1 9640291 9640291 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9640291C>T ENST00000302692.6 + 6 972 c.762C>T c.(760-762)caC>caT p.H254H NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 member 33 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ transport (GO:0006810) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTATCCACACGGTATGTTTT 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC073135 HGNC:29681 Approved gene with protein product protein-coding gene "solute carrier family 25, member 33", "solute carrier family 25 (pyrimidine nucleotide carrier), member 33" MGC4399, BMSC-MCP, PNC1 1p36.22 2016-02-18 2016-02-18 AF495714 ENSG00000171612 14715278, 16949250 NM_032315 752 Solute carriers CCDS103 OTTHUMG00000001322 610816 NM_032315 Q9BSK2 ENSG00000171612 uc001apw.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84275 false 878SLC25A33 84275 __UNKNOWN__ hg19 1 9640291 9640291 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9640291C>T ENST00000302692.6 + 6 972 c.762C>T c.(760-762)caC>caT p.H254H NM_032315.2 NP_115691.1 Q9BSK2 S2533_HUMAN solute carrier family 25 member 33 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ transport (GO:0006810) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTATCCACACGGTATGTTTT 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC073135 HGNC:29681 Approved gene with protein product protein-coding gene "solute carrier family 25, member 33", "solute carrier family 25 (pyrimidine nucleotide carrier), member 33" MGC4399, BMSC-MCP, PNC1 1p36.22 2016-02-18 2016-02-18 AF495714 ENSG00000171612 14715278, 16949250 NM_032315 752 Solute carriers CCDS103 OTTHUMG00000001322 610816 NM_032315 Q9BSK2 ENSG00000171612 uc001apw.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84275 false 879C1orf200 __UNKNOWN__ hg19 1 9713386 9713386 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9713386C>T ENST00000377320.3 - 2 PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGATTTCAGCTGGACAACTG 0.5062344139650873 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 880C1orf200 __UNKNOWN__ hg19 1 9713899 9713899 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9713899G>A ENST00000377320.3 - 2 592 c.442C>T c.(442-444)Cag>Tag p.Q148* PIK3CD_ENST00000377346.4_Intron|PIK3CD_ENST00000536656.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGCTTCCTGGGCTTGGTCC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 881PIK3CD 5293 __UNKNOWN__ hg19 1 9784435 9784435 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9784435T>C ENST00000377346.4 + 22 3015 c.2820T>C c.(2818-2820)caT>caC p.H940H PIK3CD_ENST00000361110.2_Silent_p.H964H|PIK3CD_ENST00000536656.1_Silent_p.H964H NM_005026.3 NP_005017.3 O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852) cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(299)|kidney(112)|large_intestine(11)|lung(323)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(24)|stomach(135)|upper_aerodigestive_tract(121) 1402 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Caffeine(DB00201) ACTTTGTCCATGTGATTCAGC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y10055 HGNC:8977 Approved gene with protein product protein-coding gene "phosphoinositide-3-kinase, catalytic, delta polypeptide", "phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta" p110D "phosphatidylinositol 3-kinase, catalytic, delta polypeptide", "phosphoinositide-3-kinase C" 1p36.22 2017-03-24 2015-11-17 2.7.1.153 ENSG00000171608 9113989, 9455486 NM_005026 831 Phosphatidylinositol 3-kinase subunits CCDS104 OTTHUMG00000001450 602839 NM_005026 O00329 ENSG00000171608 uc001aqb.5 A6NCG0|G1FFP1|O15445|Q5SR49 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5293 false 882CLSTN1 22883 __UNKNOWN__ hg19 1 9811597 9811597 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9811597G>A ENST00000377298.4 - 5 1376 c.583C>T c.(583-585)Cag>Tag p.Q195* CLSTN1_ENST00000361311.4_Nonsense_Mutation_p.Q185*|CLSTN1_ENST00000377288.3_Nonsense_Mutation_p.Q195* NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988) biliary_tract(2)|breast(185)|central_nervous_system(44)|large_intestine(11)|lung(232)|ovary(58)|pancreas(30)|prostate(58) 620 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGAACTGAGGGGAGCAG 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC033902 HGNC:17447 Approved gene with protein product protein-coding gene CSTN1, KIAA0911, CDHR12 "cadherin-related family member 12" 1p36.22 2015-09-11 AB020718 ENSG00000171603 10048485 24 Cadherin related CCDS105, CCDS30580 OTTHUMG00000001451 611321 NM_001009566 O94985 ENSG00000171603 uc001aqi.4 A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22883 false 883CLSTN1 22883 __UNKNOWN__ hg19 1 9833451 9833451 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9833451A>G ENST00000377298.4 - 2 886 c.93T>C c.(91-93)gtT>gtC p.V31V CLSTN1_ENST00000361311.4_Splice_Site_p.V31V|CLSTN1_ENST00000377288.3_Splice_Site_p.V31V NM_001009566.1 NP_001009566.1 O94985 CSTN1_HUMAN calsyntenin 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156) cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211) beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988) biliary_tract(2)|breast(185)|central_nervous_system(44)|large_intestine(11)|lung(232)|ovary(58)|pancreas(30)|prostate(58) 620 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGCTTGTTAACTGTGTTTA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC033902 HGNC:17447 Approved gene with protein product protein-coding gene CSTN1, KIAA0911, CDHR12 "cadherin-related family member 12" 1p36.22 2015-09-11 AB020718 ENSG00000171603 10048485 24 Cadherin related CCDS105, CCDS30580 OTTHUMG00000001451 611321 NM_001009566 O94985 ENSG00000171603 uc001aqi.4 A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22883 false 884CTNNBIP1 56998 __UNKNOWN__ hg19 1 9909721 9909721 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9909721G>A ENST00000377263.1 - 6 CTNNBIP1_ENST00000537447.1_3'UTR|RP11-84A14.5_ENST00000454104.1_RNA NM_020248.2 NP_064633.1 Q9NSA3 CNBP1_HUMAN catenin beta interacting protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055) beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(2)|pancreas(22) 184 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAAAATGAGGCCTCAGGAAG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:16913 Approved gene with protein product protein-coding gene "catenin, beta-interacting protein 1", "catenin, beta interacting protein 1" ICAT, MGC15093 "beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4" 1p36.22 2015-11-19 2015-11-19 AB021262 ENSG00000178585 10898789 NM_020248 CCDS106 OTTHUMG00000001796 607758 NM_001012329 Q9NSA3 ENSG00000178585 uc001aqk.2 Q5T4V2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56998 false 885CTNNBIP1 56998 __UNKNOWN__ hg19 1 9931246 9931246 + Splice_Site SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9931246C>A ENST00000377263.1 - 5 498 c.186G>T c.(184-186)caG>caT p.Q62H CTNNBIP1_ENST00000400904.3_Splice_Site_p.Q62H|CTNNBIP1_ENST00000377258.1_Splice_Site_p.Q62H|CTNNBIP1_ENST00000377256.1_Splice_Site_p.Q62H|CTNNBIP1_ENST00000537447.1_Splice_Site_p.Q62H NM_020248.2 NP_064633.1 Q9NSA3 CNBP1_HUMAN catenin beta interacting protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055) beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(2)|pancreas(22) 184 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACTCACCCTGGTCGATGG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MISSENSE CH471130 HGNC:16913 Approved gene with protein product protein-coding gene "catenin, beta-interacting protein 1", "catenin, beta interacting protein 1" ICAT, MGC15093 "beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4" 1p36.22 2015-11-19 2015-11-19 AB021262 ENSG00000178585 10898789 NM_020248 CCDS106 OTTHUMG00000001796 607758 NM_001012329 Q9NSA3 ENSG00000178585 uc001aqk.2 Q5T4V2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56998 false 886CTNNBIP1 56998 __UNKNOWN__ hg19 1 9932027 9932027 + Splice_Site SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9932027G>A ENST00000377263.1 - 4 408 c.96C>T c.(94-96)aaC>aaT p.N32N CTNNBIP1_ENST00000400904.3_Splice_Site_p.N32N|CTNNBIP1_ENST00000377258.1_Splice_Site_p.N32N|CTNNBIP1_ENST00000377256.1_Splice_Site_p.N32N|CTNNBIP1_ENST00000537447.1_Splice_Site_p.N32N NM_020248.2 NP_064633.1 Q9NSA3 CNBP1_HUMAN catenin beta interacting protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055) beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(2)|pancreas(22) 184 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCACTCACGTTTGATCCCA 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT CH471130 HGNC:16913 Approved gene with protein product protein-coding gene "catenin, beta-interacting protein 1", "catenin, beta interacting protein 1" ICAT, MGC15093 "beta-catenin-interacting protein ICAT", "inhibitor of beta-catenin and Tcf-4" 1p36.22 2015-11-19 2015-11-19 AB021262 ENSG00000178585 10898789 NM_020248 CCDS106 OTTHUMG00000001796 607758 NM_001012329 Q9NSA3 ENSG00000178585 uc001aqk.2 Q5T4V2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56998 false 887LZIC 84328 __UNKNOWN__ hg19 1 9994823 9994823 + Frame_Shift_Del DEL T T - 866608629 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9994823delT ENST00000377223.1 - 5 582 c.333delA c.(331-333)gcafs p.E112fs LZIC_ENST00000377213.1_Frame_Shift_Del_p.E112fs|LZIC_ENST00000400903.2_Frame_Shift_Del_p.E112fs|LZIC_ENST00000541052.1_Frame_Shift_Del_p.E133fs Q8WZA0 LZIC_HUMAN leucine zipper and CTNNBIP1 domain containing __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ response to ionizing radiation (GO:0010212) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTTACCTCTGCTAACCTTG 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:17497 Approved gene with protein product protein-coding gene MGC15436 1p36.22 2014-11-18 AB060688 ENSG00000162441 11712074 NM_032368 CCDS107 OTTHUMG00000001804 610458 NM_001316973 Q8WZA0 ENSG00000162441 uc001aqo.4 B2R6F0|B4E2N0|Q96IU1 true false false false false false false LZIC:84328 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 147 rs866608629 84328 9994823 false 888LZIC 84328 __UNKNOWN__ hg19 1 9996684 9996684 + 5'UTR SNP C C T 199633051 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:9996684C>T ENST00000377223.1 - 3 LZIC_ENST00000377213.1_5'UTR|LZIC_ENST00000400903.2_5'UTR|LZIC_ENST00000541052.1_Splice_Site_p.E19E Q8WZA0 LZIC_HUMAN leucine zipper and CTNNBIP1 domain containing __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ response to ionizing radiation (GO:0010212) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATTTTAATCTCTATGTGAA 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:17497 Approved gene with protein product protein-coding gene MGC15436 1p36.22 2014-11-18 AB060688 ENSG00000162441 11712074 NM_032368 CCDS107 OTTHUMG00000001804 610458 NM_001316973 Q8WZA0 ENSG00000162441 uc001aqo.4 B2R6F0|B4E2N0|Q96IU1 true false false false false false false LZIC:84328 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true false false true SNV 0x050000400305040402000100 1 false 137 rs199633051 84328 9996684 true 889NMNAT1 64802 __UNKNOWN__ hg19 1 10042426 10042426 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10042426G>A ENST00000377205.1 + 5 651 c.507G>A c.(505-507)tgG>tgA p.W169* RP11-807G9.2_ENST00000413148.1_5'Flank NM_022787.3 NP_073624.2 Q9HAN9 NMNA1_HUMAN nicotinamide nucleotide adenylyltransferase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) nucleoplasm (GO:0005654)|nucleus (GO:0005634) ATP binding (GO:0005524)|nicotinamide-nucleotide adenylyltransferase activity (GO:0000309)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAATTTGTGGAAGAGTGAAG 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:17877 Approved gene with protein product protein-coding gene LCA9 "nicotinamide nucleotide adenylyltransferase", "Leber congenital amaurosis 9", "Leber's congenital amaurosis 9" NMNAT, PNAT1 1p36.22 2014-11-19 2003-05-02 2003-04-30 AF312734 2.7.7.1 ENSG00000173614 11248244, 11027696, 22842227 CCDS108, CCDS72698 OTTHUMG00000001799 608700 NM_001297778 Q9HAN9 ENSG00000173614 uc001aqp.3 B1AN63|Q8TAE9|Q9H247|Q9H6B6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64802 false 890KIF1B 23095 __UNKNOWN__ hg19 1 10438687 10438687 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10438687C>T ENST00000377081.1 + 48 KIF1B_ENST00000377086.1_3'UTR O60333 KIF1B_HUMAN kinesin family member 1B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192) cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|skin(2)|upper_aerodigestive_tract(120) 212 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCGCTTCACGCAGCAAAGG 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BT007174 HGNC:16636 Approved gene with protein product protein-coding gene CMT2A, CMT2 KIAA0591, KLP, HMSNII 1p36.22 2017-03-24 AF257176 ENSG00000054523 11389829, 10762626 682|622 Pleckstrin homology domain containing|Kinesins CCDS111, CCDS112 OTTHUMG00000001817 605995 NM_015074 O60333 ENSG00000054523 uc001aqw.5 A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23095 false 891PGD 5226 __UNKNOWN__ hg19 1 10478955 10478955 + Frame_Shift_Del DEL C C - 767877628 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10478955delC ENST00000270776.8 + 11 1219 c.1182delC c.(1180-1182)ttcfs p.F395fs PGD_ENST00000538557.1_Frame_Shift_Del_p.F382fs|PGD_ENST00000541529.1_Frame_Shift_Del_p.F373fs|PGD_ENST00000498356.1_Intron NM_002631.2 NP_002622.2 P52209 6PGD_HUMAN phosphogluconate dehydrogenase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|D-gluconate metabolic process (GO:0019521)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) NADP binding (GO:0050661)|phosphogluconate dehydrogenase (decarboxylating) activity (GO:0004616) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Dacarbazine(DB00851)|Furosemide(DB00695)|Gadopentetate dimeglumine(DB00789)|Ketotifen(DB00920)|Meloxicam(DB00814)|Methotrexate(DB00563)|Ritodrine(DB00867) TGGACGACTTCTTTAAGTCAG 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U30255 HGNC:8891 Approved gene with protein product protein-coding gene 1p36.22 2014-11-18 BC000368 1.1.1.43 ENSG00000142657 NM_002631 CCDS113 OTTHUMG00000001905 172200 NM_001304451 P52209 ENSG00000142657 uc001arc.4 A8K2Y9|B4DQJ8|Q9BWD8 true false false false false false false PGD:5226 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs767877628 5226 10478955 false 892APITD1 __UNKNOWN__ hg19 1 10489949 10489949 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10489949G>A ENST00000309048.3 + APITD1-CORT_ENST00000400900.2_5'Flank|APITD1-CORT_ENST00000470413.2_5'Flank|APITD1_ENST00000602296.1_5'Flank|APITD1_ENST00000602787.1_5'Flank|RP4-736L20.3_ENST00000607572.1_RNA|APITD1_ENST00000462462.1_5'Flank|APITD1-CORT_ENST00000465026.1_5'Flank NM_199294.2 NP_954988.1 Q8N2Z9 CENPS_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712) cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776) chromatin binding (GO:0003682)|DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTTTGATGGTCTCACTTC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029430 Q8NFE5|Q8NFG5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 893APITD1-CORT __UNKNOWN__ hg19 1 10494013 10494013 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10494013C>T ENST00000400900.2 + 2 582 c.166C>T c.(166-168)Cga>Tga p.R56* APITD1_ENST00000309048.3_Nonsense_Mutation_p.R56*|APITD1-CORT_ENST00000470413.2_Nonsense_Mutation_p.R56*|APITD1_ENST00000602787.1_Nonsense_Mutation_p.R56*|APITD1_ENST00000602296.1_Nonsense_Mutation_p.R56*|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|RP4-736L20.3_ENST00000607572.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGACTTTCCGACAGTGTGG 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 894APITD1 __UNKNOWN__ hg19 1 10502373 10502373 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10502373C>T ENST00000309048.3 + 5 403 c.328C>T c.(328-330)Cga>Tga p.R110* APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1_ENST00000462462.1_Intron|APITD1-CORT_ENST00000465026.1_Intron NM_199294.2 NP_954988.1 Q8N2Z9 CENPS_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712) cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776) chromatin binding (GO:0003682)|DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACCTAGAACGAAAAGCACA 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029430 Q8NFE5|Q8NFG5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 895APITD1 __UNKNOWN__ hg19 1 10502710 10502710 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10502710A>G ENST00000309048.3 + 5 APITD1-CORT_ENST00000400900.2_Intron|APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602787.1_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron NM_199294.2 NP_954988.1 Q8N2Z9 CENPS_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of protein ubiquitination (GO:0031398)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712) cytosol (GO:0005829)|FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|kinetochore (GO:0000776) chromatin binding (GO:0003682)|DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTGTGATCAAATGGTATAT 0.32169576059850374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029430 Q8NFE5|Q8NFG5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 896PEX14 5195 __UNKNOWN__ hg19 1 10596294 10596294 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:10596294C>T ENST00000356607.4 + 3 189 c.109C>T c.(109-111)Cag>Tag p.Q37* PEX14_ENST00000538836.1_Intron|PEX14_ENST00000492696.1_Intron NM_004565.2 NP_004556.1 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ microtubule anchoring (GO:0034453)|negative regulation of protein binding (GO:0032091)|negative regulation of protein homotetramerization (GO:1901094)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peroxisome organization (GO:0007031)|peroxisome transport along microtubule (GO:0036250)|protein complex assembly (GO:0006461)|protein homooligomerization (GO:0051260)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, substrate release (GO:0044721)|protein import into peroxisome matrix, translocation (GO:0016561) integral component of membrane (GO:0016021)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234) beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTTTCTACAGAATTCCCG 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR542083 HGNC:8856 Approved gene with protein product protein-coding gene 1p36.22 2014-11-18 AF045186 ENSG00000142655 9653144 957 Peroxins CCDS30582 OTTHUMG00000001908 601791 NM_004565 O75381 ENSG00000142655 uc001arn.5 B2R7N1|B3KML6|B7Z1N2|Q8WX51 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5195 false 897C1orf127 148345 __UNKNOWN__ hg19 1 11015136 11015136 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11015136G>A ENST00000377004.4 - 9 886 c.886C>T c.(886-888)Cga>Tga p.R296* C1orf127_ENST00000377008.4_Nonsense_Mutation_p.R129* NM_001170754.1 NP_001164225.1 Q8N9H9 CA127_HUMAN chromosome 1 open reading frame 127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGGACTCGGAGGAATCTG 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC143794 HGNC:26730 Approved gene with protein product protein-coding gene FLJ37118 1p36.22 2016-09-30 AK094437 ENSG00000175262 14702039 NM_173507 CCDS53267 OTTHUMG00000002032 NM_001170754 Q8N9H9 ENSG00000175262 uc010oao.2 A0AVG8|A6NKM7|Q5VXJ2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148345 false 898MASP2 10747 __UNKNOWN__ hg19 1 11087334 11087334 + Nonsense_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11087334C>A ENST00000400897.3 - 11 1685 c.1669G>T c.(1669-1671)Gaa>Taa p.E557* RP4-635E18.8_ENST00000607145.1_5'Flank NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan binding lectin serine peptidase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|stomach(47) 137 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTCAGCTTCTTTTCTTGGC 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(35;611 746 20780 22741 36496) Y18287 HGNC:6902 Approved gene with protein product protein-coding gene MASP1P1 "mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1" 1p36.22 2017-03-24 2016-03-08 X98400 ENSG00000009724 9087411, 9777418 NM_006610 1179 Sushi domain containing CCDS123, CCDS124 OTTHUMG00000002121 605102 NM_006610 O00187 ENSG00000009724 uc001aru.4 A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10747 false 899MASP2 10747 __UNKNOWN__ hg19 1 11097774 11097774 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11097774G>T ENST00000400897.3 - 7 1000 c.984C>A c.(982-984)tgC>tgA p.C328* NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan binding lectin serine peptidase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|stomach(47) 137 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCAGTCTCGCAAAAGATGG 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(35;611 746 20780 22741 36496) Y18287 HGNC:6902 Approved gene with protein product protein-coding gene MASP1P1 "mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1" 1p36.22 2017-03-24 2016-03-08 X98400 ENSG00000009724 9087411, 9777418 NM_006610 1179 Sushi domain containing CCDS123, CCDS124 OTTHUMG00000002121 605102 NM_006610 O00187 ENSG00000009724 uc001aru.4 A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10747 false 900MASP2 10747 __UNKNOWN__ hg19 1 11106783 11106783 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11106783G>T ENST00000400897.3 - 3 258 c.242C>A c.(241-243)tCg>tAg p.S81* MASP2_ENST00000400898.3_Nonsense_Mutation_p.S81* NM_006610.3 NP_006601.2 O00187 MASP2_HUMAN mannan binding lectin serine peptidase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062) calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|complement component C4b binding (GO:0001855)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|stomach(47) 137 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTGGCCCCCGAGCTCAGCTG 0.6433915211970075 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(35;611 746 20780 22741 36496) Y18287 HGNC:6902 Approved gene with protein product protein-coding gene MASP1P1 "mannan-binding lectin serine protease 2", "mannan-binding lectin serine peptidase 1 pseudogene 1", "mannan-binding lectin serine protease 1 pseudogene 1" 1p36.22 2017-03-24 2016-03-08 X98400 ENSG00000009724 9087411, 9777418 NM_006610 1179 Sushi domain containing CCDS123, CCDS124 OTTHUMG00000002121 605102 NM_006610 O00187 ENSG00000009724 uc001aru.4 A8K458|A8MWJ2|O75754|Q5TEQ5|Q5TER0|Q96QG4|Q9BZH0|Q9H498|Q9H499|Q9UBP3|Q9UC48|Q9ULC7|Q9UMV3|Q9Y270 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10747 false 901EXOSC10 5394 __UNKNOWN__ hg19 1 11128123 11128123 + Nonsense_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11128123T>A ENST00000376936.4 - 24 2619 c.2569A>T c.(2569-2571)Aaa>Taa p.K857* EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.K832*|EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_5'Flank NM_001001998.1 NP_001001998.1 Q01780 EXOSX_HUMAN exosome component 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327) 3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(1) 115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTTAATTTTTTTGGCTGCA 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Colon(179;105 1987 14326 27364 29542) X66113 HGNC:9138 Approved gene with protein product protein-coding gene PMSCL2 "polymyositis/scleroderma autoantigen 2, 100kDa" PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4 "polymyositis/scleroderma autoantigen 2 (100kD)" 1p36.22 2014-11-19 2004-06-18 2004-06-16 BC073788 ENSG00000171824 1383382, 1644924 NM_001001998 817 Exosome complex CCDS126, CCDS30584 OTTHUMG00000002123 605960 NM_001001998 Q01780 ENSG00000171824 uc001asb.4 B1AKQ0|B1AKQ1|Q15158 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5394 false 902EXOSC10 5394 __UNKNOWN__ hg19 1 11147637 11147637 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11147637G>T ENST00000376936.4 - 9 1007 c.957C>A c.(955-957)taC>taA p.Y319* EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.Y319*|EXOSC10_ENST00000544779.1_Nonsense_Mutation_p.Y319*|EXOSC10_ENST00000485606.1_5'Flank NM_001001998.1 NP_001001998.1 Q01780 EXOSX_HUMAN exosome component 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503) cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327) 3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(1) 115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGCTCCTGTAAGAGTGGT 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Colon(179;105 1987 14326 27364 29542) X66113 HGNC:9138 Approved gene with protein product protein-coding gene PMSCL2 "polymyositis/scleroderma autoantigen 2, 100kDa" PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4 "polymyositis/scleroderma autoantigen 2 (100kD)" 1p36.22 2014-11-19 2004-06-18 2004-06-16 BC073788 ENSG00000171824 1383382, 1644924 NM_001001998 817 Exosome complex CCDS126, CCDS30584 OTTHUMG00000002123 605960 NM_001001998 Q01780 ENSG00000171824 uc001asb.4 B1AKQ0|B1AKQ1|Q15158 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5394 false 903ANGPTL7 10218 __UNKNOWN__ hg19 1 11253688 11253688 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11253688C>T ENST00000376819.3 + 3 768 c.529C>T c.(529-531)Cga>Tga p.R177* MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_Intron NM_021146.3 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin like 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ response to oxidative stress (GO:0006979) extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCCAGAGACGAAAAAGTGG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y16132 HGNC:24078 Approved gene with protein product protein-coding gene "angiopoietin-like 7" CDT6, AngX 1p36.22 2016-10-05 2015-11-11 Y16132 ENSG00000171819 9727400, 11682471 NM_021146 554|905 Fibrinogen C domain containing|Angiopoietin like CCDS128 OTTHUMG00000002002 NM_021146 O43827 ENSG00000171819 uc001ase.5 B2R9B2|F1T0A6|Q4ZGK4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10218 false 904ANGPTL7 10218 __UNKNOWN__ hg19 1 11253722 11253722 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11253722G>A ENST00000376819.3 + 3 802 c.563G>A c.(562-564)tGg>tAg p.W188* MTOR_ENST00000361445.4_Intron|ANGPTL7_ENST00000476934.1_Intron NM_021146.3 NP_066969.1 O43827 ANGL7_HUMAN angiopoietin like 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ response to oxidative stress (GO:0006979) extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACCGGGACTGGAAGCAGTAC 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y16132 HGNC:24078 Approved gene with protein product protein-coding gene "angiopoietin-like 7" CDT6, AngX 1p36.22 2016-10-05 2015-11-11 Y16132 ENSG00000171819 9727400, 11682471 NM_021146 554|905 Fibrinogen C domain containing|Angiopoietin like CCDS128 OTTHUMG00000002002 NM_021146 O43827 ENSG00000171819 uc001ase.5 B2R9B2|F1T0A6|Q4ZGK4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10218 false 905UBIAD1 29914 __UNKNOWN__ hg19 1 11346336 11346336 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11346336A>G ENST00000376810.5 + 2 UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGTTCTTAAAGATAATATG 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:30791 Approved gene with protein product protein-coding gene SCCD "Schnyder crystalline corneal dystrophy" TERE1 "transitional epithelia response protein" 1p36.22 2014-11-19 ENSG00000120942 20953171, 12497587, 11314041, 17668063, 17962451, 8894705 NM_013319 CCDS129, CCDS81260 OTTHUMG00000002075 611632 NM_013319 Q9Y5Z9 ENSG00000120942 uc001asg.4 B3KQG3|Q53GX3|Q5THD4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 29914 false 906UBIAD1 29914 __UNKNOWN__ hg19 1 11347092 11347092 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11347092T>C ENST00000376810.5 + 2 UBIAD1_ENST00000376804.2_Intron NM_013319.2 NP_037451.1 Q9Y5Z9 UBIA1_HUMAN UbiA prenyltransferase domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ menaquinone biosynthetic process (GO:0009234)|ubiquinone biosynthetic process (GO:0006744)|vitamin K biosynthetic process (GO:0042371) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634) antioxidant activity (GO:0016209)|prenyltransferase activity (GO:0004659) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCCACACCTACCCTCCACC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:30791 Approved gene with protein product protein-coding gene SCCD "Schnyder crystalline corneal dystrophy" TERE1 "transitional epithelia response protein" 1p36.22 2014-11-19 ENSG00000120942 20953171, 12497587, 11314041, 17668063, 17962451, 8894705 NM_013319 CCDS129, CCDS81260 OTTHUMG00000002075 611632 NM_013319 Q9Y5Z9 ENSG00000120942 uc001asg.4 B3KQG3|Q53GX3|Q5THD4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 29914 false 907FBXO44 93611 __UNKNOWN__ hg19 1 11721854 11721854 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11721854C>T ENST00000251547.5 + 6 FBXO44_ENST00000251546.4_3'UTR|FBXO44_ENST00000376762.4_3'UTR|FBXO44_ENST00000376770.1_3'UTR|FBXO6_ENST00000376753.4_5'Flank NM_033182.5 NP_149438.2 Q9H4M3 FBX44_HUMAN F-box protein 44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SCF ubiquitin ligase complex (GO:0019005) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCCAGTCTCTCGCTCTGCC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749368 HGNC:24847 Approved gene with protein product protein-coding gene FBX30, FBG3, MGC14140, Fbxo6a, Fbx44 1p36.22 2016-10-05 AY040878 ENSG00000132879 12383498 NM_183412 560 F-boxes other CCDS131, CCDS132, CCDS81261 OTTHUMG00000002071 609111 NM_001014765 Q9H4M3 ENSG00000132879 uc001asl.3 B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 93611 false 908DRAXIN 374946 __UNKNOWN__ hg19 1 11783484 11783484 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11783484T>G ENST00000294485.5 + 7 NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTTCCATCTGTAGCAGTGT 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC111064 HGNC:25054 Approved gene with protein product protein-coding gene C1orf187 "chromosome 1 open reading frame 187" FLJ34999, Draxin, Neucrin "dorsal repulsive axon guidance protein", "neural tissue-specific cysteine-rich protein" 1p36.22 2014-11-19 2012-08-14 2012-08-14 AY358750 ENSG00000162490 19150847 NM_198545 CCDS135 OTTHUMG00000002227 612682 NM_198545 Q8NBI3 ENSG00000162490 uc001ass.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 374946 false 909AGTRAP 57085 __UNKNOWN__ hg19 1 11810151 11810151 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11810151C>T ENST00000314340.5 + 5 436 c.382C>T c.(382-384)Cag>Tag p.Q128* AGTRAP_ENST00000376629.4_Nonsense_Mutation_p.Q121*|AGTRAP_ENST00000376637.3_Missense_Mutation_p.S109L|AGTRAP_ENST00000452018.2_Missense_Mutation_p.S153L|AGTRAP_ENST00000510878.1_Silent_p.L92L|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000491346.1_Intron NM_020350.4 NP_065083.3 Q6RW13 ATRAP_HUMAN angiotensin II receptor associated protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666) cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) angiotensin type II receptor activity (GO:0004945) AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)|AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(11)|pancreas(22)|skin(31)|soft_tissue(22)|stomach(1) 161 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTCTTCTCAGGACCGTAG 0.5885286783042394 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:13539 Approved gene with protein product protein-coding gene ATRAP 1p36.22 2016-01-12 2016-01-12 AF165187 ENSG00000177674 11733189 NM_020350 CCDS136, CCDS30585, CCDS30586, CCDS41248, CCDS44056 OTTHUMG00000002230 608729 NM_001040194 Q6RW13 ENSG00000177674 uc001asv.4 A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57085 false 910AGTRAP 57085 __UNKNOWN__ hg19 1 11810505 11810505 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11810505C>T ENST00000314340.5 + 5 AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000510878.1_3'UTR|AGTRAP_ENST00000491346.1_Intron NM_020350.4 NP_065083.3 Q6RW13 ATRAP_HUMAN angiotensin II receptor associated protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666) cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) angiotensin type II receptor activity (GO:0004945) AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)|AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(11)|pancreas(22)|skin(31)|soft_tissue(22)|stomach(1) 161 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTCTTTACCTCCTACCCCA 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:13539 Approved gene with protein product protein-coding gene ATRAP 1p36.22 2016-01-12 2016-01-12 AF165187 ENSG00000177674 11733189 NM_020350 CCDS136, CCDS30585, CCDS30586, CCDS41248, CCDS44056 OTTHUMG00000002230 608729 NM_001040194 Q6RW13 ENSG00000177674 uc001asv.4 A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57085 false 911AGTRAP 57085 __UNKNOWN__ hg19 1 11810674 11810674 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11810674G>A ENST00000314340.5 + 5 AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000510878.1_3'UTR NM_020350.4 NP_065083.3 Q6RW13 ATRAP_HUMAN angiotensin II receptor associated protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666) cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) angiotensin type II receptor activity (GO:0004945) AGTRAP{ENST00000314340}:r.1_528_BRAF{ENST00000288602}:r.1201_2480(1)|AGTRAP{ENST00000314340}:r.1_534_BRAF{ENST00000288602}:r.1201_2480(1) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(11)|pancreas(22)|skin(31)|soft_tissue(22)|stomach(1) 161 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCAGTCTGGCATGGGAGTG 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:13539 Approved gene with protein product protein-coding gene ATRAP 1p36.22 2016-01-12 2016-01-12 AF165187 ENSG00000177674 11733189 NM_020350 CCDS136, CCDS30585, CCDS30586, CCDS41248, CCDS44056 OTTHUMG00000002230 608729 NM_001040194 Q6RW13 ENSG00000177674 uc001asv.4 A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57085 false 912MTHFR 4524 __UNKNOWN__ hg19 1 11846252 11846252 + 3'UTR SNP G G A 4846048 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11846252G>A ENST00000376592.1 - 11 C1orf167_ENST00000433342.1_Intron|MTHFR_ENST00000376583.3_3'UTR P42898 MTHR_HUMAN methylenetetrahydrofolate reductase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|neuron projection (GO:0043005) flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(22)|pancreas(22)|skin(31)|soft_tissue(41) 190 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116) ACACCAACAAGTGGTGATAAG 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U09806 HGNC:7436 Approved gene with protein product protein-coding gene "5,10-methylenetetrahydrofolate reductase (NADPH)", "methylenetetrahydrofolate reductase (NAD(P)H)" 1p36.22 2017-03-24 2016-08-10 BC053509 1.5.1.20 ENSG00000177000 7920641 NM_005957 CCDS137, CCDS81262 OTTHUMG00000002277 607093 NM_005957 P42898 ENSG00000177000 uc001atc.3 B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2 true false 0.2935,0.7065 false false 1 false true true MTHFR:4524|C1orf167:284498 true true true true true false false false false false false false false false false true true true false false false false 0 true 0 false 0.359949,0.640051 false true false SNV 0x0501288c000517053f000100 1 false 111 rs4846048 4524 11846252 true 913MTHFR 4524 __UNKNOWN__ hg19 1 11855351 11855351 + Nonsense_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11855351C>A ENST00000376585.1 - 7 2010 c.958G>T c.(958-960)Gag>Tag p.E320* MTHFR_ENST00000376592.1_Nonsense_Mutation_p.E279*|MTHFR_ENST00000376590.3_Nonsense_Mutation_p.E279*|MTHFR_ENST00000376583.3_Nonsense_Mutation_p.E320* P42898 MTHR_HUMAN methylenetetrahydrofolate reductase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|neuron projection (GO:0043005) flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(22)|pancreas(22)|skin(31)|soft_tissue(41) 190 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116) TCCTTGATCTCCTGTGGCACC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U09806 HGNC:7436 Approved gene with protein product protein-coding gene "5,10-methylenetetrahydrofolate reductase (NADPH)", "methylenetetrahydrofolate reductase (NAD(P)H)" 1p36.22 2017-03-24 2016-08-10 BC053509 1.5.1.20 ENSG00000177000 7920641 NM_005957 CCDS137, CCDS81262 OTTHUMG00000002277 607093 NM_005957 P42898 ENSG00000177000 uc001atc.3 B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4524 false 914CLCN6 1185 __UNKNOWN__ hg19 1 11894624 11894624 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11894624G>A ENST00000346436.6 + 17 1822 c.1770G>A c.(1768-1770)tgG>tgA p.W590* CLCN6_ENST00000376496.3_Nonsense_Mutation_p.W590*|CLCN6_ENST00000376487.3_Nonsense_Mutation_p.W568*|CLCN6_ENST00000312413.6_3'UTR NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride voltage-gated channel 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247) CLCN6{ENST00000346436}:r.1_199_BRAF{ENST00000288602}:r.1376_2480(2) biliary_tract(2)|breast(11)|central_nervous_system(140)|large_intestine(11)|lung(1)|pancreas(22) 187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTGGAATGGGAGACAGAGG 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X99475 HGNC:2024 Approved gene with protein product protein-coding gene "chloride channel 6", "chloride channel, voltage-sensitive 6" CLC-6, KIAA0046, ClC-6 1p36.22 2016-02-04 2016-02-04 X83378 ENSG00000011021 8543009 NM_001286 302 Chloride voltage-gated channels CCDS138, CCDS57972 OTTHUMG00000002299 602726 NM_001256959 P51797 ENSG00000011021 uc001ate.6 A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1185 false 915CLCN6 1185 __UNKNOWN__ hg19 1 11901592 11901592 + 3'UTR SNP T T C 198415 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11901592T>C ENST00000346436.6 + 23 CLCN6_ENST00000312413.6_3'UTR|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_5'Flank NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride voltage-gated channel 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085) endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765) antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247) CLCN6{ENST00000346436}:r.1_199_BRAF{ENST00000288602}:r.1376_2480(2) biliary_tract(2)|breast(11)|central_nervous_system(140)|large_intestine(11)|lung(1)|pancreas(22) 187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACATGGTATTAGTCCCAGCA 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X99475 HGNC:2024 Approved gene with protein product protein-coding gene "chloride channel 6", "chloride channel, voltage-sensitive 6" CLC-6, KIAA0046, ClC-6 1p36.22 2016-02-04 2016-02-04 X83378 ENSG00000011021 8543009 NM_001286 302 Chloride voltage-gated channels CCDS138, CCDS57972 OTTHUMG00000002299 602726 NM_001256959 P51797 ENSG00000011021 uc001ate.6 A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429 true false 0.8381,0.1619 false false 1 false true false CLCN6:1185|NPPA-AS1:100379251 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.760286,0.239714 false true false SNV 0x05010088000515053f000100 1 false 79 rs198415 1185 11901592 true 916NPPA 4878 __UNKNOWN__ hg19 1 11906068 11906068 + Nonstop_Mutation SNP A A G 5065 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11906068A>G ENST00000376480.3 - 3 553 c.454T>C c.(454-456)Tga>Cga p.*152R NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA NM_006172.3 NP_006163.1 P01160 ANF_HUMAN natriuretic peptide A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367) extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTATCTTCAGTACTGCAAA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X02558 HGNC:7939 Approved gene with protein product protein-coding gene ANP, PND "natriuretic peptide precursor A" 1p36.22 2017-03-24 2010-11-09 BC005893 ENSG00000175206 NM_006172 542 Endogenous ligands CCDS139 OTTHUMG00000002388 108780 NM_006172 P01160 ENSG00000175206 uc001ati.4 Q13766|Q5JZE1 true false 0.8209,0.1791 false false 1 false true false NPPA:4878|NPPA-AS1:100379251 true true true true true false false false false false false false false false false true true false false true false false 0 true 0 false 0.737688,0.262312 true false false SNV 0x05013808020515053f000100 1 false 52 rs5065 4878 11906068 true 917NPPA 4878 __UNKNOWN__ hg19 1 11906068 11906068 + Nonstop_Mutation SNP A A G 5065 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:11906068A>G ENST00000376480.3 - 3 553 c.454T>C c.(454-456)Tga>Cga p.*152R NPPA_ENST00000376476.1_Nonstop_Mutation_p.*102R|NPPA-AS1_ENST00000446542.1_RNA|NPPA-AS1_ENST00000400892.2_RNA NM_006172.3 NP_006163.1 P01160 ANF_HUMAN natriuretic peptide A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to mechanical stimulus (GO:0071260)|cGMP biosynthetic process (GO:0006182)|female pregnancy (GO:0007565)|gene expression (GO:0010467)|negative regulation of cell growth (GO:0030308)|negative regulation of systemic arterial blood pressure (GO:0003085)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|transcription initiation from RNA polymerase II promoter (GO:0006367) extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTATCTTCAGTACTGCAAA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X02558 HGNC:7939 Approved gene with protein product protein-coding gene ANP, PND "natriuretic peptide precursor A" 1p36.22 2017-03-24 2010-11-09 BC005893 ENSG00000175206 NM_006172 542 Endogenous ligands CCDS139 OTTHUMG00000002388 108780 NM_006172 P01160 ENSG00000175206 uc001ati.4 Q13766|Q5JZE1 true false 0.8209,0.1791 false false 1 false true false NPPA:4878|NPPA-AS1:100379251 true true true true true false false false false false false false false false false true true false false true false false 0 true 0 false 0.737688,0.262312 true false false SNV 0x05013808020515053f000100 1 false 52 rs5065 4878 11906068 true 918PLOD1 5351 __UNKNOWN__ hg19 1 12025599 12025599 + Nonsense_Mutation SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12025599C>G ENST00000196061.4 + 14 1560 c.1533C>G c.(1531-1533)taC>taG p.Y511* PLOD1_ENST00000376369.3_Nonsense_Mutation_p.Y558* NM_000302.3 NP_000293.2 Q02809 PLOD1_HUMAN procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|extracellular matrix organization (GO:0030198)|hydroxylysine biosynthetic process (GO:0046947)|oxidation-reduction process (GO:0055114)|response to hypoxia (GO:0001666) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062) iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-lysine 5-dioxygenase activity (GO:0008475)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(88)|large_intestine(37)|lung(1)|pancreas(22) 242 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Succinic acid(DB00139)|Vitamin C(DB00126) TAGACAGCTACCGCACCACCC 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L06419 HGNC:9081 Approved gene with protein product protein-coding gene LLH, PLOD "procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase (lysine hydroxylase, Ehlers-Danlos syndrome type VI)" LH1 "lysyl hydroxlase 1" 1p36.22 2016-04-06 2004-12-14 2016-04-06 BC016657 1.14.11.4 ENSG00000083444 1577494 NM_000302 CCDS142 OTTHUMG00000002393 153454 NM_000302 Q02809 ENSG00000083444 uc001atm.4 B4DR87|Q96AV9|Q9H132 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5351 false 919MFN2 9927 __UNKNOWN__ hg19 1 12069757 12069760 + Frame_Shift_Del DEL ACTT ACTT - 772270096 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12069757_12069760delACTT ENST00000235329.5 + 18 2499_2502 c.2178_2181delACTT c.(2176-2181)tcacttfs p.L727fs MFN2_ENST00000444836.1_Frame_Shift_Del_p.L727fs NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTTGACTCACTTCAGAGCAAAG 0.5693069306930693 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D86987 HGNC:16877 Approved gene with protein product protein-coding gene CPRP1, KIAA0214, MARF, CMT2A2 1p36.22 2017-03-24 AF036536 ENSG00000116688 12499352, 11181170 NM_014874 CCDS30587 OTTHUMG00000002392 608507 NM_001127660 O95140 ENSG00000116688 uc009vni.4 A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8 true false false false false false false MFN2:9927 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs772270096 9927 12069757 false 920MIIP 60672 __UNKNOWN__ hg19 1 12082195 12082195 + Nonsense_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12082195C>A ENST00000235332.4 + 3 327 c.158C>A c.(157-159)tCg>tAg p.S53* MIIP_ENST00000436478.2_Nonsense_Mutation_p.S53*|MIIP_ENST00000466860.1_5'Flank NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGACTCCATCGACCCCAGAG 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FJ618905 HGNC:25715 Approved gene with protein product protein-coding gene FLJ12438, IIp45 "invasion inhibitory protein 45" 1p36.22 2014-11-19 AK022500 ENSG00000116691 15867349, 14617774 NM_021933 CCDS143 OTTHUMG00000002439 608772 NM_021933 Q5JXC2 ENSG00000116691 uc001ato.3 C0KL22|Q96HU6|Q9H839|Q9HA00 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 60672 false 921MIIP 60672 __UNKNOWN__ hg19 1 12090140 12090140 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12090140C>T ENST00000235332.4 + 8 1070 c.901C>T c.(901-903)Cga>Tga p.R301* MIIP_ENST00000436478.2_Intron|MIIP_ENST00000466860.1_Intron NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCCACCGGCGAAAGAGCTT 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FJ618905 HGNC:25715 Approved gene with protein product protein-coding gene FLJ12438, IIp45 "invasion inhibitory protein 45" 1p36.22 2014-11-19 AK022500 ENSG00000116691 15867349, 14617774 NM_021933 CCDS143 OTTHUMG00000002439 608772 NM_021933 Q5JXC2 ENSG00000116691 uc001ato.3 C0KL22|Q96HU6|Q9H839|Q9HA00 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 60672 false 922VPS13D 55187 __UNKNOWN__ hg19 1 12318010 12318010 + Nonsense_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12318010T>G ENST00000358136.3 + 10 1090 c.960T>G c.(958-960)taT>taG p.Y320* VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Y320* NM_015378.2 NP_056193.2 vacuolar protein sorting 13 homolog D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|oesophagus(5)|pancreas(22) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATGGTGGTATTTTGCTTTGA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX784396 HGNC:23595 Approved gene with protein product protein-coding gene "vacuolar protein sorting 13D (yeast)", "vacuolar protein sorting 13 homolog D (S. cerevisiae)" FLJ10619, KIAA0453 1p36.22-p36.21 2017-06-08 2016-04-05 AJ608774 ENSG00000048707 NM_015378 CCDS30588, CCDS30589 OTTHUMG00000013155 608877 NM_015378 Q5THJ4 ENSG00000048707 uc031tou.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55187 false 923VPS13D 55187 __UNKNOWN__ hg19 1 12336193 12336193 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12336193G>T ENST00000358136.3 + 19 2678 c.2548G>T c.(2548-2550)Gag>Tag p.E850* VPS13D_ENST00000356315.4_Nonsense_Mutation_p.E850* NM_015378.2 NP_056193.2 vacuolar protein sorting 13 homolog D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|oesophagus(5)|pancreas(22) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATGTGGTAGAGAAGTTCAA 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX784396 HGNC:23595 Approved gene with protein product protein-coding gene "vacuolar protein sorting 13D (yeast)", "vacuolar protein sorting 13 homolog D (S. cerevisiae)" FLJ10619, KIAA0453 1p36.22-p36.21 2017-06-08 2016-04-05 AJ608774 ENSG00000048707 NM_015378 CCDS30588, CCDS30589 OTTHUMG00000013155 608877 NM_015378 Q5THJ4 ENSG00000048707 uc031tou.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55187 false 924VPS13D 55187 __UNKNOWN__ hg19 1 12446382 12446382 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12446382C>T ENST00000358136.3 + 60 11753 c.11623C>T c.(11623-11625)Cag>Tag p.Q3875* VPS13D_ENST00000356315.4_Nonsense_Mutation_p.Q3850*|VPS13D_ENST00000496628.1_Intron NM_015378.2 NP_056193.2 vacuolar protein sorting 13 homolog D __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|oesophagus(5)|pancreas(22) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCAGCATACAGGATGTACA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX784396 HGNC:23595 Approved gene with protein product protein-coding gene "vacuolar protein sorting 13D (yeast)", "vacuolar protein sorting 13 homolog D (S. cerevisiae)" FLJ10619, KIAA0453 1p36.22-p36.21 2017-06-08 2016-04-05 AJ608774 ENSG00000048707 NM_015378 CCDS30588, CCDS30589 OTTHUMG00000013155 608877 NM_015378 Q5THJ4 ENSG00000048707 uc031tou.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55187 false 925DHRS3 9249 __UNKNOWN__ hg19 1 12627990 12627990 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12627990T>C ENST00000376223.2 - 6 NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622) electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(2) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Vitamin A(DB00162) AACCAGTTTGTGCAAGCTGAG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ426869 HGNC:17693 Approved gene with protein product protein-coding gene "dehydrogenase/reductase (SDR family) member 3" retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 "short chain dehydrogenase/reductase family 16C, member 1" 1p36.21 2016-10-05 2016-05-27 AF061741 1.1.1.300 ENSG00000162496 9705317, 12226107, 19027726 NM_004753 743 Short chain dehydrogenase/reductase superfamily CCDS146 OTTHUMG00000001885 612830 NM_001319225 O75911 ENSG00000162496 uc031tpa.2 B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9249 false 926DHRS3 9249 __UNKNOWN__ hg19 1 12628067 12628067 + 3'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12628067A>C ENST00000376223.2 - 6 NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622) electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(2) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Vitamin A(DB00162) TGGTCTATGCACACTGCTGAG 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ426869 HGNC:17693 Approved gene with protein product protein-coding gene "dehydrogenase/reductase (SDR family) member 3" retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 "short chain dehydrogenase/reductase family 16C, member 1" 1p36.21 2016-10-05 2016-05-27 AF061741 1.1.1.300 ENSG00000162496 9705317, 12226107, 19027726 NM_004753 743 Short chain dehydrogenase/reductase superfamily CCDS146 OTTHUMG00000001885 612830 NM_001319225 O75911 ENSG00000162496 uc031tpa.2 B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9249 false 927DHRS3 9249 __UNKNOWN__ hg19 1 12628188 12628188 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12628188T>C ENST00000376223.2 - 6 NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622) electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(2) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Vitamin A(DB00162) GGGTCAGTTATACCCATCAGT 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ426869 HGNC:17693 Approved gene with protein product protein-coding gene "dehydrogenase/reductase (SDR family) member 3" retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 "short chain dehydrogenase/reductase family 16C, member 1" 1p36.21 2016-10-05 2016-05-27 AF061741 1.1.1.300 ENSG00000162496 9705317, 12226107, 19027726 NM_004753 743 Short chain dehydrogenase/reductase superfamily CCDS146 OTTHUMG00000001885 612830 NM_001319225 O75911 ENSG00000162496 uc031tpa.2 B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9249 false 928DHRS3 9249 __UNKNOWN__ hg19 1 12677525 12677525 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12677525G>A ENST00000376223.2 - 1 DHRS3_ENST00000482265.1_5'Flank NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601) integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622) electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(2) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Vitamin A(DB00162) GTGAGAAAAAGAAAAAAAAAA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ426869 HGNC:17693 Approved gene with protein product protein-coding gene "dehydrogenase/reductase (SDR family) member 3" retSDR1, Rsdr1, SDR1, RDH17, SDR16C1 "short chain dehydrogenase/reductase family 16C, member 1" 1p36.21 2016-10-05 2016-05-27 AF061741 1.1.1.300 ENSG00000162496 9705317, 12226107, 19027726 NM_004753 743 Short chain dehydrogenase/reductase superfamily CCDS146 OTTHUMG00000001885 612830 NM_001319225 O75911 ENSG00000162496 uc031tpa.2 B2R7F3|Q5VUY3|Q6UY38|Q9BUC8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9249 false 929AADACL4 343066 __UNKNOWN__ hg19 1 12726174 12726174 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12726174C>T ENST00000376221.1 + 4 652 c.652C>T c.(652-654)Cag>Tag p.Q218* NM_001013630.1 NP_001013652.1 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase like 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) carboxylic ester hydrolase activity (GO:0052689) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCCGGGCTCAGGTTCTGAT 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL513016 HGNC:32038 Approved gene with protein product protein-coding gene OTTHUMG00000001889 1p36.21 2016-05-26 2016-05-26 ENSG00000204518 NM_001013630 465 Arylacetamide deacetylase family CCDS30590 OTTHUMG00000001889 NM_001013630 Q5VUY2 ENSG00000204518 uc001auf.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 343066 false 930AADACL3 126767 __UNKNOWN__ hg19 1 12776218 12776218 + 5'UTR SNP A A C 3000860 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12776218A>C ENST00000359318.5 + 1 AADACL3_ENST00000332530.3_5'UTR NM_001103170.1 NP_001096640.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase like 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ hydrolase activity (GO:0016787) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCAGCCTGAGTGTTCTCAC 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL513016 HGNC:32037 Approved gene with protein product protein-coding gene OTTHUMG00000001887 1p36.21 2016-05-26 2016-05-26 ENSG00000188984 NM_001103170 465 Arylacetamide deacetylase family CCDS41253 OTTHUMG00000001887 NM_001103170 Q5VUY0 ENSG00000188984 uc057ckc.1 B3KXR9|Q5VUY1 true false 0.1436,0.8564 false false 1 false true true AADACL3:126767 true true false true true false false false false false false false true false false false false false false true true false 0 true 0 false false false true SNV 0x05010040060517053f000100 1 false 101 rs3000860 126767 12776218 true 931AADACL3 126767 __UNKNOWN__ hg19 1 12776344 12776344 + 5'UTR SNP A A T 3000859 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12776344A>T ENST00000359318.5 + 1 AADACL3_ENST00000332530.3_START_CODON_SNP_p.M1L NM_001103170.1 NP_001096640.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase like 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ hydrolase activity (GO:0016787) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTGTTGACATGGGTGAGTT 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL513016 HGNC:32037 Approved gene with protein product protein-coding gene OTTHUMG00000001887 1p36.21 2016-05-26 2016-05-26 ENSG00000188984 NM_001103170 465 Arylacetamide deacetylase family CCDS41253 OTTHUMG00000001887 NM_001103170 Q5VUY0 ENSG00000188984 uc057ckc.1 B3KXR9|Q5VUY1 true false 0.3435,0.6565 false false 1 false true true AADACL3:126767 true true false true true false false false false false false true false false false false false false false true true true 0 true 0 true false false false SNV 0x050300000b0517053f000100 1 false 101 rs3000859 126767 12776344 true 932AADACL3 126767 __UNKNOWN__ hg19 1 12785415 12785415 + Nonsense_Mutation SNP C C T 371819166 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12785415C>T ENST00000359318.5 + 4 710 c.505C>T c.(505-507)Caa>Taa p.Q169* AADACL3_ENST00000332530.3_Nonsense_Mutation_p.Q99* NM_001103170.1 NP_001096640.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase like 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ hydrolase activity (GO:0016787) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCATTCTCCAAGCCCTGGA 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL513016 HGNC:32037 Approved gene with protein product protein-coding gene OTTHUMG00000001887 1p36.21 2016-05-26 2016-05-26 ENSG00000188984 NM_001103170 465 Arylacetamide deacetylase family CCDS41253 OTTHUMG00000001887 NM_001103170 Q5VUY0 ENSG00000188984 uc057ckc.1 B3KXR9|Q5VUY1 true false false false false false false AADACL3:126767 false true false false false false false false false false false false true false false false false false false true false true 0 false 0 false false false false SNV 0x050200000605040402000100 1 false 138 rs371819166 126767 12785415 true 933AADACL3 126767 __UNKNOWN__ hg19 1 12785542 12785542 + Frame_Shift_Del DEL T T - 763283137 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12785542delT ENST00000359318.5 + 4 836 c.632delT c.(631-633)atgfs p.M211fs AADACL3_ENST00000332530.3_Frame_Shift_Del_p.M141fs NM_001103170.1 NP_001096640.1 Q5VUY0 ADCL3_HUMAN arylacetamide deacetylase like 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ hydrolase activity (GO:0016787) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGGTCATCATGAAAGGTGCC 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL513016 HGNC:32037 Approved gene with protein product protein-coding gene OTTHUMG00000001887 1p36.21 2016-05-26 2016-05-26 ENSG00000188984 NM_001103170 465 Arylacetamide deacetylase family CCDS41253 OTTHUMG00000001887 NM_001103170 Q5VUY0 ENSG00000188984 uc057ckc.1 B3KXR9|Q5VUY1 true false false false false false false AADACL3:126767 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs763283137 126767 12785542 false 934C1orf158 93190 __UNKNOWN__ hg19 1 12806478 12806478 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12806478G>T ENST00000288048.5 + 1 316 c.100G>T c.(100-102)Gag>Tag p.E34* C1orf158_ENST00000376210.3_Nonsense_Mutation_p.E34*|C1orf158_ENST00000474179.1_Intron NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGGATGGAAGAGAGGAGAAA 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029894 HGNC:28567 Approved gene with protein product protein-coding gene MGC35194 1p36.21 2016-09-30 BX647383 ENSG00000157330 12477932 NM_152290 CCDS147, CCDS81264 OTTHUMG00000001888 NM_152290 Q8N1D5 ENSG00000157330 uc001auh.4 Q5VUY4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 93190 false 935C1orf158 93190 __UNKNOWN__ hg19 1 12815677 12815677 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12815677C>T ENST00000288048.5 + 2 355 c.139C>T c.(139-141)Caa>Taa p.Q47* C1orf158_ENST00000376210.3_Intron NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGACACCCCAATCCATTTA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029894 HGNC:28567 Approved gene with protein product protein-coding gene MGC35194 1p36.21 2016-09-30 BX647383 ENSG00000157330 12477932 NM_152290 CCDS147, CCDS81264 OTTHUMG00000001888 NM_152290 Q8N1D5 ENSG00000157330 uc001auh.4 Q5VUY4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 93190 false 936C1orf158 93190 __UNKNOWN__ hg19 1 12815677 12815677 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12815677C>T ENST00000288048.5 + 2 355 c.139C>T c.(139-141)Caa>Taa p.Q47* C1orf158_ENST00000376210.3_Intron NM_152290.2 NP_689503.2 Q8N1D5 CA158_HUMAN chromosome 1 open reading frame 158 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGACACCCCAATCCATTTA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029894 HGNC:28567 Approved gene with protein product protein-coding gene MGC35194 1p36.21 2016-09-30 BX647383 ENSG00000157330 12477932 NM_152290 CCDS147, CCDS81264 OTTHUMG00000001888 NM_152290 Q8N1D5 ENSG00000157330 uc001auh.4 Q5VUY4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 93190 false 937PRAMEF12 390999 __UNKNOWN__ hg19 1 12835245 12835245 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12835245C>T ENST00000357726.4 + 1 262 c.235C>T c.(235-237)Cga>Tga p.R79* NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) central_nervous_system(22)|lung(2) 24 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGATCTTTCGAGCTGTGCT 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL023753 HGNC:22125 Approved gene with protein product protein-coding gene OTTHUMG00000001927 1p36.21 2015-09-10 ENSG00000116726 XM_372760 686 PRAME family CCDS41254 OTTHUMG00000001927 NM_001080830 O95522 ENSG00000116726 uc001aui.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 390999 false 938PRAMEF12 390999 __UNKNOWN__ hg19 1 12835693 12835693 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12835693delA ENST00000357726.4 + 2 321 c.295delA c.(295-297)aaafs p.K99fs NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) central_nervous_system(22)|lung(2) 24 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGCGGTGGAAACTTCAAGT 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL023753 HGNC:22125 Approved gene with protein product protein-coding gene OTTHUMG00000001927 1p36.21 2015-09-10 ENSG00000116726 XM_372760 686 PRAME family CCDS41254 OTTHUMG00000001927 NM_001080830 O95522 ENSG00000116726 uc001aui.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 390999 false 939HNRNPCL1 343069 __UNKNOWN__ hg19 1 12907683 12907683 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12907683G>A ENST00000317869.6 - 2 686 c.460C>T c.(460-462)Cga>Tga p.R154* NM_001146181.1 NP_001139653.1 O60812 HNRC1_HUMAN heterogeneous nuclear ribonucleoprotein C-like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|lung(1)|pancreas(22) 137 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCCCCTTCGTGAGGTGTTT 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471130 HGNC:29295 Approved gene with protein product protein-coding gene HNRPCL1 1p36.21 2014-11-19 2008-04-18 BC002696 ENSG00000179172 NM_001013631 725 RNA binding motif containing CCDS30591 OTTHUMG00000001931 NM_001013631 O60812 ENSG00000179172 uc057cki.1 B2RP44 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 343069 false 940PRAMEF2 65122 __UNKNOWN__ hg19 1 12919041 12919041 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12919041G>A ENST00000240189.2 + 2 264 c.177G>A c.(175-177)tgG>tgA p.W59* NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) biliary_tract(2)|central_nervous_system(44)|lung(3)|pancreas(22) 71 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCAGGCCTGGCCTTTCACCT 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC075009 HGNC:28841 Approved gene with protein product protein-coding gene FLJ43580 1p36.21 2015-09-10 ENSG00000120952 NM_023014 686 PRAME family CCDS149 OTTHUMG00000001986 NM_023014 O60811 ENSG00000120952 uc001aum.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 65122 false 941PRAMEF2 65122 __UNKNOWN__ hg19 1 12919891 12919891 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:12919891G>T ENST00000240189.2 + 3 718 c.631G>T c.(631-633)Gaa>Taa p.E211* NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) biliary_tract(2)|central_nervous_system(44)|lung(3)|pancreas(22) 71 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGAGCTGGAAATTCACAA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC075009 HGNC:28841 Approved gene with protein product protein-coding gene FLJ43580 1p36.21 2015-09-10 ENSG00000120952 NM_023014 686 PRAME family CCDS149 OTTHUMG00000001986 NM_023014 O60811 ENSG00000120952 uc001aum.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 65122 false 942PRAMEF16 __UNKNOWN__ hg19 1 13497778 13497778 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13497778delT ENST00000376121.3 + 3 1104 c.1075delT c.(1075-1077)tgtfs p.C359fs NM_001045480.1 NP_001038945.1 Q5VWM1 PRA16_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTAAAGGACTGTCAGATCCA 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL365443 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 943LRRC38 126755 __UNKNOWN__ hg19 1 13801621 13801621 + 3'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13801621A>C ENST00000376085.3 - 2 NM_001010847.1 NP_001010847.1 Q5VT99 LRC38_HUMAN leucine rich repeat containing 38 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCACCTTTCATGAGGGCACT 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:27005 Approved gene with protein product protein-coding gene 1p36.21 2015-04-07 BC016048 ENSG00000162494 22547800 CCDS53269 OTTHUMG00000007918 615212 NM_001010847 Q5VT99 ENSG00000162494 uc001avb.4 Q96B32 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126755 false 944LRRC38 126755 __UNKNOWN__ hg19 1 13840410 13840410 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13840410T>G ENST00000376085.3 - 1 RP4-597A16.2_ENST00000563570.1_RNA NM_001010847.1 NP_001010847.1 Q5VT99 LRC38_HUMAN leucine rich repeat containing 38 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGTGGCCGTCGCCAAAACG 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:27005 Approved gene with protein product protein-coding gene 1p36.21 2015-04-07 BC016048 ENSG00000162494 22547800 CCDS53269 OTTHUMG00000007918 615212 NM_001010847 Q5VT99 ENSG00000162494 uc001avb.4 Q96B32 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126755 false 945LRRC38 126755 __UNKNOWN__ hg19 1 13842586 13842586 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13842586A>G ENST00000376085.3 - RP4-597A16.2_ENST00000563570.1_RNA NM_001010847.1 NP_001010847.1 Q5VT99 LRC38_HUMAN leucine rich repeat containing 38 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAACAAACCTATTGAGAAATA 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:27005 Approved gene with protein product protein-coding gene 1p36.21 2015-04-07 BC016048 ENSG00000162494 22547800 CCDS53269 OTTHUMG00000007918 615212 NM_001010847 Q5VT99 ENSG00000162494 uc001avb.4 Q96B32 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126755 false 946LRRC38 126755 __UNKNOWN__ hg19 1 13842679 13842679 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13842679G>A ENST00000376085.3 - RP4-597A16.2_ENST00000563570.1_RNA NM_001010847.1 NP_001010847.1 Q5VT99 LRC38_HUMAN leucine rich repeat containing 38 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ion transport (GO:0006811) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGAGGGCCGCATGGGGAAG 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:27005 Approved gene with protein product protein-coding gene 1p36.21 2015-04-07 BC016048 ENSG00000162494 22547800 CCDS53269 OTTHUMG00000007918 615212 NM_001010847 Q5VT99 ENSG00000162494 uc001avb.4 Q96B32 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 126755 false 947PDPN 10630 __UNKNOWN__ hg19 1 13940884 13940884 + Nonsense_Mutation SNP C C T 370056113 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:13940884C>T ENST00000509009.1 + 5 489 c.445C>T c.(445-447)Cga>Tga p.R149* PDPN_ENST00000294489.6_Nonsense_Mutation_p.R230*|PDPN_ENST00000376057.4_Nonsense_Mutation_p.R230*|PDPN_ENST00000376061.4_Nonsense_Mutation_p.R112*|PDPN_ENST00000513143.1_Nonsense_Mutation_p.R112*|PDPN_ENST00000475043.1_Nonsense_Mutation_p.R112*|PDPN_ENST00000487038.1_Nonsense_Mutation_p.R112* podoplanin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(2) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGGTTATGCGAAAAATGTC 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL359771 HGNC:29602 Approved gene with protein product protein-coding gene T1A-2, Gp38, aggrus, GP40, PA2.26 "lung type I cell membrane associated glycoprotein" 1p36.21 2014-11-19 AB127958, AY194238 ENSG00000162493 10393083, 9651190 NM_006474 CCDS30602, CCDS41266, CCDS44060, CCDS53270 OTTHUMG00000007912 608863 NM_001006624 Q86YL7 ENSG00000162493 uc001avd.4 true false false false false false false PDPN:10630 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x050000000605040402000100 1 false 138 rs370056113 10630 13940884 true 948PRDM2 7799 __UNKNOWN__ hg19 1 14032007 14032007 + 5'UTR SNP G G A 2495060 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14032007G>A ENST00000235372.7 + 1 PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_5'UTR NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR/SET domain 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|oesophagus(4)|pancreas(22)|salivary_gland(24)|soft_tissue(11)|upper_aerodigestive_tract(1) 131 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCCTGCACCGTCTACCCTTC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U23736 HGNC:9347 Approved gene with protein product protein-coding gene "PR domain containing 2, with ZNF domain", "PR domain 2" RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1, KMT8A "retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B" 1p36.21 2016-11-03 2016-07-18 U17838 ENSG00000116731 7538672 NM_012231 487|1197 Lysine methyltransferases|PR/SET domain family CCDS150, CCDS151, CCDS30603, CCDS44061 OTTHUMG00000007917 601196 NM_001007257 Q13029 ENSG00000116731 uc001avi.3 B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9 true false 0.9439,0.05611 false false 1 false true false PRDM2:7799 true true true true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.91349,0.0865101 false false true SNV 0x050100480005150537000100 1 false 100 rs2495060 7799 14032007 true 949PRDM2 7799 __UNKNOWN__ hg19 1 14059374 14059374 + Nonsense_Mutation SNP G G A 148256671 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14059374G>A ENST00000235372.7 + 4 1084 c.228G>A c.(226-228)tgG>tgA p.W76* PRDM2_ENST00000376048.5_Nonsense_Mutation_p.W76*|PRDM2_ENST00000311066.5_Nonsense_Mutation_p.W76* NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR/SET domain 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|oesophagus(4)|pancreas(22)|salivary_gland(24)|soft_tissue(11)|upper_aerodigestive_tract(1) 131 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATACATGTGGGAGGTAAGAA 0.2743142144638404 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U23736 HGNC:9347 Approved gene with protein product protein-coding gene "PR domain containing 2, with ZNF domain", "PR domain 2" RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1, KMT8A "retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B" 1p36.21 2016-11-03 2016-07-18 U17838 ENSG00000116731 7538672 NM_012231 487|1197 Lysine methyltransferases|PR/SET domain family CCDS150, CCDS151, CCDS30603, CCDS44061 OTTHUMG00000007917 601196 NM_001007257 Q13029 ENSG00000116731 uc001avi.3 B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9 true false 0.9998,0.0001997 false false 0 false false false PRDM2:7799 false true false true true false false false false false false false true false false false false false false true false true 0 false 0 false false false false SNV 0x050200000605040436000100 1 false 134 rs148256671 7799 14059374 true 950PRDM2 7799 __UNKNOWN__ hg19 1 14149668 14149668 + 3'UTR SNP T T G 77717345 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14149668T>G ENST00000235372.7 + 10 PRDM2_ENST00000376048.5_Missense_Mutation_p.W224G|PRDM2_ENST00000503842.1_Missense_Mutation_p.W60G|PRDM2_ENST00000505823.1_Missense_Mutation_p.W60G NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR/SET domain 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|oesophagus(4)|pancreas(22)|salivary_gland(24)|soft_tissue(11)|upper_aerodigestive_tract(1) 131 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGTGACCTGGAATCAGTG 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U23736 HGNC:9347 Approved gene with protein product protein-coding gene "PR domain containing 2, with ZNF domain", "PR domain 2" RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1, KMT8A "retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B" 1p36.21 2016-11-03 2016-07-18 U17838 ENSG00000116731 7538672 NM_012231 487|1197 Lysine methyltransferases|PR/SET domain family CCDS150, CCDS151, CCDS30603, CCDS44061 OTTHUMG00000007917 601196 NM_001007257 Q13029 ENSG00000116731 uc001avi.3 B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9 true false 0.9964,0.003594 false false 1 false false false PRDM2:7799 false true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.997287,0.0027131 false true false SNV 0x050100800a05040436000100 1 false 131 rs77717345 7799 14149668 true 951PRDM2 7799 __UNKNOWN__ hg19 1 14149672 14149672 + 3'UTR SNP A A G 202013308 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14149672A>G ENST00000235372.7 + 10 PRDM2_ENST00000376048.5_Missense_Mutation_p.N225S|PRDM2_ENST00000503842.1_Missense_Mutation_p.N61S|PRDM2_ENST00000505823.1_Missense_Mutation_p.N61S NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR/SET domain 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|oesophagus(4)|pancreas(22)|salivary_gland(24)|soft_tissue(11)|upper_aerodigestive_tract(1) 131 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGACCTGGAATCAGTGAAGC 0.513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U23736 HGNC:9347 Approved gene with protein product protein-coding gene "PR domain containing 2, with ZNF domain", "PR domain 2" RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1, KMT8A "retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B" 1p36.21 2016-11-03 2016-07-18 U17838 ENSG00000116731 7538672 NM_012231 487|1197 Lysine methyltransferases|PR/SET domain family CCDS150, CCDS151, CCDS30603, CCDS44061 OTTHUMG00000007917 601196 NM_001007257 Q13029 ENSG00000116731 uc001avi.3 B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9 true false 0.9998,0.0001997 false false 0 false false false PRDM2:7799 false true false false true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999244,0.000755546 false true false SNV 0x050000800a05040426000100 1 false 137 rs202013308 7799 14149672 true 952PRDM2 7799 __UNKNOWN__ hg19 1 14150709 14150709 + 3'UTR SNP C C T 2697964 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14150709C>T ENST00000235372.7 + 10 PRDM2_ENST00000376048.5_3'UTR NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR/SET domain 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|oesophagus(4)|pancreas(22)|salivary_gland(24)|soft_tissue(11)|upper_aerodigestive_tract(1) 131 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGCAGACCCCAGGCAAGG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U23736 HGNC:9347 Approved gene with protein product protein-coding gene "PR domain containing 2, with ZNF domain", "PR domain 2" RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1, KMT8A "retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B" 1p36.21 2016-11-03 2016-07-18 U17838 ENSG00000116731 7538672 NM_012231 487|1197 Lysine methyltransferases|PR/SET domain family CCDS150, CCDS151, CCDS30603, CCDS44061 OTTHUMG00000007917 601196 NM_001007257 Q13029 ENSG00000116731 uc001avi.3 B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9 true false 0.1807,0.8193 false false 1 false true true PRDM2:7799 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.152929,0.847071 false true false SNV 0x05010080000517053f000100 1 false 100 rs2697964 7799 14150709 true 953PRDM2 7799 __UNKNOWN__ hg19 1 14151506 14151506 + 3'UTR SNP C C T 2903 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14151506C>T ENST00000235372.7 + 10 PRDM2_ENST00000376048.5_3'UTR NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR/SET domain 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|oesophagus(4)|pancreas(22)|salivary_gland(24)|soft_tissue(11)|upper_aerodigestive_tract(1) 131 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTTCAAGACGACAGCTCTG 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U23736 HGNC:9347 Approved gene with protein product protein-coding gene "PR domain containing 2, with ZNF domain", "PR domain 2" RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1, KMT8A "retinoblastoma protein-binding zinc finger protein", "retinoblastoma protein-interacting zinc finger protein", "MTE-binding protein", "zinc-finger DNA-binding protein", "GATA-3 binding protein G3B" 1p36.21 2016-11-03 2016-07-18 U17838 ENSG00000116731 7538672 NM_012231 487|1197 Lysine methyltransferases|PR/SET domain family CCDS150, CCDS151, CCDS30603, CCDS44061 OTTHUMG00000007917 601196 NM_001007257 Q13029 ENSG00000116731 uc001avi.3 B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9 true false 0.9583,0.04173 false false 1 false true false PRDM2:7799 true true false true true false false false false false false false false false false false false false false false true false 0 true 0 false 0.950065,0.0499347 false true false SNV 0x05010080000515053f000100 1 false 36 rs2903 7799 14151506 true 954RP4-704D23.1 __UNKNOWN__ hg19 1 14676909 14676909 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:14676909C>T ENST00000447908.1 - c.e1-455G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCTGGTTCCTCATTATGGC 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 955KAZN 23254 __UNKNOWN__ hg19 1 15442058 15442058 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15442058T>C ENST00000376030.2 + 15 NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCTTGACATTGTTAACCCA 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:29173 Approved gene with protein product protein-coding gene KIAA1026, KAZRIN, FLJ43806 1p36.21 2014-11-19 2011-01-31 AY505119 ENSG00000189337 15337775, 18840647 NM_001017999 760 Sterile alpha motif domain containing CCDS30604, CCDS41267, CCDS152, CCDS41268 OTTHUMG00000002042 NM_001017999 Q674X7 ENSG00000189337 uc001avm.5 B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23254 false 956KAZN 23254 __UNKNOWN__ hg19 1 15444288 15444288 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15444288C>T ENST00000376030.2 + 15 TMEM51-AS1_ENST00000310916.3_RNA NM_201628.2 NP_963922.2 Q674X7 KAZRN_HUMAN kazrin, periplakin interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ keratinization (GO:0031424) cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCGAGGCTCCGGAGGGCTCT 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:29173 Approved gene with protein product protein-coding gene KIAA1026, KAZRIN, FLJ43806 1p36.21 2014-11-19 2011-01-31 AY505119 ENSG00000189337 15337775, 18840647 NM_001017999 760 Sterile alpha motif domain containing CCDS30604, CCDS41267, CCDS152, CCDS41268 OTTHUMG00000002042 NM_001017999 Q674X7 ENSG00000189337 uc001avm.5 B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23254 false 957TMEM51-AS1 200197 __UNKNOWN__ hg19 1 15446168 15446168 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15446168G>A ENST00000310916.3 - c.e5+768C>T TMEM51 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGCCAACTGTAGTAAGTCT 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:26301 Approved RNA, long non-coding non-coding RNA C1orf126 "chromosome 1 open reading frame 126" FLJ23703 1p36.21 2014-11-18 2013-12-05 2013-12-05 AK074283 ENSG00000175147 NR_027136 OTTHUMG00000002043 NR_027136 ENSG00000175147 uc009voh.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 200197 false 958TMEM51-AS1 200197 __UNKNOWN__ hg19 1 15466832 15466832 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15466832C>T ENST00000310916.3 - c.e1-11955G>A TMEM51 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGGCTGGACTCTCCTGCTG 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:26301 Approved RNA, long non-coding non-coding RNA C1orf126 "chromosome 1 open reading frame 126" FLJ23703 1p36.21 2014-11-18 2013-12-05 2013-12-05 AK074283 ENSG00000175147 NR_027136 OTTHUMG00000002043 NR_027136 ENSG00000175147 uc009voh.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 200197 false 959TMEM51-AS1 200197 __UNKNOWN__ hg19 1 15467263 15467263 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15467263C>T ENST00000310916.3 - c.e1-11524G>A TMEM51 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAGAAAGACGATGAGGGTG 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:26301 Approved RNA, long non-coding non-coding RNA C1orf126 "chromosome 1 open reading frame 126" FLJ23703 1p36.21 2014-11-18 2013-12-05 2013-12-05 AK074283 ENSG00000175147 NR_027136 OTTHUMG00000002043 NR_027136 ENSG00000175147 uc009voh.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 200197 false 960TMEM51-AS1 200197 __UNKNOWN__ hg19 1 15471992 15471992 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15471992T>G ENST00000310916.3 - c.e1-6795A>C TMEM51 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTCTAATCTAAAGATCTCA 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:26301 Approved RNA, long non-coding non-coding RNA C1orf126 "chromosome 1 open reading frame 126" FLJ23703 1p36.21 2014-11-18 2013-12-05 2013-12-05 AK074283 ENSG00000175147 NR_027136 OTTHUMG00000002043 NR_027136 ENSG00000175147 uc009voh.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 200197 false 961TMEM51 55092 __UNKNOWN__ hg19 1 15477865 15477865 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15477865G>A ENST00000376008.2 + TMEM51_ENST00000376014.3_5'Flank|TMEM51_ENST00000400796.3_5'Flank|TMEM51_ENST00000428417.1_5'Flank|TMEM51_ENST00000434578.2_5'Flank|TMEM51-AS1_ENST00000310916.3_RNA Q9NW97 TMM51_HUMAN transmembrane protein 51 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAAGGAGAGGCATGCTTCCT 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457120 HGNC:25488 Approved gene with protein product protein-coding gene C1orf72 "chromosome 1 open reading frame 72" FLJ10199 1p36.21 2014-11-18 2005-05-22 2005-05-22 AK098467 ENSG00000171729 12477932 NM_018022 CCDS154, CCDS81266 OTTHUMG00000002046 NM_001136216 Q9NW97 ENSG00000171729 uc010obk.3 A8K819 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55092 false 962TMEM51 55092 __UNKNOWN__ hg19 1 15546761 15546761 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15546761G>A ENST00000428417.1 + 3 TMEM51_ENST00000376008.2_3'UTR|TMEM51_ENST00000376014.3_3'UTR|TMEM51_ENST00000400796.3_3'UTR|TMEM51_ENST00000434578.2_3'UTR NM_001136217.1 NP_001129689.1 Q9NW97 TMM51_HUMAN transmembrane protein 51 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGGCTCTCGCAGAGCCCCT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457120 HGNC:25488 Approved gene with protein product protein-coding gene C1orf72 "chromosome 1 open reading frame 72" FLJ10199 1p36.21 2014-11-18 2005-05-22 2005-05-22 AK098467 ENSG00000171729 12477932 NM_018022 CCDS154, CCDS81266 OTTHUMG00000002046 NM_001136216 Q9NW97 ENSG00000171729 uc010obk.3 A8K819 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55092 false 963FHAD1 114827 __UNKNOWN__ hg19 1 15701094 15701094 + Nonsense_Mutation SNP C C T 367730091 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15701094C>T ENST00000375998.4 + 25 3478 c.3478C>T c.(3478-3480)Cga>Tga p.R1160* FHAD1_ENST00000358897.4_Nonsense_Mutation_p.R1160*|FHAD1_ENST00000417793.1_Nonsense_Mutation_p.R1124*|FHAD1_ENST00000375999.3_Nonsense_Mutation_p.R1160*|FHAD1_ENST00000314740.8_Nonsense_Mutation_p.R413*|FHAD1_ENST00000471347.1_Intron B1AJZ9 FHAD1_HUMAN forkhead associated phosphopeptide binding domain 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|central_nervous_system(44)|pancreas(22)|salivary_gland(1) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTCGAGCGCGAATTAAAGA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL391094 HGNC:29408 Approved gene with protein product protein-coding gene "forkhead-associated (FHA) phosphopeptide binding domain 1" KIAA1937 1p36.21 2016-06-21 2016-06-21 AK093300 ENSG00000142621 11572484 NM_052929 OTTHUMG00000002088 NM_052929 B1AJZ9 ENSG00000142621 uc001awb.2 Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05 true false 0.9998,0.0001997 false false 0 false false false FHAD1:114827 false true false false true false false false false false false false true false false false false false false true false false 0 false 0 false 0.999141,0.000858575 false false false SNV 0x050000000605040426000100 1 false 138 rs367730091 114827 15701094 true 964EFHD2 79180 __UNKNOWN__ hg19 1 15732793 15732793 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15732793A>G ENST00000375980.4 + RP3-467K16.4_ENST00000427824.1_RNA NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family member D2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ membrane (GO:0016020) calcium ion binding (GO:0005509) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAAAGGATCAATCGTCTTGGT 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:28670 Approved gene with protein product protein-coding gene "EF hand domain containing 2" MGC4342 "swiprosin-1" 1p36.21 2016-10-05 2015-11-05 BC014923 ENSG00000142634 21244694 NM_024329 863 EF-hand domain containing CCDS155 OTTHUMG00000002254 616450 NM_024329 Q96C19 ENSG00000142634 uc001awh.2 Q5JYW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79180 false 965EFHD2 79180 __UNKNOWN__ hg19 1 15733394 15733394 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15733394G>A ENST00000375980.4 + RP3-467K16.4_ENST00000427824.1_RNA NM_024329.5 NP_077305.2 Q96C19 EFHD2_HUMAN EF-hand domain family member D2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ membrane (GO:0016020) calcium ion binding (GO:0005509) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAATTGCCCCGGATGAATATT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:28670 Approved gene with protein product protein-coding gene "EF hand domain containing 2" MGC4342 "swiprosin-1" 1p36.21 2016-10-05 2015-11-05 BC014923 ENSG00000142634 21244694 NM_024329 863 EF-hand domain containing CCDS155 OTTHUMG00000002254 616450 NM_024329 Q96C19 ENSG00000142634 uc001awh.2 Q5JYW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79180 false 966CTRC 11330 __UNKNOWN__ hg19 1 15767020 15767020 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15767020G>A ENST00000375949.4 + 3 190 c.164G>A c.(163-165)tGg>tAg p.W55* CTRC_ENST00000375943.2_Intron|CTRC_ENST00000483406.1_Intron NM_007272.2 NP_009203.2 Q99895 CTRC_HUMAN chymotrypsin C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ proteolysis (GO:0006508) peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACGACACGTGGAGGCATACG 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y13697 HGNC:2523 Approved gene with protein product protein-coding gene "chymotrypsin C (caldecrin)" CLCR, ELA4 "elastase 4", "caldecrin" 1p36.21 2015-11-30 2015-11-30 BC015118 3.4.21.2 ENSG00000162438 8635596 NM_007272 CCDS156 OTTHUMG00000002255 601405 NM_007272 Q99895 ENSG00000162438 uc001awi.2 A8K082|O00765|Q9NUH5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11330 false 967CELA2B 51032 __UNKNOWN__ hg19 1 15813922 15813922 + Nonsense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15813922G>A ENST00000375910.3 + 7 807 c.782G>A c.(781-783)tGg>tAg p.W261* NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin like elastase family member 2B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAACGACTGGATCAATTCG 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M16653 HGNC:29995 Approved gene with protein product protein-coding gene "chymotrypsin-like elastase family, member 2B" RP11-265F14.2, ELA2B "pancreatic elastase IIB" 1p36.21 2015-11-17 2015-11-17 ENSG00000215704 3646943, 16327289 NM_015849 CCDS30605 OTTHUMG00000002259 609444 NM_015849 P08218 ENSG00000215704 uc001awl.3 Q14D16|Q6ISM5|Q96QV5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51032 false 968CASP9 842 __UNKNOWN__ hg19 1 15844653 15844653 + Nonsense_Mutation SNP C C A 201216482 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15844653C>A ENST00000333868.5 - 2 465 c.370G>T c.(370-372)Gaa>Taa p.E124* CASP9_ENST00000546424.1_Nonsense_Mutation_p.E124*|CASP9_ENST00000348549.5_Nonsense_Mutation_p.E124*|CASP9_ENST00000375890.4_Nonsense_Mutation_p.E41*|CASP9_ENST00000469637.1_Intron P55211 CASP9_HUMAN caspase 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770) apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 703 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGGTGTTTCCGGTCTGAGA 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U60521 HGNC:1511 Approved gene with protein product protein-coding gene "caspase 9, apoptosis-related cysteine protease", "caspase 9, apoptosis-related cysteine peptidase" MCH6, ICE-LAP6, APAF-3, PPP1R56 "protein phosphatase 1, regulatory subunit 56" 1p36.21 2016-04-25 2015-11-12 U60521 3.4.22.62 ENSG00000132906 8663294, 9390557 NM_032996 959|694|468|1341 Caspase recruitment domain containing|Protein phosphatase 1 regulatory subunits|Caspases|Apoptosome CCDS158, CCDS159, CCDS59995 OTTHUMG00000002256 602234 NM_001229 P55211 ENSG00000132906 uc001awn.5 B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8 true false false false false false false CASP9:842 false true true false false false false false false false false false true false false false false false false true false false 0 false 0 false false false true SNV 0x050000480605040402000100 1 false 137 rs201216482 842 15844653 true 969CASP9 842 __UNKNOWN__ hg19 1 15844755 15844755 + Nonsense_Mutation SNP G G A 144884967 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15844755G>A ENST00000333868.5 - 2 363 c.268C>T c.(268-270)Cga>Tga p.R90* CASP9_ENST00000546424.1_Nonsense_Mutation_p.R90*|CASP9_ENST00000348549.5_Nonsense_Mutation_p.R90*|CASP9_ENST00000375890.4_Nonsense_Mutation_p.R7*|CASP9_ENST00000469637.1_Intron P55211 CASP9_HUMAN caspase 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770) apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634) cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 703 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGTTAGTTCGCAGAAACGAA 0.513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U60521 HGNC:1511 Approved gene with protein product protein-coding gene "caspase 9, apoptosis-related cysteine protease", "caspase 9, apoptosis-related cysteine peptidase" MCH6, ICE-LAP6, APAF-3, PPP1R56 "protein phosphatase 1, regulatory subunit 56" 1p36.21 2016-04-25 2015-11-12 U60521 3.4.22.62 ENSG00000132906 8663294, 9390557 NM_032996 959|694|468|1341 Caspase recruitment domain containing|Protein phosphatase 1 regulatory subunits|Caspases|Apoptosome CCDS158, CCDS159, CCDS59995 OTTHUMG00000002256 602234 NM_001229 P55211 ENSG00000132906 uc001awn.5 B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8 true false false false false false false CASP9:842 false true false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false true SNV 0x050000400605040402000100 1 false 134 rs144884967 842 15844755 true 970DNAJC16 23341 __UNKNOWN__ hg19 1 15863057 15863057 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15863057C>T ENST00000375847.3 + 4 486 c.322C>T c.(322-324)Cga>Tga p.R108* DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R108*|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R108* NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ heat shock protein family (Hsp40) member C16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell redox homeostasis (GO:0045454) integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(1)|pancreas(22) 271 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAACAGCAGCGAGAGTATCG 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749567 HGNC:29157 Approved gene with protein product protein-coding gene "DnaJ (Hsp40) homolog, subfamily C, member 16" KIAA0962 1p36.21 2016-10-05 2015-11-19 AB023179 ENSG00000116138 NM_015291 584 DNAJ (HSP40) heat shock proteins CCDS30606, CCDS72710 OTTHUMG00000002358 NM_001287811 Q9Y2G8 ENSG00000116138 uc001aws.4 Q68D57|Q86X32|Q8N5P4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23341 false 971DNAJC16 23341 __UNKNOWN__ hg19 1 15886024 15886024 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15886024C>T ENST00000375847.3 + 8 1191 c.1027C>T c.(1027-1029)Cga>Tga p.R343* DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R343*|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R343*|DNAJC16_ENST00000483270.1_5'Flank NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ heat shock protein family (Hsp40) member C16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell redox homeostasis (GO:0045454) integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(1)|pancreas(22) 271 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCTAGGCCCGAGGTATGAA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749567 HGNC:29157 Approved gene with protein product protein-coding gene "DnaJ (Hsp40) homolog, subfamily C, member 16" KIAA0962 1p36.21 2016-10-05 2015-11-19 AB023179 ENSG00000116138 NM_015291 584 DNAJ (HSP40) heat shock proteins CCDS30606, CCDS72710 OTTHUMG00000002358 NM_001287811 Q9Y2G8 ENSG00000116138 uc001aws.4 Q68D57|Q86X32|Q8N5P4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23341 false 972DNAJC16 23341 __UNKNOWN__ hg19 1 15886141 15886141 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15886141C>T ENST00000375847.3 + 8 1308 c.1144C>T c.(1144-1146)Cga>Tga p.R382* DNAJC16_ENST00000375849.1_Nonsense_Mutation_p.R382*|DNAJC16_ENST00000375838.1_Nonsense_Mutation_p.R382*|DNAJC16_ENST00000483270.1_Intron NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ heat shock protein family (Hsp40) member C16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell redox homeostasis (GO:0045454) integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(1)|pancreas(22) 271 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGTCGCATCGACAGAGGAA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749567 HGNC:29157 Approved gene with protein product protein-coding gene "DnaJ (Hsp40) homolog, subfamily C, member 16" KIAA0962 1p36.21 2016-10-05 2015-11-19 AB023179 ENSG00000116138 NM_015291 584 DNAJ (HSP40) heat shock proteins CCDS30606, CCDS72710 OTTHUMG00000002358 NM_001287811 Q9Y2G8 ENSG00000116138 uc001aws.4 Q68D57|Q86X32|Q8N5P4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23341 false 973AGMAT 79814 __UNKNOWN__ hg19 1 15909882 15909882 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15909882delG ENST00000375826.3 - 2 425 c.281delC c.(280-282)cctfs p.P94fs DNAJC16_ENST00000483270.1_Intron NM_024758.4 NP_079034.3 Q9BSE5 SPEB_HUMAN agmatinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|putrescine biosynthetic process from arginine (GO:0033388)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) agmatinase activity (GO:0008783)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGCGGCGAGGTCCGAATCT 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(126;1678 1780 25805 43508 49531) BC005090 HGNC:18407 Approved gene with protein product protein-coding gene "agmatine ureohydrolase (agmatinase)" FLJ23384 1p36.21 2016-10-05 2015-11-03 AY057097 3.5.3.11 ENSG00000116771 11804860, 14648699, 11914032 NM_024758 CCDS160 OTTHUMG00000002357 NM_024758 Q9BSE5 ENSG00000116771 uc001awv.3 Q5TDH1|Q9H5J3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79814 false 974RSC1A1 6248 __UNKNOWN__ hg19 1 15986922 15986922 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15986922C>T ENST00000345034.1 + 1 559 c.559C>T c.(559-561)Caa>Taa p.Q187* DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulator of solute carriers 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ion channel inhibitor activity (GO:0008200) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCACATGACCAAGAATATCT 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X82877 HGNC:10458 Approved gene with protein product protein-coding gene "regulatory solute carrier protein, family 1, member 1" RS1 1p36.21 2016-10-05 2016-09-29 BN000122, X82877 ENSG00000215695 NM_006511 CCDS161 OTTHUMG00000067830 601966 NM_006511 Q92681 ENSG00000215695 uc010obn.2 B2RBP5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6248 false 975RSC1A1 6248 __UNKNOWN__ hg19 1 15987390 15987390 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15987390G>T ENST00000345034.1 + 1 1027 c.1027G>T c.(1027-1029)Gag>Tag p.E343* DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulator of solute carriers 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ion channel inhibitor activity (GO:0008200) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCTTCTGTGGAGTCAGCAGA 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X82877 HGNC:10458 Approved gene with protein product protein-coding gene "regulatory solute carrier protein, family 1, member 1" RS1 1p36.21 2016-10-05 2016-09-29 BN000122, X82877 ENSG00000215695 NM_006511 CCDS161 OTTHUMG00000067830 601966 NM_006511 Q92681 ENSG00000215695 uc010obn.2 B2RBP5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6248 false 976RSC1A1 6248 __UNKNOWN__ hg19 1 15987735 15987735 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15987735G>T ENST00000345034.1 + 1 1372 c.1372G>T c.(1372-1374)Gaa>Taa p.E458* DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulator of solute carriers 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ion channel inhibitor activity (GO:0008200) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCGATAAGGAAGGTGTCCC 0.40648379052369077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X82877 HGNC:10458 Approved gene with protein product protein-coding gene "regulatory solute carrier protein, family 1, member 1" RS1 1p36.21 2016-10-05 2016-09-29 BN000122, X82877 ENSG00000215695 NM_006511 CCDS161 OTTHUMG00000067830 601966 NM_006511 Q92681 ENSG00000215695 uc010obn.2 B2RBP5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6248 false 977RSC1A1 6248 __UNKNOWN__ hg19 1 15987735 15987735 + Nonsense_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15987735G>T ENST00000345034.1 + 1 1372 c.1372G>T c.(1372-1374)Gaa>Taa p.E458* DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulator of solute carriers 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ion channel inhibitor activity (GO:0008200) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCGATAAGGAAGGTGTCCC 0.40648379052369077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X82877 HGNC:10458 Approved gene with protein product protein-coding gene "regulatory solute carrier protein, family 1, member 1" RS1 1p36.21 2016-10-05 2016-09-29 BN000122, X82877 ENSG00000215695 NM_006511 CCDS161 OTTHUMG00000067830 601966 NM_006511 Q92681 ENSG00000215695 uc010obn.2 B2RBP5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6248 false 978RSC1A1 6248 __UNKNOWN__ hg19 1 15987835 15987835 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15987835delA ENST00000345034.1 + 1 1471 c.1472delA c.(1471-1473)gaafs p.I492fs DDI2_ENST00000480945.1_3'UTR NM_006511.1 NP_006502.1 Q92681 RSCA1_HUMAN regulator of solute carriers 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810) brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ion channel inhibitor activity (GO:0008200) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAGGTGTAGAAATTTCACCC 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X82877 HGNC:10458 Approved gene with protein product protein-coding gene "regulatory solute carrier protein, family 1, member 1" RS1 1p36.21 2016-10-05 2016-09-29 BN000122, X82877 ENSG00000215695 NM_006511 CCDS161 OTTHUMG00000067830 601966 NM_006511 Q92681 ENSG00000215695 uc010obn.2 B2RBP5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6248 false 979DDI2 84301 __UNKNOWN__ hg19 1 15993338 15993338 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:15993338A>G ENST00000480945.1 + 10 NM_032341.4 NP_115717.3 Q5TDH0 DDI2_HUMAN DNA damage inducible 1 homolog 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ aspartic-type endopeptidase activity (GO:0004190) breast(11)|central_nervous_system(22)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|lung(1) 149 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGGTTCCACTTCAGAGCA 0.4463840399002494 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:24578 Approved gene with protein product protein-coding gene "DDI1, DNA-damage inducible 1, homolog 2 (S. cerevisiae)", "DNA-damage inducible 1 homolog 2 (S. cerevisiae)", "DNA-damage inducible 1 homolog 2" MGC14844 1p36.21 2016-10-05 2015-11-16 ENSG00000197312 NM_032341 CCDS30607 OTTHUMG00000002381 NM_032341 Q5TDH0 ENSG00000197312 uc001awz.4 A8KAE1|Q7RTZ0|Q9BRT1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84301 false 980PLEKHM2 23207 __UNKNOWN__ hg19 1 16054617 16054617 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16054617C>T ENST00000375799.3 + 10 2031 c.1804C>T c.(1804-1806)Cga>Tga p.R602* PLEKHM2_ENST00000375793.2_Nonsense_Mutation_p.R582*|RP11-288I21.1_ENST00000453804.1_RNA|PLEKHM2_ENST00000477849.1_5'Flank NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology and RUN domain containing M2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Golgi organization (GO:0007030) cytoplasm (GO:0005737) kinesin binding (GO:0019894) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACGTGTTCCGAGAAAACGA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:29131 Approved gene with protein product protein-coding gene "pleckstrin homology domain containing, family M (with RUN domain) member 2" KIAA0842 1p36.21 2016-10-05 2015-11-18 AB020649 ENSG00000116786 10048485 NM_015164 682 Pleckstrin homology domain containing CCDS44063 OTTHUMG00000003062 609613 NM_015164 Q8IWE5 ENSG00000116786 uc010obo.2 O94928|Q5VT65|Q6NUH9|Q7L8G1|Q8IVT7|Q8N2T4|Q96AY0|Q9NTF7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23207 false 981TMEM82 388595 __UNKNOWN__ hg19 1 16067904 16067904 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16067904T>C ENST00000375782.1 + RP11-169K16.4_ENST00000418525.1_RNA|RP11-288I21.1_ENST00000453804.1_5'Flank|TMEM82_ENST00000465575.1_5'Flank NM_001013641.2 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTCTGTGGTGAATCTCAGT 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC137240 HGNC:32350 Approved gene with protein product protein-coding gene 1p36.21 2015-10-23 ENSG00000162460 NM_001013641 CCDS30608 OTTHUMG00000003065 NM_001013641 A0PJX8 ENSG00000162460 uc001axc.5 B2RP27|Q5VVD4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388595 false 982TMEM82 388595 __UNKNOWN__ hg19 1 16068364 16068364 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16068364G>A ENST00000375782.1 + RP11-169K16.4_ENST00000418525.1_RNA|RP11-288I21.1_ENST00000453804.1_5'Flank|TMEM82_ENST00000465575.1_5'Flank NM_001013641.2 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAGATGGAGCCTGGGACTT 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC137240 HGNC:32350 Approved gene with protein product protein-coding gene 1p36.21 2015-10-23 ENSG00000162460 NM_001013641 CCDS30608 OTTHUMG00000003065 NM_001013641 A0PJX8 ENSG00000162460 uc001axc.5 B2RP27|Q5VVD4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388595 false 983TMEM82 388595 __UNKNOWN__ hg19 1 16070922 16070922 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16070922C>T ENST00000375782.1 + 4 742 c.604C>T c.(604-606)Cag>Tag p.Q202* RP11-169K16.4_ENST00000418525.1_RNA|TMEM82_ENST00000465575.1_Intron NM_001013641.2 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCCTCCCCCAGCTGCTGGG 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC137240 HGNC:32350 Approved gene with protein product protein-coding gene 1p36.21 2015-10-23 ENSG00000162460 NM_001013641 CCDS30608 OTTHUMG00000003065 NM_001013641 A0PJX8 ENSG00000162460 uc001axc.5 B2RP27|Q5VVD4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388595 false 984FBLIM1 54751 __UNKNOWN__ hg19 1 16096939 16096939 + Nonsense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16096939C>T ENST00000375766.3 + 6 1217 c.577C>T c.(577-579)Cga>Tga p.R193* FBLIM1_ENST00000375771.1_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000441801.2_Nonsense_Mutation_p.R193*|FBLIM1_ENST00000332305.5_Nonsense_Mutation_p.R96*|FBLIM1_ENST00000400773.1_Nonsense_Mutation_p.R96* NM_017556.2 NP_060026.2 Q8WUP2 FBLI1_HUMAN filamin binding LIM protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction assembly (GO:0034329)|regulation of cell shape (GO:0008360)|regulation of integrin activation (GO:0033623)|single organismal cell-cell adhesion (GO:0016337) cytosol (GO:0005829)|focal adhesion (GO:0005925)|stress fiber (GO:0001725) filamin binding (GO:0031005)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTGTCCCCCCGAGAGCTGGC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC019895 HGNC:24686 Approved gene with protein product protein-coding gene FBLP-1, CAL, migfilin 1p36.21 2016-10-05 ENSG00000162458 12679033, 12496242 NM_001024215 1218 LIM domain containing CCDS163, CCDS30609, CCDS44064 OTTHUMG00000003079 607747 NM_001024215 Q8WUP2 ENSG00000162458 uc001axd.2 B3KNY0|Q5VVE0|Q5VVE1|Q8IX23|Q96T00|Q9UFD6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54751 false 985RP11-169K16.9 __UNKNOWN__ hg19 1 16161836 16161836 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16161836T>C ENST00000317122.1 - c.e2+862A>G RP11-169K16.9_ENST00000535249.1_RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGTGAAGATGGGTGGTGAA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 986SPEN 23013 __UNKNOWN__ hg19 1 16255007 16255007 + Nonsense_Mutation SNP C C T 72649638 by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16255007C>T ENST00000375759.3 + 11 2476 c.2272C>T c.(2272-2274)Cga>Tga p.R758* NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714) NS(200)|biliary_tract(2)|breast(210)|central_nervous_system(44)|endometrium(2)|haematopoietic_and_lymphoid_tissue(302)|kidney(141)|large_intestine(37)|lung(100)|oesophagus(13)|ovary(2)|pancreas(22)|prostate(26)|salivary_gland(212)|skin(1)|soft_tissue(8)|stomach(47)|upper_aerodigestive_tract(1) 1370 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTTACAGCCGATCCTCAGA 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL450998 HGNC:17575 Approved gene with protein product protein-coding gene "SPEN homolog, transcriptional regulator (Drosophila)", "spen homolog, transcriptional regulator (Drosophila)" KIAA0929, MINT, SHARP, RBM15C 1p36.21-p36.13 2017-06-08 2013-10-17 ENSG00000065526 10451362, 11331609 NM_015001 725 RNA binding motif containing CCDS164 OTTHUMG00000009376 613484 NM_015001 Q96T58 ENSG00000065526 uc001axk.2 Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556 true false false false false false false SPEN:23013 false true false true false false false false false false false false true false false false false false false true false false 0 false 0 false false false false SNV 0x05000000060500041e000100 1 false 130 rs72649638 23013 16255007 false 987HSPB7 27129 __UNKNOWN__ hg19 1 16341354 16341354 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16341354T>G ENST00000375718.4 - 4 HSPB7_ENST00000311890.9_3'UTR|HSPB7_ENST00000411503.1_3'UTR|CLCNKA_ENST00000464764.1_5'Flank Q9UBY9 HSPB7_HUMAN heat shock protein family B (small) member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of heart contraction (GO:0008016)|response to unfolded protein (GO:0006986) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634) protein C-terminus binding (GO:0008022) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACCCCACTTGGCCTTGCC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471167 HGNC:5249 Approved gene with protein product protein-coding gene "heat shock 27kD protein family, member 7 (cardiovascular)", "heat shock 27kDa protein family, member 7 (cardiovascular)" cvHSP 1p36.13 2015-11-23 2015-11-19 AF155908 ENSG00000173641 10593960 NM_014424 585 Small heat shock proteins CCDS30611 OTTHUMG00000009531 610692 NM_014424 Q9UBY9 ENSG00000173641 uc001axo.2 B3KQ37|C9K0Y0|Q9NU17 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 27129 false 988CLCNKA 1187 __UNKNOWN__ hg19 1 16348412 16348412 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16348412T>C ENST00000375692.1 + 1 HSPB7_ENST00000311890.9_5'Flank|CLCNKA_ENST00000331433.4_5'Flank|HSPB7_ENST00000375718.4_5'Flank|HSPB7_ENST00000406363.2_5'Flank|HSPB7_ENST00000411503.1_5'Flank|CLCNKA_ENST00000420078.1_5'Flank|CLCNKA_ENST00000439316.2_5'Flank|HSPB7_ENST00000487046.1_5'Flank|HSPB7_ENST00000545268.1_5'Flank|CLCNKA_ENST00000464764.1_Intron P51800 CLCKA_HUMAN chloride voltage-gated channel Ka __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810) chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Niflumic Acid(DB04552) TTAATCTCCATGGTAAACCCC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z30643 HGNC:2026 Approved gene with protein product protein-coding gene "chloride channel Ka", "chloride channel, voltage-sensitive Ka" hClC-Ka 1p36.13 2016-02-04 2016-02-04 ENSG00000186510 8544406 302 Chloride voltage-gated channels CCDS167, CCDS41269, CCDS57973 OTTHUMG00000009529 602024 NM_001042704 P51800 ENSG00000186510 uc001axu.4 B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1187 false 989EPHA2 1969 __UNKNOWN__ hg19 1 16486793 16486793 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16486793A>G ENST00000358432.5 - RP11-276H7.3_ENST00000426353.1_RNA|EPHA2_ENST00000461614.1_5'Flank NM_004431.3 NP_004422.2 P29317 EPHA2_HUMAN EPH receptor A2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032) cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) biliary_tract(2)|breast(201)|central_nervous_system(60)|haematopoietic_and_lymphoid_tissue(158)|kidney(66)|large_intestine(130)|lung(375)|ovary(110)|pancreas(30)|prostate(58)|skin(31)|stomach(134)|testis(13)|upper_aerodigestive_tract(120) 1488 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Dasatinib(DB01254)|Regorafenib(DB08896) CCTGCTCTCAACCAACTGAAC 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M59371 HGNC:3386 Approved gene with protein product protein-coding gene ECK "EphA2" 1p36.13 2016-10-05 2004-10-28 BC037166 2.7.10.1 ENSG00000142627 9119409 NM_004431 760|555|1095 Sterile alpha motif domain containing|Fibronectin type III domain containing|EPH receptors CCDS169 OTTHUMG00000009527 176946 NM_004431 P29317 ENSG00000142627 uc001aya.2 B5A968|Q8N3Z2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1969 false 990ARHGEF19 128272 __UNKNOWN__ hg19 1 16524869 16524869 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16524869T>C ENST00000270747.3 - 16 ARHGEF19_ENST00000478117.1_Intron NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor 19 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060) GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGAAACTATCCTTGGCCTT 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC040640 HGNC:26604 Approved gene with protein product protein-coding gene "Rho guanine nucleotide exchange factor (GEF) 19" FLJ33962, WGEF 1p36.13 2017-07-14 2015-11-09 BC012982 ENSG00000142632 19503838 NM_153213 722 Rho guanine nucleotide exchange factors CCDS170 OTTHUMG00000002219 612496 NM_153213 Q8IW93 ENSG00000142632 uc001ayc.1 A6NJ04|Q5TEV2|Q6PJQ4|Q8N244 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 128272 false 991FBXO42 54455 __UNKNOWN__ hg19 1 16574316 16574316 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16574316T>C ENST00000375592.3 - 10 NM_018994.1 NP_061867.1 Q6P3S6 FBX42_HUMAN F-box protein 42 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 303 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCTCTGCTGTATAACCTGTG 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC063864 HGNC:29249 Approved gene with protein product protein-coding gene KIAA1332, Fbx42 1p36.13 2016-10-05 BC063864 ENSG00000037637 10718198 560 F-boxes other CCDS30613 OTTHUMG00000002218 609109 NM_018994 Q6P3S6 ENSG00000037637 uc001ayg.4 B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54455 false 992NECAP2 55707 __UNKNOWN__ hg19 1 16785394 16785394 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16785394C>T ENST00000504551.2 + 6 NECAP2_ENST00000337132.5_3'UTR|NECAP2_ENST00000406746.1_3'UTR|NECAP2_ENST00000443980.2_Missense_Mutation_p.T242M|NECAP2_ENST00000457722.2_3'UTR|RP4-798A10.2_ENST00000457898.1_5'Flank Q9NVZ3 NECP2_HUMAN NECAP endocytosis associated 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endocytosis (GO:0006897)|protein transport (GO:0015031) clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|intracellular (GO:0005622)|plasma membrane (GO:0005886) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCTGAGCACGGTTTTTCCT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL669962 HGNC:25528 Approved gene with protein product protein-coding gene FLJ10420 1p36.13 2014-11-19 AK021938 ENSG00000157191 14555962, 15494011 NM_018090 CCDS173, CCDS44066, CCDS44067 OTTHUMG00000002313 611624 NM_001145277 Q9NVZ3 ENSG00000157191 uc001ayo.4 B4DY19|E9PGQ8|Q5VSU4|Q5VSU5|Q9H7L1|Q9H8L1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55707 false 993CROCCP3 114819 __UNKNOWN__ hg19 1 16809796 16809796 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16809796T>G ENST00000263511.4 - c.e10+14A>C Q8IVE0 CROL2_HUMAN ciliary rootlet coiled-coil, rootletin pseudogene 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centrosome organization (GO:0051297) ciliary rootlet (GO:0035253) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGGAGCTCTTTGGCGCTCC 0.5860349127182045 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:29405 Approved pseudogene pseudogene CROCCL2 "ciliary rootlet coiled-coil, rootletin-like 2" KIAA1922 1p36.13 2014-11-19 2010-07-08 2010-07-08 AB067509 ENSG00000080947 11572484 XM_057040 OTTHUMG00000037885 NR_023386 Q8IVE0 ENSG00000080947 Q96PW6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 114819 false 994RP4-798A10.4 __UNKNOWN__ hg19 1 16847832 16847832 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:16847832T>C ENST00000452795.2 + c.e2-227T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTGGCAGGGTCTCTGGCGCA 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 995MFAP2 4237 __UNKNOWN__ hg19 1 17311190 17311190 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17311190A>G ENST00000375535.3 - MFAP2_ENST00000438542.1_5'Flank|RP1-37C10.3_ENST00000446261.1_RNA|MFAP2_ENST00000490075.1_5'Flank P55001 MFAP2_HUMAN microfibril associated protein 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular matrix organization (GO:0030198)|platelet formation (GO:0030220) extracellular region (GO:0005576)|microfibril (GO:0001527) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCACCCTGAACCGTCGCTGG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U19718 HGNC:7033 Approved gene with protein product protein-coding gene "microfibrillar associated protein 2" MAGP, MAGP-1 "microfibril-associated glycoprotein-1" 1p36.13 2017-05-16 2017-05-16 BC015039 ENSG00000117122 7759096 NM_002403 CCDS174, CCDS44071 OTTHUMG00000002290 156790 NM_001135247 P55001 ENSG00000117122 uc057csz.1 Q53X60|Q5JXY0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4237 false 996ATP13A2 23400 __UNKNOWN__ hg19 1 17312485 17312485 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17312485C>T ENST00000326735.8 - 29 ATP13A2_ENST00000452699.1_3'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.V1158M|RP1-37C10.3_ENST00000446261.1_RNA Q9NQ11 AT132_HUMAN ATPase 13A2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell death (GO:0008219)|cellular response to manganese ion (GO:0071287) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|lung(2)|pancreas(22) 180 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTGCTACACTGACAGCAGC 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:30213 Approved gene with protein product protein-coding gene PARK9 "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)", "ATPase type 13A2" HSA9947, CLN12 1p36.13 2017-03-24 2016-02-11 AL354615 ENSG00000159363 15381061, 16964263 NM_022089 672|1213 Parkinson disease associated genes|ATPase orphan transporters CCDS175, CCDS44072, CCDS44073 OTTHUMG00000002293 610513 NM_001141973 Q9NQ11 ENSG00000159363 uc001baa.3 O75700|Q5JXY1|Q5JXY2|Q6S9Z9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23400 false 997ATP13A2 23400 __UNKNOWN__ hg19 1 17312586 17312586 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17312586G>A ENST00000326735.8 - 29 ATP13A2_ENST00000452699.1_3'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.P1124L|RP1-37C10.3_ENST00000446261.1_RNA Q9NQ11 AT132_HUMAN ATPase 13A2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell death (GO:0008219)|cellular response to manganese ion (GO:0071287) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|lung(2)|pancreas(22) 180 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGTGGTCTCGGGGGAGGAGT 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:30213 Approved gene with protein product protein-coding gene PARK9 "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)", "ATPase type 13A2" HSA9947, CLN12 1p36.13 2017-03-24 2016-02-11 AL354615 ENSG00000159363 15381061, 16964263 NM_022089 672|1213 Parkinson disease associated genes|ATPase orphan transporters CCDS175, CCDS44072, CCDS44073 OTTHUMG00000002293 610513 NM_001141973 Q9NQ11 ENSG00000159363 uc001baa.3 O75700|Q5JXY1|Q5JXY2|Q6S9Z9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23400 false 998ATP13A2 23400 __UNKNOWN__ hg19 1 17312596 17312596 + 3'UTR SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17312596T>A ENST00000326735.8 - 29 ATP13A2_ENST00000452699.1_3'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.T1121S|RP1-37C10.3_ENST00000446261.1_RNA Q9NQ11 AT132_HUMAN ATPase 13A2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell death (GO:0008219)|cellular response to manganese ion (GO:0071287) integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|lung(2)|pancreas(22) 180 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGGAGGAGTGTAGACAGTC 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:30213 Approved gene with protein product protein-coding gene PARK9 "Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)", "ATPase type 13A2" HSA9947, CLN12 1p36.13 2017-03-24 2016-02-11 AL354615 ENSG00000159363 15381061, 16964263 NM_022089 672|1213 Parkinson disease associated genes|ATPase orphan transporters CCDS175, CCDS44072, CCDS44073 OTTHUMG00000002293 610513 NM_001141973 Q9NQ11 ENSG00000159363 uc001baa.3 O75700|Q5JXY1|Q5JXY2|Q6S9Z9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23400 false 999PADI2 11240 __UNKNOWN__ hg19 1 17395480 17395480 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17395480G>A ENST00000375486.4 - 16 PADI2_ENST00000444885.2_3'UTR|PADI2_ENST00000466151.1_Intron NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327) calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(11)|central_nervous_system(22)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 161 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GGCTCTGGGCGTGTGAGGGAG 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC009701 HGNC:18341 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type II" KIAA0994, PDI2 1p36.13 2016-10-05 2016-04-06 AB030176 3.5.3.15 ENSG00000117115 2768262 677 Peptidyl arginine deiminases CCDS177 OTTHUMG00000002295 607935 NM_007365 Q9Y2J8 ENSG00000117115 uc001baf.4 Q96DA7|Q9UPN2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11240 false 1000PADI2 11240 __UNKNOWN__ hg19 1 17395521 17395521 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17395521G>A ENST00000375486.4 - 16 PADI2_ENST00000444885.2_3'UTR|PADI2_ENST00000466151.1_Intron NM_007365.2 NP_031391.2 Q9Y2J8 PADI2_HUMAN peptidyl arginine deiminase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin-mediated maintenance of transcription (GO:0048096)|histone H3-R26 citrullination (GO:0036413)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of lymphocyte chemotaxis (GO:1901624)|protein citrullination (GO:0018101)|regulation of chromatin disassembly (GO:0010848)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|transcriptionally active chromatin (GO:0035327) calcium ion binding (GO:0005509)|estrogen receptor binding (GO:0030331)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(11)|central_nervous_system(22)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 161 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GGAGGCAAACGCCAGGGCCCC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC009701 HGNC:18341 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type II" KIAA0994, PDI2 1p36.13 2016-10-05 2016-04-06 AB030176 3.5.3.15 ENSG00000117115 2768262 677 Peptidyl arginine deiminases CCDS177 OTTHUMG00000002295 607935 NM_007365 Q9Y2J8 ENSG00000117115 uc001baf.4 Q96DA7|Q9UPN2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11240 false 1001RP11-380J14.1 __UNKNOWN__ hg19 1 17521274 17521274 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17521274G>A ENST00000412427.1 + c.e3+1488G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCAGATGACGCTAGGTGCCC 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1002PADI4 23569 __UNKNOWN__ hg19 1 17634718 17634718 + START_CODON_SNP SNP A A G 141280036 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17634718A>G ENST00000375448.4 + 1 27 c.1A>G c.(1-3)Atg>Gtg p.M1V PADI4_ENST00000375453.1_START_CODON_SNP_p.M1V NM_012387.2 NP_036519.2 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|histone citrullination (GO:0036414)|histone H3-R26 citrullination (GO:0036413)|innate immune response (GO:0045087)|nucleosome assembly (GO:0006334)|protein citrullination (GO:0018101)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) arginine deiminase activity (GO:0016990)|calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22)|urinary_tract(1) 70 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) TAGCCCGACGATGGCCCAGGG 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC025718 HGNC:18368 Approved gene with protein product protein-coding gene PADI5 "peptidyl arginine deiminase, type V", "peptidyl arginine deiminase, type IV" PAD, PDI5, PDI4 1p36.13 2016-04-06 2016-04-06 AB017919 3.5.3.15 ENSG00000159339 10488123 NM_012387 677 Peptidyl arginine deiminases CCDS180 OTTHUMG00000002371 605347 NM_012387 Q9UM07 ENSG00000159339 uc001baj.3 A8K392|B2RBW0|Q5VTZ8|Q70SX4 true false 0.9998,0.0001997 false false 0 false false false PADI4:23569 false true false false true false false false false false false true false false false false false false false true false true 0 false 0 false 0.999176,0.000824232 false false false SNV 0x050200000a05040426000100 1 false 134 rs141280036 23569 17634718 true 1003PADI6 353238 __UNKNOWN__ hg19 1 17698750 17698750 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17698750G>A ENST00000434762.2 + c.e1+59G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GATGGTCAGCGTGGAGGGCCG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1004PADI6 353238 __UNKNOWN__ hg19 1 17699676 17699676 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17699676C>T ENST00000434762.2 + c.e2-52C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) TCTGATCCCACGTACGCCACA 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1005PADI6 353238 __UNKNOWN__ hg19 1 17699720 17699720 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17699720G>A ENST00000434762.2 + c.e2-8G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) TTCCGTGGATGCGGATAAGGT 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1006PADI6 353238 __UNKNOWN__ hg19 1 17701961 17701961 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17701961G>A ENST00000434762.2 + c.e3-33G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GGATGCCCCCGTGGGCACAGC 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1007PADI6 353238 __UNKNOWN__ hg19 1 17706442 17706442 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17706442G>A ENST00000434762.2 + c.e4+27G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GACATCTACCGCAATGGGCAA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1008PADI6 353238 __UNKNOWN__ hg19 1 17714864 17714864 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17714864T>C ENST00000434762.2 + c.e7-12T>C Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CCATCCCTTCTTTCTCTCCTA 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1009PADI6 353238 __UNKNOWN__ hg19 1 17714971 17714971 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17714971G>A ENST00000434762.2 + c.e7-83G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GACTTTCTACGTTGAAGCTAT 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1010PADI6 353238 __UNKNOWN__ hg19 1 17715015 17715015 + RNA SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17715015C>G ENST00000434762.2 + c.e7-39C>G Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CAGGCCTCATCTCCTACTCTG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1011PADI6 353238 __UNKNOWN__ hg19 1 17715081 17715081 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17715081C>T ENST00000434762.2 + c.e7+27C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GATGGGTCCTCAGACTAGGAT 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1012PADI6 353238 __UNKNOWN__ hg19 1 17719843 17719843 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17719843T>C ENST00000434762.2 + c.e10-628T>C Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CTGGCTAAGATGTAGGGAACA 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1013PADI6 353238 __UNKNOWN__ hg19 1 17720515 17720515 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17720515G>A ENST00000434762.2 + c.e10+44G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) ACAAGACAACGTCCTTGATCC 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1014PADI6 353238 __UNKNOWN__ hg19 1 17720542 17720542 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17720542C>T ENST00000434762.2 + c.e10-36C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CACCTCAGGCCGCCGATCTCG 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1015PADI6 353238 __UNKNOWN__ hg19 1 17720545 17720545 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17720545C>T ENST00000434762.2 + c.e10-33C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CTCAGGCCGCCGATCTCGATG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1016PADI6 353238 __UNKNOWN__ hg19 1 17721453 17721453 + RNA SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17721453G>C ENST00000434762.2 + c.e12+6G>C Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CTAGCGCAGAGGGCCGGGCCA 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1017PADI6 353238 __UNKNOWN__ hg19 1 17722110 17722110 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17722110C>T ENST00000434762.2 + c.e13-49C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) AAGGCTATGGCGACGCTCTTC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1018PADI6 353238 __UNKNOWN__ hg19 1 17722113 17722113 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17722113C>T ENST00000434762.2 + c.e13-46C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GCTATGGCGACGCTCTTCTGT 0.513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1019PADI6 353238 __UNKNOWN__ hg19 1 17722363 17722363 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17722363G>A ENST00000434762.2 + c.e13+204G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GGGATGGCCTGGAGGCTGTTT 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1020PADI6 353238 __UNKNOWN__ hg19 1 17722363 17722363 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17722363G>A ENST00000434762.2 + c.e13+204G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) GGGATGGCCTGGAGGCTGTTT 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1021PADI6 353238 __UNKNOWN__ hg19 1 17723586 17723586 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17723586C>T ENST00000434762.2 + c.e14+19C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CCAAAACCATCGACCAACTTC 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1022PADI6 353238 __UNKNOWN__ hg19 1 17723587 17723587 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17723587G>A ENST00000434762.2 + c.e14+20G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CAAAACCATCGACCAACTTCT 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1023PADI6 353238 __UNKNOWN__ hg19 1 17727811 17727811 + RNA SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17727811G>C ENST00000434762.2 + c.e16+110G>C Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) TGGAGCCCCTGGGCTTCAAGT 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1024PADI6 353238 __UNKNOWN__ hg19 1 17727838 17727838 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17727838C>T ENST00000434762.2 + c.e16+137C>T Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) TCATCAATGACTTTGACTGTT 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1025PADI6 353238 __UNKNOWN__ hg19 1 17727860 17727860 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17727860G>A ENST00000434762.2 + c.e16+159G>A Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) CCTGACAGAGGTCGGAGACAT 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1026PADI6 353238 __UNKNOWN__ hg19 1 17728119 17728119 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:17728119A>G ENST00000434762.2 + c.e16-76A>G Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143) cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|pancreas(22) 113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Citrulline(DB00155) TTGAACCCCTATGGGGAAAAG 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:20449 Approved gene with protein product protein-coding gene "peptidyl arginine deiminase, type VI" 1p36.13 2016-04-06 2016-04-06 AY422079 3.5.3.15 ENSG00000276747 15087120 NM_207421 677 Peptidyl arginine deiminases CCDS72715 OTTHUMG00000002372 610363 NM_207421 Q6TGC4 ENSG00000276747 uc031trf.2 Q330K5|Q70SX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353238 false 1027RP11-473A10.2 __UNKNOWN__ hg19 1 18046287 18046287 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:18046287G>T ENST00000430540.1 + c.e2+1072G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATATCATGCGCCTCTATAAG 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1028RP11-473A10.2 __UNKNOWN__ hg19 1 18054323 18054323 + RNA SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:18054323A>C ENST00000430540.1 + c.e3+6060A>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCCTCCTTACTTCCCTCCC 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1029RP11-473A10.2 __UNKNOWN__ hg19 1 18060436 18060436 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:18060436C>T ENST00000430540.1 + c.e3+12173C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCATCAAACGCCGCGTGAT 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1030RP11-473A10.2 __UNKNOWN__ hg19 1 18065643 18065643 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:18065643T>C ENST00000430540.1 + c.e4-10529T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTCCAGGCTCTCAGCAACC 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1031RP11-473A10.2 __UNKNOWN__ hg19 1 18069118 18069118 + RNA SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:18069118T>G ENST00000430540.1 + c.e4-7054T>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAGACCAGGTTTCTGCAAAC 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1032RP11-174G17.2 __UNKNOWN__ hg19 1 18392608 18392608 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:18392608C>T ENST00000569711.1 + c.e1+267C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTACCAGCTCAGAGAAGTGG 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1033RP11-174G17.2 __UNKNOWN__ hg19 1 18399535 18399535 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:18399535G>A ENST00000569711.1 + c.e3+821G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGGAAAAATGTTGCCAGGCG 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1034ALDH4A1 8659 __UNKNOWN__ hg19 1 19198064 19198064 + 3'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198064T>G ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_3'UTR|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATGACACATATCCTGGAAG 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1035ALDH4A1 8659 __UNKNOWN__ hg19 1 19198100 19198100 + 3'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198100C>G ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_3'UTR|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCAGCCCAGCTGGCACCAGC 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1036ALDH4A1 8659 __UNKNOWN__ hg19 1 19198166 19198166 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198166G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_3'UTR|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGCTCCGGGTGGGGTCCCA 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1037ALDH4A1 8659 __UNKNOWN__ hg19 1 19198299 19198299 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198299G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGGAATCGTGGTCACAGA 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1038ALDH4A1 8659 __UNKNOWN__ hg19 1 19198414 19198414 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198414G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATGCTGACGAACCCAAGGC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1039ALDH4A1 8659 __UNKNOWN__ hg19 1 19198576 19198576 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198576A>G ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAGGATCAAAGGGAAGGCT 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1040ALDH4A1 8659 __UNKNOWN__ hg19 1 19198627 19198627 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198627G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAATCACGGCCTAAACCG 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1041ALDH4A1 8659 __UNKNOWN__ hg19 1 19198637 19198637 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198637G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCTAAACCGGCAGGACCAT 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1042ALDH4A1 8659 __UNKNOWN__ hg19 1 19198837 19198837 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198837T>C ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGAGGAAGGTAGACAGCCCA 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1043ALDH4A1 8659 __UNKNOWN__ hg19 1 19198895 19198895 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198895A>G ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCACAGGTCAGTCTGAGTTA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1044ALDH4A1 8659 __UNKNOWN__ hg19 1 19198972 19198972 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19198972G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGAGGTTTGCCAAGGGGCC 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1045ALDH4A1 8659 __UNKNOWN__ hg19 1 19199067 19199067 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19199067G>A ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCAGTGGAGGGCAGAGGGA 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1046ALDH4A1 8659 __UNKNOWN__ hg19 1 19199217 19199217 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19199217A>G ENST00000375341.3 - 15 ALDH4A1_ENST00000290597.5_Intron|ALDH4A1_ENST00000538309.1_3'UTR|ALDH4A1_ENST00000538839.1_3'UTR|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGGAGTCAAGCCCGGATTA 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1047ALDH4A1 8659 __UNKNOWN__ hg19 1 19229092 19229092 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19229092G>A ENST00000375341.3 - 1 ALDH4A1_ENST00000290597.5_5'Flank|ALDH4A1_ENST00000538839.1_5'Flank|RP13-279N23.2_ENST00000494072.3_Intron NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281) mitochondrial matrix (GO:0005759) 1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGTCCAGAGCGCACCACCTCG 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U24267 HGNC:406 Approved gene with protein product protein-coding gene ALDH4 "aldehyde dehydrogenase 4 family, member A1" P5CDh 1p36.13 2016-10-05 2015-11-18 U24266 1.5.1.12 ENSG00000159423 8621661 398 Aldehyde dehydrogenases CCDS188, CCDS53272, CCDS81273 OTTHUMG00000002443 606811 NM_001161504 P30038 ENSG00000159423 uc001bbc.4 A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8659 false 1048MRTO4 51154 __UNKNOWN__ hg19 1 19578192 19578192 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19578192G>A ENST00000330263.4 + 1 EMC1_ENST00000356068.2_5'Flank|EMC1_ENST00000375199.3_5'Flank|EMC1_ENST00000375208.3_5'Flank|EMC1_ENST00000477853.1_5'Flank|MRTO4_ENST00000493700.1_5'Flank NM_016183.3 NP_057267.2 Q9UKD2 MRT4_HUMAN MRT4 homolog, ribosome maturation factor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ribosome biogenesis (GO:0042254) nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGGCGGCTTGGCAGGGAGAG 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(192;2418 3032 7540 48714) CH471134 HGNC:18477 Approved gene with protein product protein-coding gene C1orf33 "chromosome 1 open reading frame 33", "MRT4, mRNA turnover 4, homolog (S. cerevisiae)", "mRNA turnover 4 homolog (S. cerevisiae)" dJ657E11.4, MRT4 1p36.13 2015-07-02 2007-01-05 2015-07-02 AK027569 ENSG00000053372 20083226 NM_016183 CCDS191 OTTHUMG00000002496 NM_016183 Q9UKD2 ENSG00000053372 uc001bbs.4 B3KNB3|Q5TG55|Q96SS6|Q9BPV9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51154 false 1049AKR7L 246181 __UNKNOWN__ hg19 1 19593199 19593199 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19593199T>C ENST00000420396.2 - 5 Q8NHP1 ARK74_HUMAN aldo-keto reductase family 7 like (gene/pseudogene) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062) oxidoreductase activity (GO:0016491) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTTACTTATTGGCTATTAT 0.3765586034912718 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC035351 HGNC:24056 Approved gene with protein product protein-coding gene "aldo-keto reductase family 7-like" AFAR3 1p36.13 2017-02-09 2016-06-03 ENSG00000211454 12879023 NM_201252 OTTHUMG00000002520 608478 NR_040288 Q8NHP1 ENSG00000211454 uc057cwi.1 Q5U614 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 246181 false 1050MINOS1 440574 __UNKNOWN__ hg19 1 19922387 19922387 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19922387C>T ENST00000322753.6 + MINOS1-NBL1_ENST00000602662.1_5'Flank|RP5-1056L3.1_ENST00000416470.1_RNA|MINOS1_ENST00000486890.1_5'Flank NM_001204083.1 NP_001191012.1 Q5TGZ0 MIC10_HUMAN mitochondrial inner membrane organizing system 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCATACAACCTACACACAT 0.39900249376558605 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC070388 HGNC:32068 Approved gene with protein product protein-coding gene C1orf151 "chromosome 1 open reading frame 151" RP5-1056L3.2, FLJ36999, MIO10, Mic10 1p36.13 2015-06-01 2011-10-04 2011-10-04 AK094318 ENSG00000173436 21944719 NM_001032363 CCDS30620, CCDS72719 OTTHUMG00000002712 616574 NM_001032363 Q5TGZ0 ENSG00000173436 uc001bci.3 Q96G68 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 440574 false 1051MINOS1 440574 __UNKNOWN__ hg19 1 19954014 19954014 + 3'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:19954014G>T ENST00000322753.6 + 4 MINOS1-NBL1_ENST00000602662.1_Intron NM_001204083.1 NP_001191012.1 Q5TGZ0 MIC10_HUMAN mitochondrial inner membrane organizing system 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGAAGAGAGGTGTAGGCAA 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC070388 HGNC:32068 Approved gene with protein product protein-coding gene C1orf151 "chromosome 1 open reading frame 151" RP5-1056L3.2, FLJ36999, MIO10, Mic10 1p36.13 2015-06-01 2011-10-04 2011-10-04 AK094318 ENSG00000173436 21944719 NM_001032363 CCDS30620, CCDS72719 OTTHUMG00000002712 616574 NM_001032363 Q5TGZ0 ENSG00000173436 uc001bci.3 Q96G68 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 440574 false 1052TMCO4 255104 __UNKNOWN__ hg19 1 20008880 20008880 + 3'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20008880G>T ENST00000294543.6 - 16 TMCO4_ENST00000375127.1_3'UTR|TMCO4_ENST00000375122.2_3'UTR|TMCO4_ENST00000489814.1_Intron NM_181719.4 NP_859070.3 Q5TGY1 TMCO4_HUMAN transmembrane and coiled-coil domains 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTGTTAGTGGTGTCCAGAT 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX640987 HGNC:27393 Approved gene with protein product protein-coding gene DKFZp686C23231 1p36.13 2014-11-19 ENSG00000162542 NM_181719 CCDS198 OTTHUMG00000002697 NM_181719 Q5TGY1 ENSG00000162542 uc001bcn.3 Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 255104 false 1053RNF186 54546 __UNKNOWN__ hg19 1 20142681 20142681 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20142681A>G ENST00000375121.2 - RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTCCATGGAGCAGGACCTT 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457228 HGNC:25978 Approved gene with protein product protein-coding gene FLJ20225 "hypothetical protein FLJ20225" 1p36.13 2014-11-19 ENSG00000178828 12477932 NM_019062 58 Ring finger proteins CCDS199 OTTHUMG00000002709 617163 NM_019062 Q9NXI6 ENSG00000178828 uc001bcr.3 Q53GE0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54546 false 1054RNF186 54546 __UNKNOWN__ hg19 1 20142866 20142866 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20142866C>T ENST00000375121.2 - RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCAAATGGCGGGGTGGCAT 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457228 HGNC:25978 Approved gene with protein product protein-coding gene FLJ20225 "hypothetical protein FLJ20225" 1p36.13 2014-11-19 ENSG00000178828 12477932 NM_019062 58 Ring finger proteins CCDS199 OTTHUMG00000002709 617163 NM_019062 Q9NXI6 ENSG00000178828 uc001bcr.3 Q53GE0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54546 false 1055RNF186 54546 __UNKNOWN__ hg19 1 20144332 20144332 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20144332G>A ENST00000375121.2 - RP11-91K11.2_ENST00000454736.1_RNA NM_019062.1 NP_061935.1 Q9NXI6 RN186_HUMAN ring finger protein 186 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGGGTCAGGCATTGATGAG 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457228 HGNC:25978 Approved gene with protein product protein-coding gene FLJ20225 "hypothetical protein FLJ20225" 1p36.13 2014-11-19 ENSG00000178828 12477932 NM_019062 58 Ring finger proteins CCDS199 OTTHUMG00000002709 617163 NM_019062 Q9NXI6 ENSG00000178828 uc001bcr.3 Q53GE0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54546 false 1056OTUD3 23252 __UNKNOWN__ hg19 1 20238343 20238343 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20238343A>G ENST00000375120.3 + 8 NM_015207.1 NP_056022.1 Q5T2D3 OTUD3_HUMAN OTU deubiquitinase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein K11-linked deubiquitination (GO:0035871)|protein K6-linked deubiquitination (GO:0044313) ubiquitin-specific protease activity (GO:0004843) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTTACCGCACACCGCTGAT 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC134416 HGNC:29038 Approved gene with protein product protein-coding gene "OTU domain containing 3" KIAA0459, DUBA4 1p36.13 2014-11-19 2014-02-24 AB007928 ENSG00000169914 9455484, 23827681 669 OTU domain containing CCDS41279 OTTHUMG00000002696 611758 NM_015207 Q5T2D3 ENSG00000169914 uc001bcs.5 O75047 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23252 false 1057PLA2G2A 5320 __UNKNOWN__ hg19 1 20301964 20301964 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20301964G>A ENST00000375111.3 - 6 PLA2G2A_ENST00000400520.3_3'UTR|PLA2G2A_ENST00000496748.1_Intron NM_001161727.1 NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2 group IIA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of epithelial cell proliferation (GO:0050680)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidic acid metabolic process (GO:0046473)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|small molecule metabolic process (GO:0044281)|somatic stem cell maintenance (GO:0035019) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|secretory granule (GO:0030141) calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|phospholipase A2 activity (GO:0004623)|phospholipid binding (GO:0005543) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Diclofenac(DB00586)|Ginkgo biloba(DB01381)|Indomethacin(DB00328)|Suramin(DB04786) GAGACCCCCCGGAGTACAGCT 0.5062344139650873 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M22431 HGNC:9031 Approved gene with protein product protein-coding gene PLA2B, PLA2L "phospholipase A2, group IIA (platelets, synovial fluid)" 1p36.13 2016-10-05 2015-11-18 BC005919 3.1.1.4 ENSG00000188257 8838795 NM_000300 467 Phospholipases CCDS201 OTTHUMG00000002699 172411 NM_000300 P14555 ENSG00000188257 uc001bcv.4 A8K5I7|Q6DN24|Q6IBD9|Q9UCD2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5320 false 1058PLA2G2D 26279 __UNKNOWN__ hg19 1 20442071 20442071 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20442071delA ENST00000375105.3 - 3 281 c.221delT c.(220-222)ctgfs p.L74fs NM_012400.3 NP_036532.1 Q9UNK4 PA2GD_HUMAN phospholipase A2 group IID __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ glycerophospholipid biosynthetic process (GO:0046474)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) extracellular region (GO:0005576) calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|skin(31) 121 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGGTCTTCAGGTGGTCATA 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Melanoma(60;742 1548 31762 39240) EU447440 HGNC:9033 Approved gene with protein product protein-coding gene "phospholipase A2, group IID" sPLA2S 1p36.12 2015-11-18 2015-11-18 AF112982 3.1.1.4 ENSG00000117215 10455175 467 Phospholipases CCDS203, CCDS72721 OTTHUMG00000002701 605630 NM_001271814 Q9UNK4 ENSG00000117215 uc001bcz.5 A8K2Z1|B1AEL9|Q9UK01 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26279 false 1059UBXN10 127733 __UNKNOWN__ hg19 1 20520732 20520732 + 3'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20520732T>C ENST00000375099.3 + 2 NM_152376.3 NP_689589.1 Q96LJ8 UBX10_HUMAN UBX domain protein 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAACCTTCATGATAGGTTAC 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98257 HGNC:26354 Approved gene with protein product protein-coding gene UBXD3 "UBX domain containing 3" FLJ25429 1p36.12 2016-10-05 2008-07-25 2008-07-25 AK058158 ENSG00000162543 12477932 NM_152376 364 UBX domain containing CCDS205 OTTHUMG00000002708 616783 NM_152376 Q96LJ8 ENSG00000162543 uc001bdb.4 Q5R386 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127733 false 1060RP3-340N1.6 __UNKNOWN__ hg19 1 20570287 20570287 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20570287G>T ENST00000435552.1 + c.e2-502G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCCAAGAAGTGTTCTCTCC 0.33665835411471323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1061VWA5B1 127731 __UNKNOWN__ hg19 1 20617419 20617419 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20617419T>C ENST00000375079.2 + 1 VWA5B1_ENST00000289815.8_5'UTR|VWA5B1_ENST00000375083.4_5'UTR|VWA5B1_ENST00000289825.4_5'UTR NM_001039500.2 NP_001034589.2 Q5TIE3 VW5B1_HUMAN von Willebrand factor A domain containing 5B1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) salivary_gland(1) 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTATCGCAATGTGGGCATTG 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC101381 HGNC:26538 Approved gene with protein product protein-coding gene FLJ32784 1p36.12 2014-11-19 AK125833, AK057346 ENSG00000158816 XM_001722222 OTTHUMG00000002835 NM_001039500 Q5TIE3 ENSG00000158816 uc057cyt.1 A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127731 false 1062RP4-749H3.1 __UNKNOWN__ hg19 1 20695831 20695831 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20695831T>C ENST00000426428.1 - c.e10-4257A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCAGTGAGTGGGAGCCAGA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1063RP4-749H3.1 __UNKNOWN__ hg19 1 20701277 20701277 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20701277C>T ENST00000426428.1 - c.e10+1046G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTGTATTCTCCAAGGACAAT 0.38154613466334164 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1064RP4-749H3.1 __UNKNOWN__ hg19 1 20705117 20705117 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20705117C>T ENST00000426428.1 - c.e8+192G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGAACCACCGCATCCCCAC 0.48129675810473815 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1065RP4-749H3.1 __UNKNOWN__ hg19 1 20717763 20717763 + RNA SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20717763C>A ENST00000426428.1 - c.e6-7213G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTACCCAGCCCTAAACCCAA 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1066RP4-749H3.1 __UNKNOWN__ hg19 1 20729212 20729212 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20729212T>C ENST00000426428.1 - c.e4+1732A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCAGGAAGTATGCCCCTTC 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1067RP4-749H3.1 __UNKNOWN__ hg19 1 20733376 20733376 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20733376T>C ENST00000426428.1 - c.e2+614A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATCTAAGATTCGACCCCTT 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1068RP4-749H3.1 __UNKNOWN__ hg19 1 20735361 20735361 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20735361G>A ENST00000426428.1 - c.e2+2599C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAAACTCTCGGCAAACTCTC 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1069RP4-749H3.1 __UNKNOWN__ hg19 1 20735452 20735452 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20735452G>A ENST00000426428.1 - c.e2+2690C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCAGGAAGGGCAAAGGTTAA 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1070RP4-749H3.1 __UNKNOWN__ hg19 1 20736532 20736532 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20736532C>T ENST00000426428.1 - c.e2+3770G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCAACCATCGGAGGGACAC 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1071RP4-749H3.1 __UNKNOWN__ hg19 1 20740016 20740016 + RNA SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20740016C>A ENST00000426428.1 - c.e2+7254G>T RP4-749H3.2_ENST00000421114.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGACGGCATCACAGAGGGAA 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1072RP4-749H3.1 __UNKNOWN__ hg19 1 20750561 20750561 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20750561A>G ENST00000426428.1 - c.e1-4516T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTAAACGAAAAAGATAATAT 0.30673316708229426 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1073MUL1 79594 __UNKNOWN__ hg19 1 20826910 20826910 + 3'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20826910G>A ENST00000264198.3 - 4 NM_024544.2 NP_078820.2 Q969V5 MUL1_HUMAN mitochondrial E3 ubiquitin protein ligase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028) cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777) identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCACACTCGCACTGATCTG 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EU935008 HGNC:25762 Approved gene with protein product protein-coding gene C1orf166 "chromosome 1 open reading frame 166" FLJ12875, MULAN, RNF218, MAPL, GIDE "ring finger protein 218", "mitochondria-anchored protein ligase", "growth inhibition and death E3 ligase", "mitochondrial ubiquitin ligase activator of NFKB 1" 1p36.12 2014-11-18 2008-03-26 2010-09-17 BC014010 ENSG00000090432 18591963, 12761501, 18213395, 18207745 NM_024544 58 Ring finger proteins CCDS208 OTTHUMG00000002838 612037 NM_024544 Q969V5 ENSG00000090432 uc001bdi.5 B5M497|Q7Z431|Q9H9B5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79594 false 1074CDA 978 __UNKNOWN__ hg19 1 20915507 20915507 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20915507G>A ENST00000375071.3 + 1 CDA_ENST00000461985.1_5'Flank NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular region (GO:0005576) cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(664)|large_intestine(11)|pancreas(22) 754 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GAGAGCCTGCGGTCTGGCTGC 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(74;49 1356 2772 27818 40529) S52873 HGNC:1712 Approved gene with protein product protein-coding gene CDD 1p36.12 2016-10-05 BC054036 3.5.4.5 ENSG00000158825 8422236, 9878810 NM_001785 CCDS210 OTTHUMG00000002845 123920 NM_001785 P32320 ENSG00000158825 uc001bdk.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 978 false 1075CDA 978 __UNKNOWN__ hg19 1 20915577 20915577 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20915577G>A ENST00000375071.3 + 1 CDA_ENST00000461985.1_5'Flank NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular region (GO:0005576) cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(664)|large_intestine(11)|pancreas(22) 754 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) CAGGCTGGCCGGAGCTCCTGT 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(74;49 1356 2772 27818 40529) S52873 HGNC:1712 Approved gene with protein product protein-coding gene CDD 1p36.12 2016-10-05 BC054036 3.5.4.5 ENSG00000158825 8422236, 9878810 NM_001785 CCDS210 OTTHUMG00000002845 123920 NM_001785 P32320 ENSG00000158825 uc001bdk.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 978 false 1076CDA 978 __UNKNOWN__ hg19 1 20915590 20915590 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20915590C>T ENST00000375071.3 + 1 CDA_ENST00000461985.1_Intron NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular region (GO:0005576) cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(664)|large_intestine(11)|pancreas(22) 754 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GCTCCTGTTTCCCGCTGCTCT 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(74;49 1356 2772 27818 40529) S52873 HGNC:1712 Approved gene with protein product protein-coding gene CDD 1p36.12 2016-10-05 BC054036 3.5.4.5 ENSG00000158825 8422236, 9878810 NM_001785 CCDS210 OTTHUMG00000002845 123920 NM_001785 P32320 ENSG00000158825 uc001bdk.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 978 false 1077CDA 978 __UNKNOWN__ hg19 1 20945251 20945251 + 3'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20945251C>G ENST00000375071.3 + 4 CDA_ENST00000461985.1_Intron NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular region (GO:0005576) cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(664)|large_intestine(11)|pancreas(22) 754 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) AGAACACCGCCGCCCCCTGCC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(74;49 1356 2772 27818 40529) S52873 HGNC:1712 Approved gene with protein product protein-coding gene CDD 1p36.12 2016-10-05 BC054036 3.5.4.5 ENSG00000158825 8422236, 9878810 NM_001785 CCDS210 OTTHUMG00000002845 123920 NM_001785 P32320 ENSG00000158825 uc001bdk.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 978 false 1078CDA 978 __UNKNOWN__ hg19 1 20945252 20945252 + 3'UTR SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20945252G>C ENST00000375071.3 + 4 CDA_ENST00000461985.1_Intron NM_001785.2 NP_001776.1 P32320 CDD_HUMAN cytidine deaminase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|extracellular region (GO:0005576) cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(664)|large_intestine(11)|pancreas(22) 754 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441) GAACACCGCCGCCCCCTGCCC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(74;49 1356 2772 27818 40529) S52873 HGNC:1712 Approved gene with protein product protein-coding gene CDD 1p36.12 2016-10-05 BC054036 3.5.4.5 ENSG00000158825 8422236, 9878810 NM_001785 CCDS210 OTTHUMG00000002845 123920 NM_001785 P32320 ENSG00000158825 uc001bdk.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 978 false 1079PINK1 65018 __UNKNOWN__ hg19 1 20976995 20976995 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20976995delG ENST00000321556.4 + 8 1650 c.1557delG c.(1555-1557)ctgfs p.K520fs PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_Intron NM_032409.2 NP_115785.1 Q9BXM7 PINK1_HUMAN PTEN induced putative kinase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511) astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625) biliary_tract(2)|breast(27)|central_nervous_system(102)|haematopoietic_and_lymphoid_tissue(54)|kidney(46)|large_intestine(71)|lung(53)|ovary(52)|pancreas(22)|salivary_gland(24)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 521 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTAGCCCTGAAGAATCTGA 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Esophageal Squamous(145;853 1803 8146 34412 35011) BC028215 HGNC:14581 Approved gene with protein product protein-coding gene PARK6 "Parkinson disease (autosomal recessive) 6" 1p36.12 2014-11-18 AB053323 ENSG00000158828 11494141, 15349860 NM_032409 672 Parkinson disease associated genes CCDS211 OTTHUMG00000002841 608309 NM_032409 Q9BXM7 ENSG00000158828 uc001bdm.3 Q8N6T9|Q8NBU3|Q96DE4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 65018 false 1080PINK1-AS __UNKNOWN__ hg19 1 20978058 20978058 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20978058G>A ENST00000451424.1 - c.e1-628C>T PINK1 antisense RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATTTCAGTGATTCCCACCC 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:38872 Approved RNA, long non-coding non-coding RNA PINK1-AS1 "PINK1 antisense RNA 1 (non-protein coding)", "PINK1 antisense RNA (non-protein coding)" FLJ00387, PINK1AS, naPINK1 1p36.12 2014-09-24 2012-02-02 2012-08-15 AK090466 ENSG00000117242 17362513 788 Long non-coding RNAs (published) OTTHUMG00000002840 NR_046507 ENSG00000117242 uc031tru.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 100861548 false 1081PINK1-AS __UNKNOWN__ hg19 1 20978058 20978058 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20978058G>A ENST00000451424.1 - c.e1-628C>T PINK1 antisense RNA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATTTCAGTGATTCCCACCC 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:38872 Approved RNA, long non-coding non-coding RNA PINK1-AS1 "PINK1 antisense RNA 1 (non-protein coding)", "PINK1 antisense RNA (non-protein coding)" FLJ00387, PINK1AS, naPINK1 1p36.12 2014-09-24 2012-02-02 2012-08-15 AK090466 ENSG00000117242 17362513 788 Long non-coding RNAs (published) OTTHUMG00000002840 NR_046507 ENSG00000117242 uc031tru.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 100861548 false 1082DDOST 1650 __UNKNOWN__ hg19 1 20987879 20987879 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20987879A>C ENST00000602624.2 - 1 DDOST_ENST00000375048.3_Missense_Mutation_p.C6G|DDOST_ENST00000415136.2_Missense_Mutation_p.C6G|DDOST_ENST00000477229.1_5'Flank P39656 OST48_HUMAN dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|innate immune response (GO:0045087)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|response to cytokine (GO:0034097)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell activation (GO:0042110)|translation (GO:0006412) endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|protein complex (GO:0043234) dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCACGTGCACACCGGAAGTAC 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D89060 HGNC:2728 Approved gene with protein product protein-coding gene "dolichyl-diphosphooligosaccharide-protein glycosyltransferase" OST, KIAA0115, OST48, WBP1, GATD6 "oligosaccharyltransferase subunit 48", "advanced glycation end-product receptor 1" 1p36.12 2017-03-16 2016-03-01 D29643 ENSG00000244038 9367678 NM_005216 445|1408 Oligosaccharyltransferase complex subunits|Glutamine amidotransferase like class 1 domain containing CCDS212 OTTHUMG00000002844 602202 NM_005216 P39656 ENSG00000244038 uc001bdo.1 B2RDQ4|B4DJE3|B4DLI2|O43244|Q5VWA5|Q8NI93|Q9BUI2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1650 false 1083KIF17 57576 __UNKNOWN__ hg19 1 20998553 20998554 + Frame_Shift_Del DEL AG AG - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:20998553_20998554delAG ENST00000247986.2 - 12 2912_2913 c.2599_2600delCT c.(2599-2601)ctgfs p.L867fs KIF17_ENST00000400463.3_Frame_Shift_Del_p.L867fs|KIF17_ENST00000375044.1_Frame_Shift_Del_p.L767fs|KIF17_ENST00000490034.1_Intron Q9P2E2 KIF17_HUMAN kinesin family member 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192) cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGCGAATCAGGGGCTGCACC 0.5696517412935324 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC065927 HGNC:19167 Approved gene with protein product protein-coding gene KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2 "kinesin-like protein KIF17", "KIF3-related motor protein", "KIF17 variant protein" 1p36.12 2016-10-05 AB037826 ENSG00000117245 10846156 NM_020816 622 Kinesins CCDS213, CCDS44079, CCDS72722 OTTHUMG00000002863 605037 NM_001122819 Q9P2E2 ENSG00000117245 uc001bdr.6 A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57576 false 1084SH2D5 400745 __UNKNOWN__ hg19 1 21047725 21047725 + 3'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21047725A>G ENST00000375031.1 - 9 KIF17_ENST00000247986.2_5'Flank|KIF17_ENST00000375044.1_5'Flank|KIF17_ENST00000400463.3_5'Flank|SH2D5_ENST00000460804.1_Intron NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|pancreas(22) 136 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGATACATATGAGAAACAG 0.5810473815461347 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:28819 Approved gene with protein product protein-coding gene 1p36.12 2014-11-19 AK124869, AK123236 ENSG00000189410 XM_375698 CCDS41280, CCDS44080 OTTHUMG00000002620 NM_001103160 Q6ZV89 ENSG00000189410 uc009vpy.2 B7Z3W3|Q5SSJ2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 400745 false 1085ECE1 1889 __UNKNOWN__ hg19 1 21544601 21544601 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21544601C>T ENST00000415912.2 - 19 NM_001113348.1 NP_001106819.1 P42892 ECE1_HUMAN endothelin converting enzyme 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814) early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093) endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(1)|large_intestine(11)|lung(1)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTCTGCTACTGGAGAAGCT 0.6184538653366584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z35307 HGNC:3146 Approved gene with protein product protein-coding gene ECE 1p36.12 2016-10-05 D49471 ENSG00000117298 7805846, 7864876, 17592116 NM_001397 1439 M13 metallopeptidases CCDS215, CCDS44081, CCDS44082, CCDS44083 OTTHUMG00000002625 600423 NM_001113347 P42892 ENSG00000117298 uc001bek.3 A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1889 false 1086RP11-293F5.1 __UNKNOWN__ hg19 1 21742614 21742614 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21742614T>C ENST00000444647.1 + c.e1+186T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTGAGAGATCCCAACAGTC 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1087NBPF3 84224 __UNKNOWN__ hg19 1 21771685 21771685 + 5'UTR SNP C C T 758505231 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21771685C>T ENST00000318220.6 + 2 NBPF3_ENST00000342104.5_Nonsense_Mutation_p.R36*|NBPF3_ENST00000318249.5_Nonsense_Mutation_p.R36*|NBPF3_ENST00000454000.2_Nonsense_Mutation_p.R36*|NBPF3_ENST00000478653.2_Intron Q9H094 NBPF3_HUMAN NBPF member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 211 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGTGGGCCGACATCAAGA 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC024011 HGNC:25076 Approved gene with protein product protein-coding gene "neuroblastoma breakpoint family, member 3" AE2 1p36.12 2017-03-01 2017-03-01 BC024011 ENSG00000142794 11230166, 16079250 NM_032264 662 NBPF members CCDS216, CCDS57976, CCDS57977, CCDS81275 OTTHUMG00000002944 612992 NM_001256416 Q9H094 ENSG00000142794 uc001ber.5 A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96 true false false false false false false NBPF3:84224 false false false false false false false false false false false false true false false false false false false true false false 0 false 0 false false false true SNV 0x050000400605000002000100 1 false 144 rs758505231 84224 21771685 false 1088NBPF3 84224 __UNKNOWN__ hg19 1 21795275 21795275 + Frame_Shift_Del DEL C C - 747818094 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21795275delC ENST00000318220.6 + 6 1107 c.60delC c.(58-60)atcfs p.N21fs NBPF3_ENST00000342104.5_Frame_Shift_Del_p.N77fs|NBPF3_ENST00000318249.5_Frame_Shift_Del_p.N77fs|NBPF3_ENST00000454000.2_Intron Q9H094 NBPF3_HUMAN NBPF member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 211 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTAGAAATCAACAAGAAAT 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC024011 HGNC:25076 Approved gene with protein product protein-coding gene "neuroblastoma breakpoint family, member 3" AE2 1p36.12 2017-03-01 2017-03-01 BC024011 ENSG00000142794 11230166, 16079250 NM_032264 662 NBPF members CCDS216, CCDS57976, CCDS57977, CCDS81275 OTTHUMG00000002944 612992 NM_001256416 Q9H094 ENSG00000142794 uc001ber.5 A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96 true false false false false false false NBPF3:84224 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false 0.999828,0.000171715 false false false DIV 0x050000081205040402000200 1 false 144 rs747818094 84224 21795275 true 1089NBPF3 84224 __UNKNOWN__ hg19 1 21800057 21800058 + Frame_Shift_Ins INS - - C 747645859 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21800057_21800058insC ENST00000318220.6 + 10 1799 c.751_752insC c.(751-753)gatfs p.D251fs NBPF3_ENST00000342104.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000318249.5_Frame_Shift_Ins_p.D307fs|NBPF3_ENST00000454000.2_Frame_Shift_Ins_p.D237fs Q9H094 NBPF3_HUMAN NBPF member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 211 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATGGTTGGATGCTGTATG 0.4525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC024011 HGNC:25076 Approved gene with protein product protein-coding gene "neuroblastoma breakpoint family, member 3" AE2 1p36.12 2017-03-01 2017-03-01 BC024011 ENSG00000142794 11230166, 16079250 NM_032264 662 NBPF members CCDS216, CCDS57976, CCDS57977, CCDS81275 OTTHUMG00000002944 612992 NM_001256416 Q9H094 ENSG00000142794 uc001ber.5 A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96 true false false false false false false NBPF3:84224 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs747645859 84224 21800057 true 1090ALPL 249 __UNKNOWN__ hg19 1 21894605 21894605 + Frame_Shift_Del DEL G G - 769948289 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21894605delG ENST00000374840.3 + 7 906 c.657delG c.(655-657)atgfs p.G221fs ALPL_ENST00000374832.1_Frame_Shift_Del_p.G221fs|ALPL_ENST00000425315.2_Frame_Shift_Del_p.G221fs|ALPL_ENST00000540617.1_Frame_Shift_Del_p.G166fs|ALPL_ENST00000539907.1_Frame_Shift_Del_p.G144fs|ALPL_ENST00000374830.1_5'Flank NM_000478.4 NP_000469.3 P05186 PPBT_HUMAN alkaline phosphatase, liver/bone/kidney __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501) anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462) biliary_tract(2)|breast(11)|central_nervous_system(45)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amifostine(DB01143)|Fospropofol(DB06716) AGGTGATCATGGGGGGTGGCC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X14174 HGNC:438 Approved gene with protein product protein-coding gene HOPS TNSALP 1p36.12 2014-11-18 BC021289 3.1.3.1 ENSG00000162551 3532105, 3446011 NM_000478 1072 Alkaline phosphatases CCDS217, CCDS53274, CCDS53275 OTTHUMG00000002949 171760 NM_000478 P05186 ENSG00000162551 uc001bet.4 A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0 true false false false false false false ALPL:249 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs769948289 249 21894605 false 1091RP11-63N8.3 __UNKNOWN__ hg19 1 21914362 21914362 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21914362C>T ENST00000457706.1 + c.e1+780C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGGAAGGCGGCCCAGGAA 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1092RAP1GAP 5909 __UNKNOWN__ hg19 1 21976289 21976289 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:21976289C>T ENST00000374765.4 - 2 RAP1GAP_ENST00000542643.2_5'UTR|RAP1GAP_ENST00000290101.4_Splice_Site_p.G15G|RAP1GAP_ENST00000374757.3_Splice_Site NM_002885.2 NP_002876.2 P47736 RPGP1_HUMAN RAP1 GTPase activating protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTP catabolic process (GO:0006184)|positive regulation of Rap GTPase activity (GO:0032854)|regulation of Ras GTPase activity (GO:0032318)|signal transduction (GO:0007165) cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|protein homodimerization activity (GO:0042803)|Rap GTPase activator activity (GO:0046582)|Ras GTPase binding (GO:0017016) breast(48)|central_nervous_system(22)|kidney(92)|large_intestine(37)|lung(1) 200 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTGTCCACCCTGAAACACA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M64788 HGNC:9858 Approved gene with protein product protein-coding gene RAP1GA1 "RAP1, GTPase activating protein 1" KIAA0474, RAP1GAP1, RAP1GAPII 1p36.12 2016-10-05 2006-04-12 2006-04-12 BC054490 ENSG00000076864 1904317 NM_002885 CCDS218, CCDS53276, CCDS53277, CCDS81276 OTTHUMG00000007513 600278 NM_001145657 P47736 ENSG00000076864 uc001bex.4 J3QSS6|O75062|Q5T3S9|Q5T3T4|Q7Z5S8|Q9UQ51 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5909 false 1093LINC00339 29092 __UNKNOWN__ hg19 1 22354866 22354866 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:22354866T>C ENST00000416769.1 + c.e2-1907T>C RP1-224A6.3_ENST00000455966.1_5'Flank long intergenic non-protein coding RNA 339 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGGCTGTATCCTAATGTGA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:25011 Approved RNA, long non-coding non-coding RNA NCRNA00339 "non-protein coding RNA 339" HSPC157 1p36.12 2014-11-18 2011-08-10 2011-08-10 ENSG00000218510 11042152 OTTHUMG00000002757 NR_023918 ENSG00000218510 uc284mnl.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 29092 false 1094ZBTB40 9923 __UNKNOWN__ hg19 1 22855441 22855441 + 3'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:22855441C>T ENST00000375647.4 + 18 ZBTB40_ENST00000404138.1_3'UTR NM_014870.3 NP_055685.3 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCAGATGCCCTCTGGCCCAT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL358788 HGNC:29045 Approved gene with protein product protein-coding gene KIAA0478, ZNF923 1p36.12 2016-10-05 AB007947 ENSG00000184677 NM_014870 861|28 BTB domain containing|Zinc fingers C2H2-type CCDS224, CCDS81278 OTTHUMG00000002897 612106 NM_001083621 Q9NUA8 ENSG00000184677 uc001bft.2 O75066|Q5TFU5|Q8N1R1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9923 false 1095LUZP1 7798 __UNKNOWN__ hg19 1 23435538 23435538 + DE_NOVO_START_IN_FRAME SNP G G A 16827981 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23435538G>A ENST00000302291.4 - 3 LUZP1_ENST00000314174.5_Intron|LUZP1_ENST00000418342.1_DE_NOVO_START_IN_FRAME|LUZP1_ENST00000374623.3_DE_NOVO_START_IN_FRAME Q86V48 LUZP1_HUMAN leucine zipper protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281) membrane (GO:0016020)|nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCTTTCCGTCAATACTTC 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC051733 HGNC:14985 Approved gene with protein product protein-coding gene LUZP 1p36.12 2016-10-05 BC051733 ENSG00000169641 8812416 NM_033631 CCDS30628 OTTHUMG00000003227 601422 NM_001142546 Q86V48 ENSG00000169641 uc001bgm.2 Q5TH93|Q8N4X3|Q8TEH1 true false 0.8674,0.1326 false false 1 false true false LUZP1:7798 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.807164,0.192836 false false true SNV 0x050100400005150537000100 1 false 123 rs16827981 7798 23435538 true 1096TCEA3 6920 __UNKNOWN__ hg19 1 23720492 23720492 + Frame_Shift_Del DEL C C - 769709955 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23720492delC ENST00000450454.2 - 8 807 c.699delG c.(697-699)aagfs p.K233fs NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) upper_aerodigestive_tract(1) 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTCCGGTACTTCATGTCCG 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC041613 HGNC:11615 Approved gene with protein product protein-coding gene "transcription elongation factor A (SII), 3" TFIIS.H 1p36.12 2016-10-05 2016-02-15 AJ223473 ENSG00000204219 9790746 NM_003196 CCDS44086 OTTHUMG00000003233 604128 NM_003196 O75764 ENSG00000204219 uc057dfl.1 A8K2K7|Q5DR83 true false false false false false false TCEA3:6920 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs769709955 6920 23720492 true 1097TCEA3 6920 __UNKNOWN__ hg19 1 23751126 23751126 + START_CODON_SNP SNP T T A 200503010 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23751126T>A ENST00000450454.2 - 1 108 c.1A>T c.(1-3)Atg>Ttg p.M1L TCEA3_ENST00000374601.3_START_CODON_SNP_p.M1L NM_003196.1 NP_003187.1 O75764 TCEA3_HUMAN transcription elongation factor A3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) upper_aerodigestive_tract(1) 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTGGCCCATGTTGGCCCGC 0.7506234413965087 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC041613 HGNC:11615 Approved gene with protein product protein-coding gene "transcription elongation factor A (SII), 3" TFIIS.H 1p36.12 2016-10-05 2016-02-15 AJ223473 ENSG00000204219 9790746 NM_003196 CCDS44086 OTTHUMG00000003233 604128 NM_003196 O75764 ENSG00000204219 uc057dfl.1 A8K2K7|Q5DR83 true false false false false false false TCEA3:6920 false true false false false false false false false false false true false false false false false false false true false true 0 false 0 false 0.999794,0.000171715,3.4343e-005 false false false SNV 0x050200000a05040402000100 1 false 137 rs200503010 6920 23751126 true 1098ASAP3 55616 __UNKNOWN__ hg19 1 23756350 23756350 + Nonstop_Mutation SNP T T C 148021104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:23756350T>C ENST00000336689.3 - 25 2756 c.2711A>G c.(2710-2712)tAg>tGg p.*904W ASAP3_ENST00000437606.2_Nonstop_Mutation_p.*895W|ASAP3_ENST00000495646.1_Nonstop_Mutation_p.*408W NM_017707.3 NP_060177.2 Q8TDY4 ASAP3_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell migration (GO:0016477)|positive regulation of ARF GTPase activity (GO:0032850)|regulation of stress fiber assembly (GO:0051492) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|ruffle (GO:0001726) ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAAGGAGCTAGTCTTGCAA 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:14987 Approved gene with protein product protein-coding gene DDEFL1 "development and differentiation enhancing factor-like 1" FLJ20199, UPLC1, CENTB6 "centaurin, beta 6" 1p36.12 2016-10-05 2008-09-22 2008-10-09 AK000206 ENSG00000088280 14654939 NM_017707 403|682|395|1291 Ankyrin repeat domain containing|Pleckstrin homology domain containing|ArfGAPs|BAR-PH domain containing CCDS235, CCDS44087 OTTHUMG00000003234 616594 NM_001143778 Q8TDY4 ENSG00000088280 uc001bha.3 B3KRW0|B4DHH4|Q6P9F4|Q86UY1|Q9NXK2 true false false false false false false ASAP3:55616 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000205000402000100 1 false 134 rs148021104 55616 23756350 false 1099PITHD1 57095 __UNKNOWN__ hg19 1 24100223 24100223 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24100223C>T ENST00000246151.4 + RP5-886K2.3_ENST00000427796.1_RNA|RP5-886K2.3_ENST00000447961.1_5'Flank NM_020362.4 NP_065095.2 Q9GZP4 PITH1_HUMAN PITH domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGGAAGGGCCTTGTGTCCA 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:25022 Approved gene with protein product protein-coding gene C1orf128 "chromosome 1 open reading frame 128", "PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1" HT014, TXNL1CL "TXNL1 C-terminal like" 1p36.11 2016-04-06 2011-02-21 2016-04-06 ENSG00000057757 12477932 NM_020362 CCDS240 OTTHUMG00000002960 NM_020362 Q9GZP4 ENSG00000057757 uc001bhq.4 B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57095 false 1100CNR2 1269 __UNKNOWN__ hg19 1 24201028 24201028 + Frame_Shift_Del DEL G G - 758031503 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24201028delG ENST00000374472.4 - 2 1243 c.1080delC c.(1078-1080)tgcfs p.*361fs CNR2_ENST00000536471.1_Frame_Shift_Del_p.*361fs NM_001841.2 NP_001832.1 P34972 CNR2_HUMAN cannabinoid receptor 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233) dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) cannabinoid receptor activity (GO:0004949) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Dronabinol(DB00470)|Nabilone(DB00486) GGCCTCATCAGCAATCAGAGA 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X74328 HGNC:2160 Approved gene with protein product protein-coding gene "cannabinoid receptor 2 (macrophage)" CB2 1p36.11 2016-10-05 2015-11-06 X74328 ENSG00000188822 NM_001841 202 Cannabinoid receptors CCDS245 OTTHUMG00000013892 605051 NM_001841 P34972 ENSG00000188822 uc001bif.4 C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0 true false false false false false false CNR2:1269 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs758031503 1269 24201028 true 1101RP11-293P20.2 __UNKNOWN__ hg19 1 24372971 24372971 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24372971C>T ENST00000439239.2 + c.e2+4136C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGACTGTATCCGCCCACATT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1102RP11-293P20.2 __UNKNOWN__ hg19 1 24377326 24377326 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24377326T>C ENST00000439239.2 + c.e2+8491T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGGCCTGCTCCAGCTCCAG 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1103RP11-293P20.2 __UNKNOWN__ hg19 1 24379601 24379601 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24379601T>C ENST00000439239.2 + c.e2+10766T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTAGTCCATGTTGTGTTGCTA 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1104MYOM3 127294 __UNKNOWN__ hg19 1 24389632 24389632 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24389632delT ENST00000374434.3 - 32 3918 c.3754delA c.(3754-3756)accfs p.T1252fs MYOM3_ENST00000338909.5_Frame_Shift_Del_p.T145fs|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.T1255fs|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_5'Flank NM_152372.3 NP_689585.3 Q5VTT5 MYOM3_HUMAN myomesin 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M band (GO:0031430) protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|lung(2)|pancreas(22) 196 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCAGGTGGTTTTCATGTAC 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:26679 Approved gene with protein product protein-coding gene "myomesin family, member 3" FLJ35961 1p36.11 2016-10-05 2012-10-17 AK093280 ENSG00000142661 18177667 NM_152372 555|593|658|594 Fibronectin type III domain containing|I-set domain containing|Myosin binding proteins|Immunoglobulin like domain containing CCDS41281 OTTHUMG00000002969 616832 NM_152372 Q5VTT5 ENSG00000142661 uc001bin.5 A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127294 false 1105MYOM3 127294 __UNKNOWN__ hg19 1 24390613 24390613 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24390613delC ENST00000374434.3 - 30 3735 c.3571delG c.(3571-3573)gttfs p.V1191fs MYOM3_ENST00000338909.5_Frame_Shift_Del_p.V84fs|MYOM3_ENST00000330966.7_Frame_Shift_Del_p.V1194fs|RP11-293P20.2_ENST00000439239.2_RNA|RP11-293P20.4_ENST00000429191.1_5'Flank NM_152372.3 NP_689585.3 Q5VTT5 MYOM3_HUMAN myomesin 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M band (GO:0031430) protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|lung(2)|pancreas(22) 196 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGTCAGAAACCATCGCTCTG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:26679 Approved gene with protein product protein-coding gene "myomesin family, member 3" FLJ35961 1p36.11 2016-10-05 2012-10-17 AK093280 ENSG00000142661 18177667 NM_152372 555|593|658|594 Fibronectin type III domain containing|I-set domain containing|Myosin binding proteins|Immunoglobulin like domain containing CCDS41281 OTTHUMG00000002969 616832 NM_152372 Q5VTT5 ENSG00000142661 uc001bin.5 A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127294 false 1106RP11-10N16.2 __UNKNOWN__ hg19 1 24527095 24527095 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24527095T>C ENST00000439059.2 + c.e1+214T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGATGTATTGAAAGATTTG 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1107RP11-10N16.2 __UNKNOWN__ hg19 1 24531634 24531634 + RNA SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24531634C>A ENST00000439059.2 + c.e2+2545C>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGAGCTAACGTAACTTGCC 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1108RP11-10N16.2 __UNKNOWN__ hg19 1 24537652 24537652 + RNA SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24537652C>A ENST00000439059.2 + c.e3-531C>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAATCACTTCTCCAGGAAGT 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1109RP11-10N16.3 __UNKNOWN__ hg19 1 24636835 24636835 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24636835C>T ENST00000437965.1 - c.e3-330G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAGACTCACGTAGACTGGC 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1110RP11-10N16.3 __UNKNOWN__ hg19 1 24640314 24640314 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24640314G>A ENST00000437965.1 - c.e2+1832C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGTATTGAGGGGAGGTTGA 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1111GRHL3 57822 __UNKNOWN__ hg19 1 24645356 24645356 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24645356A>G ENST00000236255.4 + GRHL3_ENST00000342072.4_5'Flank|GRHL3_ENST00000350501.5_5'Flank|GRHL3_ENST00000356046.2_5'Flank|GRHL3_ENST00000361548.4_5'Flank|RP11-10N16.3_ENST00000437965.1_RNA|GRHL3_ENST00000530984.1_5'Flank NM_021180.3 NP_067003.2 Q8TE85 GRHL3_HUMAN grainyhead like transcription factor 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGTAAAATATGTGTTGAAG 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471134 HGNC:25839 Approved gene with protein product protein-coding gene TFCP2L4 "transcription factor CP2-like 4", "grainyhead-like 3 (Drosophila)" SOM 1p36.11 2016-10-05 2005-07-11 2016-01-11 AY231161 ENSG00000158055 12549979, 23685552 NM_021180 CCDS251, CCDS252, CCDS44088, CCDS53284 OTTHUMG00000003040 608317 NM_001195010 Q8TE85 ENSG00000158055 uc001bix.3 A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57822 false 1112STPG1 90529 __UNKNOWN__ hg19 1 24687425 24687426 + Frame_Shift_Ins INS - - A 868621625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24687425_24687426insA ENST00000374409.1 - 8 1099 c.843_844insT c.(844-846)aagfs p.K282fs STPG1_ENST00000337248.4_Frame_Shift_Ins_p.K282fs|STPG1_ENST00000003583.8_Frame_Shift_Ins_p.K235fs|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000440416.1_Frame_Shift_Ins_p.K235fs|STPG1_ENST00000468303.1_Intron NM_001199012.1 NP_001185941.1 Q5TH74 STPG1_HUMAN sperm tail PG-rich repeat containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915) cytoplasm (GO:0005737)|nucleus (GO:0005634) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAATGCTTGCGGGGGCCT 0.5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC063891 HGNC:28070 Approved gene with protein product protein-coding gene C1orf201 "chromosome 1 open reading frame 201" FLJ33340, MAPO2 "O6-methylguanine-induced apoptosis 2" 1p36.11 2016-02-26 2012-07-30 2016-02-26 BC047705 ENSG00000001460 23028632 NM_178122 CCDS253, CCDS55581 OTTHUMG00000003297 615826 NM_001199012 Q5TH74 ENSG00000001460 uc001bja.4 Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3 true false false false false false false STPG1:90529|GRHL3:57822 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 147 rs868621625 90529 24687425 false 1113RP4-594I10.3 __UNKNOWN__ hg19 1 24876383 24876383 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24876383T>C ENST00000577528.1 - c.e2-1996A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGACTTGGATGCTGAATCAA 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1114RP4-594I10.3 __UNKNOWN__ hg19 1 24877458 24877458 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24877458A>G ENST00000577528.1 - c.e2-921T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTTCTCCAAAGCACTTATT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1115NCMAP 400746 __UNKNOWN__ hg19 1 24881126 24881126 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24881126C>T ENST00000374392.2 + RP4-594I10.3_ENST00000577528.1_RNA NM_001010980.4 NP_001010980.1 Q5T1S8 NCMAP_HUMAN non-compact myelin associated protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643) integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220) structural constituent of myelin sheath (GO:0019911) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCCTCTCCCTGTAACCAGG 0.5062344139650873 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC147015 HGNC:29332 Approved gene with protein product protein-coding gene C1orf130 "chromosome 1 open reading frame 130" FLJ42528, MP11 "myelin protein of 11 kDa" 1p36.11 2015-11-18 2012-07-31 2015-11-18 AK124519 ENSG00000184454 18650334 NM_001010980 CCDS30632 OTTHUMG00000003317 NM_001010980 Q5T1S8 ENSG00000184454 uc001bjk.3 A0PK04|B2RV34 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 400746 false 1116NCMAP 400746 __UNKNOWN__ hg19 1 24881453 24881453 + 5'Flank SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:24881453G>T ENST00000374392.2 + RP4-594I10.3_ENST00000577528.1_RNA NM_001010980.4 NP_001010980.1 Q5T1S8 NCMAP_HUMAN non-compact myelin associated protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ peripheral nervous system myelin formation (GO:0032290)|positive regulation of myelination (GO:0031643) integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|Schmidt-Lanterman incisure (GO:0043220) structural constituent of myelin sheath (GO:0019911) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGGTTGGGAGCAGTGGCTCA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC147015 HGNC:29332 Approved gene with protein product protein-coding gene C1orf130 "chromosome 1 open reading frame 130" FLJ42528, MP11 "myelin protein of 11 kDa" 1p36.11 2015-11-18 2012-07-31 2015-11-18 AK124519 ENSG00000184454 18650334 NM_001010980 CCDS30632 OTTHUMG00000003317 NM_001010980 Q5T1S8 ENSG00000184454 uc001bjk.3 A0PK04|B2RV34 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 400746 false 1117RP11-84D1.2 __UNKNOWN__ hg19 1 25297184 25297184 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:25297184G>A ENST00000568143.1 - c.e1-172C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCACATCCCGTCGTGTCCCC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1118RP11-84D1.2 __UNKNOWN__ hg19 1 25297184 25297184 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:25297184G>A ENST00000568143.1 - c.e1-172C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCACATCCCGTCGTGTCCCC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1119RP11-84D1.2 __UNKNOWN__ hg19 1 25297217 25297217 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:25297217G>T ENST00000568143.1 - c.e1-139C>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTCCCCGTGTCTCCCTAAA 0.5885286783042394 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1120RP11-70P17.1 __UNKNOWN__ hg19 1 25908241 25908241 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:25908241C>T ENST00000412797.1 + c.e1-22C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACCTGGACCGCATCCCGGT 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1121RP11-70P17.1 __UNKNOWN__ hg19 1 25908805 25908805 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:25908805T>C ENST00000412797.1 + c.e1+542T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCTGGGCGTGGTGGCTCAC 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1122RP11-70P17.1 __UNKNOWN__ hg19 1 25914219 25914219 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:25914219T>C ENST00000412797.1 + c.e2-2441T>C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGAGTTACTGAGAACTGCT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1123AUNIP 79000 __UNKNOWN__ hg19 1 26161572 26161572 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26161572delT ENST00000374298.3 - 3 1042 c.986delA c.(985-987)cagfs p.Q329fs AUNIP_ENST00000538789.1_Frame_Shift_Del_p.Q329fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank NM_024037.1 NP_076942.1 Q9H7T9 AUNIP_HUMAN aurora kinase A and ninein interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ spindle organization (GO:0007051) centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCATCCTCCTGGCACTGAGC 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GQ844687 HGNC:28363 Approved gene with protein product protein-coding gene C1orf135 "chromosome 1 open reading frame 135" MGC2603, AIBp 1p36.11 2014-11-19 2012-08-07 2012-08-07 ENSG00000127423 20596670 NM_024037 CCDS266, CCDS72731 OTTHUMG00000007372 NM_001287490 Q9H7T9 ENSG00000127423 uc001bkw.3 C9EI59|Q53F70 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79000 false 1124AUNIP 79000 __UNKNOWN__ hg19 1 26161630 26161630 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26161630delT ENST00000374298.3 - 3 984 c.928delA c.(928-930)accfs p.T310fs AUNIP_ENST00000538789.1_Frame_Shift_Del_p.T310fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank NM_024037.1 NP_076942.1 Q9H7T9 AUNIP_HUMAN aurora kinase A and ninein interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ spindle organization (GO:0007051) centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTTATTGGTTACATCTTGA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GQ844687 HGNC:28363 Approved gene with protein product protein-coding gene C1orf135 "chromosome 1 open reading frame 135" MGC2603, AIBp 1p36.11 2014-11-19 2012-08-07 2012-08-07 ENSG00000127423 20596670 NM_024037 CCDS266, CCDS72731 OTTHUMG00000007372 NM_001287490 Q9H7T9 ENSG00000127423 uc001bkw.3 C9EI59|Q53F70 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79000 false 1125AUNIP 79000 __UNKNOWN__ hg19 1 26161799 26161800 + Frame_Shift_Del DEL GG GG - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26161799_26161800delGG ENST00000374298.3 - 3 815_816 c.758_759delCC c.(757-762)tcctggfs p.S253fs AUNIP_ENST00000538789.1_Frame_Shift_Del_p.S253fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank NM_024037.1 NP_076942.1 Q9H7T9 AUNIP_HUMAN aurora kinase A and ninein interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ spindle organization (GO:0007051) centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCATTCCAGGATTCCCTGTA 0.4527363184079602 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GQ844687 HGNC:28363 Approved gene with protein product protein-coding gene C1orf135 "chromosome 1 open reading frame 135" MGC2603, AIBp 1p36.11 2014-11-19 2012-08-07 2012-08-07 ENSG00000127423 20596670 NM_024037 CCDS266, CCDS72731 OTTHUMG00000007372 NM_001287490 Q9H7T9 ENSG00000127423 uc001bkw.3 C9EI59|Q53F70 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79000 false 1126AUNIP 79000 __UNKNOWN__ hg19 1 26161916 26161916 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26161916delG ENST00000374298.3 - 3 698 c.642delC c.(640-642)cacfs p.H214fs AUNIP_ENST00000538789.1_Frame_Shift_Del_p.H214fs|AUNIP_ENST00000481602.1_Intron|RP1-317E23.7_ENST00000606617.1_5'Flank NM_024037.1 NP_076942.1 Q9H7T9 AUNIP_HUMAN aurora kinase A and ninein interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ spindle organization (GO:0007051) centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAGTTTGGTGTGTTTCTCCA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GQ844687 HGNC:28363 Approved gene with protein product protein-coding gene C1orf135 "chromosome 1 open reading frame 135" MGC2603, AIBp 1p36.11 2014-11-19 2012-08-07 2012-08-07 ENSG00000127423 20596670 NM_024037 CCDS266, CCDS72731 OTTHUMG00000007372 NM_001287490 Q9H7T9 ENSG00000127423 uc001bkw.3 C9EI59|Q53F70 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79000 false 1127AUNIP 79000 __UNKNOWN__ hg19 1 26164009 26164009 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26164009delG ENST00000374298.3 - 2 171 c.115delC c.(115-117)ctcfs p.L39fs AUNIP_ENST00000538789.1_Frame_Shift_Del_p.L39fs|AUNIP_ENST00000481602.1_Intron NM_024037.1 NP_076942.1 Q9H7T9 AUNIP_HUMAN aurora kinase A and ninein interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ spindle organization (GO:0007051) centrosome (GO:0005813)|cytoplasm (GO:0005737)|spindle pole (GO:0000922) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGAAGGAGTGTTAGCATT 0.39650872817955113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GQ844687 HGNC:28363 Approved gene with protein product protein-coding gene C1orf135 "chromosome 1 open reading frame 135" MGC2603, AIBp 1p36.11 2014-11-19 2012-08-07 2012-08-07 ENSG00000127423 20596670 NM_024037 CCDS266, CCDS72731 OTTHUMG00000007372 NM_001287490 Q9H7T9 ENSG00000127423 uc001bkw.3 C9EI59|Q53F70 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79000 false 1128PAFAH2 5051 __UNKNOWN__ hg19 1 26301007 26301007 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26301007delC ENST00000374282.3 - 9 1074 c.893delG c.(892-894)tgtfs p.C298fs PAFAH2_ENST00000374284.1_Frame_Shift_Del_p.C298fs NM_000437.3 NP_000428.2 Q99487 PAFA2_HUMAN platelet activating factor acetylhydrolase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066) cytoplasm (GO:0005737) 1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|phospholipid binding (GO:0005543) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGCTGGGCACATATCTTCTT 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U89386 HGNC:8579 Approved gene with protein product protein-coding gene "platelet-activating factor acetylhydrolase 2 (40kD)", "platelet-activating factor acetylhydrolase 2, 40kDa" HSD-PLA2 1p36.11 2016-10-05 2016-03-09 D87845 ENSG00000158006 8955149, 9494101 NM_000437 CCDS270 OTTHUMG00000007437 602344 NM_000437 Q99487 ENSG00000158006 uc001bld.4 D3DPK1|O15458|Q5SY02 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5051 false 1129ZNF593 51042 __UNKNOWN__ hg19 1 26496455 26496455 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26496455C>T ENST00000374266.5 + 1 ZNF593_ENST00000270812.5_5'UTR|RP11-96L14.7_ENST00000407889.2_RNA NM_015871.4 NP_056955.2 O00488 ZN593_HUMAN zinc finger protein 593 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCTTGGCCGGCCGGGCTG 0.71571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D45213 HGNC:30943 Approved gene with protein product protein-coding gene ZT86 1p36.11 2016-10-05 D45213 ENSG00000142684 9115366 NM_015871 CCDS275 OTTHUMG00000007538 616698 NM_015871 O00488 ENSG00000142684 uc001bll.5 B2R4S0|Q5T2H7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51042 false 1130CEP85 64793 __UNKNOWN__ hg19 1 26560745 26560745 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26560745G>A ENST00000252992.4 + 1 CEP85_ENST00000451429.2_5'UTR NM_022778.3 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|pancreas(22) 178 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGCAGACGTGGTGGCTGCAG 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:25309 Approved gene with protein product protein-coding gene CCDC21 "coiled-coil domain containing 21", "centrosomal protein 85kDa" DKFZP434L0117 1p36.11 2016-03-30 2011-05-06 2016-03-30 AK024038 ENSG00000130695 12477932 NM_022778 CCDS277, CCDS60038, CCDS81285 OTTHUMG00000003380 NM_001281517 Q6P2H3 ENSG00000130695 uc001bls.3 B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64793 false 1131CEP85 64793 __UNKNOWN__ hg19 1 26570763 26570763 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:26570763delC ENST00000252992.4 + 3 292 c.162delC c.(160-162)gacfs p.D54fs CEP85_ENST00000451429.2_Intron NM_022778.3 NP_073615.2 Q6P2H3 CEP85_HUMAN centrosomal protein 85 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|pancreas(22) 178 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTAGCCGACAGTGGGGACA 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:25309 Approved gene with protein product protein-coding gene CCDC21 "coiled-coil domain containing 21", "centrosomal protein 85kDa" DKFZP434L0117 1p36.11 2016-03-30 2011-05-06 2016-03-30 AK024038 ENSG00000130695 12477932 NM_022778 CCDS277, CCDS60038, CCDS81285 OTTHUMG00000003380 NM_001281517 Q6P2H3 ENSG00000130695 uc001bls.3 B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64793 false 1132ARID1A 8289 __UNKNOWN__ hg19 1 27020012 27020012 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:27020012C>T ENST00000324856.7 + ARID1A_ENST00000457599.2_5'Flank|RP5-968P14.2_ENST00000569378.1_RNA NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT-rich interaction domain 1A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514) DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713) ARID1A{NM_006015.3}:r.1_1507_MAST2{ENST00000361297}:r.461_5738(2) NS(226)|adrenal_gland(1)|autonomic_ganglia(93)|biliary_tract(90)|bone(29)|breast(600)|central_nervous_system(245)|cervix(15)|endometrium(592)|eye(26)|genital_tract(2)|haematopoietic_and_lymphoid_tissue(631)|kidney(367)|large_intestine(396)|liver(231)|lung(183)|meninges(19)|oesophagus(5)|ovary(521)|pancreas(365)|pericardium(2)|peritoneum(13)|pleura(23)|prostate(58)|salivary_gland(171)|skin(120)|small_intestine(1)|soft_tissue(37)|stomach(511)|thymus(47)|thyroid(42)|upper_aerodigestive_tract(192)|urinary_tract(150) 6004 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCTGGGATCGTGGTGTGGG 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ "Mis, N, F, S, D" "clear cell ovarian carcinoma, RCC" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AT rich interactive domain 1A (SWI-like) 8289 1 1p35.3 yes E Rec FJ821255 HGNC:11110 Approved gene with protein product protein-coding gene C1orf4, SMARCF1 "SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1", "AT rich interactive domain 1A (SWI- like)", "AT rich interactive domain 1A (SWI-like)" B120, P270, C10rf4, BAF250, BAF250a 1p36.11 2017-03-24 2004-01-30 2015-11-17 AB001895 ENSG00000117713 9630625, 9434167 NM_139135 418 AT-rich interaction domain containing CCDS285, CCDS44091 OTTHUMG00000004004 603024 NM_006015 O14497 ENSG00000117713 uc001bmv.2 D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8289 false 1133WDTC1 23038 __UNKNOWN__ hg19 1 27558522 27558522 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:27558522C>T ENST00000319394.3 + WDTC1_ENST00000361771.3_5'Flank|RP11-40H20.4_ENST00000425205.1_RNA NM_015023.4 NP_055838.2 Q8N5D0 WDTC1_HUMAN WD and tetratricopeptide repeats 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361) cytosol (GO:0005829)|nucleus (GO:0005634) enzyme inhibitor activity (GO:0004857) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGTGGCGGGCGCCTGTAGTC 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FO393419 HGNC:29175 Approved gene with protein product protein-coding gene KIAA1037, ADP, DCAF9 "adipose homolog (Drosophila)", "DDB1 and CUL4 associated factor 9" 1p36.11 2016-10-05 AK023778 ENSG00000142784 12717455, 19238144 NM_015023 498|769|362 DDB1 and CUL4 associated factors|Tetratricopeptide repeat domain containing|WD repeat domain containing CCDS296, CCDS60044 OTTHUMG00000004273 NM_001276252 Q8N5D0 ENSG00000142784 uc001bno.5 D3DPL5|Q5SSC5|Q9NV87|Q9UPW4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23038 false 1134STX12 23673 __UNKNOWN__ hg19 1 28120133 28120133 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28120133delC ENST00000373943.4 + 3 402 c.278delC c.(277-279)actfs p.T93fs STX12_ENST00000468761.1_Intron NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079) endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201) SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTTATCTACTTCAGAACAG 0.40399002493765584 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(5;5 342 2097 9488 34083) CR407620 HGNC:11430 Approved gene with protein product protein-coding gene STX13, STX14 1p35.3 2014-12-16 BC046999 ENSG00000117758 9507000 NM_177424 818 Syntaxins CCDS310 OTTHUMG00000003730 606892 NM_177424 Q86Y82 ENSG00000117758 uc001bou.4 B1AJQ7|O95564 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23673 false 1135SNHG12 85028 __UNKNOWN__ hg19 1 28906454 28906454 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:28906454C>T ENST00000488745.1 - c.e4+30G>A SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000483436.1_Splice_Site|SNHG12_ENST00000475441.1_Splice_Site|SNHG12_ENST00000384581.1_5'Flank|SNORD99_ENST00000408612.1_5'Flank Q9BXW3 SNH12_HUMAN small nucleolar RNA host gene 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAAGCTCACCTCCTCAGTAT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:30062 Approved RNA, long non-coding non-coding RNA C1orf79 "chromosome 1 open reading frame 79", "small nucleolar RNA host gene 12 (non-protein coding)" PNAS-123, LINC00100, ASLNC04080 "long intergenic non-protein coding RNA 100" 1p35.3 2016-12-21 2008-09-05 2015-02-20 AF277181, KJ782215 ENSG00000197989 25695231, 27980086 NR_024127 788 Long non-coding RNAs (published) OTTHUMG00000003654 NR_024127 Q9BXW3 ENSG00000197989 uc057dzf.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 85028 false 1136RP1-212P9.2 __UNKNOWN__ hg19 1 29194818 29194818 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29194818A>G ENST00000443593.2 + c.e1-254A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATACGATCATCAGCCTCAC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1137RP1-212P9.2 __UNKNOWN__ hg19 1 29194901 29194901 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29194901C>T ENST00000443593.2 + c.e1-171C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCACTTCACCTCCACGAGAG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1138RP1-212P9.3 __UNKNOWN__ hg19 1 29200219 29200219 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29200219T>C ENST00000418471.1 - c.e2+1219A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTACACTCTTGGATCCCTG 0.5561097256857855 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1139RP3-437I16.1 __UNKNOWN__ hg19 1 29658494 29658494 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29658494T>C ENST00000417651.1 - c.e3+790A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGAAAAATGAAATGTATC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1140RP3-437I16.1 __UNKNOWN__ hg19 1 29670073 29670073 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:29670073T>C ENST00000417651.1 - c.e1-6122A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCGTTCCATTTCCACACTT 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1141RP11-111I12.1 __UNKNOWN__ hg19 1 30487342 30487342 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:30487342T>C ENST00000445180.2 - c.e7-14A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGGAGAGCTTGGGGTGACTC 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1142RP11-111I12.1 __UNKNOWN__ hg19 1 30494591 30494591 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:30494591G>A ENST00000445180.2 - c.e4-3281C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAAGTATCGCCATCTTAAC 0.29925187032418954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1143MATN1 4146 __UNKNOWN__ hg19 1 31198733 31198733 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:31198733A>G ENST00000373765.4 - MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000443076.1_RNA NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500) extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix structural constituent (GO:0005201) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGTGTCCAGGGCTCAGGG 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M55683 HGNC:6907 Approved gene with protein product protein-coding gene CRTM, CMP 1p35.2 2016-10-05 M55675 ENSG00000162510 2246248, 9083061 NM_002379 CCDS336 OTTHUMG00000003705 115437 NM_002379 P21941 ENSG00000162510 uc001brz.4 B2R7E3|Q5TBB9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4146 false 1144PEF1 553115 __UNKNOWN__ hg19 1 32110813 32110813 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32110813A>G ENST00000373703.4 - PEF1_ENST00000440872.2_5'Flank|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.9_ENST00000581333.1_RNA|PEF1_ENST00000492061.1_5'Flank|RP11-73M7.6_ENST00000585413.1_5'Flank|RP11-73M7.6_ENST00000587445.1_5'Flank|RP11-73M7.6_ENST00000589462.1_5'Flank|RP11-73M7.6_ENST00000591929.1_5'Flank|RP11-73M7.6_ENST00000593188.1_5'Flank|RP11-73M7.6_ENST00000609033.1_5'Flank|RP11-73M7.6_ENST00000609338.1_5'Flank|RP11-73M7.6_ENST00000609373.1_5'Flank NM_012392.3 NP_036524.1 Q9UBV8 PEF1_HUMAN penta-EF-hand domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ proteolysis (GO:0006508)|response to calcium ion (GO:0051592) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020) calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|poly(A) RNA binding (GO:0044822)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982) biliary_tract(2)|central_nervous_system(44)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACCTGGCAAATGGGACGCAT 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR542139 HGNC:30009 Approved gene with protein product protein-coding gene PEF1A "peflin" 1p35.2 2016-10-05 ENSG00000162517 10486255, 11883899 NM_012392 863 EF-hand domain containing CCDS345 OTTHUMG00000003877 610033 NM_012392 Q9UBV8 ENSG00000162517 uc001bth.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 553115 false 1145PTP4A2 8073 __UNKNOWN__ hg19 1 32374453 32374453 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32374453delC ENST00000602725.1 - 5 923 c.505_504delG c.(502-504)tagfs p.M169fs PTP4A2_ENST00000457805.2_Frame_Shift_Del_p.M138fs|PTP4A2_ENST00000470404.1_3'UTR|PTP4A2_ENST00000344035.6_Frame_Shift_Del_p.M169fs|PTP4A2_ENST00000356536.3_3'UTR|AL136115.1_ENST00000391369.1_5'Flank|RP11-84A19.4_ENST00000602889.1_RNA Q12974 TP4A2_HUMAN protein tyrosine phosphatase type IVA, member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ peptidyl-tyrosine dephosphorylation (GO:0035335) cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) prenylated protein tyrosine phosphatase activity (GO:0004727) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATTTCCTTCTACTGAACAC 0.36159600997506236 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U48297 HGNC:9635 Approved gene with protein product protein-coding gene PTP4A HU-PP-1, PTPCAAX2, OV-1, ptp-IV1a, PRL-2, PRL2 "phosphatase of regenerating liver 2" 1p35.2 2017-10-17 L48723 ENSG00000184007 8661118, 9514946 NM_080391 899 Protein tyrosine phosphatases type IVA CCDS348, CCDS53292, CCDS59193 OTTHUMG00000003801 601584 NM_001195100 Q12974 ENSG00000184007 uc001bty.2 A8K9I8|B4DM39|D3DPP0|E9PGJ6|O00649|Q15197|Q15259|Q15260|Q15261|R4GN50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8073 false 1146Y_RNA __UNKNOWN__ hg19 1 32752074 32752074 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:32752074G>A ENST00000516641.1 - c.e1+21C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAATGAAGCGGCGGGAATGG 0.47381546134663344 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1147RP11-114B7.6 __UNKNOWN__ hg19 1 33187046 33187046 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:33187046C>T ENST00000421619.1 - c.e2+3477G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCCCTCATCTCTTTTTACC 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1148RNF19B 127544 __UNKNOWN__ hg19 1 33402442 33402442 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:33402442delC ENST00000373456.7 - 9 2165 c.2164delG c.(2164-2166)gtcfs p.V722fs RNF19B_ENST00000235150.4_Frame_Shift_Del_p.V721fs|RNF19B_ENST00000356990.5_3'UTR NM_153341.2 NP_699172.2 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ interferon-gamma secretion (GO:0072643)|natural killer cell mediated cytotoxicity (GO:0042267)|protein ubiquitination (GO:0016567) cytolytic granule (GO:0044194)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTTCAAGACAGTTTGTCCC 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:26886 Approved gene with protein product protein-coding gene IBRDC3 "IBR domain containing 3" FLJ90005 1p35.1 2014-11-19 2007-08-20 2007-08-20 AK074486 ENSG00000116514 12477932 NM_153341 58 Ring finger proteins CCDS372, CCDS44107, CCDS72754 OTTHUMG00000004013 610872 NM_001127361 Q6ZMZ0 ENSG00000116514 uc010oho.3 B7ZLB2|E9PAW6|G3XA82|Q0VG77|Q5TH44|Q5TH45|Q6P6A4|Q8N2S8|Q8WUF3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127544 false 1149RP1-117O3.2 __UNKNOWN__ hg19 1 33472942 33472942 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:33472942A>G ENST00000427524.1 + c.e1+20022A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTAAACCCAAAGCTGCTGCA 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1150RP1-34M23.5 __UNKNOWN__ hg19 1 35239992 35239992 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35239992T>C ENST00000542839.1 - c.e2+12516A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGATGCCCTATACTCTTGCAG 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1151GJB3 2707 __UNKNOWN__ hg19 1 35246297 35246297 + 5'Flank SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35246297A>G ENST00000373362.3 + GJB3_ENST00000373366.2_5'Flank|RP1-34M23.5_ENST00000542839.1_RNA|AL121988.1_ENST00000401343.1_5'Flank NM_001005752.1 NP_001005752.1 O75712 CXB3_HUMAN gap junction protein beta 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell communication (GO:0007154)|in utero embryonic development (GO:0001701)|placenta development (GO:0001890)|sensory perception of sound (GO:0007605)|skin development (GO:0043588)|transmembrane transport (GO:0055085) connexon complex (GO:0005922)|cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021) gap junction channel activity (GO:0005243) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCTGGGGCACTGCAGGCTT 0.4763092269326683 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF126148 HGNC:4285 Approved gene with protein product protein-coding gene DFNA2, EKV "gap junction protein, beta 3, 31kD (connexin 31)", "gap junction protein, beta 3, 31kDa (connexin 31)", "erythrokeratodermia variabilis", "gap junction protein, beta 3, 31kDa" CX31 "connexin 31" 1p34.3 2016-10-05 2015-11-09 BC012918 ENSG00000188910 9843210, 9704026 NM_024009 314|1152 Gap junction proteins|Deafness associated genes CCDS384 OTTHUMG00000004051 603324 NM_001005752 O75712 ENSG00000188910 uc001bxx.4 B2R790|Q2TAZ8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2707 false 1152RP1-34M23.5 __UNKNOWN__ hg19 1 35253376 35253376 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35253376C>T ENST00000542839.1 - c.e1-213G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGGGAATACGGTCAGCATG 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1153RP11-244H3.1 __UNKNOWN__ hg19 1 35444037 35444037 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35444037T>C ENST00000417456.1 - c.e2+1034A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGGGCATATTCCTACCCTC 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1154ZMYM6 9204 __UNKNOWN__ hg19 1 35497529 35497529 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35497529G>A ENST00000357182.4 - 1 ZMYM6_ENST00000373340.2_5'UTR|ZMYM6_ENST00000317538.5_5'Flank|ZMYM6_ENST00000373333.1_5'Flank|ZMYM6_ENST00000487874.1_5'Flank|ZMYM6_ENST00000493328.1_5'Flank NM_007167.3 NP_009098.3 O95789 ZMYM6_HUMAN zinc finger MYM-type containing 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604) nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAACGCAACGACCGGCCAAC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ486153 HGNC:13050 Approved gene with protein product protein-coding gene ZNF258 "zinc finger protein 258" ZNF198L4, MYM, Buster2, ZBED7 "zinc finger, BED-type containing 7" 1p34.3 2016-10-05 2005-09-12 2016-02-15 AF055470 ENSG00000163867 10486218, 23533661 NM_007167 86 Zinc fingers MYM-type CCDS387 OTTHUMG00000004163 613567 NM_007167 O95789 ENSG00000163867 uc001byh.4 B4DRJ6|Q32Q23|Q4G108|Q5SVZ9|Q5SW00|Q69YL4|Q96IY0|Q9NWF1|Q9P2J4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9204 false 1155ZMYM4 9202 __UNKNOWN__ hg19 1 35854643 35854643 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:35854643delG ENST00000314607.6 + 14 2475 c.2396delG c.(2395-2397)tgtfs p.C799fs ZMYM4_ENST00000373297.2_Frame_Shift_Del_p.C710fs NM_005095.2 NP_005086.2 Q5VZL5 ZMYM4_HUMAN zinc finger MYM-type containing 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(180)|large_intestine(37)|lung(2)|pancreas(22) 335 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTTCTGTTGTGAAGAATGC 0.29925187032418954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:13055 Approved gene with protein product protein-coding gene ZNF262 "zinc finger protein 262" KIAA0425, ZNF198L3, MYM 1p34.3 2016-10-05 2005-12-19 2016-02-15 AB007885 ENSG00000146463 10449923 NM_005095 86 Zinc fingers MYM-type CCDS389 OTTHUMG00000004241 613568 NM_005095 Q5VZL5 ENSG00000146463 uc001byt.3 A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9202 false 1156AGO4 192670 __UNKNOWN__ hg19 1 36291075 36291075 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36291075delA ENST00000373210.3 + 4 712 c.468delA c.(466-468)acafs p.R157fs NM_017629.3 NP_060099.2 Q9HCK5 AGO4_HUMAN argonaute 4, RISC catalytic component __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015) cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442) miRNA binding (GO:0035198) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTTATCACAAGACACCTTC 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:18424 Approved gene with protein product protein-coding gene EIF2C4 "eukaryotic translation initiation factor 2C, 4", "argonaute RISC catalytic component 4" hAGO4, KIAA1567, FLJ20033 "argonaute 4" 1p34.3 2016-10-05 2013-02-15 2015-11-27 AB046787 ENSG00000134698 12906857 NM_017629 408 Argonaute/PIWI family CCDS397 OTTHUMG00000004243 607356 NM_017629 Q9HCK5 ENSG00000134698 uc001bzj.3 A7MD27 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 192670 false 1157ADPRHL2 54936 __UNKNOWN__ hg19 1 36558985 36558985 + Nonstop_Mutation SNP T T G 183554661 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36558985T>G ENST00000373178.4 + 6 1120 c.1090T>G c.(1090-1092)Tga>Gga p.*364G NM_017825.2 NP_060295.1 Q9NX46 ARHL2_HUMAN ADP-ribosylhydrolase like 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrion (GO:0005739)|nucleus (GO:0005634) metal ion binding (GO:0046872)|poly(ADP-ribose) glycohydrolase activity (GO:0004649) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAAGAGTTGATGAGGGCT 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457237 HGNC:21304 Approved gene with protein product protein-coding gene ARH3, FLJ20446 "ADP-ribosylarginine hydrolase like 2" 1p34.3 2016-06-02 AJ427295 ENSG00000116863 12070318, 16278211 NM_017825 CCDS402 OTTHUMG00000007628 610624 NM_017825 Q9NX46 ENSG00000116863 uc001bzt.4 Q53G94|Q6IAB8|Q9BY47 true false 0.9998,0.0001997 false false 0 false false false ADPRHL2:54936 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false SNV 0x050000000205040436000100 1 false 135 rs183554661 54936 36558985 true 1158RP11-268J15.5 __UNKNOWN__ hg19 1 36789546 36789546 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36789546A>G ENST00000373137.2 + 1 EVA1B_ENST00000270824.1_5'UTR|SH3D21_ENST00000474766.1_Intron|EVA1B_ENST00000490466.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCAGATCAAATAAACGGAGT 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY240960 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1159MRPS15 64960 __UNKNOWN__ hg19 1 36929988 36929988 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:36929988T>C ENST00000373116.5 - 1 MRPS15_ENST00000488606.1_5'Flank NM_031280.3 NP_112570.2 P82914 RT15_HUMAN mitochondrial ribosomal protein S15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ translation (GO:0006412) mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCGAGGCAGTTGCAATACCG 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:14504 Approved gene with protein product protein-coding gene FLJ11564 1p34.3 2015-08-25 AB049946 ENSG00000116898 NM_031280 646 Mitochondrial ribosomal proteins CCDS411 OTTHUMG00000008042 611979 NM_031280 P82914 ENSG00000116898 uc001cas.3 B2RD82|Q9H2K1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64960 false 1160RP11-422J8.1 __UNKNOWN__ hg19 1 37922859 37922859 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:37922859C>T ENST00000424989.1 - c.e2+799G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCATCTCATCCGCTTTAGGGG 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1161ZC3H12A 80149 __UNKNOWN__ hg19 1 37939094 37939094 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:37939094C>T ENST00000373087.6 + RP11-422J8.1_ENST00000424989.1_RNA NM_025079.2 NP_079355.2 zinc finger CCCH-type containing 12A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGTGTTTTCTCTCTCTCTC 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FJ695517 HGNC:26259 Approved gene with protein product protein-coding gene FLJ23231, MCPIP1 "MCP induced protein 1" 1p34.3 2014-11-19 ENSG00000163874 18178554, 22055188 NM_025079 73 Zinc fingers CCCH-type CCDS417 OTTHUMG00000004221 610562 NM_001323550 Q5D1E8 ENSG00000163874 uc001cbb.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80149 false 1162ZC3H12A 80149 __UNKNOWN__ hg19 1 37939173 37939173 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:37939173T>C ENST00000373087.6 + RP11-422J8.1_ENST00000424989.1_RNA NM_025079.2 NP_079355.2 zinc finger CCCH-type containing 12A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCCCTCAGTCACTCGTGGT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FJ695517 HGNC:26259 Approved gene with protein product protein-coding gene FLJ23231, MCPIP1 "MCP induced protein 1" 1p34.3 2014-11-19 ENSG00000163874 18178554, 22055188 NM_025079 73 Zinc fingers CCCH-type CCDS417 OTTHUMG00000004221 610562 NM_001323550 Q5D1E8 ENSG00000163874 uc001cbb.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80149 false 1163SF3A3 10946 __UNKNOWN__ hg19 1 38456106 38456106 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:38456106G>A ENST00000373019.4 - 1 SF3A3_ENST00000448721.2_5'Flank|RNU6-510P_ENST00000391239.1_5'Flank|SF3A3_ENST00000489537.1_5'Flank NM_006802.2 NP_006793.1 Q12874 SF3A3_HUMAN splicing factor 3a subunit 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375) catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGAAAATGGGAATAGTGGGG 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X81789 HGNC:10767 Approved gene with protein product protein-coding gene "splicing factor 3a, subunit 3, 60kD", "splicing factor 3a, subunit 3, 60kDa" SF3a60, SAP61, PRP9, PRPF9 1p34.3 2015-11-09 2015-11-09 U08815 ENSG00000183431 7816610, 8022796 NM_006802 1501 U2 small nucleolar ribonucleoprotein CCDS428 OTTHUMG00000004438 605596 NM_001320830 Q12874 ENSG00000183431 uc001cci.4 D3DPT5|Q15460|Q5VT87 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10946 false 1164RRAGC 64121 __UNKNOWN__ hg19 1 39305316 39305316 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39305316delC ENST00000373001.3 - 7 1287 c.1109delG c.(1108-1110)ggtfs p.G370fs RRAGC_ENST00000474456.1_Intron NM_022157.3 NP_071440.1 Ras related GTP binding C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAGTCACACCCACCTCAAA 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:19902 Approved gene with protein product protein-coding gene "Ras-related GTP binding C" GTR2, FLJ13311 1p34.3 2016-10-05 2016-02-23 AF323609 ENSG00000116954 11073942 NM_022157 CCDS430 OTTHUMG00000000490 608267 NM_001271851 Q9HB90 ENSG00000116954 uc001ccq.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64121 false 1165GJA9 81025 __UNKNOWN__ hg19 1 39350742 39350742 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39350742C>T ENST00000357771.3 - GJA9_ENST00000454994.2_5'Flank|RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'Flank NM_030772.4 NP_110399.2 P57773 CXA9_HUMAN gap junction protein alpha 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell communication (GO:0007154) connexon complex (GO:0005922)|integral component of membrane (GO:0016021) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTATATCTAACTAAGTGTATA 0.32917705735660846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:19155 Approved gene with protein product protein-coding gene GJA10 "gap junction protein, alpha 10, 59kDa", "gap junction protein, alpha 9, 59kDa" CX59, CX58 "connexin 59" 1p34.3 2016-10-05 2007-11-06 2015-11-09 AF179597 ENSG00000131233 NM_030772 314 Gap junction proteins CCDS432 OTTHUMG00000000482 611923 NM_030772 P57773 ENSG00000131233 uc057ezp.1 B2R722|B3KVQ2|Q5TA63|Q96KG0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 81025 false 1166MACF1 23499 __UNKNOWN__ hg19 1 39797336 39797336 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39797336delT ENST00000372915.3 + 36 5177 c.5091delT c.(5089-5091)tatfs p.R1699fs MACF1_ENST00000567887.1_Frame_Shift_Del_p.R1731fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.R1694fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.R134fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(50)|central_nervous_system(45)|large_intestine(37)|lung(98)|pancreas(22)|upper_aerodigestive_tract(120) 374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGAGTCTTATCTTAGAACAT 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL442071 HGNC:13664 Approved gene with protein product protein-coding gene KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 "actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7" 1p34.3 2016-10-05 AB007934 ENSG00000127603 7635207, 10529403 NM_033044 939|863 Plakins|EF-hand domain containing CCDS435 OTTHUMG00000007754 608271 NM_012090 Q9UPN3 ENSG00000127603 uc057ezw.1 B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23499 false 1167MACF1 23499 __UNKNOWN__ hg19 1 39800499 39800499 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39800499delG ENST00000372915.3 + 36 8340 c.8254delG c.(8254-8256)gagfs p.E2752fs MACF1_ENST00000567887.1_Frame_Shift_Del_p.E2784fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.E2747fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.E1187fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(50)|central_nervous_system(45)|large_intestine(37)|lung(98)|pancreas(22)|upper_aerodigestive_tract(120) 374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAGCTATTGAGAAAAGACT 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL442071 HGNC:13664 Approved gene with protein product protein-coding gene KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 "actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7" 1p34.3 2016-10-05 AB007934 ENSG00000127603 7635207, 10529403 NM_033044 939|863 Plakins|EF-hand domain containing CCDS435 OTTHUMG00000007754 608271 NM_012090 Q9UPN3 ENSG00000127603 uc057ezw.1 B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23499 false 1168MACF1 23499 __UNKNOWN__ hg19 1 39806578 39806578 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39806578delA ENST00000372915.3 + 39 10635 c.10549delA c.(10549-10551)agtfs p.S3517fs MACF1_ENST00000567887.1_Frame_Shift_Del_p.S3549fs|MACF1_ENST00000564288.1_Frame_Shift_Del_p.S3512fs|MACF1_ENST00000289893.4_Frame_Shift_Del_p.S1952fs|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000476350.1_Intron Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(50)|central_nervous_system(45)|large_intestine(37)|lung(98)|pancreas(22)|upper_aerodigestive_tract(120) 374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGATCTAACAGTGAAATAGA 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL442071 HGNC:13664 Approved gene with protein product protein-coding gene KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776 "actin cross-linking factor", "620 kDa actin binding protein", "macrophin 1", "trabeculin-alpha", "actin cross-linking family protein 7" 1p34.3 2016-10-05 AB007934 ENSG00000127603 7635207, 10529403 NM_033044 939|863 Plakins|EF-hand domain containing CCDS435 OTTHUMG00000007754 608271 NM_012090 Q9UPN3 ENSG00000127603 uc057ezw.1 B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23499 false 1169RP11-69E11.4 __UNKNOWN__ hg19 1 39992808 39992808 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:39992808T>C ENST00000458207.1 - c.e2-1880A>G RP11-69E11.4_ENST00000440190.1_RNA|RP11-69E11.4_ENST00000450157.1_RNA|RP11-69E11.4_ENST00000431553.1_RNA|RP11-69E11.4_ENST00000417869.1_RNA|RP11-69E11.4_ENST00000331856.2_5'Flank|RP11-69E11.4_ENST00000441741.1_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCAAAATTGGCGTCACCC 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1170PPT1 5538 __UNKNOWN__ hg19 1 40546155 40546155 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40546155C>T ENST00000530076.1 - 2 PPT1_ENST00000433473.3_Missense_Mutation_p.V181M|PPT1_ENST00000449045.2_Missense_Mutation_p.V78M|PPT1_ENST00000372775.2_5'Flank P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(12)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGCTTGCACGAGGCTGTAG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL512599 HGNC:9325 Approved gene with protein product protein-coding gene PPT CLN1, INCL "ceroid-lipofuscinosis, neuronal 1, infantile" 1p34.2 2017-03-24 2008-07-31 U44772 3.1.2.22 ENSG00000131238 7637805, 8325646 NM_000310 CCDS447, CCDS44119 OTTHUMG00000004495 600722 NM_000310 P50897 ENSG00000131238 uc001cfb.3 B4DY24|Q6FGQ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5538 false 1171PPT1 5538 __UNKNOWN__ hg19 1 40546155 40546155 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40546155C>T ENST00000530076.1 - 2 PPT1_ENST00000433473.3_Missense_Mutation_p.V181M|PPT1_ENST00000449045.2_Missense_Mutation_p.V78M|PPT1_ENST00000372775.2_5'Flank P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(12)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGGCTTGCACGAGGCTGTAG 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL512599 HGNC:9325 Approved gene with protein product protein-coding gene PPT CLN1, INCL "ceroid-lipofuscinosis, neuronal 1, infantile" 1p34.2 2017-03-24 2008-07-31 U44772 3.1.2.22 ENSG00000131238 7637805, 8325646 NM_000310 CCDS447, CCDS44119 OTTHUMG00000004495 600722 NM_000310 P50897 ENSG00000131238 uc001cfb.3 B4DY24|Q6FGQ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5538 false 1172PPT1 5538 __UNKNOWN__ hg19 1 40547950 40547950 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40547950C>T ENST00000530076.1 - 1 PPT1_ENST00000433473.3_Intron|PPT1_ENST00000449045.2_Intron|PPT1_ENST00000372775.2_5'Flank P50897 PPT1_HUMAN palmitoyl-protein thioesterase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601) axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021) palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(12)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGAGCCAGCTACGTCAGAG 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL512599 HGNC:9325 Approved gene with protein product protein-coding gene PPT CLN1, INCL "ceroid-lipofuscinosis, neuronal 1, infantile" 1p34.2 2017-03-24 2008-07-31 U44772 3.1.2.22 ENSG00000131238 7637805, 8325646 NM_000310 CCDS447, CCDS44119 OTTHUMG00000004495 600722 NM_000310 P50897 ENSG00000131238 uc001cfb.3 B4DY24|Q6FGQ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5538 false 1173TMCO2 127391 __UNKNOWN__ hg19 1 40717197 40717197 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40717197delT ENST00000372766.3 + 2 572 c.480delT c.(478-480)tctfs p.E161fs TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTGCTCCTCTGAGCCCTACT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC108666 HGNC:23312 Approved gene with protein product protein-coding gene dJ39G22.2 1p34.2 2015-08-26 AL050341 ENSG00000188800 NM_001008740 CCDS30684 OTTHUMG00000005764 NM_001008740 Q7Z6W1 ENSG00000188800 uc001cfe.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127391 false 1174ZMPSTE24 10269 __UNKNOWN__ hg19 1 40722795 40722795 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40722795G>A ENST00000372759.3 + RP1-39G22.7_ENST00000567508.1_RNA|ZMPSTE24_ENST00000479131.1_5'Flank NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634) metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGGTTGAGAAATTCAAGA 0.3092269326683292 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y13834 HGNC:12877 Approved gene with protein product protein-coding gene "zinc metalloproteinase (STE24 homolog, yeast)", "zinc metallopeptidase (STE24 homolog, yeast)", "zinc metallopeptidase STE24 homolog (S. cerevisiae)" FACE-1, Ste24p, STE24, HGPS, PRO1 "Hutchinson-Gilford progeria syndrome", "CAAX prenyl protease 1 homolog" 1p34.2 2017-03-24 2012-12-10 Y13834 3.4.24.84 ENSG00000084073 10373325, 9700155, 16671095 CCDS449 OTTHUMG00000005762 606480 NM_005857 O75844 ENSG00000084073 uc001cfg.5 B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10269 false 1175RP1-228H13.5 __UNKNOWN__ hg19 1 40930624 40930624 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40930624A>G ENST00000565390.1 + c.e1+633A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTGGCACTACCAATATTTT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1176ZFP69 339559 __UNKNOWN__ hg19 1 40961345 40961345 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40961345delA ENST00000372706.1 + 6 2200 c.1195delA c.(1195-1197)agtfs p.S399fs ZFP69_ENST00000372705.3_Frame_Shift_Del_p.S399fs|RP11-656D10.3_ENST00000450713.1_RNA Q49AA0 ZFP69_HUMAN ZFP69 zinc finger protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGACACCTTAGTGAACATAT 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC041873 HGNC:24708 Approved gene with protein product protein-coding gene ZNF642 "zinc finger protein 642" ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A "ZFP69 zinc finger protein A" 1p34.2 2014-11-19 2012-11-27 2012-11-27 AK122618 ENSG00000187815 NM_198494 42|28 SCAN domain containing|Zinc fingers C2H2-type CCDS30686 OTTHUMG00000007303 NM_001320178 Q49AA0 ENSG00000187815 uc009vwb.4 Q5SWM5|Q6ZWK8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339559 false 1177RP11-656D10.3 __UNKNOWN__ hg19 1 40966167 40966167 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40966167C>T ENST00000450713.1 - c.e2+6807G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTCAGGTGCCAACCCTTAA 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1178EXO5 64789 __UNKNOWN__ hg19 1 40974156 40974156 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40974156T>C ENST00000296380.4 + EXO5_ENST00000358527.2_5'Flank|EXO5_ENST00000372703.1_5'Flank|RP11-656D10.3_ENST00000450713.1_RNA|EXO5_ENST00000471429.1_5'Flank NM_022774.1 NP_073611.1 Q9H790 EXO5_HUMAN exonuclease 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297) cytosol (GO:0005829)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTGCTCGGATTGTCCCGGTG 0.5561097256857855 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:26115 Approved gene with protein product protein-coding gene C1orf176, DEM1 "chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)" FLJ21144 1p34.2 2014-11-19 2012-10-30 2012-10-30 AK024797 ENSG00000164002 23095756 NM_022774 544 Exonucleases CCDS453 OTTHUMG00000007305 NM_022774 Q9H790 ENSG00000164002 uc001cfp.4 D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64789 false 1179EXO5 64789 __UNKNOWN__ hg19 1 40974799 40974799 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40974799T>C ENST00000372703.1 + 1 EXO5_ENST00000296380.4_Intron|EXO5_ENST00000358527.2_Intron|EXO5_ENST00000471429.1_Intron|RP11-656D10.3_ENST00000450713.1_5'Flank Q9H790 EXO5_HUMAN exonuclease 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297) cytosol (GO:0005829)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCTGTTCTTATTCCTGGCT 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:26115 Approved gene with protein product protein-coding gene C1orf176, DEM1 "chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)" FLJ21144 1p34.2 2014-11-19 2012-10-30 2012-10-30 AK024797 ENSG00000164002 23095756 NM_022774 544 Exonucleases CCDS453 OTTHUMG00000007305 NM_022774 Q9H790 ENSG00000164002 uc001cfp.4 D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64789 false 1180EXO5 64789 __UNKNOWN__ hg19 1 40980602 40980602 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:40980602delA ENST00000372703.1 + 2 1459 c.386delA c.(385-387)catfs p.H129fs EXO5_ENST00000296380.4_Frame_Shift_Del_p.H129fs|EXO5_ENST00000358527.2_Frame_Shift_Del_p.H129fs|RP11-656D10.5_ENST00000453437.1_RNA Q9H790 EXO5_HUMAN exonuclease 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA catabolic process, exonucleolytic (GO:0000738)|interstrand cross-link repair (GO:0036297) cytosol (GO:0005829)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|single-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008310)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAGAACTTCATGATCTTGTG 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:26115 Approved gene with protein product protein-coding gene C1orf176, DEM1 "chromosome 1 open reading frame 176", "defects in morphology 1 homolog (S. cerevisiae)" FLJ21144 1p34.2 2014-11-19 2012-10-30 2012-10-30 AK024797 ENSG00000164002 23095756 NM_022774 544 Exonucleases CCDS453 OTTHUMG00000007305 NM_022774 Q9H790 ENSG00000164002 uc001cfp.4 D3DPV4|Q5SWM7|Q5SWM8|Q5SWM9|Q5SWN0|Q5SWN1|Q8WTW9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64789 false 1181RP5-1066H13.4 __UNKNOWN__ hg19 1 41338665 41338665 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:41338665A>G ENST00000414199.1 + c.e3-3474A>G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTATTCCCACATCATAAATGA 0.38154613466334164 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1182CTPS1 1503 __UNKNOWN__ hg19 1 41461697 41461697 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:41461697delC ENST00000372621.4 + 8 1336 c.829delC c.(829-831)cagfs p.Q277fs CTPS1_ENST00000372616.1_Frame_Shift_Del_p.Q277fs|CTPS1_ENST00000541520.1_Frame_Shift_Del_p.Q46fs|CTPS1_ENST00000543104.1_Frame_Shift_Del_p.Q284fs NM_001905.2 NP_001896.2 CTP synthase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTGAGAGGCAGCCAAGAAA 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X52142 HGNC:2519 Approved gene with protein product protein-coding gene CTPS "CTP synthase" GATD5 1p34.2 2017-03-16 2012-05-02 2012-05-02 BC009408 6.3.4.2 ENSG00000171793 1783378 NM_001905 1408 Glutamine amidotransferase like class 1 domain containing CCDS459 OTTHUMG00000005712 123860 NM_001301237 P17812 ENSG00000171793 uc001cgk.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1503 false 1183HIVEP3 59269 __UNKNOWN__ hg19 1 42094498 42094498 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:42094498A>G ENST00000372583.1 - 3 HIVEP3_ENST00000247584.5_5'UTR|HIVEP3_ENST00000372584.1_5'UTR|HIVEP3_ENST00000429157.2_5'UTR NM_024503.4 NP_078779.2 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|lung(3)|pancreas(22)|thymus(14)|upper_aerodigestive_tract(3) 173 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCCACTCCTACGGCAGCCAC 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC152563 HGNC:13561 Approved gene with protein product protein-coding gene "human immunodeficiency virus type I enhancer-binding protein 3" KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C "kappabinding protein-1" 1p34.2 2016-10-05 2001-11-28 AF278765 ENSG00000127124 11161801 NM_024503 28 Zinc fingers C2H2-type CCDS463, CCDS44124 OTTHUMG00000006361 606649 NM_001127714 Q5T1R4 ENSG00000127124 uc001cgz.5 A7YY91|Q5T1R5|Q9BZS0|Q9HCL7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 59269 false 1184CCDC30 728621 __UNKNOWN__ hg19 1 43004895 43004895 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43004895delA ENST00000340612.4 + 2 168 c.169delA c.(169-171)aatfs p.N57fs CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000428554.2_Frame_Shift_Del_p.N57fs|CCDC30_ENST00000342022.4_Frame_Shift_Del_p.N57fs|CCDC30_ENST00000390640.4_5'Flank Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAAGTTCACAATCTTCCAGG 0.30673316708229426 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY639646 HGNC:26103 Approved gene with protein product protein-coding gene FLJ20972, PFD6L, LOC728621 "prefoldin 6-like" 1p34.2 2015-08-24 AY639646 ENSG00000186409 16710767 NM_025030 CCDS30690 OTTHUMG00000007334 NM_001080850 Q5VVM6 ENSG00000186409 uc057fjg.1 Q14F06|Q5VVM5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 728621 false 1185CCDC30 728621 __UNKNOWN__ hg19 1 43021828 43021828 + Splice_Site DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43021828delC ENST00000340612.4 + 4 426 c.427delC c.(427-429)cccfs p.K144fs CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000428554.2_Splice_Site_p.K144fs|CCDC30_ENST00000342022.4_Splice_Site_p.K144fs|CCDC30_ENST00000390640.4_Intron Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCACCAAGTCCCAAATTAGG 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_DEL AY639646 HGNC:26103 Approved gene with protein product protein-coding gene FLJ20972, PFD6L, LOC728621 "prefoldin 6-like" 1p34.2 2015-08-24 AY639646 ENSG00000186409 16710767 NM_025030 CCDS30690 OTTHUMG00000007334 NM_001080850 Q5VVM6 ENSG00000186409 uc057fjg.1 Q14F06|Q5VVM5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 728621 false 1186C1orf50 79078 __UNKNOWN__ hg19 1 43232984 43232984 + START_CODON_SNP SNP T T C 200116115 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43232984T>C ENST00000372525.5 + 1 45 c.2T>C c.(1-3)aTg>aCg p.M1T C1orf50_ENST00000536543.1_3'UTR|LEPRE1_ENST00000236040.4_5'Flank|LEPRE1_ENST00000296388.5_5'Flank|LEPRE1_ENST00000397054.3_5'Flank|C1orf50_ENST00000468913.2_5'Flank NM_024097.3 NP_077002.2 Q9BV19 CA050_HUMAN chromosome 1 open reading frame 50 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGCTGTCATGGAGGACGCC 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC001711 HGNC:28795 Approved gene with protein product protein-coding gene MGC955 1p34.2 2016-10-24 BC001711 ENSG00000164008 12477932 NM_024097 CCDS473 OTTHUMG00000191873 NM_024097 Q9BV19 ENSG00000164008 uc001cia.5 true false 0.9996,.,0.0003994 false false 0 false false false P3H1:64175|C1orf50:79078 false true false true true false false false false false false true false false false false false false true true false false 0 false 0 false 0.999622,0.000171715,0.000206058 false false false SNV 0x050000020a05040436000100 1 false 137 rs200116115 79078 43232984 true 1187FAM183A 440585 __UNKNOWN__ hg19 1 43610910 43610910 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43610910T>G ENST00000410048.1 + 1 FAM183A_ENST00000335282.4_5'Flank|FAM183A_ENST00000409337.1_5'Flank A6NL82 F183A_HUMAN family with sequence similarity 183 member A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCAGGGCCATTGACAGAGAA 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL139138 HGNC:34347 Approved gene with protein product protein-coding gene "family with sequence similarity 183, member A" LOC440585, hCG23177 1p34.2 2016-09-30 2015-11-18 AI192630, AI375550, AL139138 ENSG00000186973 11181995 NM_001101376 CCDS44126 OTTHUMG00000007286 NM_001101376 A6NL82 ENSG00000186973 uc009vwo.4 B7ZBL8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 440585 false 1188TIE1 7075 __UNKNOWN__ hg19 1 43783610 43783613 + Frame_Shift_Del DEL GGAA GGAA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43783610_43783613delGGAA ENST00000372476.3 + 17 2867_2870 c.2789_2792delGGAA c.(2788-2793)cggaaafs p.R930fs TIE1_ENST00000433781.2_Frame_Shift_Del_p.R575fs|TIE1_ENST00000473014.1_Intron NM_005424.4 NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin like and EGF like domains 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570) integral component of plasma membrane (GO:0005887) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714) biliary_tract(2)|breast(201)|central_nervous_system(60)|haematopoietic_and_lymphoid_tissue(54)|kidney(46)|large_intestine(71)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|salivary_gland(24)|skin(49)|stomach(54)|testis(13)|upper_aerodigestive_tract(1) 1147 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTTTCTGCGGAAAAGCCGGGTC 0.5668316831683168 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X60957 HGNC:11809 Approved gene with protein product protein-coding gene TIE "tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1", "tyrosine kinase with immunoglobulin-like and EGF-like domains 1" JTK14 1p34.2 2016-10-05 2004-12-14 2016-01-21 BC038239 2.7.10.1 ENSG00000066056 1312667 NM_005424 555|594|321 Fibronectin type III domain containing|Immunoglobulin like domain containing|Receptor Tyrosine Kinases CCDS482 OTTHUMG00000007282 600222 NM_001253357 P35590 ENSG00000066056 uc001ciu.4 B5A949|B5A950 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7075 false 1189MED8 112950 __UNKNOWN__ hg19 1 43854091 43854091 + 5'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:43854091C>G ENST00000372455.4 - 2 MED8_ENST00000372457.4_Missense_Mutation_p.E5D|MED8_ENST00000290663.6_Missense_Mutation_p.E5D|SZT2_ENST00000310739.4_5'Flank|SZT2_ENST00000372450.4_5'Flank|SZT2_ENST00000562955.1_5'Flank|RP1-92O14.6_ENST00000436713.1_RNA Q96G25 MED8_HUMAN mediator complex subunit 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367) mediator complex (GO:0016592)|nucleoplasm (GO:0005654) RNA polymerase II transcription cofactor activity (GO:0001104) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGCTGCTTCTCCTCTCTCT 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BG722466 HGNC:19971 Approved gene with protein product protein-coding gene "mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)" MGC17544, MGC19641, ARC32 1p34.2 2016-10-05 2007-07-30 AF521562, BC010543 ENSG00000159479 12149480, 9671713 NM_052877 1061 Mediator complex CCDS486, CCDS487, CCDS60108 OTTHUMG00000007421 607956 NM_001001653 Q96G25 ENSG00000159479 uc001cjg.6 A9IZ91|A9IZ92|Q5JUY8|Q96FQ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 112950 false 1190B4GALT2 8704 __UNKNOWN__ hg19 1 44445667 44445667 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:44445667T>C ENST00000356836.6 + 1 B4GALT2_ENST00000372324.1_Intron|B4GALT2_ENST00000434555.2_Intron|B4GALT2_ENST00000309519.7_5'UTR|B4GALT2_ENST00000481924.1_5'Flank NM_030587.2 NP_085076.2 O60909 B4GT2_HUMAN beta-1,4-galactosyltransferase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ N-Acetyl-D-glucosamine(DB00141) GTGTGAGCTGTCTGAGAGTCT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y12510 HGNC:925 Approved gene with protein product protein-coding gene "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2" beta4Gal-T2 1p34.1 2016-10-05 2016-03-15 AF038660 2.4.1.38 ENSG00000117411 9405390, 9597550 NM_003780 425 Beta 4-glycosyltransferases CCDS506, CCDS55596 OTTHUMG00000008296 604013 NM_001005417 O60909 ENSG00000117411 uc001clg.4 B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8704 false 1191KIF2C 11004 __UNKNOWN__ hg19 1 45205606 45205606 + START_CODON_SNP SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45205606T>A ENST00000372224.4 + 1 115 c.2T>A c.(1-3)aTg>aAg p.M1K KIF2C_ENST00000372218.4_START_CODON_SNP_p.M1K|KIF2C_ENST00000493027.1_Intron NM_006845.3 NP_006836.2 Q99661 KIF2C_HUMAN kinesin family member 2C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983) chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCTCCGAATGGCCATGGAC 0.5835411471321695 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U63743 HGNC:6393 Approved gene with protein product protein-coding gene KNSL6 "kinesin-like 6 (mitotic centromere-associated kinesin)" MCAK, CT139 1p34.1 2014-11-19 2003-01-17 2003-01-13 U63743 ENSG00000142945 9434124 NM_006845 622 Kinesins CCDS512, CCDS72774 OTTHUMG00000008416 604538 NM_001297655 Q99661 ENSG00000142945 uc001cmg.5 B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11004 false 1192RPS8 6202 __UNKNOWN__ hg19 1 45241113 45241113 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45241113T>C ENST00000396651.3 + 1 RPS8_ENST00000372209.3_5'Flank|RP11-269F19.2_ENST00000428791.1_RNA|SNORD46_ENST00000364043.1_5'Flank|SNORD38A_ENST00000365161.1_5'Flank|SNORD38B_ENST00000384690.1_5'Flank|RPS8_ENST00000485390.1_5'Flank|SNORD55_ENST00000581525.1_5'Flank P62241 RS8_HUMAN ribosomal protein S8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000462)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGACCCTCCTAGGCTCGTGG 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X67247 HGNC:10441 Approved gene with protein product protein-coding gene S8 1p34.1 2016-10-05 BC070875 ENSG00000142937 8432552 NM_001012 728 S ribosomal proteins CCDS513 OTTHUMG00000008494 600357 NM_001012 P62241 ENSG00000142937 uc001cmi.4 P09058|Q6IRL7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6202 false 1193UROD 7389 __UNKNOWN__ hg19 1 45477940 45477940 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45477940G>A ENST00000246337.4 + 1 122 c.3G>A c.(1-3)atG>atA p.M1I HECTD3_ENST00000372168.3_5'Flank|HECTD3_ENST00000372172.4_5'Flank|UROD_ENST00000494399.1_Intron NM_000374.4 NP_000365.3 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829) uroporphyrinogen decarboxylase activity (GO:0004853) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCTGACCATGGAAGCGAATG 0.543640897755611 __UNKNOWN__ __UNKNOWN__ Porphyria Cutanea Tarda, Type II __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ PCT-II Familial Cancer Database X89267 HGNC:12591 Approved gene with protein product protein-coding gene 1p34.1 2017-03-24 BC001778 4.1.1.37 ENSG00000126088 3015909, 3460962 NM_000374 CCDS518 OTTHUMG00000008949 613521 NM_000374 P06132 ENSG00000126088 uc001cna.3 A8K762|Q16863|Q16883|Q53YB8|Q53ZP6|Q6IB28|Q9BUZ0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7389 false 1194CCDC163P __UNKNOWN__ hg19 1 45965247 45965254 + Frame_Shift_Del DEL TCCAGCTG TCCAGCTG - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45965247_45965254delTCCAGCTG ENST00000432082.1 - 1 401_408 c.28_35delCAGCTGGA c.(28-36)cagctggatfs p.Q10fs CCDC163P_ENST00000488405.2_Frame_Shift_Del_p.Q10fs|CCDC163P_ENST00000490551.3_Frame_Shift_Del_p.Q10fs|MMACHC_ENST00000401061.4_5'Flank|CCDC163P_ENST00000502793.2_5'Flank __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGAAGCACATCCAGCTGCTCAAACCAG 0.5465686274509803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL451136 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1195MMACHC 25974 __UNKNOWN__ hg19 1 45974886 45974886 + Nonstop_Mutation SNP G G C 201025783 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:45974886G>C ENST00000401061.4 + 4 1128 c.848G>C c.(847-849)tGa>tCa p.*283S MMACHC_ENST00000477188.1_5'Flank NM_015506.2 NP_056321.2 Q9Y4U1 MMAC_HUMAN methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrion (GO:0005739) cobalamin binding (GO:0031419) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CCTGGCCCTTGATTTTCTCCC 0.5112219451371571 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC006122 HGNC:24525 Approved gene with protein product protein-coding gene DKFZP564I122, cblC 1p34.1 2016-07-08 ENSG00000132763 16311595, 19700356, 19801555 NM_015506 CCDS41324, CCDS81315 OTTHUMG00000007742 609831 NM_015506 Q9Y4U1 ENSG00000132763 uc009vxv.4 Q5T157|Q9BRQ7 true false false false false false false MMACHC:25974 false true false true false false false false false false false false false false false false false false false true false false 0 false 0 false 0.999244,0.000240401,0.000515145 false false false SNV 0x050000000205040416000100 1 false 137 rs201025783 25974 45974886 true 1196AKR1A1 10327 __UNKNOWN__ hg19 1 46032296 46032296 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46032296delC ENST00000372070.3 + 4 886 c.140delC c.(139-141)gctfs p.A47fs AKR1A1_ENST00000351829.4_Frame_Shift_Del_p.A47fs|AKR1A1_ENST00000471651.1_Frame_Shift_Del_p.A47fs|AKR1A1_ENST00000473038.1_5'Flank NM_006066.3 NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1 member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ aldehyde catabolic process (GO:0046185)|cellular aldehyde metabolic process (GO:0006081)|D-glucuronate catabolic process (GO:0042840)|glucose metabolic process (GO:0006006)|L-ascorbic acid biosynthetic process (GO:0019853) apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|electron carrier activity (GO:0009055)|L-glucuronate reductase activity (GO:0047939) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Doxorubicin(DB00997) ATTGATTGTGCTGCTATCTAC 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ J04794 HGNC:380 Approved gene with protein product protein-coding gene "aldo-keto reductase family 1, member A1 (aldehyde reductase)" ALR, DD3 "dihydrodiol dehydrogenase 3", "aldehyde reductase" 1p34.1 2016-10-05 2016-06-03 J04794 1.1.1.2 ENSG00000117448 2498333, 10393438 NM_006066 399 Aldo-keto reductases CCDS523 OTTHUMG00000007740 103830 NM_001202413 P14550 ENSG00000117448 uc001cod.4 A8KAL8|D3DQ04|Q6IAZ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10327 false 1197CCDC17 149483 __UNKNOWN__ hg19 1 46086466 46086467 + Frame_Shift_Del DEL TT TT - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46086466_46086467delTT ENST00000528266.1 - 12 1788_1789 c.1638_1639delAA c.(1636-1638)gcafs p.D548fs CCDC17_ENST00000421127.2_Frame_Shift_Del_p.D539fs|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Frame_Shift_Del_p.D516fs Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCATCTCTTGCATTCACCA 0.5597014925373134 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC128178 HGNC:26574 Approved gene with protein product protein-coding gene FLJ33084 1p34.1 2016-04-25 ENSG00000159588 NM_152500 CCDS44131, CCDS53314 OTTHUMG00000007822 NM_001114938 Q96LX7 ENSG00000159588 uc010olt.3 A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 149483 false 1198CCDC17 149483 __UNKNOWN__ hg19 1 46087134 46087134 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46087134delC ENST00000528266.1 - 10 1356 c.1207delG c.(1207-1209)gatfs p.D403fs CCDC17_ENST00000421127.2_Frame_Shift_Del_p.D394fs|CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000343901.2_Frame_Shift_Del_p.D371fs|CCDC17_ENST00000464739.1_Intron Q96LX7 CCD17_HUMAN coiled-coil domain containing 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCAGGAAATCATAGAAAATG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC128178 HGNC:26574 Approved gene with protein product protein-coding gene FLJ33084 1p34.1 2016-04-25 ENSG00000159588 NM_152500 CCDS44131, CCDS53314 OTTHUMG00000007822 NM_001114938 Q96LX7 ENSG00000159588 uc010olt.3 A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 149483 false 1199GPBP1L1 60313 __UNKNOWN__ hg19 1 46120884 46120884 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46120884delA ENST00000290795.3 - 4 1391 c.168delT c.(166-168)aatfs p.N56fs GPBP1L1_ENST00000355105.3_Frame_Shift_Del_p.N56fs Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1 like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) GPBP1L1{ENST00000290795}:r.1_125+836_MAST2{ENST00000361297}:r.784_5738(2) biliary_tract(2)|breast(165)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 244 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTAGGGGACCATTGTTAAAAA 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:28843 Approved gene with protein product protein-coding gene "GC-rich promoter binding protein 1-like 1" SP192 1p34.1 2016-01-21 2016-01-21 ENSG00000159592 12477932 NM_021639 CCDS528 OTTHUMG00000040990 NM_021639 Q9HC44 ENSG00000159592 uc001coq.4 D3DQ10|Q9H751 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 60313 false 1200GPBP1L1 60313 __UNKNOWN__ hg19 1 46125880 46125880 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46125880T>C ENST00000290795.3 - 2 GPBP1L1_ENST00000355105.3_5'UTR Q9HC44 GPBL1_HUMAN GC-rich promoter binding protein 1 like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700) GPBP1L1{ENST00000290795}:r.1_125+836_MAST2{ENST00000361297}:r.784_5738(2) biliary_tract(2)|breast(165)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 244 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGTGGTCCTGTTTCTGAAC 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:28843 Approved gene with protein product protein-coding gene "GC-rich promoter binding protein 1-like 1" SP192 1p34.1 2016-01-21 2016-01-21 ENSG00000159592 12477932 NM_021639 CCDS528 OTTHUMG00000040990 NM_021639 Q9HC44 ENSG00000159592 uc001coq.4 D3DQ10|Q9H751 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 60313 false 1201TMEM69 51249 __UNKNOWN__ hg19 1 46153203 46153203 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46153203G>A ENST00000372025.4 + 1 GPBP1L1_ENST00000290795.3_5'Flank|GPBP1L1_ENST00000355105.3_5'Flank|TMEM69_ENST00000496366.1_5'Flank NM_016486.3 NP_057570.2 Q5SWH9 TMM69_HUMAN transmembrane protein 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACGGAAGGGCACTAAAATT 0.5012468827930174 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:28035 Approved gene with protein product protein-coding gene C1orf154 "chromosome 1 open reading frame 154" FLJ21029 1p34.1 2014-11-19 2005-08-17 2005-08-17 BC040289, BC013608 ENSG00000159596 NM_016486 CCDS41325 OTTHUMG00000040993 NM_016486 Q5SWH9 ENSG00000159596 uc001cor.2 Q3SWW5|Q7Z2G0|Q9P0P9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51249 false 1202TMEM69 51249 __UNKNOWN__ hg19 1 46158965 46158966 + Frame_Shift_Del DEL AT AT - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46158965_46158966delAT ENST00000372025.4 + 3 1288_1289 c.132_133delAT c.(130-135)ccatgtfs p.C45fs TMEM69_ENST00000496366.1_Intron NM_016486.3 NP_057570.2 Q5SWH9 TMM69_HUMAN transmembrane protein 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTTCCCCATGTCCAAGGCC 0.4129353233830846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:28035 Approved gene with protein product protein-coding gene C1orf154 "chromosome 1 open reading frame 154" FLJ21029 1p34.1 2014-11-19 2005-08-17 2005-08-17 BC040289, BC013608 ENSG00000159596 NM_016486 CCDS41325 OTTHUMG00000040993 NM_016486 Q5SWH9 ENSG00000159596 uc001cor.2 Q3SWW5|Q7Z2G0|Q9P0P9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51249 false 1203TMEM69 51249 __UNKNOWN__ hg19 1 46159032 46159032 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46159032delT ENST00000372025.4 + 3 1355 c.199delT c.(199-201)tccfs p.S67fs TMEM69_ENST00000496366.1_Intron NM_016486.3 NP_057570.2 Q5SWH9 TMM69_HUMAN transmembrane protein 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTATCATACATCCCCCTGCAG 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:28035 Approved gene with protein product protein-coding gene C1orf154 "chromosome 1 open reading frame 154" FLJ21029 1p34.1 2014-11-19 2005-08-17 2005-08-17 BC040289, BC013608 ENSG00000159596 NM_016486 CCDS41325 OTTHUMG00000040993 NM_016486 Q5SWH9 ENSG00000159596 uc001cor.2 Q3SWW5|Q7Z2G0|Q9P0P9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51249 false 1204PIK3R3 8503 __UNKNOWN__ hg19 1 46543211 46543211 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46543211delT ENST00000262741.5 - 3 981 c.290delA c.(289-291)cagfs p.Q97fs PIK3R3_ENST00000420542.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000372006.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000423209.1_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000354242.4_Frame_Shift_Del_p.Q97fs|PIK3R3_ENST00000340332.6_Frame_Shift_Del_p.Q61fs|PIK3R3_ENST00000540385.1_Frame_Shift_Del_p.Q143fs NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase regulatory subunit 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(172)|lung(323)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(24)|stomach(14)|upper_aerodigestive_tract(121) 1123 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Isoprenaline(DB01064) ATAATCTCCCTGCATTTTTGT 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y13809 HGNC:8981 Approved gene with protein product protein-coding gene "phosphoinositide-3-kinase, regulatory subunit 3 (gamma)" p55 "phosphoinositide-3-kinase regulatory subunit gamma" 1p34.1 2015-11-17 2015-11-17 BC021622 ENSG00000117461 9524259 NM_003629 741 SH2 domain containing CCDS529, CCDS76154, CCDS76155 OTTHUMG00000008096 606076 NM_001114172 Q92569 ENSG00000117461 uc001cpc.5 B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8503 false 1205PIK3R3 8503 __UNKNOWN__ hg19 1 46598273 46598273 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46598273A>C ENST00000262741.5 - 1 PIK3R3_ENST00000420542.1_Intron|PIK3R3_ENST00000372006.1_Intron|PIK3R3_ENST00000423209.1_5'UTR|PIK3R3_ENST00000354242.4_Intron|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000540385.1_Intron|RP4-533D7.5_ENST00000452785.2_5'Flank NM_003629.3 NP_003620.3 Q92569 P55G_HUMAN phosphoinositide-3-kinase regulatory subunit 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281) cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942) 1-phosphatidylinositol-3-kinase activity (GO:0016303)|phosphatidylinositol 3-kinase regulator activity (GO:0035014) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(172)|lung(323)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(24)|stomach(14)|upper_aerodigestive_tract(121) 1123 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Isoprenaline(DB01064) AACCAACCCGACCGCACCAAC 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y13809 HGNC:8981 Approved gene with protein product protein-coding gene "phosphoinositide-3-kinase, regulatory subunit 3 (gamma)" p55 "phosphoinositide-3-kinase regulatory subunit gamma" 1p34.1 2015-11-17 2015-11-17 BC021622 ENSG00000117461 9524259 NM_003629 741 SH2 domain containing CCDS529, CCDS76154, CCDS76155 OTTHUMG00000008096 606076 NM_001114172 Q92569 ENSG00000117461 uc001cpc.5 B2R9C1|D3DQ12|O60482|Q5T4P1|Q5T4P2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8503 false 1206TSPAN1 10103 __UNKNOWN__ hg19 1 46646780 46646780 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46646780A>G ENST00000372003.1 + 3 465 c.1A>G c.(1-3)Atg>Gtg p.M1V PIK3R3_ENST00000540385.1_5'Flank|TSPAN1_ENST00000498443.1_Intron|RP11-322N21.2_ENST00000506599.1_5'Flank NM_005727.3 NP_005718.2 O60635 TSN1_HUMAN tetraspanin 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982) thiamine uptake transmembrane transporter activity (GO:0015403) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGAGCCACCATGCAGTGCTT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:20657 Approved gene with protein product protein-coding gene TSPAN-1, NET-1 1p34.1 2016-10-05 BC013404 ENSG00000117472 9714763, 10719184 NM_005727 768 Tetraspanins CCDS530 OTTHUMG00000007602 613170 NM_005727 O60635 ENSG00000117472 uc001cpd.4 D3DQ14|O60745|Q5VST0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10103 false 1207NSUN4 387338 __UNKNOWN__ hg19 1 46826474 46826474 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46826474delG ENST00000474844.1 + 5 1501 c.852delG c.(850-852)ttgfs p.L284fs NSUN4_ENST00000537428.1_Frame_Shift_Del_p.L235fs|NSUN4_ENST00000536062.1_Frame_Shift_Del_p.L235fs|NSUN4_ENST00000498008.1_Intron NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun RNA methyltransferase family member 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ rRNA methylation (GO:0031167) mitochondrial large ribosomal subunit (GO:0005762) methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAGATATTGCCTGTGCTGC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:31802 Approved gene with protein product protein-coding gene "NOL1/NOP2/Sun domain family, member 4", "NOP2/Sun domain family, member 4" MGC22960, SHTAP "sperm head and tail associated protein" 1p33 2016-10-05 2015-11-17 AK021577 ENSG00000117481 NM_199044 664 NOP2/Sun RNA methyltransferase family CCDS534, CCDS57996 OTTHUMG00000007808 615394 NM_001256127 Q96CB9 ENSG00000117481 uc001cpr.3 A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 387338 false 1208RP5-1109J22.1 __UNKNOWN__ hg19 1 46905802 46905802 + RNA SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:46905802G>T ENST00000429784.2 + c.e3-536G>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAAGTTGAGATTAGGTTTT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1209MKNK1-AS1 100507423 __UNKNOWN__ hg19 1 47005597 47005597 + RNA SNP C C T 75939162 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47005597C>T ENST00000602433.1 + c.e2-1005C>T MKNK1 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCTTGGCTCCAGATTCCTG 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:44129 Approved RNA, long non-coding non-coding RNA "MKNK1 antisense RNA 1 (non-protein coding)" 1p33 2012-10-12 2012-08-15 AK097731 NR_038403 NR_038403 ENSG00000269956 uc021onb.1 true false 0.9918,0.008187 false false 1 false false false MKNK1-AS1:100507423 false true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.984271,0.0157291 false false false SNV 0x050100080005040436000100 1 false 132 rs75939162 100507423 47005597 true 1210MKNK1-AS1 100507423 __UNKNOWN__ hg19 1 47006657 47006657 + RNA SNP C C T 2486164 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47006657C>T ENST00000602433.1 + c.e2-24C>T MKNK1 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACAAGACTCCGAAGGCTTCT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:44129 Approved RNA, long non-coding non-coding RNA "MKNK1 antisense RNA 1 (non-protein coding)" 1p33 2012-10-12 2012-08-15 AK097731 NR_038403 NR_038403 ENSG00000269956 uc021onb.1 true false 0.9193,0.08067 false false 1 false true false MKNK1-AS1:100507423 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.908716,0.0912837 false false false SNV 0x05010000000515053f000100 1 false 100 rs2486164 100507423 47006657 true 1211MKNK1-AS1 100507423 __UNKNOWN__ hg19 1 47011762 47011762 + RNA SNP A A G 885125 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47011762A>G ENST00000602433.1 + c.e3+2322A>G MKNK1 antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTCTGTCGCACTGTTGTCAG 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:44129 Approved RNA, long non-coding non-coding RNA "MKNK1 antisense RNA 1 (non-protein coding)" 1p33 2012-10-12 2012-08-15 AK097731 NR_038403 NR_038403 ENSG00000269956 uc021onb.1 true false 0.4273,0.5727 false false 1 false true true MKNK1-AS1:100507423|KNCN:148930 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.473659,0.526341 false true false SNV 0x05010088000517053f000100 1 false 86 rs885125 100507423 47011762 true 1212KNCN 148930 __UNKNOWN__ hg19 1 47013404 47013404 + Nonstop_Mutation SNP A A G 140455646 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47013404A>G ENST00000396314.3 - 3 304 c.304T>C c.(304-306)Tga>Cga p.*102R KNCN_ENST00000481882.2_Nonstop_Mutation_p.*125R|MKNK1-AS1_ENST00000602433.1_RNA|KNCN_ENST00000524908.1_Intron NM_001097611.1 NP_001091080.1 A6PVL3 KNCN_HUMAN kinocilin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apical plasma membrane (GO:0016324)|ciliary basal body (GO:0036064)|cuticular plate (GO:0032437)|integral component of membrane (GO:0016021)|kinocilium (GO:0060091)|neuronal cell body (GO:0043025) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTTGCCTCAGCATTCCTCA 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DA208279 HGNC:26488 Approved gene with protein product protein-coding gene FLJ32011, KINO, L5 1p33 2014-02-12 2006-10-26 AK056573 ENSG00000162456 15855039 NM_182516 CCDS44133, CCDS81316 OTTHUMG00000007987 611455 NM_001097611 A6PVL3 ENSG00000162456 uc009vyh.2 A8MXE3 true false 0.9964,0.003594 false false 1 false false false MKNK1-AS1:100507423|KNCN:148930 false true true false true false false false false false false false false false false false false false false true false false 0 false 0 false 0.993337,0.00666255 false false false SNV 0x050000080205040426000100 1 false 134 rs140455646 148930 47013404 true 1213MOB3C 148932 __UNKNOWN__ hg19 1 47075329 47075329 + Nonstop_Mutation SNP A A G 149444077 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47075329A>G ENST00000371940.1 - 3 3793 c.718T>C c.(718-720)Tga>Cga p.*240R MOB3C_ENST00000271139.8_Nonstop_Mutation_p.*269R|MOB3C_ENST00000319928.3_Nonstop_Mutation_p.*217R|MKNK1_ENST00000545730.1_Intron Q70IA8 MOB3C_HUMAN MOB kinase activator 3C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ metal ion binding (GO:0046872) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGGGCTCAGTGGCAGATC 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:29800 Approved gene with protein product protein-coding gene MOBKL2C "MOB1, Mps One Binder kinase activator-like 2C (yeast)" MOB1E 1p33 2016-10-05 2011-09-28 2011-09-28 AK091808 ENSG00000142961 12477932 NM_145279 647 MOB kinase activators CCDS539, CCDS540 OTTHUMG00000007989 NM_145279 Q70IA8 ENSG00000142961 uc001cqf.4 D3DQ22|Q0VA98|Q5TC10|Q5TC11|Q8NAZ2|Q8NF28 true false false false false false false MOB3C:148932 false true false false false false false false false false false false false false false false false false false true false false 0 true 0 false 0.999931,6.8686e-005 false false false SNV 0x050100000205040402000100 1 false 134 rs149444077 148932 47075329 true 1214CYP4B1 1580 __UNKNOWN__ hg19 1 47264724 47264724 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47264724G>T ENST00000371923.4 + 1 CYP4B1_ENST00000271153.4_5'UTR|CYP4B1_ENST00000371919.4_5'Flank|CYP4B1_ENST00000546128.1_Intron NM_001099772.1 NP_001093242.1 P13584 CP4B1_HUMAN cytochrome P450 family 4 subfamily B member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152) AGGCAGGTCAGATGAAGGCTA 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X16699 HGNC:2644 Approved gene with protein product protein-coding gene "cytochrome P450, subfamily IVB, polypeptide 1", "cytochrome P450, family 4, subfamily B, polypeptide 1" 1p33 2015-12-09 2015-12-09 BC017758 ENSG00000142973 NM_000779 1003 Cytochrome P450 family 4 CCDS542, CCDS41328, CCDS81318 OTTHUMG00000007984 124075 NM_000779 P13584 ENSG00000142973 uc001cqm.5 Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1580 false 1215CYP4Z2P 163720 __UNKNOWN__ hg19 1 47309265 47309265 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47309265A>G ENST00000505841.1 - c.e12+415T>C Q8N1L4 CP4Z2_HUMAN cytochrome P450 family 4 subfamily Z member 2, pseudogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTTGTAGGAAAACAAGATC 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:24426 Approved pseudogene pseudogene "cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene" FLJ40054 1p33 2015-12-09 2015-12-09 AY262057 ENSG00000154198 15059886 NR_002788 1003 Cytochrome P450 family 4 OTTHUMG00000008024 NR_002788 Q8N1L4 ENSG00000154198 Q66ZJ5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 163720 false 1216CYP4Z2P 163720 __UNKNOWN__ hg19 1 47309265 47309265 + RNA SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47309265A>G ENST00000505841.1 - c.e12+415T>C Q8N1L4 CP4Z2_HUMAN cytochrome P450 family 4 subfamily Z member 2, pseudogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTTGTAGGAAAACAAGATC 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:24426 Approved pseudogene pseudogene "cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene" FLJ40054 1p33 2015-12-09 2015-12-09 AY262057 ENSG00000154198 15059886 NR_002788 1003 Cytochrome P450 family 4 OTTHUMG00000008024 NR_002788 Q8N1L4 ENSG00000154198 Q66ZJ5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 163720 false 1217CYP4Z2P 163720 __UNKNOWN__ hg19 1 47326226 47326226 + RNA SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47326226T>C ENST00000505841.1 - c.e9+767A>G Q8N1L4 CP4Z2_HUMAN cytochrome P450 family 4 subfamily Z member 2, pseudogene __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAATGCTAGATATTGGTTCAT 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:24426 Approved pseudogene pseudogene "cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene" FLJ40054 1p33 2015-12-09 2015-12-09 AY262057 ENSG00000154198 15059886 NR_002788 1003 Cytochrome P450 family 4 OTTHUMG00000008024 NR_002788 Q8N1L4 ENSG00000154198 Q66ZJ5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 163720 false 1218CYP4A11 1579 __UNKNOWN__ hg19 1 47400134 47400134 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47400134delG ENST00000310638.4 - 7 921 c.888delC c.(886-888)ctcfs p.L297fs CYP4A11_ENST00000462347.1_Frame_Shift_Del_p.G246fs|CYP4A11_ENST00000371905.1_Frame_Shift_Del_p.L297fs|CYP4A11_ENST00000371904.4_Frame_Shift_Del_p.L298fs|CYP4A11_ENST00000457840.2_Frame_Shift_Del_p.G142fs|CYP4A11_ENST00000496519.1_5'Flank NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450 family 4 subfamily A member 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|pancreas(22) 194 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755) CTTTGGCCAAGAGGAGGATAT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X71480 HGNC:2642 Approved gene with protein product protein-coding gene CYP4A2 "cytochrome P450, subfamily IVA, polypeptide 11", "cytochrome P450, family 4, subfamily A, polypeptide 11" CYP4AII 1p33 2015-12-09 2015-12-09 L04751 ENSG00000187048 7679927 NM_000778 1003 Cytochrome P450 family 4 CCDS543 OTTHUMG00000008020 601310 NM_000778 Q02928 ENSG00000187048 uc001cqp.5 Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1579 false 1219CYP4A11 1579 __UNKNOWN__ hg19 1 47400149 47400149 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47400149delA ENST00000310638.4 - 7 906 c.873delT c.(871-873)tttfs p.L292fs CYP4A11_ENST00000462347.1_Frame_Shift_Del_p.S240fs|CYP4A11_ENST00000371905.1_Frame_Shift_Del_p.L292fs|CYP4A11_ENST00000371904.4_Frame_Shift_Del_p.L293fs|CYP4A11_ENST00000457840.2_Frame_Shift_Del_p.S136fs|CYP4A11_ENST00000496519.1_5'Flank NM_000778.3 NP_000769.2 Q02928 CP4AB_HUMAN cytochrome P450 family 4 subfamily A member 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805) apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|pancreas(22) 194 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755) GGATATCCAGAAAATCCAAAT 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X71480 HGNC:2642 Approved gene with protein product protein-coding gene CYP4A2 "cytochrome P450, subfamily IVA, polypeptide 11", "cytochrome P450, family 4, subfamily A, polypeptide 11" CYP4AII 1p33 2015-12-09 2015-12-09 L04751 ENSG00000187048 7679927 NM_000778 1003 Cytochrome P450 family 4 CCDS543 OTTHUMG00000008020 601310 NM_000778 Q02928 ENSG00000187048 uc001cqp.5 Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1579 false 1220CYP4X1 260293 __UNKNOWN__ hg19 1 47514284 47514284 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47514284delG ENST00000371901.3 + 10 1504 c.1255delG c.(1255-1257)gtcfs p.V419fs CYP4X1_ENST00000538609.1_Frame_Shift_Del_p.V418fs NM_178033.1 NP_828847.1 Q8N118 CP4X1_HUMAN cytochrome P450 family 4 subfamily X member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACCCTGCTGTCTGGAAAAA 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:20244 Approved gene with protein product protein-coding gene "cytochrome P450, family 4, subfamily X, polypeptide 1" MGC40051 1p33 2015-12-09 2015-12-09 AK091806 ENSG00000186377 12176035 NM_178033 1003 Cytochrome P450 family 4 CCDS544 OTTHUMG00000008017 614999 NM_001320289 Q8N118 ENSG00000186377 uc001cqt.3 G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 260293 false 1221CYP4A22 284541 __UNKNOWN__ hg19 1 47610058 47610058 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47610058delC ENST00000371891.3 + 7 850 c.820delC c.(820-822)ctafs p.L274fs CYP4A22_ENST00000371890.3_Frame_Shift_Del_p.T222fs|CYP4A22_ENST00000294337.3_Frame_Shift_Del_p.L274fs|CYP4A22-AS1_ENST00000444042.2_RNA|CYP4A22_ENST00000485117.1_Intron NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450 family 4 subfamily A member 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506) biliary_tract(2)|breast(32)|central_nervous_system(44)|large_intestine(35)|lung(1)|pancreas(22) 136 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGGCTCAACTACAGAAGGA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(88;1240 1470 2099 14214 37557) BC148248 HGNC:20575 Approved gene with protein product protein-coding gene "cytochrome P450, family 4, subfamily A, polypeptide 22" 1p33 2015-12-09 2015-12-09 ENSG00000162365 XM_208213 1003 Cytochrome P450 family 4 CCDS30707, CCDS76160 OTTHUMG00000007845 615341 NM_001010969 Q5TCH4 ENSG00000162365 uc001cqv.2 Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 284541 false 1222RP11-511I2.2 __UNKNOWN__ hg19 1 47854514 47854514 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47854514C>T ENST00000420876.1 - c.e2+2486G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAGATAGTCCGGGGTAGGTG 0.49875311720698257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1223RP11-511I2.2 __UNKNOWN__ hg19 1 47867150 47867150 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47867150G>A ENST00000420876.1 - c.e1-6842C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACTCCAGAGGGCAGGGATTT 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1224RP11-511I2.2 __UNKNOWN__ hg19 1 47868005 47868005 + RNA SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47868005C>T ENST00000420876.1 - c.e1-5987G>A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCCCAGGACGCTTGGCTTT 0.49625935162094764 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1225RP11-511I2.2 __UNKNOWN__ hg19 1 47870271 47870271 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:47870271G>A ENST00000420876.1 - c.e1-3721C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCAAACACTGGGTTTCACAC 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1226SKINTL __UNKNOWN__ hg19 1 48630438 48630438 + RNA SNP G G C 10788882 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:48630438G>C ENST00000453388.1 - c.e5+56C>G A8MVG2 SKIT1_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTGGGAATGGGATTTTGAT 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ true false 0.3618,0.6382 false false 1 false true true SKINT1L:391037 true true false true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.31496,0.68504 false false false SNV 0x05012800000517053f000100 1 false 120 rs10788882 48630438 true 1227RP11-567C20.3 __UNKNOWN__ hg19 1 50673575 50673575 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:50673575G>A ENST00000440897.1 - c.e2+1595C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAAAAGCAGGAAAGGAAAT 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1228RP11-567C20.3 __UNKNOWN__ hg19 1 50679059 50679059 + RNA SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:50679059G>A ENST00000440897.1 - c.e2+7079C>T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTCAATGGTGTCCCTAGGCT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1229TTC39A 22996 __UNKNOWN__ hg19 1 51770774 51770774 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:51770774delA ENST00000262676.5 - 8 891 c.729delT c.(727-729)tttfs p.F243fs TTC39A_ENST00000447632.2_Frame_Shift_Del_p.F247fs|TTC39A_ENST00000413473.2_Frame_Shift_Del_p.F215fs|TTC39A_ENST00000262675.7_Frame_Shift_Del_p.F184fs|TTC39A_ENST00000371750.5_Frame_Shift_Del_p.F212fs|TTC39A_ENST00000371747.3_Frame_Shift_Del_p.F246fs|TTC39A_ENST00000451380.1_Frame_Shift_Del_p.F211fs Q5SRH9 TT39A_HUMAN tetratricopeptide repeat domain 39A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAACCCCACAAACTCCAACA 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CX788693 HGNC:18657 Approved gene with protein product protein-coding gene C1orf34 "chromosome 1 open reading frame 34" KIAA0452, DEME-6 1p32.3 2015-08-26 2008-06-23 2008-06-23 AB007921 ENSG00000085831 9455484, 9461476 769 Tetratricopeptide repeat domain containing CCDS44143, CCDS44144, CCDS72789, CCDS72790, CCDS76162, CCDS76163 OTTHUMG00000008193 NM_001080494 Q5SRH9 ENSG00000085831 uc001csl.4 B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22996 false 1230TXNDC12 51060 __UNKNOWN__ hg19 1 52521798 52521798 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:52521798G>T ENST00000371626.4 - 1 BTF3L4_ENST00000313334.8_5'UTR|BTF3L4_ENST00000472944.2_5'Flank|BTF3L4_ENST00000484036.1_5'Flank|BTF3L4_ENST00000489308.2_5'Flank|TXNDC12_ENST00000610127.1_5'Flank|BTF3L4_ENST00000533836.1_5'Flank NM_015913.3 NP_056997.1 O95881 TXD12_HUMAN thioredoxin domain containing 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell redox homeostasis (GO:0045454) endoplasmic reticulum (GO:0005783) protein-disulfide reductase (glutathione) activity (GO:0019153) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143) GAGACTGCAAGCCCCAGGATG 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC008953 HGNC:24626 Approved gene with protein product protein-coding gene "thioredoxin domain containing 12 (endoplasmic reticulum)" TLP19, ERP18, ERP19, hAG-1, AGR1, PDIA16 "endoplasmic reticulum thioredoxin superfamily member, 18 kDa", "anterior gradient homolog 1 (Xenopus laevis)", "protein disulfide isomerase family A, member 16" 1p32.3 2016-03-31 2016-03-31 AF131758 ENSG00000117862 8619474, 9110174 NM_015913 692 Protein disulfide isomerases CCDS561 OTTHUMG00000008629 609448 NM_015913 O95881 ENSG00000117862 uc001cti.5 B3KQS0|Q5T1T4|Q96H50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51060 false 1231ORC1 4998 __UNKNOWN__ hg19 1 52859336 52859336 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:52859336delA ENST00000371568.3 - 6 1081 c.861delT c.(859-861)tctfs p.P288fs ORC1_ENST00000371566.1_Frame_Shift_Del_p.P288fs NM_004153.3 NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083) cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear origin of replication recognition complex (GO:0005664)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(22)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 161 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGAGCTGGAGACAAGGTTT 0.4463840399002494 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U43416 HGNC:8487 Approved gene with protein product protein-coding gene ORC1L "origin recognition complex, subunit 1 (yeast homolog)-like", "origin recognition complex, subunit 1-like (yeast)", "origin recognition complex, subunit 1 homolog (S. cerevisiae)", "origin recognition complex, subunit 1" HSORC1, PARC1 "origin recognition complex, subunit 1, S. cerevisiae, homolog-like", "origin recognition complex 1", "replication control protein 1" 1p32.3 2016-10-05 2010-10-12 2015-11-12 ENSG00000085840 8884289 NM_004153 413|960 AAA ATPases|Origin recognition complex CCDS566 OTTHUMG00000008104 601902 NM_001190818 Q13415 ENSG00000085840 uc001ctt.4 D3DQ34|Q13471|Q5T0F5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4998 false 1232SELRC1 __UNKNOWN__ hg19 1 53158511 53158524 + Frame_Shift_Del DEL TTCCAAATAGTCCA TTCCAAATAGTCCA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53158511_53158524delTTCCAAATAGTCCA ENST00000371538.3 - 2 176_189 c.122_135delTGGACTATTTGGAA c.(121-138)gtggactatttggaagggfs p.V41fs SELRC1_ENST00000486918.1_Intron NM_023077.2 NP_075565.2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGGATCCCTTCCAAATAGTCCACCAGCCGATA 0.5289855072463768 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC015313 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1233SELRC1 __UNKNOWN__ hg19 1 53163902 53163902 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53163902delC ENST00000371538.3 - 1 138 c.97delG c.(97-99)gacfs p.D33fs SELRC1_ENST00000486918.1_5'Flank NM_023077.2 NP_075565.2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGTCCGGGTCCTTCTCGTGG 0.6982543640897756 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC015313 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1234LRP8 7804 __UNKNOWN__ hg19 1 53741391 53741391 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:53741391A>G ENST00000465675.1 - 5 LRP8_ENST00000347547.2_Intron|LRP8_ENST00000306052.6_Silent_p.C306C|LRP8_ENST00000371454.2_Silent_p.C306C|LRP8_ENST00000354412.3_Silent_p.C177C Q14114 LRP8_HUMAN LDL receptor related protein 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165) caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235) apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|large_intestine(11)|lung(2)|pancreas(22) 160 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCCATCCCCACACTGGAACT 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL606760 HGNC:6700 Approved gene with protein product protein-coding gene "low density lipoprotein receptor-related protein 8, apolipoprotein e receptor" APOER2, MCI1, LRP-8, HSZ75190 1p32.3 2015-11-13 2015-11-13 D50678 ENSG00000157193 8626535, 9079678 NM_004631 634 Low density lipoprotein receptors CCDS578, CCDS579, CCDS580, CCDS30720 OTTHUMG00000008924 602600 NM_001018054 Q14114 ENSG00000157193 uc001cvi.4 B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7804 false 1235YIPF1 54432 __UNKNOWN__ hg19 1 54354613 54354613 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:54354613G>A ENST00000072644.1 - 3 YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Nonsense_Mutation_p.R25*|YIPF1_ENST00000469457.1_Intron|DIO1_ENST00000534069.1_5'Flank NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGCCATTCGGCCAGTGAGT 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:25231 Approved gene with protein product protein-coding gene "Yip1 domain family, member 1" DJ167A19.1, FinGER1 1p32.3 2016-10-05 2015-11-11 BC009674 ENSG00000058799 12477932 NM_018982 105 Yip1 domain containing CCDS584 OTTHUMG00000008074 617521 NM_018982 Q9Y548 ENSG00000058799 uc001cvu.4 B2RCM7|D3DQ40|Q9NWJ1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54432 false 1236YIPF1 54432 __UNKNOWN__ hg19 1 54354658 54354658 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:54354658T>G ENST00000072644.1 - 3 YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P|YIPF1_ENST00000469457.1_Splice_Site|DIO1_ENST00000534069.1_5'Flank NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTGCAGGGTTCTAAAAGAA 0.36658354114713215 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:25231 Approved gene with protein product protein-coding gene "Yip1 domain family, member 1" DJ167A19.1, FinGER1 1p32.3 2016-10-05 2015-11-11 BC009674 ENSG00000058799 12477932 NM_018982 105 Yip1 domain containing CCDS584 OTTHUMG00000008074 617521 NM_018982 Q9Y548 ENSG00000058799 uc001cvu.4 B2RCM7|D3DQ40|Q9NWJ1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54432 false 1237YIPF1 54432 __UNKNOWN__ hg19 1 54354658 54354658 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:54354658T>G ENST00000072644.1 - 3 YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000539954.1_Splice_Site_p.T10P|YIPF1_ENST00000469457.1_Splice_Site|DIO1_ENST00000534069.1_5'Flank NM_018982.4 NP_061855.1 Q9Y548 YIPF1_HUMAN Yip1 domain family member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTGCAGGGTTCTAAAAGAA 0.36658354114713215 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:25231 Approved gene with protein product protein-coding gene "Yip1 domain family, member 1" DJ167A19.1, FinGER1 1p32.3 2016-10-05 2015-11-11 BC009674 ENSG00000058799 12477932 NM_018982 105 Yip1 domain containing CCDS584 OTTHUMG00000008074 617521 NM_018982 Q9Y548 ENSG00000058799 uc001cvu.4 B2RCM7|D3DQ40|Q9NWJ1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54432 false 1238LRRC42 115353 __UNKNOWN__ hg19 1 54433404 54433404 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:54433404delC ENST00000371370.3 + 9 1599 c.1079delC c.(1078-1080)tccfs p.E361fs LRRC42_ENST00000319223.4_Frame_Shift_Del_p.E361fs|LRRC42_ENST00000477905.1_Splice_Site NM_001256409.1 NP_001243338.1 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGAACTCTTCCGAGAAACTC 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:28792 Approved gene with protein product protein-coding gene MGC8974 1p32.3 2016-10-05 AK075201 ENSG00000116212 12477932 NM_052940 CCDS585 OTTHUMG00000008436 NM_001256409 Q9Y546 ENSG00000116212 uc001cwk.3 D3DQ46|Q8N2Q8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 115353 false 1239AL357673.1 __UNKNOWN__ hg19 1 54637167 54637167 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:54637167T>C ENST00000536061.1 - 1 RP11-446E24.4_ENST00000311841.7_Intron|RP11-446E24.4_ENST00000525949.1_Intron __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTGACGTTGGTAAACATG 0.5461346633416458 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1240MROH7 374977 __UNKNOWN__ hg19 1 55134546 55134546 + Frame_Shift_Del DEL T T - 772326202 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55134546delT ENST00000421030.2 + 5 1609 c.1325delT c.(1324-1326)cttfs p.Q443fs MROH7_ENST00000395690.2_Frame_Shift_Del_p.Q443fs|MROH7_ENST00000409996.1_Frame_Shift_Del_p.Q11fs|MROH7_ENST00000339553.5_Frame_Shift_Del_p.Q443fs|MROH7_ENST00000545244.1_Frame_Shift_Del_p.Q11fs|MROH7_ENST00000454855.2_5'UTR|MROH7-TTC4_ENST00000414150.2_Frame_Shift_Del_p.Q443fs NM_001039464.2 NP_001034553.2 Q68CQ1 MROH7_HUMAN maestro heat like repeat family member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular space (GO:0005615)|integral component of membrane (GO:0016021) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCACCACCCTTCAGAAGAGC 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749830 HGNC:24802 Approved gene with protein product protein-coding gene C1orf175, HEATR8 "chromosome 1 open reading frame 175", "HEAT repeat containing 8", "maestro heat-like repeat family member 7" FLJ46354 1p32.3 2016-01-22 2012-12-19 2016-01-22 AL832492 ENSG00000184313 12477932 NM_198547 636 Maestro heat like repeat containing CCDS41342 OTTHUMG00000009890 NM_001039464 Q68CQ1 ENSG00000184313 uc010ooe.2 A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14 true false false false false false false MROH7:374977|MROH7-TTC4:100527960 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false 0.999931,6.8686e-005 false false true DIV 0x050000401205040402000200 1 false 144 rs772326202 374977 55134546 true 1241TTC4 7268 __UNKNOWN__ hg19 1 55207184 55207185 + Frame_Shift_Ins INS - - AG 775455587 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55207184_55207185insAG ENST00000371281.3 + 10 1249 c.1162_1163insAG c.(1162-1164)tgafs p.L389fs TTC4_ENST00000371284.5_Intron|MROH7-TTC4_ENST00000414150.2_3'UTR NM_004623.4 NP_004614.3 O95801 TTC4_HUMAN tetratricopeptide repeat domain 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGATACGATGACTAAGCCA 0.51 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:12394 Approved gene with protein product protein-coding gene MGC5097, FLJ41930, CNS1 1p32.3 2017-05-19 ENSG00000243725 9933562 NM_004623 769 Tetratricopeptide repeat domain containing CCDS596 OTTHUMG00000009914 606753 NM_001291333 O95801 ENSG00000243725 uc001cxx.5 Q53Y95|Q5TA96|Q9H3I2 true false false false false false false TTC4:7268|MROH7-TTC4:100527960 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true false false false DIV 0x050000000305040402000200 1 false 144 rs775455587 7268 55207184 true 1242C1orf177 __UNKNOWN__ hg19 1 55273583 55273583 + Frame_Shift_Del DEL T T - 761239382 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55273583delT ENST00000371273.3 + 4 393 c.379delT c.(379-381)tccfs p.S127fs C1orf177_ENST00000358193.3_Frame_Shift_Del_p.S127fs NM_001110533.1 NP_001104003.1 Q3ZCV2 CA177_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCCCCGGCTCCTACAACCT 0.543640897755611 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC064142 B7WPL2|Q8N7Y9 true false false false false false false LEXM:163747 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040002000200 1 false 144 rs761239382 55273583 true 1243C1orf177 __UNKNOWN__ hg19 1 55307524 55307524 + Frame_Shift_Del DEL A A - 777519771 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:55307524delA ENST00000371273.3 + 10 1249 c.1235delA c.(1234-1236)tacfs p.Y412fs C1orf177_ENST00000358193.3_3'UTR NM_001110533.1 NP_001104003.1 Q3ZCV2 CA177_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTGTGGATTACAATTCAGAT 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC064142 B7WPL2|Q8N7Y9 true false false false false false false LEXM:163747 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false true false DIV 0x050000801205000402000200 1 false 144 rs777519771 55307524 false 1244C1orf168 __UNKNOWN__ hg19 1 57258131 57258131 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:57258131delG ENST00000343433.6 - 2 437 c.355delC c.(355-357)caafs p.Q119fs C1orf168_ENST00000484327.1_Intron NM_001004303.4 NP_001004303.3 Q5VWT5 CA168_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATTTGATTGAGTCACCTCT 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX648439 Q63HM3|Q6ZUY6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1245C8A 731 __UNKNOWN__ hg19 1 57351823 57351823 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:57351823delC ENST00000361249.3 + 7 1174 c.1079delC c.(1078-1080)gcafs p.A360fs NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement C8 alpha chain __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTGACAAAGCAAAAATGGAA 0.40648379052369077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U08006 HGNC:1352 Approved gene with protein product protein-coding gene "complement component 8, alpha polypeptide", "complement component 8 alpha subunit" 1p32.2 2017-03-24 2016-08-10 M16974 ENSG00000157131 NM_000562 492 Complement system CCDS606 OTTHUMG00000008306 120950 NM_000562 P07357 ENSG00000157131 uc001cyo.3 A2RUI4|A2RUI5|Q13668|Q9H130 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 731 false 1246FGGY 55277 __UNKNOWN__ hg19 1 60228227 60228230 + Frame_Shift_Del DEL GAGT GAGT - 747593219 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:60228227_60228230delGAGT ENST00000371218.4 + 17 1882_1885 c.1699_1702delGAGT c.(1699-1704)gagtatfs p.E567fs FGGY_ENST00000371212.1_Frame_Shift_Del_p.E455fs|FGGY_ENST00000303721.7_Frame_Shift_Del_p.E543fs|FGGY_ENST00000371210.1_Frame_Shift_Del_p.E244fs|RP4-782L23.2_ENST00000443012.1_RNA NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050) kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) biliary_tract(2)|breast(1)|central_nervous_system(44)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCAGAAGGAGTATTTGGCGAT 0.3886138613861386 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:25610 Approved gene with protein product protein-coding gene FLJ10986 1p32.1 2015-09-11 ENSG00000172456 17671248 NM_001113411 CCDS611, CCDS44155, CCDS58003, CCDS60155 OTTHUMG00000008424 611370 NM_001113411 Q96C11 ENSG00000172456 uc001czi.6 B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20 true false false false false false false FGGY:55277 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205040402000200 1 false 144 rs747593219 55277 60228227 true 1247FGGY 55277 __UNKNOWN__ hg19 1 60228254 60228254 + Nonstop_Mutation SNP T T C 201875327 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:60228254T>C ENST00000371218.4 + 17 1910 c.1726T>C c.(1726-1728)Tga>Cga p.*576R FGGY_ENST00000371212.1_Nonstop_Mutation_p.*464R|FGGY_ENST00000303721.7_Nonstop_Mutation_p.*552R|FGGY_ENST00000371210.1_Nonstop_Mutation_p.*253R|RP4-782L23.2_ENST00000443012.1_RNA NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050) kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773) biliary_tract(2)|breast(1)|central_nervous_system(44)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATGATGACTGAACAGGGCT 0.3765586034912718 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:25610 Approved gene with protein product protein-coding gene FLJ10986 1p32.1 2015-09-11 ENSG00000172456 17671248 NM_001113411 CCDS611, CCDS44155, CCDS58003, CCDS60155 OTTHUMG00000008424 611370 NM_001113411 Q96C11 ENSG00000172456 uc001czi.6 B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20 true false 0.9996,0.0003994,. false false 0 false false false FGGY:55277 false true false true true false false false false false false false false false false false false false false true false false 0 false 0 false 0.999897,.,0.000103029 false false false SNV 0x050000000205040436000100 1 false 137 rs201875327 55277 60228254 true 1248CYP2J2 1573 __UNKNOWN__ hg19 1 60359360 60359360 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:60359360delG ENST00000371204.3 - 9 1517 c.1472delC c.(1471-1473)ccafs p.P491fs CYP2J2_ENST00000492633.1_Intron NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450 family 2 subfamily J member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789) arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(1)|oesophagus(1)|pancreas(22) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228) GTGACTGACTGGGGAAATGGT 0.4513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U37143 HGNC:2634 Approved gene with protein product protein-coding gene "cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2", "cytochrome P450, family 2, subfamily J, polypeptide 2" 1p32.1 2016-10-05 2015-12-09 BC032594 ENSG00000134716 9570962 NM_000775 1001 Cytochrome P450 family 2 CCDS613 OTTHUMG00000008991 601258 NM_000775 P51589 ENSG00000134716 uc001czq.4 B2RD33|Q8TF13 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1573 false 1249C1orf87 127795 __UNKNOWN__ hg19 1 60491130 60491130 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:60491130delA ENST00000371201.3 - 8 1179 c.1070delT c.(1069-1071)ctgfs p.L357fs C1orf87_ENST00000450089.2_Frame_Shift_Del_p.L128fs NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion binding (GO:0005509) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGCAGGCTCAGGGTCAGATA 0.3341645885286783 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(75;811 1386 4923 13371 51772) BC042203 HGNC:28547 Approved gene with protein product protein-coding gene MGC34837, CREF "carcinoma-related EF-hand protein" 1p32.1 2016-09-30 AK124828 ENSG00000162598 25048349 NM_152377 CCDS614 OTTHUMG00000008992 NM_152377 Q8N0U7 ENSG00000162598 uc001czs.3 Q6ZU07|Q8IVS0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127795 false 1250C1orf87 127795 __UNKNOWN__ hg19 1 60503685 60503685 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:60503685delC ENST00000371201.3 - 6 951 c.842delG c.(841-843)agtfs p.S281fs C1orf87_ENST00000450089.2_Intron NM_152377.2 NP_689590.1 Q8N0U7 CA087_HUMAN chromosome 1 open reading frame 87 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion binding (GO:0005509) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGCCATGACTCTCAGTTTT 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(75;811 1386 4923 13371 51772) BC042203 HGNC:28547 Approved gene with protein product protein-coding gene MGC34837, CREF "carcinoma-related EF-hand protein" 1p32.1 2016-09-30 AK124828 ENSG00000162598 25048349 NM_152377 CCDS614 OTTHUMG00000008992 NM_152377 Q8N0U7 ENSG00000162598 uc001czs.3 Q6ZU07|Q8IVS0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127795 false 1251INADL __UNKNOWN__ hg19 1 62235088 62235088 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:62235088delC ENST00000371158.2 + 5 631 c.518delC c.(517-519)gcafs p.A173fs INADL_ENST00000316485.6_Frame_Shift_Del_p.A173fs NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(99)|pancreas(22)|soft_tissue(12) 201 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGTGTAGCAGACAGGTGA 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021135 O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1252INADL __UNKNOWN__ hg19 1 62586958 62586958 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:62586958delA ENST00000371158.2 + 38 5109 c.4996delA c.(4996-4998)aaafs p.N1667fs INADL_ENST00000472512.1_Intron NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(99)|pancreas(22)|soft_tissue(12) 201 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTTCCCAGAAAAATTCAGG 0.42643391521197005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021135 O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1253L1TD1 54596 __UNKNOWN__ hg19 1 62672472 62672472 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:62672472delT ENST00000498273.1 + 3 466 c.172delT c.(172-174)ttafs p.L58fs Y_RNA_ENST00000363304.1_5'Flank NM_019079.4 NP_061952.3 Q5T7N2 LITD1_HUMAN LINE1 type transposase domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTAAGGTCTTAATGGAAAT 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC111559 HGNC:25595 Approved gene with protein product protein-coding gene FLJ10884, ECAT11 1p31.3 2016-06-13 2016-06-13 BC060808 ENSG00000240563 12477932 NM_019079 CCDS619 OTTHUMG00000008914 NM_001164835 Q5T7N2 ENSG00000240563 uc001dae.6 Q8NDA1|Q9NUV8|Q9NV78 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54596 false 1254ATG4C 84938 __UNKNOWN__ hg19 1 63282435 63282435 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:63282435delA ENST00000317868.4 + 4 556 c.350delA c.(349-351)cagfs p.Q117fs ATG4C_ENST00000371120.3_Frame_Shift_Del_p.Q117fs NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C cysteine peptidase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576) cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233) ATG4C{ENST00000371120}:r.1_1368_FBXO38{ENST00000340253}:r.1433_4424(2) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAACTGGCCAGATGCTCTTG 0.371571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:16040 Approved gene with protein product protein-coding gene AUTL1, APG4C "AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)", "autophagy related 4C, cysteine peptidase" FLJ14867, AUTL3 1p31.3 2016-02-23 2005-09-11 2016-02-23 AK027773 ENSG00000125703 12446702 NM_032852 1022 Autophagy related CCDS623 OTTHUMG00000009142 611339 NM_032852 Q96DT6 ENSG00000125703 uc001dat.5 A6NLR8|D3DQ58|Q96K04 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84938 false 1255ATG4C 84938 __UNKNOWN__ hg19 1 63300483 63300483 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:63300483delA ENST00000317868.4 + 9 1255 c.1049delA c.(1048-1050)caafs p.Q350fs ATG4C_ENST00000371120.3_Frame_Shift_Del_p.Q350fs NM_032852.3 NP_116241.2 Q96DT6 ATG4C_HUMAN autophagy related 4C cysteine peptidase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ autophagic vacuole assembly (GO:0000045)|autophagy (GO:0006914)|protein targeting to membrane (GO:0006612)|proteolysis (GO:0006508) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576) cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233) ATG4C{ENST00000371120}:r.1_1368_FBXO38{ENST00000340253}:r.1433_4424(2) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTACTGCCAATCTTTTGTA 0.3341645885286783 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:16040 Approved gene with protein product protein-coding gene AUTL1, APG4C "AUT (S. cerevisiae)-like 1, cysteine endopeptidase; AUT-like 1, cysteine endopeptidase (S. cerevisiae)", "APG4 autophagy 4 homolog C (S. cerevisiae)", "ATG4 autophagy related 4 homolog C (S. cerevisiae)", "autophagy related 4C, cysteine peptidase" FLJ14867, AUTL3 1p31.3 2016-02-23 2005-09-11 2016-02-23 AK027773 ENSG00000125703 12446702 NM_032852 1022 Autophagy related CCDS623 OTTHUMG00000009142 611339 NM_032852 Q96DT6 ENSG00000125703 uc001dat.5 A6NLR8|D3DQ58|Q96K04 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84938 false 1256ALG6 29929 __UNKNOWN__ hg19 1 63902554 63902555 + Frame_Shift_Del DEL CC CC - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:63902554_63902555delCC ENST00000263440.4 + 14 1600_1601 c.1393_1394delCC c.(1393-1395)cctfs p.P465fs ALG6_ENST00000371108.4_Frame_Shift_Del_p.P463fs|ALG6_ENST00000494765.1_Intron Q9Y672 ALG6_HUMAN ALG6, alpha-1,3-glucosyltransferase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020) glucosyltransferase activity (GO:0046527) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTGGATCCTCCTCAGAAACTA 0.35572139303482586 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL592218 HGNC:23157 Approved gene with protein product protein-coding gene "asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)", "asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)" "dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase" 1p31.3 2014-11-19 2013-03-01 AF063604 2.4.1.267 ENSG00000088035 10359825, 11875054 NM_013339 447 Alpha-1,3-glucosyltransferases CCDS30735 OTTHUMG00000009140 604566 NM_013339 Q9Y672 ENSG00000088035 uc021oof.1 B3KMU2|Q5SXR9|Q9H3I0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 29929 false 1257EFCAB7 84455 __UNKNOWN__ hg19 1 63999794 63999795 + Frame_Shift_Del DEL AA AA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:63999794_63999795delAA ENST00000371088.4 + 6 956_957 c.711_712delAA c.(709-714)gcaaccfs p.T238fs RN7SL488P_ENST00000585186.1_5'Flank NM_032437.2 NP_115813.2 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium ion binding (GO:0005509) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACTGTCAGCAACCAGGAAGTT 0.32587064676616917 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:29379 Approved gene with protein product protein-coding gene KIAA1799, RP4-534K7.1 1p31.3 2014-11-19 BC015814 ENSG00000203965 11347906 NM_032437 863 EF-hand domain containing CCDS30737 OTTHUMG00000008983 617632 NM_032437 A8K855 ENSG00000203965 uc001dbf.4 Q658P0|Q96B95|Q96JM6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84455 false 1258UBE2U 148581 __UNKNOWN__ hg19 1 64669795 64669799 + Splice_Site DEL ATAAG ATAAG - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:64669795_64669799delATAAG ENST00000371076.3 + 1 305_309 c.62_66delATAAG c.(61-66)tataagfs p.Y21fs NM_152489.1 NP_689702.1 Q5VVX9 UBE2U_HUMAN ubiquitin conjugating enzyme E2 U (putative) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein ubiquitination (GO:0016567) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|pancreas(22) 178 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGAACAATTATAAGGTAAGTACTG 0.3654320987654321 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_DEL BC029895 HGNC:28559 Approved gene with protein product protein-coding gene "ubiquitin-conjugating enzyme E2U (putative)" MGC35130 1p31.3 2016-03-14 2016-03-14 BC029895 ENSG00000177414 12477932 NM_152489 102 Ubiquitin conjugating enzymes E2 CCDS627 OTTHUMG00000009023 NM_152489 Q5VVX9 ENSG00000177414 uc001dbn.1 Q8N1D4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148581 false 1259UBE2U 148581 __UNKNOWN__ hg19 1 64676468 64676468 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:64676468delC ENST00000371076.3 + 4 528 c.285delC c.(283-285)aacfs p.P96fs UBE2U_ENST00000464349.1_5'Flank NM_152489.1 NP_689702.1 Q5VVX9 UBE2U_HUMAN ubiquitin conjugating enzyme E2 U (putative) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein ubiquitination (GO:0016567) acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(11)|pancreas(22) 178 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTGGACAACCCTGAGAAGT 0.30423940149625933 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029895 HGNC:28559 Approved gene with protein product protein-coding gene "ubiquitin-conjugating enzyme E2U (putative)" MGC35130 1p31.3 2016-03-14 2016-03-14 BC029895 ENSG00000177414 12477932 NM_152489 102 Ubiquitin conjugating enzymes E2 CCDS627 OTTHUMG00000009023 NM_152489 Q5VVX9 ENSG00000177414 uc001dbn.1 Q8N1D4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148581 false 1260WDR78 79819 __UNKNOWN__ hg19 1 67288063 67288064 + Frame_Shift_Ins INS - - CT 754415129 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:67288063_67288064insCT ENST00000371026.3 - 16 2533 c.2476_2477insAG c.(2476-2478)actfs p.T826fs WDR78_ENST00000431318.1_Frame_Shift_Ins_p.T539fs|RP11-342H21.2_ENST00000456389.1_5'Flank NM_024763.4 NP_079039.4 Q5VTH9 WDR78_HUMAN WD repeat domain 78 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ hematopoietic progenitor cell differentiation (GO:0002244) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCAAAACAGTAGGCATATT 0.3275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC032406 HGNC:26252 Approved gene with protein product protein-coding gene DIC4, FLJ23129 1p31.3 2016-10-05 2013-02-19 2013-02-19 BX648840 ENSG00000152763 21953912 NM_024763 362 WD repeat domain containing CCDS635, CCDS44157 OTTHUMG00000009165 NM_024763 Q5VTH9 ENSG00000152763 uc001dcx.5 A8K9W5|B5MDT3|H7BY80|Q5VTI0|Q8N5G5|Q9H5R9|Q9UF44 true false false false false false false WDR78:79819 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs754415129 79819 67288063 false 1261SLC35D1 23169 __UNKNOWN__ hg19 1 67474835 67474836 + Frame_Shift_Del DEL AA AA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:67474835_67474836delAA ENST00000235345.5 - 11 979_980 c.891_892delTT c.(889-891)actfs p.I299fs SLC35D1_ENST00000506472.2_Frame_Shift_Del_p.I220fs NM_015139.2 NP_055954.1 Q9NTN3 S35D1_HUMAN solute carrier family 35 member D1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) UDP-glucuronic acid transmembrane transporter activity (GO:0005461) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCCAATATAAGTTATTAATA 0.26616915422885573 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D87449 HGNC:20800 Approved gene with protein product protein-coding gene "solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1", "solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1" UGTREL7, KIAA0260 1p31.3 2016-02-17 2016-02-17 AB044343 ENSG00000116704 11322953 NM_015139 752 Solute carriers CCDS636 OTTHUMG00000009360 610804 NM_015139 Q9NTN3 ENSG00000116704 uc001ddk.3 A8K185|B7Z3X2|Q52LU5|Q92548 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23169 false 1262IL12RB2 3595 __UNKNOWN__ hg19 1 67773351 67773351 + DE_NOVO_START_OUT_FRAME SNP C C T 12142823 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:67773351C>T ENST00000262345.1 + 1 IL12RB2_ENST00000371000.1_DE_NOVO_START_OUT_FRAME|IL12RB2_ENST00000541374.1_5'Flank|IL12RB2_ENST00000544434.1_5'Flank NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor subunit beta 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496) external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887) cytokine receptor activity (GO:0004896) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAAACCACGGGCGCCCGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U64198 HGNC:5972 Approved gene with protein product protein-coding gene "interleukin 12 receptor, beta 2" 1p31.3 2016-10-05 2015-12-11 U64198 ENSG00000081985 9284929, 8943050 NM_001559 555|602 Fibronectin type III domain containing|Interleukin receptors CCDS638, CCDS58006, CCDS58007, CCDS72805 OTTHUMG00000009094 601642 NM_001258214 Q99665 ENSG00000081985 uc001ddu.3 B1AN98|B7ZKL9|F5H7L6|Q2M3V3 true false 0.8325,.,0.1675 false false 1 false true true IL12RB2:3595 true true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.85727,6.8686e-005,0.142661 false false true SNV 0x05010042000517053e000100 1 false 120 rs12142823 3595 67773351 true 1263WLS 79971 __UNKNOWN__ hg19 1 68564374 68564374 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:68564374delC ENST00000354777.2 - 12 1820 c.1573delG c.(1573-1575)gaafs p.E525fs WLS_ENST00000540432.1_Frame_Shift_Del_p.E527fs|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA NM_001002292.3 NP_001002292.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055) cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAACAATTCTTGATAAAGT 0.3341645885286783 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ323735 HGNC:30238 Approved gene with protein product protein-coding gene C1orf139, GPR177 "chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)" FLJ23091, MRP, wls, EVI, mig-14 "wntless homolog" 1p31.3 2016-10-05 2010-03-02 2013-10-03 BX538320 ENSG00000116729 12761501 NM_024911 CCDS642, CCDS30750, CCDS53331 OTTHUMG00000009153 611514 NM_001002292 Q5T9L3 ENSG00000116729 uc001def.3 B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79971 false 1264WLS 79971 __UNKNOWN__ hg19 1 68564393 68564393 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:68564393delA ENST00000354777.2 - 12 1801 c.1554delT c.(1552-1554)tttfs p.F518fs WLS_ENST00000540432.1_Frame_Shift_Del_p.F520fs|GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA NM_001002292.3 NP_001002292.3 Q5T9L3 WLS_HUMAN wntless Wnt ligand secretion mediator __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior axis specification (GO:0009948)|mesoderm formation (GO:0001707)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|Wnt signaling pathway (GO:0016055) cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTCCGAAACAAACAAAGCAC 0.33915211970074816 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ323735 HGNC:30238 Approved gene with protein product protein-coding gene C1orf139, GPR177 "chromosome 1 open reading frame 139", "G protein-coupled receptor 177", "wntless homolog (Drosophila)" FLJ23091, MRP, wls, EVI, mig-14 "wntless homolog" 1p31.3 2016-10-05 2010-03-02 2013-10-03 BX538320 ENSG00000116729 12761501 NM_024911 CCDS642, CCDS30750, CCDS53331 OTTHUMG00000009153 611514 NM_001002292 Q5T9L3 ENSG00000116729 uc001def.3 B2RNT2|Q5JRS7|Q7Z2Z9|Q8NC43 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79971 false 1265HHLA3 11147 __UNKNOWN__ hg19 1 70820700 70820700 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:70820700delC ENST00000359875.5 + 1 205 c.66delC c.(64-66)tgcfs p.C22fs HHLA3_ENST00000370940.5_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000361764.4_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000531950.1_Frame_Shift_Del_p.C22fs|HHLA3_ENST00000432224.1_Frame_Shift_Del_p.C22fs|ANKRD13C_ENST00000262346.6_5'Flank|ANKRD13C_ENST00000370944.4_5'Flank|HHLA3_ENST00000486110.1_Intron NM_001036645.1 NP_001031722.1 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGGAATGCAGAATGACGC 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:4906 Approved gene with protein product protein-coding gene 1p31.1 2014-11-19 AF126164 ENSG00000197568 10444326 NM_007071 CCDS649, CCDS30752, CCDS30753 OTTHUMG00000009346 604372 NM_001031693 Q9XRX5 ENSG00000197568 uc001dfb.4 D3DQ74|Q5VZP2|Q96FH5|Q9XRX4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11147 false 1266CTH 1491 __UNKNOWN__ hg19 1 70904382 70904382 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:70904382delC ENST00000370938.3 + 11 1207 c.1064delC c.(1063-1065)actfs p.T355fs CTH_ENST00000346806.2_Frame_Shift_Del_p.T311fs|CTH_ENST00000411986.2_Frame_Shift_Del_p.T323fs NM_001902.5 NP_001893.2 Q96IQ7 VSIG2_HUMAN cystathionine gamma-lyase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of plasma membrane (GO:0005887)|membrane (GO:0016020) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAATCATGACTCATGCATCA 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ S52784 HGNC:2501 Approved gene with protein product protein-coding gene "cystathionase (cystathionine gamma-lyase)" 1p31.1 2015-08-24 2014-06-24 BC015807 4.4.1.1 ENSG00000116761 1339280 NM_001902 CCDS650, CCDS651, CCDS53333 OTTHUMG00000009352 607657 NM_001190463 P32929 ENSG00000116761 uc001dfd.4 O95791|Q9NX42 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1491 false 1267PTGER3 5733 __UNKNOWN__ hg19 1 71418632 71418632 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:71418632delG ENST00000356595.4 - 4 1427 c.1215delC c.(1213-1215)agcfs p.S405fs PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000354608.5_Intron NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of fever generation (GO:0031622)|transcription, DNA-templated (GO:0006351) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|prostaglandin E receptor activity (GO:0004957) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 615 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Bimatoprost(DB00905)|Dinoprostone(DB00917)|Misoprostol(DB00929) ACACATTAATGCTGCTCACGA 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL158087 HGNC:9595 Approved gene with protein product protein-coding gene "prostaglandin E receptor 3 (subtype EP3)" EP3 1p31.1 2016-10-05 2015-11-16 X83863 ENSG00000050628 7759114, 9073510 NM_000957 207 Prostaglandin receptors CCDS652, CCDS655, CCDS656, CCDS657, CCDS658, CCDS44160 OTTHUMG00000009399 176806 NM_001126044 P43115 ENSG00000050628 uc001dfo.4 B0AZN4|B1AK19|B5BUP5|O00326|Q12943|Q12944|Q12945|Q16546|Q5CZ59|Q5CZ61|Q5CZ62|Q5CZ63|Q5CZ64 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5733 false 1268LRRIQ3 127255 __UNKNOWN__ hg19 1 74663709 74663709 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:74663709G>A ENST00000370911.3 - 1 LRRIQ3_ENST00000370909.2_5'UTR|LRRIQ3_ENST00000354431.4_5'UTR|TNNI3K_ENST00000370891.2_5'Flank|FPGT-TNNI3K_ENST00000370893.1_5'Flank|FPGT_ENST00000370894.5_5'Flank|FPGT-TNNI3K_ENST00000370895.1_5'Flank|FPGT_ENST00000370898.3_5'Flank|FPGT-TNNI3K_ENST00000370899.3_5'Flank|FPGT_ENST00000467578.2_5'Flank|FPGT_ENST00000482102.2_5'Flank|FPGT_ENST00000534056.1_5'Flank|FPGT-TNNI3K_ENST00000557284.2_5'Flank|FPGT_ENST00000609362.1_5'Flank|FPGT_ENST00000524915.1_5'Flank|FPGT-TNNI3K_ENST00000533006.1_5'Flank A6PVS8 LRIQ3_HUMAN leucine rich repeats and IQ motif containing 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(4)|pancreas(22) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCTTATGAGTTGGAGACAA 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:28318 Approved gene with protein product protein-coding gene LRRC44 "leucine rich repeat containing 44" MGC22773 1p31.1 2016-06-03 2008-06-12 2016-06-03 BX647210 ENSG00000162620 12477932 NM_145258 CCDS41350 OTTHUMG00000009508 NM_001105659 A6PVS8 ENSG00000162620 uc001dfy.5 A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127255 false 1269FPGT-TNNI3K 100526835 __UNKNOWN__ hg19 1 74737318 74737322 + Frame_Shift_Del DEL GGAGC GGAGC - 761357894 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:74737318_74737322delGGAGC ENST00000370899.3 + 7 709_713 c.673_677delGGAGC c.(673-678)ggagctfs p.G225fs TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.G124fs|FPGT-TNNI3K_ENST00000557284.2_Frame_Shift_Del_p.G238fs|FPGT-TNNI3K_ENST00000370895.1_Frame_Shift_Del_p.G225fs|TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.G225fs NM_001199327.1 NP_001186256.2 FPGT-TNNI3K readthrough __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTCACAGTGGAGCTGATATACAG 0.3950617283950617 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX470253 HGNC:42952 Approved readthrough other 1p31.1 2016-10-05 ENSG00000259030 403 Ankyrin repeat domain containing OTTHUMG00000166281 NM_001112808 ENSG00000259030 uc001dge.4 true false false false false false false TNNI3K:51086|FPGT-TNNI3K:100526835 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs761357894 100526835 74737318 false 1270FPGT-TNNI3K 100526835 __UNKNOWN__ hg19 1 74835231 74835232 + Frame_Shift_Del DEL AG AG - 748927643 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:74835231_74835232delAG ENST00000370899.3 + 18 1968_1969 c.1932_1933delAG c.(1930-1935)tcagggfs p.G646fs TNNI3K_ENST00000326637.3_Frame_Shift_Del_p.G545fs|FPGT-TNNI3K_ENST00000557284.2_Frame_Shift_Del_p.G659fs|FPGT-TNNI3K_ENST00000370895.1_Frame_Shift_Del_p.G646fs|TNNI3K_ENST00000370891.2_Frame_Shift_Del_p.G646fs|RP11-439H8.4_ENST00000415549.2_RNA NM_001199327.1 NP_001186256.2 FPGT-TNNI3K readthrough __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATACATATCAGGGGGTTCTCT 0.43034825870646765 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX470253 HGNC:42952 Approved readthrough other 1p31.1 2016-10-05 ENSG00000259030 403 Ankyrin repeat domain containing OTTHUMG00000166281 NM_001112808 ENSG00000259030 uc001dge.4 true false false false false false false TNNI3K:51086|FPGT-TNNI3K:100526835 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 144 rs748927643 100526835 74835231 false 1271C1orf173 __UNKNOWN__ hg19 1 75036873 75036873 + Frame_Shift_Del DEL T T - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:75036873delT ENST00000326665.5 - 14 4741 c.4521delA c.(4519-4521)cgafs p.E1508fs C1orf173_ENST00000433746.2_Intron NM_001002912.4 NP_001002912.4 Q5RHP9 ERIC3_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(8)|pancreas(22)|upper_aerodigestive_tract(124) 223 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTGCTTCTCTCGGGTTTCAG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749349 Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1272C1orf173 __UNKNOWN__ hg19 1 75038573 75038573 + Frame_Shift_Del DEL C C - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:75038573delC ENST00000326665.5 - 14 3041 c.2821delG c.(2821-2823)gatfs p.D941fs C1orf173_ENST00000433746.2_Intron NM_001002912.4 NP_001002912.4 Q5RHP9 ERIC3_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(8)|pancreas(22)|upper_aerodigestive_tract(124) 223 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCCGACATCACTCACAGCC 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749349 Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1273CRYZ 1429 __UNKNOWN__ hg19 1 75198740 75198740 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:75198740A>C ENST00000417775.1 - 1 CRYZ_ENST00000340866.5_5'Flank|TYW3_ENST00000370867.3_5'Flank|CRYZ_ENST00000370871.3_5'Flank|CRYZ_ENST00000370872.3_5'Flank|TYW3_ENST00000421739.2_5'Flank|TYW3_ENST00000457880.2_5'Flank|TYW3_ENST00000479111.1_5'Flank NM_001130042.1 NP_001123514.1 Q08257 QOR_HUMAN crystallin zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Dicoumarol(DB00266) TCCACCCAGGATGTGCGCCTC 0.5311720698254364 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L31526 HGNC:2419 Approved gene with protein product protein-coding gene "crystallin, zeta (quinone reductase)" 1p31.1 2015-11-12 2015-11-12 ENSG00000116791 CCDS665, CCDS44162, CCDS44163 OTTHUMG00000009620 123691 NM_001130042 Q08257 ENSG00000116791 uc001dgk.4 A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1429 false 1274CRYZ 1429 __UNKNOWN__ hg19 1 75198788 75198788 + 5'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:75198788C>A ENST00000417775.1 - 1 CRYZ_ENST00000340866.5_5'Flank|TYW3_ENST00000370867.3_5'Flank|CRYZ_ENST00000370871.3_5'Flank|CRYZ_ENST00000370872.3_5'Flank|TYW3_ENST00000421739.2_5'Flank|TYW3_ENST00000457880.2_5'Flank|TYW3_ENST00000479111.1_5'Flank NM_001130042.1 NP_001123514.1 Q08257 QOR_HUMAN crystallin zeta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein homotetramerization (GO:0051289)|visual perception (GO:0007601)|xenobiotic catabolic process (GO:0042178) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231) mRNA 3'-UTR binding (GO:0003730)|NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Dicoumarol(DB00266) CACCCCTAGGCGAAGGCACTA 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L31526 HGNC:2419 Approved gene with protein product protein-coding gene "crystallin, zeta (quinone reductase)" 1p31.1 2015-11-12 2015-11-12 ENSG00000116791 CCDS665, CCDS44162, CCDS44163 OTTHUMG00000009620 123691 NM_001130042 Q08257 ENSG00000116791 uc001dgk.4 A6NN60|D3DQ76|Q53FT0|Q59EU7|Q5HYE7|Q6NSK9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1429 false 1275ACADM 34 __UNKNOWN__ hg19 1 76200514 76200514 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:76200514delG ENST00000370834.5 + 7 603 c.525delG c.(523-525)aagfs p.K176fs ACADM_ENST00000420607.2_Frame_Shift_Del_p.K147fs|ACADM_ENST00000370841.4_Frame_Shift_Del_p.K143fs|ACADM_ENST00000541113.1_Frame_Shift_Del_p.K107fs|ACADM_ENST00000543667.1_Intron NM_001286043.1 NP_001272973.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase medium chain __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281) axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Flavin adenine dinucleotide(DB03147) ATCAACAAAAGAAGAAGTATT 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:89 Approved gene with protein product protein-coding gene "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain" MCAD, MCADH, ACAD1 "medium-chain acyl-CoA dehydrogenase" 1p31.1 2017-09-21 2017-09-21 M16827 1.3.8.7 ENSG00000117054 3035565 974 Acyl-CoA dehydrogenase family CCDS668, CCDS44165, CCDS65562, CCDS72807 OTTHUMG00000009784 607008 NM_000016 P11310 ENSG00000117054 uc001dgw.6 Q5T4U4|Q9NYF1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 34 false 1276ACADM 34 __UNKNOWN__ hg19 1 76226845 76226845 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:76226845delG ENST00000370834.5 + 12 1161 c.1083delG c.(1081-1083)atgfs p.M361fs ACADM_ENST00000420607.2_Frame_Shift_Del_p.M332fs|ACADM_ENST00000370841.4_Frame_Shift_Del_p.M328fs|ACADM_ENST00000541113.1_Frame_Shift_Del_p.M292fs|ACADM_ENST00000543667.1_Frame_Shift_Del_p.M139fs|ACADM_ENST00000481374.1_Intron NM_001286043.1 NP_001272973.1 P11310 ACADM_HUMAN acyl-CoA dehydrogenase medium chain __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281) axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Flavin adenine dinucleotide(DB03147) AAATGGCAATGAAAGTTGAAC 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:89 Approved gene with protein product protein-coding gene "acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain" MCAD, MCADH, ACAD1 "medium-chain acyl-CoA dehydrogenase" 1p31.1 2017-09-21 2017-09-21 M16827 1.3.8.7 ENSG00000117054 3035565 974 Acyl-CoA dehydrogenase family CCDS668, CCDS44165, CCDS65562, CCDS72807 OTTHUMG00000009784 607008 NM_000016 P11310 ENSG00000117054 uc001dgw.6 Q5T4U4|Q9NYF1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 34 false 1277RABGGTB 5876 __UNKNOWN__ hg19 1 76255707 76255707 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:76255707delA ENST00000319942.3 + 4 450 c.380delA c.(379-381)cagfs p.Q127fs RABGGTB_ENST00000370826.3_Frame_Shift_Del_p.Q127fs|RABGGTB_ENST00000535300.1_5'UTR|RABGGTB_ENST00000496055.1_Intron NM_004582.3 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase beta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601) Rab-protein geranylgeranyltransferase complex (GO:0005968) Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGGTCTACAGAAAGAAGAT 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y08201 HGNC:9796 Approved gene with protein product protein-coding gene 1p31.1 2016-10-05 2016-01-20 U49245 ENSG00000137955 8706741, 8954794 NM_004582 CCDS669 OTTHUMG00000009786 179080 NM_004582 P53611 ENSG00000137955 uc001dgy.3 Q92697 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5876 false 1278RABGGTB 5876 __UNKNOWN__ hg19 1 76260335 76260335 + Nonstop_Mutation SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:76260335G>C ENST00000319942.3 + 9 1067 c.996G>C c.(994-996)taG>taC p.*332Y RABGGTB_ENST00000535300.1_Nonstop_Mutation_p.*158Y|MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000496055.1_Intron NM_004582.3 NP_004573.2 P53611 PGTB2_HUMAN Rab geranylgeranyltransferase beta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601) Rab-protein geranylgeranyltransferase complex (GO:0005968) Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGTGAGCTAGATTCATTGAA 0.286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y08201 HGNC:9796 Approved gene with protein product protein-coding gene 1p31.1 2016-10-05 2016-01-20 U49245 ENSG00000137955 8706741, 8954794 NM_004582 CCDS669 OTTHUMG00000009786 179080 NM_004582 P53611 ENSG00000137955 uc001dgy.3 Q92697 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5876 false 1279MSH4 4438 __UNKNOWN__ hg19 1 76349332 76349332 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:76349332delG ENST00000263187.3 + 15 2036 c.1933delG c.(1933-1935)gcafs p.A645fs NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283) nucleus (GO:0005634)|synaptonemal complex (GO:0000795) ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983) biliary_tract(2)|breast(185)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(261)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 876 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGATACTTTAGCAATCAAACA 0.30673316708229426 __UNKNOWN__ __UNKNOWN__ "MutS homologs specialized for meiosis MSH4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ MSH5" 1p31.1 U89293 HGNC:7327 Approved gene with protein product protein-coding gene "mutS (E. coli) homolog 4", "mutS homolog 4 (E. coli)" 1p31.1 2016-10-05 2013-09-12 U89293 ENSG00000057468 9299235 NM_002440 1026 MutS homologs CCDS670 OTTHUMG00000009788 602105 NM_002440 O15457 ENSG00000057468 uc001dhd.3 Q5T4U6|Q8NEB3|Q9UNP8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4438 false 1280ASB17 127247 __UNKNOWN__ hg19 1 76397780 76397780 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:76397780delA ENST00000284142.6 - 1 338 c.197delT c.(196-198)ctafs p.L66fs NM_080868.2 NP_543144.1 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box containing 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTGTGAGTAGTGCGTCAAA 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471059 HGNC:19769 Approved gene with protein product protein-coding gene "ankyrin repeat and SOCS box-containing 17" 1p31.1 2016-10-05 2011-01-25 AF403035 ENSG00000154007 12076535 NM_080868 403 Ankyrin repeat domain containing CCDS671 OTTHUMG00000009787 NM_080868 Q8WXJ9 ENSG00000154007 uc001dhe.2 B1APB8|Q8N0X5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127247 false 1281USP33 23032 __UNKNOWN__ hg19 1 78207409 78207409 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:78207409C>T ENST00000370794.3 - 2 USP33_ENST00000370793.1_Missense_Mutation_p.G23R|USP33_ENST00000370792.3_Missense_Mutation_p.G23R|USP33_ENST00000357428.1_Missense_Mutation_p.G23R|USP33_ENST00000528150.1_Intron NM_201624.2 NP_963918.1 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511) cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891) cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(137)|ovary(58)|pancreas(30)|prostate(58) 617 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTGTTTCCCAAGACTTTCA 0.2743142144638404 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Melanoma(152;72 1870 11110 26780 42647) BC016663 HGNC:20059 Approved gene with protein product protein-coding gene "ubiquitin specific protease 33" KIAA1097, VDU1 1p31.1 2016-10-05 2005-08-08 AF383173 ENSG00000077254 12838346 NM_015017 366 Ubiquitin specific peptidases CCDS678, CCDS679, CCDS680 OTTHUMG00000009651 615146 NM_015017 Q8TEY7 ENSG00000077254 uc001dhu.5 Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23032 false 1282FAM73A __UNKNOWN__ hg19 1 78245342 78245342 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:78245342T>G ENST00000370791.3 + 1 34 c.2T>G c.(1-3)aTg>aGg p.M1R FAM73A_ENST00000443751.2_START_CODON_SNP_p.M1R|RNA5SP21_ENST00000410917.1_5'Flank NM_198549.3 NP_940951.1 Q8NAN2 FA73A_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCTTCTCCATGTCAGACTGC 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX641170 Q6MZG0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1283NEXN 91624 __UNKNOWN__ hg19 1 78392431 78392431 + Frame_Shift_Del DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:78392431delG ENST00000334785.7 + 8 901 c.718delG c.(718-720)gaafs p.E240fs NEXN_ENST00000330010.8_Frame_Shift_Del_p.E176fs|NEXN_ENST00000457030.1_Frame_Shift_Del_p.E226fs|NEXN_ENST00000480732.2_5'Flank NM_144573.3 NP_653174.3 nexilin F-actin binding protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAAAAAAAGAATCACTTTC 0.33665835411471323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ S67069 HGNC:29557 Approved gene with protein product protein-coding gene "nexilin (F actin binding protein)" nexilin, NELIN 1p31.1 2017-03-24 2016-03-30 AK057954 ENSG00000162614 12053183, 8227983 NM_144573 593 I-set domain containing CCDS41351, CCDS53335 OTTHUMG00000040533 613121 NM_001172309 Q0ZGT2 ENSG00000162614 uc001dic.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 91624 false 1284GIPC2 54810 __UNKNOWN__ hg19 1 78546380 78546380 + Frame_Shift_Del DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:78546380delA ENST00000370759.3 + 2 454 c.262delA c.(262-264)acafs p.T88fs GIPC2_ENST00000476882.1_Intron NM_017655.4 NP_060125.4 Q8TF65 GIPC2_HUMAN GIPC PDZ domain containing family member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTTAAACACACCTAAAAT 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC036075 HGNC:18177 Approved gene with protein product protein-coding gene "GIPC PDZ domain containing family, member 2" FLJ20075, SEMCAP-2 "semaphorin cytoplasmic domain associated protein 2" 1p31.1 2015-11-18 2015-11-18 AB073737 ENSG00000137960 11836570 NM_017655 1220 PDZ domain containing CCDS685 OTTHUMG00000041145 NM_001304725 Q8TF65 ENSG00000137960 uc001dik.4 Q8IYD3|Q9NXS7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54810 false 1285LPHN2 __UNKNOWN__ hg19 1 82302600 82302600 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:82302600T>C ENST00000370728.1 + 5 LPHN2_ENST00000370730.1_5'UTR|LPHN2_ENST00000370715.1_5'UTR|LPHN2_ENST00000319517.6_5'UTR|LPHN2_ENST00000370713.1_5'UTR|LPHN2_ENST00000370725.1_5'UTR|LPHN2_ENST00000370723.1_5'UTR|LPHN2_ENST00000370727.1_5'UTR|LPHN2_ENST00000370721.1_5'UTR|LPHN2_ENST00000359929.3_5'UTR|LPHN2_ENST00000370717.2_5'UTR|LPHN2_ENST00000394879.1_5'UTR|LPHN2_ENST00000271029.4_5'UTR|LPHN2_ENST00000335786.5_5'UTR|LPHN2_ENST00000469377.2_Intron O95490 LPHN2_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524) biliary_tract(2)|breast(186)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(157)|large_intestine(12)|lung(134)|ovary(58)|pancreas(30)|prostate(58)|skin(82) 763 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACTGATGGTTTTGATGAAGC 0.341645885286783 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ925675 A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1286SAMD13 148418 __UNKNOWN__ hg19 1 84768912 84768912 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:84768912C>T ENST00000370668.3 + 2 SAMD13_ENST00000370669.1_5'UTR|SAMD13_ENST00000394834.3_5'UTR|SAMD13_ENST00000370670.2_5'UTR|SAMD13_ENST00000370673.3_Missense_Mutation_p.L13F|SAMD13_ENST00000370671.3_Missense_Mutation_p.L19F NM_001134664.1 NP_001128136.1 Q5VXD3 SAM13_HUMAN sterile alpha motif domain containing 13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCTGCAGCCTTCCCATGCT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DB459148 HGNC:24582 Approved gene with protein product protein-coding gene 1p31.1 2015-09-02 ENSG00000203943 NM_001010971 760 Sterile alpha motif domain containing CCDS30760, CCDS44166 OTTHUMG00000009859 NM_001010971 Q5VXD3 ENSG00000203943 uc001djr.3 B3KPW8|D3DT11|Q53AI4|Q5VXD2|Q5VXD4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 148418 false 1287CTBS 1486 __UNKNOWN__ hg19 1 85020683 85020683 + Nonstop_Mutation SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:85020683C>G ENST00000370630.5 - 7 1206 c.1157G>C c.(1156-1158)tGa>tCa p.*386S CTBS_ENST00000477677.1_Intron NM_004388.2 NP_004379.1 Q01459 DIAC_HUMAN chitobiase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chitin catabolic process (GO:0006032)|oligosaccharide catabolic process (GO:0009313) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) chitinase activity (GO:0004568) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAAGATGTTCATCTCTGTAA 0.3541147132169576 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M95767 HGNC:2496 Approved gene with protein product protein-coding gene CTB "chitobiase, di-N-acetyl-" 1p22.3 2016-10-05 2016-02-29 M95767 3.2.1.- ENSG00000117151 1549114, 7606925 NM_004388 816 Chitinases CCDS698 OTTHUMG00000009922 600873 NM_004388 Q01459 ENSG00000117151 uc001dka.3 Q5VX50 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1486 false 1288ODF2L 57489 __UNKNOWN__ hg19 1 86841963 86841964 + Frame_Shift_Ins INS - - T 867604743 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:86841963_86841964insT ENST00000370566.3 - 8 1130 c.762_763insA c.(763-765)catfs p.H255fs ODF2L_ENST00000359242.3_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000294678.2_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000317336.7_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000370567.1_Frame_Shift_Ins_p.H255fs|ODF2L_ENST00000394731.1_Frame_Shift_Ins_p.H124fs|ODF2L_ENST00000524695.1_5'Flank NM_001184766.1 NP_001171695.1 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ centrosome (GO:0005813) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGTAAAATGGTCAAGCCTT 0.2775 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR591511 HGNC:29225 Approved gene with protein product protein-coding gene "outer dense fiber of sperm tails 2-like" KIAA1229 1p22.3 2016-04-25 2016-02-23 ENSG00000122417 10574462 CCDS30763, CCDS41354, CCDS53339 OTTHUMG00000010080 NM_001007022 Q9ULJ1 ENSG00000122417 uc001dlm.3 A8MU56|B4E037|Q05C40|Q5BJG5|Q5TBX3|Q5TBX4|Q86X31 true false false false false false false ODF2L:57489 false true false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000402000200 1 false 147 rs867604743 57489 86841963 false 1289GBP1 2633 __UNKNOWN__ hg19 1 89530860 89530860 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:89530860A>G ENST00000370473.4 - 1 NM_002053.2 NP_002044.2 P32455 GBP1_HUMAN guanylate binding protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333) cytosol (GO:0005829)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|membrane (GO:0016020) GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTCTCCTTAGTTCACGAGC 0.40648379052369077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M55542 HGNC:4182 Approved gene with protein product protein-coding gene "guanylate binding protein 1, interferon-inducible, 67kDa", "guanylate binding protein 1, interferon-inducible" 1p22.2 2016-01-21 2016-01-21 BC002666 ENSG00000117228 7518790 NM_002053 CCDS718 OTTHUMG00000010614 600411 NM_002053 P32455 ENSG00000117228 uc001dmx.3 D3DT26|Q5T8M1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2633 false 1290GLMN 11146 __UNKNOWN__ hg19 1 92729242 92729243 + Frame_Shift_Ins INS - - G 763357116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:92729242_92729243insG ENST00000370360.3 - 15 1429 c.1346_1347insC c.(1345-1347)cttfs p.L450fs GLMN_ENST00000534881.1_Frame_Shift_Ins_p.L436fs NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570) Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622) hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAATCAAGAAGGGAAATCA 0.325 __UNKNOWN__ __UNKNOWN__ Multiple Glomus Tumors (of the Skin), Familial __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma Familial Cancer Database U73704 HGNC:14373 Approved gene with protein product protein-coding gene VMGLOM "venous malformation with glomus cells" FAP48, GLML, GVM, FKBPAP 1p22.1 2014-11-19 2004-07-01 U73704 ENSG00000174842 8955134 NM_007070 CCDS738 OTTHUMG00000010283 601749 NM_001319683 Q92990 ENSG00000174842 uc001dor.4 Q5VVC3|Q9BVE8 true false false false false false false GLMN:11146 false false false false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000001205000002000200 1 false 144 rs763357116 11146 92729242 false 1291CCDC18 343099 __UNKNOWN__ hg19 1 93645613 93645613 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:93645613G>A ENST00000343253.7 + 1 TMED5_ENST00000370282.3_Nonsense_Mutation_p.Q63*|TMED5_ENST00000479918.1_Nonsense_Mutation_p.Q63*|TMED5_ENST00000370280.1_Nonsense_Mutation_p.Q63*|CCDC18_ENST00000334652.5_5'Flank|CCDC18_ENST00000338949.4_5'Flank|CCDC18_ENST00000401026.3_5'Flank|CCDC18_ENST00000557479.1_5'Flank Q5T9S5 CCD18_HUMAN coiled-coil domain containing 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(33)|central_nervous_system(44)|large_intestine(35)|lung(1)|pancreas(22) 137 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCACTTACTTGGTACTCGATC 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL139421 HGNC:30370 Approved gene with protein product protein-coding gene NY-SAR-41 1p22.1 2015-08-26 ENSG00000122483 12601173 NM_206886 CCDS76180 OTTHUMG00000010598 NM_001306076 Q5T9S5 ENSG00000122483 uc057iix.1 Q6ZU17 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 343099 false 1292DNTTIP2 30836 __UNKNOWN__ hg19 1 94344716 94344716 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:94344716C>T ENST00000436063.2 - 1 DNTTIP2_ENST00000460191.1_Intron NM_014597.4 NP_055412.2 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase terminal interacting protein 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleolus (GO:0005730)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) breast(1) 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCCGGCTCCCTCGCGACCA 0.6059850374064838 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U15552 HGNC:24013 Approved gene with protein product protein-coding gene "deoxynucleotidyltransferase, terminal, interacting protein 2" HSU15552, ERBP, TdIF2 "acidic 82 kDa protein mRNA" 1p22.1 2016-04-05 2016-04-05 AY394925 ENSG00000067334 15047147 NM_014597 CCDS44174 OTTHUMG00000010268 611199 NM_014597 Q5QJE6 ENSG00000067334 uc001dqf.4 Q12987|Q53H59|Q5TFJ4|Q6TLI0|Q76MJ8|Q86WX9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 30836 false 1293ARHGAP29 9411 __UNKNOWN__ hg19 1 94697167 94697167 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:94697167T>C ENST00000260526.6 - 2 184 c.1A>G c.(1-3)Atg>Gtg p.M1V ARHGAP29_ENST00000370217.3_START_CODON_SNP_p.M1V NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264) cytosol (GO:0005829) metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100) biliary_tract(2)|breast(49)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(2)|oesophagus(3)|pancreas(22) 251 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGCAATCATCCTTTCATGT 0.3541147132169576 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U90920 HGNC:30207 Approved gene with protein product protein-coding gene PARG1 1p22.1 2014-11-18 ENSG00000137962 9305890 NM_004815 721 Rho GTPase activating proteins CCDS748 OTTHUMG00000010643 610496 NM_004815 Q52LW3 ENSG00000137962 uc001dqj.5 O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9411 false 1294FRRS1 391059 __UNKNOWN__ hg19 1 100174455 100174455 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:100174455T>C ENST00000287474.5 - 17 2482 c.1880A>G c.(1879-1881)tAg>tGg p.*627W FRRS1_ENST00000414213.1_3'UTR NM_001013660.2 NP_001013682.2 Q6ZNA5 FRRS1_HUMAN ferric chelate reductase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) ferric-chelate reductase activity (GO:0000293)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAATTCCTCTACAGACATGA 0.36159600997506236 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471097 HGNC:27622 Approved gene with protein product protein-coding gene SDFR2 "stromal cell derived factor receptor 2 homolog (mouse)", "ferric-chelate reductase 1" SDR2 1p21.2 2016-10-05 2006-02-22 2016-01-21 AK131302 ENSG00000156869 NM_001013660 CCDS30780 OTTHUMG00000010768 611578 NM_001013660 Q6ZNA5 ENSG00000156869 uc001dsh.1 A6NLN7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 391059 false 1295EXTL2 2135 __UNKNOWN__ hg19 1 101354386 101354386 + DE_NOVO_START_IN_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:101354386T>C ENST00000370113.3 - 2 EXTL2_ENST00000370114.3_Splice_Site|EXTL2_ENST00000535414.1_Splice_Site|EXTL2_ENST00000480774.1_Splice_Site NM_001439.3 NP_001430.1 Q9UBQ6 EXTL2_HUMAN exostosin like glycosyltransferase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227) alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTGTCACTATTAAGATAA 0.30423940149625933 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U76189 HGNC:3516 Approved gene with protein product protein-coding gene "exostoses (multiple)-like 2" "alpha-1,4-N-acteylhexosaminyltransferase" 1p21.2 2016-10-05 2016-06-01 U76189 2.4.1.223 ENSG00000162694 9450183, 15831490 NM_001439 431 Exostosin glycosyltransferase family CCDS775, CCDS72831 OTTHUMG00000011814 602411 NM_001033025 Q9UBQ6 ENSG00000162694 uc001dtl.3 B2R795|D3DT60 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2135 false 1296EXTL2 2135 __UNKNOWN__ hg19 1 101361178 101361178 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:101361178C>T ENST00000370114.3 - 1 SLC30A7_ENST00000357650.4_5'Flank|SLC30A7_ENST00000370112.4_5'Flank|EXTL2_ENST00000370113.3_5'Flank|EXTL2_ENST00000535414.1_5'Flank|EXTL2_ENST00000480774.1_5'Flank NM_001261440.1 NP_001248371.1 Q9UBQ6 EXTL2_HUMAN exostosin like glycosyltransferase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276) endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227) alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAATGGATTCCTAAGATTTG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U76189 HGNC:3516 Approved gene with protein product protein-coding gene "exostoses (multiple)-like 2" "alpha-1,4-N-acteylhexosaminyltransferase" 1p21.2 2016-10-05 2016-06-01 U76189 2.4.1.223 ENSG00000162694 9450183, 15831490 NM_001439 431 Exostosin glycosyltransferase family CCDS775, CCDS72831 OTTHUMG00000011814 602411 NM_001033025 Q9UBQ6 ENSG00000162694 uc001dtl.3 B2R795|D3DT60 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2135 false 1297STXBP3 6814 __UNKNOWN__ hg19 1 109289353 109289353 + 5'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:109289353C>G ENST00000370008.3 + 1 NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820) syntaxin binding (GO:0019905) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGCAGTGTCGGGAAGATGG 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D63506 HGNC:11446 Approved gene with protein product protein-coding gene UNC-18C 1p13.3 2014-11-19 D63506 ENSG00000116266 10194441 NM_007269 CCDS790 OTTHUMG00000011122 608339 NM_007269 O00186 ENSG00000116266 uc001dvy.4 A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6814 false 1298TMEM167B 56900 __UNKNOWN__ hg19 1 109633256 109633256 + 5'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:109633256C>G ENST00000338272.8 + 1 RP5-1065J22.8_ENST00000608574.1_RNA|TMEM167B_ENST00000473828.1_5'Flank NM_020141.3 NP_064526.1 Q9NRX6 KISHB_HUMAN transmembrane protein 167B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021) biliary_tract(2)|central_nervous_system(22)|pancreas(22) 46 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGCCAAGTACGAAGCCTTCG 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471122 HGNC:30187 Approved gene with protein product protein-coding gene C1orf119 "chromosome 1 open reading frame 119" AD-020, FLJ90710 1p13.3 2014-11-19 2008-06-06 2008-06-06 ENSG00000215717 12477932 NM_020141 CCDS30789 OTTHUMG00000042364 NM_001322248 Q9NRX6 ENSG00000215717 uc001dwn.4 B2RUU9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56900 false 1299GSTM4 2948 __UNKNOWN__ hg19 1 110198727 110198727 + 5'UTR SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110198727C>G ENST00000369836.4 + 1 GSTM4_ENST00000336075.5_5'UTR|GSTM4_ENST00000326729.5_5'Flank|GSTM4_ENST00000369833.1_5'Flank|GSTM4_ENST00000495742.1_5'Flank NM_000850.4 NP_000841.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803) breast(11)|central_nervous_system(22)|large_intestine(11) 44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143) CCTCCTAGTGCTTCCGGACCT 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X68677 HGNC:4636 Approved gene with protein product protein-coding gene "glutathione S-transferase M4" 1p13.3 2015-09-11 2008-11-26 M96234 2.5.1.18 ENSG00000168765 8276420 NM_000850 567 Soluble glutathione S-transferases CCDS806, CCDS807 OTTHUMG00000011642 138333 NM_000850 Q03013 ENSG00000168765 uc001dyf.4 A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2948 false 1300GSTM4 2948 __UNKNOWN__ hg19 1 110198788 110198788 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110198788T>C ENST00000369836.4 + 1 GSTM4_ENST00000326729.5_5'UTR|GSTM4_ENST00000336075.5_5'UTR|GSTM4_ENST00000369833.1_5'Flank|GSTM4_ENST00000495742.1_5'Flank NM_000850.4 NP_000841.1 Q03013 GSTM4_HUMAN glutathione S-transferase mu 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803) breast(11)|central_nervous_system(22)|large_intestine(11) 44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143) TTCCAGCCAGTGAGGATCCAG 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X68677 HGNC:4636 Approved gene with protein product protein-coding gene "glutathione S-transferase M4" 1p13.3 2015-09-11 2008-11-26 M96234 2.5.1.18 ENSG00000168765 8276420 NM_000850 567 Soluble glutathione S-transferases CCDS806, CCDS807 OTTHUMG00000011642 138333 NM_000850 Q03013 ENSG00000168765 uc001dyf.4 A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2948 false 1301GSTM2 2946 __UNKNOWN__ hg19 1 110210671 110210671 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110210671G>T ENST00000369831.2 + 1 GSTM2_ENST00000442650.1_5'UTR|GSTM2_ENST00000369827.3_5'UTR|GSTM2_ENST00000241337.4_5'Flank|GSTM2_ENST00000369829.2_5'Flank|GSTM2_ENST00000414179.2_5'Flank|GSTM2_ENST00000460717.3_5'Flank|GSTM2_ENST00000464206.1_5'Flank P28161 GSTM2_HUMAN glutathione S-transferase mu 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143) ACCCTCTCTGGGCCTCTCACA 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X56838 HGNC:4634 Approved gene with protein product protein-coding gene "glutathione S-transferase M2 (muscle)", "glutathione S-transferase mu 2 (muscle)" GST4 1p13.3 2016-06-27 2016-06-27 M63509 2.5.1.18 ENSG00000213366 2034681, 2345169 NM_000848 567 Soluble glutathione S-transferases CCDS808, CCDS44192 OTTHUMG00000011638 138380 NM_000848 P28161 ENSG00000213366 uc001dyj.4 B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2946 false 1302GSTM2 2946 __UNKNOWN__ hg19 1 110210740 110210740 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110210740G>A ENST00000241337.4 + 1 53 c.3G>A c.(1-3)atG>atA p.M1I GSTM2_ENST00000369831.2_START_CODON_SNP_p.M1I|GSTM2_ENST00000442650.1_START_CODON_SNP_p.M1I|GSTM2_ENST00000460717.3_START_CODON_SNP_p.M1I|GSTM2_ENST00000369829.2_START_CODON_SNP_p.M1I|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000369827.3_5'UTR|GSTM2_ENST00000464206.1_Intron NM_000848.3 NP_000839.1 P28161 GSTM2_HUMAN glutathione S-transferase mu 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143) CCAGCACCATGCCCATGACAC 0.6932668329177057 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X56838 HGNC:4634 Approved gene with protein product protein-coding gene "glutathione S-transferase M2 (muscle)", "glutathione S-transferase mu 2 (muscle)" GST4 1p13.3 2016-06-27 2016-06-27 M63509 2.5.1.18 ENSG00000213366 2034681, 2345169 NM_000848 567 Soluble glutathione S-transferases CCDS808, CCDS44192 OTTHUMG00000011638 138380 NM_000848 P28161 ENSG00000213366 uc001dyj.4 B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2946 false 1303GSTM5 2949 __UNKNOWN__ hg19 1 110255320 110255320 + 5'UTR SNP T T C 868017653 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110255320T>C ENST00000369813.1 + 2 GSTM5_ENST00000256593.3_Intron|GSTM5_ENST00000369812.5_Intron|GSTM5_ENST00000492718.1_5'Flank P46439 GSTM5_HUMAN glutathione S-transferase mu 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) glutathione transferase activity (GO:0004364) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(11)|oesophagus(2)|pancreas(22)|soft_tissue(25) 134 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143) GGGACGGTAATGGCACCCTCG 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471122 HGNC:4637 Approved gene with protein product protein-coding gene "glutathione S-transferase M5" 1p13.3 2014-11-19 2008-11-26 L02321 2.5.1.18 ENSG00000134201 8473333 NM_000851 567 Soluble glutathione S-transferases CCDS811 OTTHUMG00000011644 138385 NM_000851 P46439 ENSG00000134201 uc001dyn.4 A8K0V8|Q6PD78 true false false false false false false GSTM5:2949 false true true false false false false false false false false false false false false false false false true false false false 0 false 0 false false false false SNV 0x0500000a0005000402000100 1 false 147 rs868017653 2949 110255320 false 1304GSTM3 2947 __UNKNOWN__ hg19 1 110282909 110282909 + START_CODON_SNP SNP T T C 202171165 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110282909T>C ENST00000540225.1 - 2 312 c.1A>G c.(1-3)Atg>Gtg p.M1V GSTM3_ENST00000361066.2_START_CODON_SNP_p.M1V|GSTM3_ENST00000256594.3_START_CODON_SNP_p.M1V|RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000488824.1_Intron P21266 GSTM3_HUMAN glutathione S-transferase mu 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686) enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143)|Vitamin E(DB00163) TCGCACGACATGGTGACGGGC 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ J05459 HGNC:4635 Approved gene with protein product protein-coding gene "glutathione S-transferase M3 (brain)", "glutathione S-transferase mu 3 (brain)" GST5 1p13.3 2016-06-27 2016-06-27 BC000088 2.5.1.18 ENSG00000134202 2345169 NM_000849 567 Soluble glutathione S-transferases CCDS812 OTTHUMG00000011640 138390 NM_000849 P21266 ENSG00000134202 uc057jbx.1 O60550|Q96HA3 true false 0.9988,0.001198 false false 1 false false false GSTM3:2947 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040436000100 1 false 137 rs202171165 2947 110282909 true 1305EPS8L3 79574 __UNKNOWN__ hg19 1 110300600 110300601 + Frame_Shift_Ins INS - - CTGCTGGTTTT 562835845 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110300600_110300601insCTGCTGGTTTT ENST00000369805.3 - 9 1031 c.800_801insAAAACCAGCAG c.(799-801)aagfs p.K269fs EPS8L3_ENST00000361965.4_Frame_Shift_Ins_p.K268fs|EPS8L3_ENST00000361852.4_Frame_Shift_Ins_p.K268fs|RP4-735C1.4_ENST00000431955.1_RNA NM_139053.2 NP_620641.1 Q8TE67 ES8L3_HUMAN EPS8 like 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(12)|lung(1)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATTTCTTCTTCCTGCTGG 0.58 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC012926 HGNC:21297 Approved gene with protein product protein-coding gene "EPS8-like 3" FLJ21522, MGC16817 1p13.3 2016-10-05 2016-01-20 AK025175 ENSG00000198758 12620401 NM_024526 CCDS813, CCDS814, CCDS815 OTTHUMG00000011651 614989 NM_001319952 Q8TE67 ENSG00000198758 uc001dyq.3 A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719 true false false false false false false EPS8L3:79574|LOC101928585:101928585 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false false DIV 0x050000081205040402000200 1 false 142 rs562835845 79574 110300600 true 1306LAMTOR5 10542 __UNKNOWN__ hg19 1 110950259 110950259 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110950259T>C ENST00000602318.1 - 1 LAMTOR5_ENST00000256644.4_Missense_Mutation_p.E77G|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000585330.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_5'Flank|LAMTOR5-AS1_ENST00000590826.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_5'Flank|LAMTOR5-AS1_ENST00000608067.1_5'Flank|LAMTOR5-AS1_ENST00000608253.1_5'Flank|LAMTOR5-AS1_ENST00000608486.1_5'Flank|LAMTOR5-AS1_ENST00000608499.1_5'Flank|LAMTOR5-AS1_ENST00000608602.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_5'Flank|LAMTOR5-AS1_ENST00000609653.1_5'Flank|LAMTOR5-AS1_ENST00000609709.1_5'Flank|LAMTOR5-AS1_ENST00000610148.1_5'Flank O43504 LTOR5_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079) cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACCGACCACTCCGGCTCAGA 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR542130 HGNC:17955 Approved gene with protein product protein-coding gene HBXIP "hepatitis B virus x interacting protein" XIP, MGC71071 "HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)" 1p13.3 2016-10-05 2012-09-24 2012-09-24 AF029890 ENSG00000134248 9499022, 22980980 NM_006402 1040 Ragulator complex CCDS824 OTTHUMG00000011568 608521 NM_006402 O43504 ENSG00000134248 uc057jdz.1 Q6IBD8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10542 false 1307LAMTOR5 10542 __UNKNOWN__ hg19 1 110950277 110950277 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110950277G>A ENST00000602318.1 - 1 LAMTOR5_ENST00000256644.4_Missense_Mutation_p.P71L|LAMTOR5_ENST00000474861.2_5'UTR|LAMTOR5_ENST00000483260.1_5'UTR|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000585330.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_5'Flank|LAMTOR5-AS1_ENST00000590826.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_5'Flank|LAMTOR5-AS1_ENST00000608067.1_5'Flank|LAMTOR5-AS1_ENST00000608253.1_5'Flank|LAMTOR5-AS1_ENST00000608486.1_5'Flank|LAMTOR5-AS1_ENST00000608499.1_5'Flank|LAMTOR5-AS1_ENST00000608602.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_5'Flank|LAMTOR5-AS1_ENST00000609653.1_5'Flank|LAMTOR5-AS1_ENST00000609709.1_5'Flank|LAMTOR5-AS1_ENST00000610148.1_5'Flank O43504 LTOR5_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079) cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAACCCAGCGGCACGGCACG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR542130 HGNC:17955 Approved gene with protein product protein-coding gene HBXIP "hepatitis B virus x interacting protein" XIP, MGC71071 "HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)" 1p13.3 2016-10-05 2012-09-24 2012-09-24 AF029890 ENSG00000134248 9499022, 22980980 NM_006402 1040 Ragulator complex CCDS824 OTTHUMG00000011568 608521 NM_006402 O43504 ENSG00000134248 uc057jdz.1 Q6IBD8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10542 false 1308LAMTOR5 10542 __UNKNOWN__ hg19 1 110950295 110950295 + 5'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110950295C>A ENST00000602318.1 - 1 LAMTOR5_ENST00000256644.4_Missense_Mutation_p.G65V|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000585330.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_5'Flank|LAMTOR5-AS1_ENST00000590826.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_5'Flank|LAMTOR5-AS1_ENST00000608067.1_5'Flank|LAMTOR5-AS1_ENST00000608253.1_5'Flank|LAMTOR5-AS1_ENST00000608486.1_5'Flank|LAMTOR5-AS1_ENST00000608499.1_5'Flank|LAMTOR5-AS1_ENST00000608602.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_5'Flank|LAMTOR5-AS1_ENST00000609653.1_5'Flank|LAMTOR5-AS1_ENST00000609709.1_5'Flank|LAMTOR5-AS1_ENST00000610148.1_5'Flank O43504 LTOR5_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079) cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTCCTTCTCCACCACAGGC 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR542130 HGNC:17955 Approved gene with protein product protein-coding gene HBXIP "hepatitis B virus x interacting protein" XIP, MGC71071 "HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)" 1p13.3 2016-10-05 2012-09-24 2012-09-24 AF029890 ENSG00000134248 9499022, 22980980 NM_006402 1040 Ragulator complex CCDS824 OTTHUMG00000011568 608521 NM_006402 O43504 ENSG00000134248 uc057jdz.1 Q6IBD8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10542 false 1309LAMTOR5 10542 __UNKNOWN__ hg19 1 110950313 110950313 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:110950313A>G ENST00000602318.1 - 1 LAMTOR5_ENST00000256644.4_Missense_Mutation_p.V59A|LAMTOR5_ENST00000474861.2_5'Flank|LAMTOR5_ENST00000483260.1_5'Flank|LAMTOR5_ENST00000602858.1_5'Flank|LAMTOR5-AS1_ENST00000590413.1_RNA|LAMTOR5-AS1_ENST00000457535.1_RNA|LAMTOR5-AS1_ENST00000585330.1_5'Flank|LAMTOR5-AS1_ENST00000587691.1_5'Flank|LAMTOR5-AS1_ENST00000590826.1_5'Flank|LAMTOR5-AS1_ENST00000598454.1_5'Flank|LAMTOR5-AS1_ENST00000608067.1_5'Flank|LAMTOR5-AS1_ENST00000608253.1_5'Flank|LAMTOR5-AS1_ENST00000608486.1_5'Flank|LAMTOR5-AS1_ENST00000608499.1_5'Flank|LAMTOR5-AS1_ENST00000608602.1_5'Flank|LAMTOR5-AS1_ENST00000609244.1_5'Flank|LAMTOR5-AS1_ENST00000609512.1_5'Flank|LAMTOR5-AS1_ENST00000609653.1_5'Flank|LAMTOR5-AS1_ENST00000609709.1_5'Flank|LAMTOR5-AS1_ENST00000610148.1_5'Flank O43504 LTOR5_HUMAN late endosomal/lysosomal adaptor, MAPK and MTOR activator 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to amino acid stimulus (GO:0071230)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of GTPase activity (GO:0043547)|positive regulation of TOR signaling (GO:0032008)|protein localization to lysosome (GO:0061462)|regulation of cell size (GO:0008361)|response to virus (GO:0009615)|viral genome replication (GO:0019079) cytosol (GO:0005829)|lysosome (GO:0005764)|Ragulator complex (GO:0071986) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCTCAGTCACTTGACGCGA 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR542130 HGNC:17955 Approved gene with protein product protein-coding gene HBXIP "hepatitis B virus x interacting protein" XIP, MGC71071 "HBx-interacting protein", "hepatitis B virus x-interacting protein (9.6kD)" 1p13.3 2016-10-05 2012-09-24 2012-09-24 AF029890 ENSG00000134248 9499022, 22980980 NM_006402 1040 Ragulator complex CCDS824 OTTHUMG00000011568 608521 NM_006402 O43504 ENSG00000134248 uc057jdz.1 Q6IBD8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10542 false 1310KCNA2 3737 __UNKNOWN__ hg19 1 111148080 111148080 + 5'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:111148080C>A ENST00000369770.3 - 2 KCNA2_ENST00000485317.1_5'UTR|KCNA2_ENST00000316361.4_5'UTR|KCNA2_ENST00000440270.1_5'UTR|KCNA2_ENST00000525120.1_Intron NM_001204269.1 NP_001191198.1 P16389 KCNA2_HUMAN potassium voltage-gated channel subfamily A member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ optic nerve structural organization (GO:0021633)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268) juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076) delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Dalfampridine(DB06637) TGAGATGCACCAACAGGCAGC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(18;568 735 10587 23710 36357) L02752 HGNC:6220 Approved gene with protein product protein-coding gene "potassium voltage-gated channel, shaker-related subfamily, member 2" Kv1.2, HK4 1p13.3 2016-10-05 2016-02-04 L02752 ENSG00000177301 16382104 NM_004974 274 Potassium voltage-gated channels CCDS827, CCDS55625 OTTHUMG00000011567 176262 NM_001204269 P16389 ENSG00000177301 uc057jgb.2 Q86XG6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3737 false 1311CD53 963 __UNKNOWN__ hg19 1 111415841 111415841 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:111415841G>A ENST00000271324.5 + 1 CD53_ENST00000429072.2_5'UTR NM_001040033.1 NP_001035122.1 P19397 CD53_HUMAN CD53 molecule __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165) cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATTCTGCCGAAAGGACTGA 0.4463840399002494 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M60871 HGNC:1686 Approved gene with protein product protein-coding gene MOX44 "CD53 antigen" TSPAN25 1p13.3 2016-10-05 2006-03-28 BC040693 ENSG00000143119 8319976 NM_000560 471|768 CD molecules|Tetraspanins CCDS829 OTTHUMG00000048020 151525 NM_000560 P19397 ENSG00000143119 uc001dzx.4 B2R905|Q5U0D6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 963 false 1312ADORA3 140 __UNKNOWN__ hg19 1 112042574 112042574 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:112042574A>G ENST00000241356.4 - 2 1361 c.955T>C c.(955-957)Tag>Cag p.*319Q ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron NM_000677.3 NP_000668.1 P33765 AA3R_HUMAN adenosine A3 receptor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886) G-protein coupled adenosine receptor activity (GO:0001609) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824) ATGGATAACTACTCAGAATTC 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X76981 HGNC:268 Approved gene with protein product protein-coding gene AD026 1p13.2 2017-03-24 BC029831 ENSG00000282608 7607699 NM_000677, NM_020683 211|590 Adenosine receptors|V-set domain containing CCDS838, CCDS839, CCDS41369, CCDS81358 OTTHUMG00000011957 600445 NM_000677 P0DMS8 ENSG00000282608 uc001ebh.5 A2A3P4|Q6UWU0|Q9BYZ1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 140 false 1313WNT2B 7482 __UNKNOWN__ hg19 1 113010195 113010195 + DE_NOVO_START_OUT_FRAME SNP T T G 189656664 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:113010195T>G ENST00000256640.5 + 1 WNT2B_ENST00000369686.5_Missense_Mutation_p.I12M Q93097 WNT2B_HUMAN Wnt family member 2B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cellular response to starvation (GO:0009267)|chondrocyte differentiation (GO:0002062)|cornea development in camera-type eye (GO:0061303)|forebrain regionalization (GO:0021871)|hematopoietic stem cell proliferation (GO:0071425)|iris morphogenesis (GO:0061072)|lens development in camera-type eye (GO:0002088)|lung induction (GO:0060492)|male gonad development (GO:0008584)|mesenchymal-epithelial cell signaling (GO:0060638)|neuron differentiation (GO:0030182)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055) extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578) frizzled binding (GO:0005109) biliary_tract(2)|breast(186)|central_nervous_system(44)|large_intestine(11)|lung(134)|ovary(58)|pancreas(30)|prostate(58) 523 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATAAGCATTTTTGGAATTC 0.36658354114713215 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL354760 HGNC:12781 Approved gene with protein product protein-coding gene WNT13 "wingless-type MMTV integration site family, member 2B" XWNT2 "XWNT2, Xenopus, homolog of", "wingless-type MMTV integration site family, member 13" 1p13.2 2016-10-05 2016-03-18 AB045116 ENSG00000134245 8761309, 10944466 NM_004185 360 Wnt family CCDS847, CCDS846, CCDS76188 OTTHUMG00000011157 601968 NM_001291880 Q93097 ENSG00000134245 uc001ecb.4 O14903|Q5TEH9|Q5TEI2|Q9HDC1|Q9HDC2 true false 0.9998,0.0001997 false false 0 false false false WNT2B:7482 false true false true true false false false false false false true false false false false false false false true false false 0 false 0 false 0.999966,3.4343e-005 false false true SNV 0x050000400a05040436000100 1 false 135 rs189656664 7482 113010195 true 1314RHOC 389 __UNKNOWN__ hg19 1 113248791 113248791 + 5'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:113248791C>A ENST00000285735.2 - 2 RHOC_ENST00000339083.7_Intron|RHOC_ENST00000369642.3_Intron|RHOC_ENST00000369633.2_Intron|RHOC_ENST00000369638.2_Intron|RHOC_ENST00000369632.2_Intron|RHOC_ENST00000369637.1_Intron|RP11-426L16.10_ENST00000606505.1_Intron|RHOC_ENST00000369636.2_Intron|RP11-426L16.10_ENST00000471038.2_Intron P08134 RHOC_HUMAN ras homolog family member C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apical junction assembly (GO:0043297)|axon guidance (GO:0007411)|cytokinesis (GO:0000910)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264) cleavage furrow (GO:0032154)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886) GTP binding (GO:0005525)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(323)|ovary(58)|pancreas(30)|prostate(58) 803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACAGTGTGGCTACATCAGAC 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X06821 HGNC:669 Approved gene with protein product protein-coding gene ARH9, ARHC "ras homolog gene family, member C" RhoC 1p13.2 2016-10-05 2004-03-24 2012-02-27 BC052808 ENSG00000155366 3283705 NM_175744 390 Rho family GTPases CCDS854 OTTHUMG00000011905 165380 NM_001042678 P08134 ENSG00000155366 uc001ecr.2 B3KSW1|Q6ICN3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 389 false 1315SLC16A1 6566 __UNKNOWN__ hg19 1 113498070 113498070 + 5'UTR SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:113498070G>C ENST00000538576.1 - 1 SLC16A1_ENST00000369626.3_Intron|SLC16A1_ENST00000433570.4_5'UTR|SLC16A1_ENST00000478835.1_Intron|RP11-31F15.1_ENST00000416193.1_5'Flank|RP11-31F15.1_ENST00000420168.1_5'Flank|RP11-31F15.1_ENST00000428411.1_5'Flank|RP11-31F15.1_ENST00000435800.2_5'Flank NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313) GGGCTGCCCCGTCCCCTCCGC 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L31801 HGNC:10922 Approved gene with protein product protein-coding gene "solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)", "solute carrier family 16 (monocarboxylate transporter), member 1" MCT, MCT1 1p13.2 2016-10-05 2016-02-17 BC026317 ENSG00000155380 8124722, 7835905 NM_003051 752 Solute carriers CCDS858 OTTHUMG00000012129 600682 NM_001166496 P53985 ENSG00000155380 uc001ecy.4 Q49A45|Q5T8R6|Q9NSJ9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6566 false 1316SLC16A1 6566 __UNKNOWN__ hg19 1 113498283 113498283 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:113498283A>C ENST00000538576.1 - 1 SLC16A1_ENST00000369626.3_Intron|SLC16A1_ENST00000433570.4_5'UTR|SLC16A1_ENST00000478835.1_Intron|RP11-31F15.1_ENST00000416193.1_5'Flank|RP11-31F15.1_ENST00000420168.1_5'Flank|RP11-31F15.1_ENST00000428411.1_5'Flank|RP11-31F15.1_ENST00000435800.2_5'Flank NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886) mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313) TACCACATGCAGCAGCCTCAT 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L31801 HGNC:10922 Approved gene with protein product protein-coding gene "solute carrier family 16 (monocarboxylic acid transporters), member 1", "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)", "solute carrier family 16 (monocarboxylate transporter), member 1" MCT, MCT1 1p13.2 2016-10-05 2016-02-17 BC026317 ENSG00000155380 8124722, 7835905 NM_003051 752 Solute carriers CCDS858 OTTHUMG00000012129 600682 NM_001166496 P53985 ENSG00000155380 uc001ecy.4 Q49A45|Q5T8R6|Q9NSJ9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6566 false 1317AP4B1 10717 __UNKNOWN__ hg19 1 114447565 114447565 + DE_NOVO_START_OUT_FRAME SNP G G A 1217397 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:114447565G>A ENST00000369569.1 - 1 AP4B1_ENST00000256658.4_DE_NOVO_START_OUT_FRAME|DCLRE1B_ENST00000369563.3_5'Flank|AP4B1_ENST00000369566.3_5'Flank|AP4B1_ENST00000369567.1_5'Flank|DCLRE1B_ENST00000466480.1_5'Flank NM_001253852.1 NP_001240781.1 Q9Y6B7 AP4B1_HUMAN adaptor related protein complex 4 beta 1 subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802) protein transporter activity (GO:0008565)|transporter activity (GO:0005215) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGCCCTACCGTCGGCCGGCA 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC014146 HGNC:572 Approved gene with protein product protein-coding gene SPG47 "spastic paraplegia 47", "adaptor-related protein complex 4, beta 1 subunit" BETA-4 "beta 4 subunit of AP-4", "AP-4 complex subunit beta-1" 1p13.2 2016-01-19 2016-01-12 AF092094 ENSG00000134262 10066790 NM_006594 CCDS865, CCDS76192 OTTHUMG00000011943 607245 NM_001253852 Q9Y6B7 ENSG00000134262 uc001eed.4 B7Z4X3|Q59EJ4|Q96CL6 true false 0.6705,0.3295 false false 1 false true false DCLRE1B:64858|AP4B1:10717 true true true true true false false false false false false false false false false false false false true false true false 0 true 0 false 0.586304,0.413696 false false true SNV 0x0501004a000515053f000101 1 false 87 rs1217397 10717 114447565 true 1318NHLH2 4808 __UNKNOWN__ hg19 1 116384580 116384580 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:116384580C>T ENST00000369506.1 - 1 NHLH2_ENST00000320238.3_5'Flank Q02577 HEN2_HUMAN nescient helix-loop-helix 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell differentiation (GO:0030154)|central nervous system development (GO:0007417)|mating behavior (GO:0007617)|ovulation cycle (GO:0042698)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCAGTGTGTCCCAGTACATA 0.3341645885286783 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M97508 HGNC:7818 Approved gene with protein product protein-coding gene HEN2 "nescient helix loop helix 2" NSCL2, bHLHa34 1p13.1 2016-10-05 2015-11-11 ENSG00000177551 1528853 NM_005599 420 Basic helix-loop-helix proteins CCDS885 OTTHUMG00000011969 162361 NM_001111061 Q02577 ENSG00000177551 uc057jrm.1 Q5T1P6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4808 false 1319ATP1A1 476 __UNKNOWN__ hg19 1 116916056 116916056 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:116916056C>T ENST00000295598.5 + 1 AL136376.1_ENST00000598661.1_Missense_Mutation_p.R59Q|ATP1A1_ENST00000537345.1_5'Flank NM_000701.7 NP_000692.2 P05023 AT1A1_HUMAN ATPase Na+/K+ transporting subunit alpha 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982) ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239) adrenal_gland(1356)|biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 1447 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021) CCCGCTCGCTCGGCCGGGAGC 0.7630922693266833 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X04297 HGNC:799 Approved gene with protein product protein-coding gene "ATPase, Na+/K+ transporting, alpha 1 polypeptide" "sodium/potassium-transporting ATPase subunit alpha-1", "sodium pump subunit alpha-1", "sodium-potassium ATPase catalytic subunit alpha-1" 1p13.1 2016-10-05 2016-02-10 D00099 3.6.3.9 ENSG00000163399 NM_001160233 1208 ATPase Na+/K+ transporting subunits CCDS887, CCDS53351, CCDS53352 OTTHUMG00000012109 182310 NM_000701 P05023 ENSG00000163399 uc001ege.5 B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 476 false 1320HMGCS2 3158 __UNKNOWN__ hg19 1 120307172 120307173 + Frame_Shift_Ins INS - - TTGGCCTCCAGGGCCA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:120307172_120307173insTTGGCCTCCAGGGCCA ENST00000369406.3 - 2 232 c.181_182insTGGCCCTGGAGGCCAA c.(181-183)gtcfs p.Y62fs HMGCS2_ENST00000544913.2_Frame_Shift_Ins_p.Y62fs|HMGCS2_ENST00000476640.1_Intron NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) hydroxymethylglutaryl-CoA synthase activity (GO:0004421) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAAGTAGACCTCCAGGGC 0.4875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X83618 HGNC:5008 Approved gene with protein product protein-coding gene "3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)", "3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)" 1p12 2017-03-24 2016-01-21 BC044217 2.3.3.10 ENSG00000134240 7851882, 7893153 NM_005518 CCDS905, CCDS53353 OTTHUMG00000012101 600234 NM_001166107 P54868 ENSG00000134240 uc001eid.4 B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3158 false 1321NBPF9 400818 __UNKNOWN__ hg19 1 144816621 144816621 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:144816621A>G ENST00000281815.8 + 5 NBPF9_ENST00000440491.2_Missense_Mutation_p.T252A|NBPF9_ENST00000338347.4_Missense_Mutation_p.T252A|NBPF9_ENST00000468645.1_Intron Q3BBW0 NBPF9_HUMAN NBPF member 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCGACTCAACTCTCATTGG 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ JQ388959 HGNC:31991 Approved gene with protein product protein-coding gene "neuroblastoma breakpoint family, member 9" AE01 1q21.2 2017-03-01 2017-03-01 ENSG00000269713 16079250 NM_001037675 662 NBPF members CCDS72895, CCDS72896 OTTHUMG00000013845 613999 NM_001037675 Q3BBW0 ENSG00000269713 uc057kjy.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 400818 false 1322FMO5 2330 __UNKNOWN__ hg19 1 146696659 146696661 + 5'UTR DEL CTA CTA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:146696659_146696661delCTA ENST00000254090.4 - 2 FMO5_ENST00000369272.3_5'UTR|FMO5_ENST00000441068.2_5'UTR|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000465173.1_Intron NM_001461.3 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCGCCTGTCCTAAAGAAAGGAT 0.49627791563275436 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z47553 HGNC:3773 Approved gene with protein product protein-coding gene 1q21.1 2015-09-11 Z47553 ENSG00000131781 8786146, 9119381 NM_001461 CCDS926, CCDS44209, CCDS44210 OTTHUMG00000014607 603957 NM_001144829 P49326 ENSG00000131781 uc001epi.4 B2RBG1|C9JJD1|Q8IV22 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2330 false 1323BCL9 607 __UNKNOWN__ hg19 1 147013362 147013362 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:147013362A>G ENST00000234739.3 + 1 NM_004326.3 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019) cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634) biliary_tract(2)|breast(206)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(85)|kidney(180)|large_intestine(94)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|stomach(121)|upper_aerodigestive_tract(192) 1205 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGGATTGCAGGAAAAGGGT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ T "IGH@, IGL@" B-ALL __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ B-cell CLL/lymphoma 9 607 1 1q21 yes L Dom Y13620 HGNC:1008 Approved gene with protein product protein-coding gene 1q21.2 2016-10-05 Y13620 ENSG00000116128 9490669 NM_004326 CCDS30833 OTTHUMG00000014031 602597 NM_004326 O00512 ENSG00000116128 uc031uul.2 Q5T489 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 607 false 1324NBPF14 25832 __UNKNOWN__ hg19 1 148011761 148011762 + Frame_Shift_Ins INS - - GA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:148011761_148011762insGA ENST00000369219.1 - 13 1501 c.1483_1484insTC c.(1483-1485)aaafs p.K495fs Q5TI25 NBPFE_HUMAN NBPF member 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(172)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(7) 269 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCCTTCTTTTCTTCCCCTT 0.44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL359176 HGNC:25232 Approved gene with protein product protein-coding gene "neuroblastoma breakpoint family, member 14" DJ328E19.C1.1 1q21.2 2017-03-01 2017-03-01 AK092351 ENSG00000270629 8619474, 9110174, 16079250 NM_015383 662 NBPF members OTTHUMG00000188198 614003 NM_015383 Q5TI25 ENSG00000270629 uc057kib.1 Q5TI23|Q8IX76|Q9UJI9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 25832 false 1325VPS45 11311 __UNKNOWN__ hg19 1 150039678 150039678 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:150039678G>A ENST00000369130.3 + 1 VPS45_ENST00000369128.5_Intron|VPS45_ENST00000535106.1_5'Flank NM_007259.4 NP_009190.2 Q9NRW7 VPS45_HUMAN vacuolar protein sorting 45 homolog __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|vesicle docking involved in exocytosis (GO:0006904) endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAGAATAGCGCCCGCGCG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U35246 HGNC:14579 Approved gene with protein product protein-coding gene VPS45B, VPS45A "vacuolar protein sorting 45A (yeast homolog)", "vacuolar protein sorting 45A (yeast)", "vacuolar protein sorting 45 homolog (S. cerevisiae)" h-vps45, H1 1q21.2 2016-04-05 2006-12-19 2016-04-05 U35246 ENSG00000136631 8996080 NM_007259 CCDS944, CCDS60244, CCDS72904 OTTHUMG00000012511 610035 NM_001279353 Q9NRW7 ENSG00000136631 uc001etp.5 D3DUZ9|F5H8K1|Q15715|Q53FR8|Q5T4P6|Q9Y4Z6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11311 false 1326ANXA9 8416 __UNKNOWN__ hg19 1 150955582 150955582 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:150955582A>G ENST00000368947.4 + 3 477 c.1A>G c.(1-3)Atg>Gtg p.M1V ANXA9_ENST00000474997.1_Intron NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268) cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) acetylcholine receptor activity (GO:0015464)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylserine binding (GO:0001786)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTAGCACCATGTCTGTGAC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR536481 HGNC:547 Approved gene with protein product protein-coding gene ANX31 1q21.3 2016-10-05 AJ009985 ENSG00000143412 9742942, 9931420 NM_003568 404 Annexins CCDS975 OTTHUMG00000035063 603319 NM_003568 O76027 ENSG00000143412 uc001ewa.3 Q5SZF1|Q6FI55|Q9BS00|Q9HBJ6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8416 false 1327FAM63A __UNKNOWN__ hg19 1 150975108 150975108 + 5'UTR SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:150975108T>C ENST00000361936.5 - 3 FAM63A_ENST00000361738.6_Missense_Mutation_p.K44E|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000470877.1_Intron NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAAGGGACTTGGCTGAGGGG 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471121 B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1328FAM63A __UNKNOWN__ hg19 1 150975123 150975123 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:150975123G>A ENST00000361936.5 - 3 FAM63A_ENST00000361738.6_Nonsense_Mutation_p.Q39*|FAM63A_ENST00000312210.5_Intron|FAM63A_ENST00000493834.2_Intron|FAM63A_ENST00000470877.1_Intron NM_018379.4 NP_060849.2 Q8N5J2 FA63A_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGGGGCACTGAAGGTGTTTA 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471121 B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1329LYSMD1 388695 __UNKNOWN__ hg19 1 151138250 151138250 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151138250G>T ENST00000368908.5 - 1 LYSMD1_ENST00000440902.2_Missense_Mutation_p.S3R|SCNM1_ENST00000368905.4_5'Flank|SCNM1_ENST00000461862.1_5'Flank NM_212551.4 NP_997716.1 Q96S90 LYSM1_HUMAN LysM domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAAAGGTCCGCTCCGCATAA 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX647911 HGNC:32070 Approved gene with protein product protein-coding gene "LysM, putative peptidoglycan-binding, domain containing 1" SB145, MGC35223, RP11-68I18.5 1q21.3 2016-10-05 2016-01-22 BX647911 ENSG00000163155 12477932 NM_212551 CCDS986, CCDS44218 OTTHUMG00000012260 NM_001136543 Q96S90 ENSG00000163155 uc001ewy.4 B4DQA1|Q69YX9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388695 false 1330PSMB4 5692 __UNKNOWN__ hg19 1 151372047 151372047 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151372047C>T ENST00000290541.6 + 1 NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome subunit beta 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839) lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCATTTTTTCTGCTACCGTG 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ S71381 HGNC:9541 Approved gene with protein product protein-coding gene "proteasome (prosome, macropain) subunit, beta type, 4" HN3, PROS26 1q21.3 2016-10-05 2015-08-12 D26600 ENSG00000159377 7918633 NM_002796 690 Proteasome CCDS996 OTTHUMG00000012494 602177 NM_002796 P28070 ENSG00000159377 uc001eyc.2 B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5692 false 1331PSMB4 5692 __UNKNOWN__ hg19 1 151372065 151372065 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151372065T>C ENST00000290541.6 + 1 56 c.2T>C c.(1-3)aTg>aCg p.M1T NM_002796.2 NP_002787.2 P28070 PSB4_HUMAN proteasome subunit beta 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839) lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGACTAAGATGGAAGCGTTT 0.5610972568578554 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ S71381 HGNC:9541 Approved gene with protein product protein-coding gene "proteasome (prosome, macropain) subunit, beta type, 4" HN3, PROS26 1q21.3 2016-10-05 2015-08-12 D26600 ENSG00000159377 7918633 NM_002796 690 Proteasome CCDS996 OTTHUMG00000012494 602177 NM_002796 P28070 ENSG00000159377 uc001eyc.2 B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5692 false 1332OAZ3 51686 __UNKNOWN__ hg19 1 151739222 151739222 + 5'UTR DEL T T - 751011390 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151739222delT ENST00000479764.1 + 1 OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|MRPL9_ENST00000368829.3_5'Flank|MRPL9_ENST00000368830.3_5'Flank|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron|MRPL9_ENST00000467306.1_5'Flank Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283) blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Ornithine(DB00129) GTGTCGCCCCTCTGTCTACTC 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL589765 HGNC:8097 Approved gene with protein product protein-coding gene 1q21.3 2014-11-19 AF175296 ENSG00000143450 10781085 NM_016178 CCDS58028, CCDS76216, CCDS81378 OTTHUMG00000013061 605138 NM_001134939 Q9UMX2 ENSG00000143450 uc010pdl.4 E7EUE7|Q6GMR0 true false false false false false false OAZ3:51686 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205000402000200 1 false 144 rs751011390 51686 151739222 false 1333OAZ3 51686 __UNKNOWN__ hg19 1 151739333 151739333 + 5'UTR SNP C C T 188726350 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151739333C>T ENST00000479764.1 + 1 OAZ3_ENST00000453029.2_Intron|OAZ3_ENST00000321531.5_Intron|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Intron|MRPL9_ENST00000368829.3_5'Flank|MRPL9_ENST00000368830.3_5'Flank|RP11-98D18.16_ENST00000596133.1_RNA|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron|MRPL9_ENST00000467306.1_5'Flank Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283) blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Ornithine(DB00129) GATCACTCTCCGGGAGAAGAT 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL589765 HGNC:8097 Approved gene with protein product protein-coding gene 1q21.3 2014-11-19 AF175296 ENSG00000143450 10781085 NM_016178 CCDS58028, CCDS76216, CCDS81378 OTTHUMG00000013061 605138 NM_001134939 Q9UMX2 ENSG00000143450 uc010pdl.4 E7EUE7|Q6GMR0 true false false false false false false OAZ3:51686 false true true true false false false false false false false true false false false false false false false true false false 0 false 0 false 0.999863,0.000137372 false false false SNV 0x050000080a05040416000100 1 false 135 rs188726350 51686 151739333 true 1334OAZ3 51686 __UNKNOWN__ hg19 1 151739679 151739679 + 5'UTR SNP C C A 201902593 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:151739679C>A ENST00000479764.1 + 2 OAZ3_ENST00000453029.2_Missense_Mutation_p.R38S|OAZ3_ENST00000321531.5_Missense_Mutation_p.R25S|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Missense_Mutation_p.R25S|MRPL9_ENST00000368829.3_5'Flank|MRPL9_ENST00000368830.3_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000577465.1_Intron|MRPL9_ENST00000467306.1_5'Flank|RP11-98D18.16_ENST00000596133.1_5'Flank Q9UMX2 OAZ3_HUMAN ornithine decarboxylase antizyme 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of polyamine transmembrane transport (GO:1902268)|polyamine biosynthetic process (GO:0006596)|positive regulation of protein catabolic process (GO:0045732)|putrescine transport (GO:0015847)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of phosphoprotein phosphatase activity (GO:0043666)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283) blood microparticle (GO:0072562)|cytosol (GO:0005829)|nucleus (GO:0005634)|sperm flagellum (GO:0036126) ornithine decarboxylase inhibitor activity (GO:0008073)|putrescine transmembrane transporter activity (GO:0015489) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Ornithine(DB00129) ACTCCAGCCCCGTTCCTGCCT 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL589765 HGNC:8097 Approved gene with protein product protein-coding gene 1q21.3 2014-11-19 AF175296 ENSG00000143450 10781085 NM_016178 CCDS58028, CCDS76216, CCDS81378 OTTHUMG00000013061 605138 NM_001134939 Q9UMX2 ENSG00000143450 uc010pdl.4 E7EUE7|Q6GMR0 true false false false false false false OAZ3:51686 false true false false false false false false false true false true false false false false false false false true false false 0 false 0 false 0.999931,3.4343e-005,.,3.4343e-005 false false false SNV 0x050000000a05040402000104 1 false 137 rs201902593 51686 151739679 true 1335FLG 2312 __UNKNOWN__ hg19 1 152275177 152275177 + Silent SNP T T C 139645876 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152275177T>C ENST00000368799.1 - 3 12221 c.12185A>G c.(12184-12186)tAa>tGa p.*4062* FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275) cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) biliary_tract(27)|breast(13)|central_nervous_system(44)|genital_tract(91)|large_intestine(175)|lung(5)|pancreas(134)|testis(65)|upper_aerodigestive_tract(124) 678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTAATTTCTTACTCATAGTA 0.32169576059850374 __UNKNOWN__ __UNKNOWN__ Ichthyosis __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris Familial Cancer Database M24355 HGNC:3748 Approved gene with protein product protein-coding gene 1q21.3 2017-03-24 XM_048104 ENSG00000143631 2740331, 2248957, 16444271 NM_002016 1350|863 S100 fused type protein family|EF-hand domain containing CCDS30860 OTTHUMG00000012202 135940 NM_002016 P20930 ENSG00000143631 uc001ezu.1 Q01720|Q5T583|Q9UC71 true false false false false false false FLG:2312 false true false false false false false false false false false false false false false false false false false true false false 0 false 0 true 0.999966,3.4343e-005 false false false SNV 0x050000000305040402000100 1 false 134 rs139645876 2312 152275177 true 1336FLG2 388698 __UNKNOWN__ hg19 1 152323087 152323087 + Nonstop_Mutation SNP C C G 150529054 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152323087C>G ENST00000388718.5 - 3 7248 c.7175G>C c.(7174-7176)tGa>tCa p.*2392S FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ establishment of skin barrier (GO:0061436) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) biliary_tract(2)|breast(33)|central_nervous_system(44)|large_intestine(35)|pancreas(22)|upper_aerodigestive_tract(120) 256 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATAACTGTCAATGTCTAGA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ118293 HGNC:33276 Approved gene with protein product protein-coding gene IFPS 1q21.3 2015-09-11 AY827490 ENSG00000143520 19384417 NM_001014342 1350|863 S100 fused type protein family|EF-hand domain containing CCDS30861 OTTHUMG00000012245 616284 NM_001014342 Q5D862 ENSG00000143520 uc001ezw.5 Q9H4U1 true false 0.997,0.002995 false false 1 false false false FLG2:388698|FLG-AS1:339400 false true true true true false false false false false false false false false false false false false false true false false 0 false 0 false 0.997321,0.00267876 false false false SNV 0x050000080205040436000100 1 false 134 rs150529054 388698 152323087 true 1337FLG2 388698 __UNKNOWN__ hg19 1 152324500 152324501 + Frame_Shift_Ins INS - - C 760715355 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152324500_152324501insC ENST00000388718.5 - 3 5835 c.5761_5762insG c.(5761-5763)actfs p.T1921fs FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ establishment of skin barrier (GO:0061436) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198) biliary_tract(2)|breast(33)|central_nervous_system(44)|large_intestine(35)|pancreas(22)|upper_aerodigestive_tract(120) 256 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATGAGTAGTTTGGTGTCT 0.5175 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ118293 HGNC:33276 Approved gene with protein product protein-coding gene IFPS 1q21.3 2015-09-11 AY827490 ENSG00000143520 19384417 NM_001014342 1350|863 S100 fused type protein family|EF-hand domain containing CCDS30861 OTTHUMG00000012245 616284 NM_001014342 Q5D862 ENSG00000143520 uc001ezw.5 Q9H4U1 true false false false false false false FLG2:388698|FLG-AS1:339400 false true true false false false false false false false true false false false false false false false false true false false 0 false 0 false false false false DIV 0x050000081205040402000200 1 false 144 rs760715355 388698 152324500 true 1338LCE4A 199834 __UNKNOWN__ hg19 1 152681553 152681553 + START_CODON_SNP SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152681553T>A ENST00000368777.1 + 2 258 c.2T>A c.(1-3)aTg>aAg p.M1K LCE4A_ENST00000335535.3_START_CODON_SNP_p.M1K Q5TA78 LCE4A_HUMAN late cornified envelope 4A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ keratinization (GO:0031424) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(12)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCACCAAGATGTCCTGCCAG 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC113448 HGNC:16613 Approved gene with protein product protein-coding gene SPRL4A "small proline rich-like (epidermal differentiation complex) 4A" LEP8 1q21.3 2016-10-05 2004-10-15 2004-10-11 BI670517 ENSG00000187170 11698679 NM_178356 627 Late cornified envelope proteins CCDS1022 OTTHUMG00000014394 612618 NM_178356 Q5TA78 ENSG00000187170 uc057lag.1 Q14D97 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 199834 false 1339SPRR4 163778 __UNKNOWN__ hg19 1 152944369 152944369 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:152944369G>A ENST00000328051.2 + 2 52 c.3G>A c.(1-3)atG>atA p.M1I NM_173080.1 NP_775103.1 Q96PI1 SPRR4_HUMAN small proline rich protein 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ keratinization (GO:0031424)|peptide cross-linking (GO:0018149) cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAGAGCAATGTCTTCCCAGC 0.5062344139650873 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112172 HGNC:23173 Approved gene with protein product protein-coding gene "small proline-rich protein 4" 1q21.3 2016-01-25 2016-01-25 AF335109 ENSG00000184148 11719550, 11279051 NM_173080 1353 Small proline rich proteins CCDS1031 OTTHUMG00000012450 616363 NM_173080 Q96PI1 ENSG00000184148 uc001fav.2 Q2M1Y7|Q5T522 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 163778 false 1340SPRR2G 6706 __UNKNOWN__ hg19 1 153122367 153122367 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153122367A>G ENST00000368748.4 - 2 259 c.220T>C c.(220-222)Taa>Caa p.*74Q NM_001014291.3 NP_001014313.1 Q9BYE4 SPR2G_HUMAN small proline rich protein 2G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216) cornified envelope (GO:0001533)|cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGTGATGTTACTTGCTCTTG 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL157405 HGNC:11267 Approved gene with protein product protein-coding gene "small proline-rich protein 2G" 1q21.3 2017-03-31 2016-01-25 AF333957 ENSG00000159516 8325635, 11279051 1353 Small proline rich proteins CCDS30868 OTTHUMG00000014399 617590 NM_001014291 Q9BYE4 ENSG00000159516 uc009wod.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6706 false 1341LELP1 149018 __UNKNOWN__ hg19 1 153177184 153177184 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153177184A>G ENST00000368747.1 + 2 111 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_001010857.2 NP_001010857.1 Q5T871 LELP1_HUMAN late cornified envelope like proline rich 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAAGAAACAATGTCGAGTGA 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC130511 HGNC:32046 Approved gene with protein product protein-coding gene 1q21.3 2016-04-06 2016-04-06 ENSG00000203784 NM_001010857 CCDS30869 OTTHUMG00000013935 611042 NM_001010857 Q5T871 ENSG00000203784 uc001fbl.5 A1L4E1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 149018 false 1342S100A7A 338324 __UNKNOWN__ hg19 1 153390542 153390542 + 5'UTR SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153390542G>C ENST00000368729.4 + 2 S100A7A_ENST00000329256.2_5'UTR|S100A7A_ENST00000368728.2_5'UTR NM_176823.3 NP_789793.1 Q86SG5 S1A7A_HUMAN S100 calcium binding protein A7A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|protein self-association (GO:0043621) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCCTGAAGGCTTTTTGAAA 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471121 HGNC:21657 Approved gene with protein product protein-coding gene S100A15, S100A7L1 "S100 calcium binding protein A15", "S100 calcium binding protein A7-like 1" S100A7f 1q21.3 2016-10-05 2006-09-11 2006-09-11 AY189118 ENSG00000184330 11230159 NM_176823 459|863 S100 calcium binding proteins|EF-hand domain containing CCDS30872 OTTHUMG00000013122 617427 NM_176823 Q86SG5 ENSG00000184330 uc001fbt.1 D3DV38|Q5SY69 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 338324 false 1343S100A7 6278 __UNKNOWN__ hg19 1 153431505 153431505 + 5'UTR SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153431505G>T ENST00000368723.3 - 2 S100A7_ENST00000368722.1_5'UTR NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTCAAAAAGCCTTCAGGAA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M86757 HGNC:10497 Approved gene with protein product protein-coding gene PSOR1 "S100 calcium-binding protein A7 (psoriasin 1)", "S100 calcium binding protein A7 (psoriasin 1)" S100A7c 1q21.3 2016-10-05 2006-09-11 BC034687 ENSG00000143556 1940442 NM_002963 459|863 S100 calcium binding proteins|EF-hand domain containing CCDS1039 OTTHUMG00000013123 600353 NM_002963 P31151 ENSG00000143556 uc001fbv.2 Q5SY67|Q6FGE3|Q9H1E2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6278 false 1344S100A5 6276 __UNKNOWN__ hg19 1 153514241 153514241 + 5'UTR SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153514241A>C ENST00000368718.1 - 1 S100A5_ENST00000359215.1_5'UTR|S100A5_ENST00000368717.2_5'Flank NM_002962.1 NP_002953.2 P33763 S10A5_HUMAN S100 calcium binding protein A5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ neuronal cell body (GO:0043025)|nucleus (GO:0005634) calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTGTGGGACAAACACAGG 0.4912718204488778 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z18954 HGNC:10495 Approved gene with protein product protein-coding gene S100D "S100 calcium-binding protein A5" 1q21.3 2016-10-05 2001-11-28 Z18954 ENSG00000196420 8341667 NM_002962 459|863 S100 calcium binding proteins|EF-hand domain containing CCDS1041 OTTHUMG00000013547 176991 NM_002962 P33763 ENSG00000196420 uc001fbx.3 Q52LE7|Q5RHS3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6276 false 1345S100A4 6275 __UNKNOWN__ hg19 1 153517519 153517519 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153517519G>A ENST00000368715.1 - 1 S100A4_ENST00000368716.4_Intron|S100A4_ENST00000354332.4_Intron|S100A4_ENST00000368714.1_Intron|S100A5_ENST00000359215.1_5'Flank|S100A5_ENST00000368717.2_5'Flank|S100A5_ENST00000368718.1_5'Flank|S100A4_ENST00000481009.1_Intron P26447 S10A4_HUMAN S100 calcium binding protein A4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ epithelial to mesenchymal transition (GO:0001837)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Trifluoperazine(DB00831) CTGGAGATTCGGGCAGCAAAC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z33457 HGNC:10494 Approved gene with protein product protein-coding gene MTS1, CAPL "S100 calcium-binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)", "S100 calcium binding protein A4 (calcium protein, calvasculin, metastasin, murine placental homolog)" P9KA, 18A2, PEL98, 42A, FSP1 "fibroblast-specific protein-1" 1q21.3 2016-10-05 2006-09-11 BC016300 ENSG00000196154 3155863 NM_002961 459|863 S100 calcium binding proteins|EF-hand domain containing CCDS1042 OTTHUMG00000013546 114210 NM_002961 P26447 ENSG00000196154 uc057lbo.1 A8K7R8|D3DV46|Q6ICP8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6275 false 1346S100A16 140576 __UNKNOWN__ hg19 1 153580653 153580653 + 5'UTR SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153580653C>A ENST00000368704.1 - 2 S100A16_ENST00000368706.4_5'UTR|S100A16_ENST00000368705.2_5'UTR|S100A16_ENST00000368703.2_5'UTR|S100A16_ENST00000474991.1_Splice_Site Q96FQ6 S10AG_HUMAN S100 calcium binding protein A16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ response to calcium ion (GO:0051592) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGGCGGGGCCTGGACACCA 0.571072319201995 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Melanoma(71;1388 1729 37039 46098) CH471121 HGNC:20441 Approved gene with protein product protein-coding gene S100F, DT1P1A7, MGC17528 1q21.3 2016-10-05 BC010541 ENSG00000188643 9417904 NM_080388 459|863 S100 calcium binding proteins|EF-hand domain containing CCDS1045 OTTHUMG00000013545 617437 NM_001317007 Q96FQ6 ENSG00000188643 uc001fcd.2 A8K439|D3DV52|Q5RHS6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 140576 false 1347S100A13 6284 __UNKNOWN__ hg19 1 153604519 153604519 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153604519G>A ENST00000368699.1 - 2 S100A13_ENST00000339556.4_5'Flank|CHTOP_ENST00000368690.3_5'Flank|CHTOP_ENST00000368694.3_5'Flank|S100A13_ENST00000392622.1_5'Flank|S100A13_ENST00000392623.1_5'Flank|CHTOP_ENST00000403433.1_5'Flank|S100A13_ENST00000440685.2_5'Flank|RP1-178F15.4_ENST00000469931.2_RNA|RP1-178F15.5_ENST00000497086.1_RNA|RP1-178F15.4_ENST00000607839.1_RNA|S100A13_ENST00000491177.1_5'Flank|CHTOP_ENST00000495554.1_5'Flank NM_001024210.1 NP_001019382.1 Q99584 S10AD_HUMAN S100 calcium binding protein A13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytokine secretion (GO:0050663)|interleukin-1 alpha secretion (GO:0050703)|mast cell degranulation (GO:0043303)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of cell shape (GO:0008360)|response to copper ion (GO:0046688)|response to electrical stimulus (GO:0051602) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mast cell granule (GO:0042629)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471) calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|fibroblast growth factor binding (GO:0017134)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Amlexanox(DB01025)|Olopatadine(DB00768) CCAGCCATCCGATGTCTGTCT 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(156;1296 1989 17590 30930 49554) X99920 HGNC:10490 Approved gene with protein product protein-coding gene "S100 calcium-binding protein A13" 1q21.3 2016-10-05 2001-11-28 AK097132 ENSG00000189171 8985590 NM_005979 459 S100 calcium binding proteins CCDS30874 OTTHUMG00000036641 601989 NM_001024210 Q99584 ENSG00000189171 uc057lce.1 Q52PI9|Q6FGF8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6284 false 1348SLC27A3 11000 __UNKNOWN__ hg19 1 153752478 153752478 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153752478A>G ENST00000271857.2 + 10 3196 c.2436A>G c.(2434-2436)tgA>tgG p.*812W SLC27A3_ENST00000368661.3_Nonstop_Mutation_p.*731W|SLC27A3_ENST00000484014.1_Intron Q5K4L6 S27A3_HUMAN solute carrier family 27 member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ fatty acid metabolic process (GO:0006631) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739) fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCGAATCTGAGAACTTCCAC 0.5386533665835411 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC029792 HGNC:10997 Approved gene with protein product protein-coding gene "solute carrier family 27 (fatty acid transporter), member 3" FATP3, MGC4365, ACSVL3 1q21.3 2016-10-05 2016-02-17 BC009916 ENSG00000143554 9671728 NM_024330 752|40 Solute carriers|Acyl-CoA synthetase family CCDS1053 OTTHUMG00000037155 604193 NM_001317929 Q5K4L6 ENSG00000143554 uc001fcz.3 Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11000 false 1349SLC39A1 27173 __UNKNOWN__ hg19 1 153935543 153935543 + 5'UTR SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153935543G>A ENST00000368623.3 - 1 SLC39A1_ENST00000368621.1_5'UTR|SLC39A1_ENST00000310483.6_Intron|SLC39A1_ENST00000356205.4_Intron|SLC39A1_ENST00000537590.1_Intron|CREB3L4_ENST00000271889.4_5'Flank|CREB3L4_ENST00000368607.3_5'Flank|CRTC2_ENST00000368630.3_5'Flank|CRTC2_ENST00000368633.1_5'Flank|CREB3L4_ENST00000405694.3_5'Flank|SLC39A1_ENST00000461071.1_Intron|CRTC2_ENST00000476883.1_5'Flank|RP11-422P24.10_ENST00000608147.1_5'Flank Q9NY26 S39A1_HUMAN solute carrier family 39 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cation transport (GO:0006812)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) inorganic cation transmembrane transporter activity (GO:0022890)|zinc ion transmembrane transporter activity (GO:0005385) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCTGGAGCTGGAGTTCCCCT 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471121 HGNC:12876 Approved gene with protein product protein-coding gene ZIRTL "zinc/iron regulated transporter-like", "solute carrier family 39 (zinc transporter), member 1" ZIP1 1q21.3 2016-10-05 2002-02-15 2016-02-17 BC007886 ENSG00000143570 10610721, 10681536 NM_014437 752 Solute carriers CCDS1055, CCDS72920 OTTHUMG00000037158 604740 NM_001271957 Q9NY26 ENSG00000143570 uc031ppi.1 B4DDY7|Q5T4K1|Q8N2H7|Q9BTV0|Q9UBI7|Q9Y2Z7|Q9Y380 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 27173 false 1350RPS27 6232 __UNKNOWN__ hg19 1 153963239 153963239 + 5'UTR SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:153963239C>T ENST00000368567.4 + 1 RPS27_ENST00000392558.4_5'UTR|RAB13_ENST00000368575.3_5'Flank|RPS27_ENST00000493224.1_Splice_Site|RAB13_ENST00000462680.1_5'Flank NM_001030.4 NP_001021.1 P42677 RS27_HUMAN ribosomal protein S27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083) cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTTCGCTCCTTTCCGGCGG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U57847 HGNC:10416 Approved gene with protein product protein-coding gene "ribosomal protein S27 (metallopanstimulin 1)" MPS-1, MPS1, S27 "metallopanstimulin 1" 1q21.3 2016-10-05 2008-08-29 U57847 ENSG00000177954 8908372, 8407955 NM_001030 728 S ribosomal proteins CCDS1059 OTTHUMG00000036591 603702 NM_001030 P42677 ENSG00000177954 uc001fdv.4 Q5T4L6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6232 false 1351HAX1 10456 __UNKNOWN__ hg19 1 154245142 154245142 + 5'UTR SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:154245142T>G ENST00000328703.7 + 1 HAX1_ENST00000483970.2_5'UTR|HAX1_ENST00000457918.2_5'UTR|HAX1_ENST00000532105.1_5'Flank NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214) actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667) interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCGCAGGTTTCCCCCGTCTG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ Kostmann syndrome __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis Familial Cancer Database U68566 HGNC:16915 Approved gene with protein product protein-coding gene HS1BP1, HCLSBP1 "HCLS1 (and PKD2) associated protein" 1q21.3 2017-03-24 U68566 ENSG00000143575 9058808, 10760273 NM_006118 CCDS1064, CCDS44230 OTTHUMG00000035978 605998 NM_001018837 O00165 ENSG00000143575 uc001fes.5 A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10456 false 1352FLAD1 80308 __UNKNOWN__ hg19 1 154956373 154956373 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:154956373A>G ENST00000315144.10 + 2 FLAD1_ENST00000368433.1_Missense_Mutation_p.D68G|FLAD1_ENST00000292180.3_Missense_Mutation_p.D68G|FLAD1_ENST00000368432.1_5'UTR|FLAD1_ENST00000368431.3_5'UTR|FLAD1_ENST00000295530.2_5'Flank|FLAD1_ENST00000368428.1_5'Flank|FLAD1_ENST00000405236.2_5'Flank|FLAD1_ENST00000487371.1_Intron NM_201398.2 NP_958800.1 Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FAD biosynthetic process (GO:0006747)|Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|FMN adenylyltransferase activity (GO:0003919) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCCTGTAGACCTGGCAGGC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U79241 HGNC:24671 Approved gene with protein product protein-coding gene "Fad1, flavin adenine dinucleotide synthetase, homolog (yeast)", "FAD1 flavin adenine dinucleotide synthetase homolog (S. cerevisiae)", "flavin adenine dinucleotide synthetase" PP591, FAD1 1q21.3 2016-10-05 2013-03-05 2.7.7.2 ENSG00000160688 NM_025207 CCDS1078, CCDS1079, CCDS53371, CCDS53372 OTTHUMG00000037416 610595 NM_001184891 Q8NFF5 ENSG00000160688 uc001fge.3 Q8N5J1|Q8N686|Q8WU93|Q8WUJ4|Q96CR8|Q99764|Q9HBN6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80308 false 1353GBA 2629 __UNKNOWN__ hg19 1 155214473 155214473 + 5'UTR SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:155214473A>G ENST00000428024.3 - 1 GBA_ENST00000327247.5_5'Flank|GBA_ENST00000368373.3_5'Flank|GBA_ENST00000427500.3_5'Flank|GBA_ENST00000536770.1_5'Flank|GBA_ENST00000493842.1_5'Flank NM_001171811.1 NP_001165282.1 P04062 GLCM_HUMAN glucosylceramidase beta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glucosylceramide catabolic process (GO:0006680)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of MAP kinase activity (GO:0043407)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of water loss via skin (GO:0033561)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to pH (GO:0009268)|response to testosterone (GO:0033574)|response to thyroid hormone (GO:0097066)|skin morphogenesis (GO:0043589)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)|termination of signal transduction (GO:0023021) extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765) glucosylceramidase activity (GO:0004348)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Velaglucerase alfa(DB06720) TCGGGGCGGGACCTGGATTGG 0.6159600997506235 __UNKNOWN__ __UNKNOWN__ Gaucher disease type I __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ glucocerebrosidase insufficiency Familial Cancer Database AL713999 HGNC:4177 Approved gene with protein product protein-coding gene GLUC "glucosylceramidase", "glucosidase, beta; acid (includes glucosylceramidase)", "glucosidase, beta, acid" GBA1 1q22 2017-07-26 2016-03-15 M19285 3.2.1.21 ENSG00000177628 3359914 NM_000157 CCDS1102, CCDS53373, CCDS53374 OTTHUMG00000035841 606463 NM_000157 P04062 ENSG00000177628 uc001fjk.4 A8K796|B7Z5G2|B7Z6S1|J3KQG4|J3KQK9|Q16545|Q4VX22|Q6I9R6|Q9UMJ8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2629 false 1354FCRL3 115352 __UNKNOWN__ hg19 1 157670278 157670278 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:157670278A>T ENST00000368184.3 - 2 294 c.2T>A c.(1-3)aTg>aAg p.M1K FCRL3_ENST00000368186.5_START_CODON_SNP_p.M1K|FCRL3_ENST00000473231.1_5'Flank NM_052939.3 NP_443171.2 Q96P31 FCRL3_HUMAN Fc receptor like 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|lung(1)|pancreas(22) 154 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACAGAAGCATGGGCACCGG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF064732 HGNC:18506 Approved gene with protein product protein-coding gene "Fc receptor-like 3" FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c 1q23.1 2016-10-05 2016-01-21 AF459027 ENSG00000160856 11493702, 12014205 NM_052939 471|594 CD molecules|Immunoglobulin like domain containing CCDS1167, CCDS81385 OTTHUMG00000019400 606510 NM_001320333 Q96P31 ENSG00000160856 uc001frb.4 A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 115352 false 1355FCRL2 79368 __UNKNOWN__ hg19 1 157716528 157716528 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:157716528A>G ENST00000361516.3 - 12 1574 c.1525T>C c.(1525-1527)Taa>Caa p.*509Q FCRL2_ENST00000368181.4_Nonstop_Mutation_p.*203Q|FCRL2_ENST00000392274.3_3'UTR NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor like 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) SH3/SH2 adaptor activity (GO:0005070) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCAAGTGTTATGATTTCTTC 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF064733 HGNC:14875 Approved gene with protein product protein-coding gene SPAP1 "SH2 domain-containing phosphatase anchor protein 1", "Fc receptor-like 2" FCRH2, IRTA4, CD307b 1q23.1 2016-01-21 2005-03-23 2016-01-21 AF319438 ENSG00000132704 11162587 NM_030764 471|594 CD molecules|Immunoglobulin like domain containing CCDS1168 OTTHUMG00000019399 606509 NM_001159488 Q96LA5 ENSG00000132704 uc001fre.3 A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79368 false 1356CD1E 913 __UNKNOWN__ hg19 1 158323779 158323779 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:158323779A>G ENST00000368167.3 + 1 240 c.1A>G c.(1-3)Atg>Gtg p.M1V CD1E_ENST00000368160.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368161.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368163.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368166.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368165.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368164.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368156.1_START_CODON_SNP_p.M1V|CD1E_ENST00000452291.2_START_CODON_SNP_p.M1V|CD1E_ENST00000368155.3_START_CODON_SNP_p.M1V|CD1E_ENST00000368154.1_START_CODON_SNP_p.M1V|CD1E_ENST00000368157.1_START_CODON_SNP_p.M1V|CD1E_ENST00000444681.2_START_CODON_SNP_p.M1V|CD1E_ENST00000434258.1_Intron|CD1E_ENST00000464822.1_5'Flank NM_030893.3 NP_112155.2 P15812 CD1E_HUMAN CD1e molecule __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antigen processing and presentation (GO:0019882)|immune response (GO:0006955) endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764) lipid binding (GO:0008289) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(99)|pancreas(22) 190 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCTTCAATGCTGCTCCT 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X79519 HGNC:1638 Approved gene with protein product protein-coding gene "CD1E antigen, e polypeptide", "CD1e antigen" 1q23.1 2014-11-19 2006-03-28 AJ289111 ENSG00000158488 10948205 NM_030893 591|471 C1-set domain containing|CD molecules CCDS41417, CCDS41418, CCDS41419, CCDS41420, CCDS41421, CCDS41422, CCDS53387, CCDS53388, CCDS53389, CCDS53390, CCDS53384, CCDS53385, CCDS53386 OTTHUMG00000017515 188411 NM_001042583 P15812 ENSG00000158488 uc001fse.4 B4DZV3|E7EP01|Q5TDJ9|Q5TDK3|Q5TDK4|Q5TDK5|Q5TDK6|Q5TDK8|Q5TDL1|Q712E4|Q712E5|Q712E6|Q712E7|Q712E8|Q712E9|Q712F0|Q712F1|Q712F2|Q712F3|Q712F4|Q712F5|Q96TD0|Q96TD1|Q9UMM1|Q9Y5M3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 913 false 1357OR10Z1 128368 __UNKNOWN__ hg19 1 158576993 158576994 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:158576993_158576994insC ENST00000361284.1 + 1 765 c.765_766insC c.(766-768)tccfs p.S256fs NM_001004478.1 NP_001004478.1 Q8NGY1 O10Z1_HUMAN olfactory receptor family 10 subfamily Z member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGTGCTTCCTTCGTGT 0.4875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471121 HGNC:14996 Approved gene with protein product protein-coding gene "olfactory receptor, family 10, subfamily Z, member 1" 1q23.1 2015-12-09 2015-12-09 AB065635 ENSG00000198967 NM_001004478 157 Olfactory receptors, family 10 CCDS30901 OTTHUMG00000019637 NM_001004478 Q8NGY1 ENSG00000198967 uc010pio.2 Q5VYL0|Q6IFR7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 128368 false 1358MNDA 4332 __UNKNOWN__ hg19 1 158815534 158815535 + Frame_Shift_Ins INS - - AC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:158815534_158815535insAC ENST00000368141.4 + 5 989 c.728_729insAC c.(727-729)aagfs p.T244fs NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCCAGTAAGACTCAATAT 0.395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M81750 HGNC:7183 Approved gene with protein product protein-coding gene PYHIN3 1q23.1 2017-03-23 BC032319 ENSG00000163563 1644857, 7512843, 25665578 NM_002432 994|995 Pyrin domain containing|Pyrin and HIN domain family CCDS1177 OTTHUMG00000022776 159553 NM_002432 P41218 ENSG00000163563 uc001fsz.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4332 false 1359AIM2 9447 __UNKNOWN__ hg19 1 159032484 159032484 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:159032484A>C ENST00000368130.4 - 6 1319 c.1030T>G c.(1030-1032)Tag>Gag p.*344E NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209) AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634) double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTACTTCTCTATGTTTTTTTT 0.38154613466334164 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC010940 HGNC:357 Approved gene with protein product protein-coding gene PYHIN4 1q23.1-q23.2 2017-06-08 AF024714 ENSG00000163568 9242382, 25665578 NM_004833 995 Pyrin and HIN domain family CCDS1181 OTTHUMG00000037183 604578 NM_004833 O14862 ENSG00000163568 uc001ftj.2 A8K7M7|Q5T3V9|Q96FG9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9447 false 1360SLAMF8 56833 __UNKNOWN__ hg19 1 159796689 159796689 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:159796689A>T ENST00000289707.5 + 1 150 c.1A>T c.(1-3)Atg>Ttg p.M1L SLAMF8_ENST00000368104.4_START_CODON_SNP_p.M1L|SLAMF8_ENST00000471286.1_5'Flank NM_020125.2 NP_064510.1 Q9P0V8 SLAF8_HUMAN SLAM family member 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to drug (GO:0035690)|defense response to bacterium (GO:0042742)|phagosome acidification (GO:0090383)|regulation of kinase activity (GO:0043549)|regulation of NAD(P)H oxidase activity (GO:0033860) integral component of membrane (GO:0016021) receptor activity (GO:0004872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGAGAAAGATGGTCATGAG 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC109194 HGNC:21391 Approved gene with protein product protein-coding gene BLAME, SBBI42, CD353 1q23.2 2016-10-05 AF146761 ENSG00000158714 11313408 NM_020125 471|594 CD molecules|Immunoglobulin like domain containing CCDS1188, CCDS81387 OTTHUMG00000035433 606620 NM_020125 Q9P0V8 ENSG00000158714 uc001fue.5 Q32MC6|Q5VU15 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56833 false 1361LY9 4063 __UNKNOWN__ hg19 1 160797604 160797604 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:160797604T>G ENST00000263285.6 + 10 1996 c.1966T>G c.(1966-1968)Tga>Gga p.*656G LY9_ENST00000368037.5_Nonstop_Mutation_p.*642G|LY9_ENST00000392203.4_Nonstop_Mutation_p.*566G|LY9_ENST00000368040.1_Nonstop_Mutation_p.*271G|LY9_ENST00000368041.2_Nonstop_Mutation_p.*527G|LY9_ENST00000341032.4_Nonstop_Mutation_p.*522G Q9HBG7 LY9_HUMAN lymphocyte antigen 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155) integral component of membrane (GO:0016021) receptor activity (GO:0004872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATTTCACCTGAAAGGAAAA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L42621 HGNC:6730 Approved gene with protein product protein-coding gene CD229, mLY9, SLAMF3, hly9 1q23.3 2014-11-18 L42621 ENSG00000122224 8537117, 7797269 NM_002348 471|594 CD molecules|Immunoglobulin like domain containing CCDS30916, CCDS30917, CCDS65695, CCDS65696 OTTHUMG00000024007 600684 NM_001033667 Q9HBG7 ENSG00000122224 uc001fwu.5 A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4063 false 1362FCRLA 84824 __UNKNOWN__ hg19 1 161677004 161677004 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:161677004A>T ENST00000236938.6 + 1 243 c.1A>T c.(1-3)Atg>Ttg p.M1L FCRLA_ENST00000367957.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000367959.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000546024.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000540521.1_START_CODON_SNP_p.M1L|FCRLA_ENST00000367949.2_START_CODON_SNP_p.M1L|FCRLA_ENST00000350710.3_START_CODON_SNP_p.M1L|FCRLA_ENST00000540926.1_5'UTR|FCRLA_ENST00000294796.4_5'Flank|FCRLA_ENST00000309691.6_5'Flank|FCRLA_ENST00000349527.4_5'Flank|FCRLA_ENST00000367950.1_5'Flank|FCRLA_ENST00000367953.3_5'Flank|FCRLA_ENST00000470841.1_5'Flank NM_032738.3 NP_116127.3 Q7L513 FCRLA_HUMAN Fc receptor like A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell differentiation (GO:0030154) cytoplasm (GO:0005737)|extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGAGGTTTCATGTTGAAGAA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF064729 HGNC:18504 Approved gene with protein product protein-coding gene FCRLM1 "Fc receptor-like and mucin-like 1", "Fc receptor-like A" MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX 1q23.3 2016-01-21 2006-09-26 2016-01-21 AF531423 ENSG00000132185 11754007 NM_032738 594 Immunoglobulin like domain containing CCDS30926, CCDS53415, CCDS53416, CCDS53417, CCDS53418, CCDS53419, CCDS53420 OTTHUMG00000034537 606891 NM_001184866 Q7L513 ENSG00000132185 uc001gbd.4 A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84824 false 1363FCRLB 127943 __UNKNOWN__ hg19 1 161697451 161697451 + Nonstop_Mutation SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:161697451G>C ENST00000367948.2 + 8 1495 c.1280G>C c.(1279-1281)tGa>tCa p.*427S FCRLB_ENST00000336830.5_3'UTR|FCRLB_ENST00000367944.3_3'UTR|FCRLB_ENST00000367946.3_3'UTR|FCRLB_ENST00000367945.1_3'UTR|FCRLB_ENST00000392158.1_Nonstop_Mutation_p.*427S|FCRLB_ENST00000495397.1_Intron Q6BAA4 FCRLB_HUMAN Fc receptor like B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of immune response (GO:0050777) cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGAGAGCTGAGGGGGCGGC 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF064728 HGNC:26431 Approved gene with protein product protein-coding gene FCRLM2 "Fc receptor-like and mucin-like 2", "Fc receptor-like B" FLJ31052, FCRL2, FREB-2, FCRLY 1q23.3 2016-01-21 2006-09-26 2016-01-21 AY670683 ENSG00000162746 15676285 NM_152378 594 Immunoglobulin like domain containing CCDS30927, CCDS72962, CCDS72963, CCDS72964, CCDS72965 OTTHUMG00000133629 609251 NM_001002901 Q6BAA4 ENSG00000162746 uc001gbh.4 A2A3J5|A2A3J7|Q5VXA6|Q6BAA0|Q6BAA1|Q6BAA2|Q6BAA3|Q8IXZ7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127943 false 1364MGST3 4259 __UNKNOWN__ hg19 1 165619079 165619079 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:165619079C>T ENST00000367889.3 + 2 MGST3_ENST00000367884.2_DE_NOVO_START_OUT_FRAME|MGST3_ENST00000367888.4_DE_NOVO_START_OUT_FRAME|MGST3_ENST00000367883.1_Splice_Site_p.R13C|MGST3_ENST00000367885.1_Splice_Site_p.R13C|MGST3_ENST00000367886.2_Splice_Site_p.R13C NM_004528.3 NP_004519.1 O14880 MGST3_HUMAN microsomal glutathione S-transferase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ glutathione derivative biosynthetic process (GO:1901687)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear envelope (GO:0005635) glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|peroxidase activity (GO:0004601) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Glutathione(DB00143) CTTCCACAGACGCAAGATGGC 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ185045 HGNC:7064 Approved gene with protein product protein-coding gene GST-III "microsomal glutathione S-transferase III", "microsomal GST-3", "microsomal GST-III" 1q24.1 2016-10-05 AF026977 2.5.1.18 ENSG00000143198 9278457 NM_004528 1469 Microsomal glutathione S-transferases CCDS1249 OTTHUMG00000034627 604564 NM_004528 O14880 ENSG00000143198 uc001gdf.4 B2R592|Q6ICN4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4259 false 1365ALDH9A1 223 __UNKNOWN__ hg19 1 165667795 165667795 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:165667795T>G ENST00000354775.4 - 1 306 c.1A>C c.(1-3)Atg>Ctg p.M1L ALDH9A1_ENST00000538148.1_5'Flank|RP11-466F5.6_ENST00000400982.2_5'Flank|ALDH9A1_ENST00000461664.1_5'Flank NM_000696.3 NP_000687.3 P49189 AL9A1_HUMAN aldehyde dehydrogenase 9 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739) 1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGAGAAACATGAGTGGCGGA 0.6957605985037406 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(179;1583 2014 18106 33801 42447) X75425 HGNC:412 Approved gene with protein product protein-coding gene ALDH7, ALDH4, ALDH9 "aldehyde dehydrogenase 9 family, member A1" E3 1q24.1 2015-11-18 2015-11-18 U34252 ENSG00000143149 8112751, 8786138 398 Aldehyde dehydrogenases CCDS1250 OTTHUMG00000034677 602733 NM_000696 P49189 ENSG00000143149 uc001gdh.2 B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 223 false 1366FMO2 2327 __UNKNOWN__ hg19 1 171154418 171154418 + DE_NOVO_START_OUT_FRAME SNP C C T 28369797 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171154418C>T ENST00000209929.7 + 1 FMO2_ENST00000441535.1_DE_NOVO_START_OUT_FRAME|FMO2_ENST00000529935.1_5'Flank P31512 FMO4_HUMAN flavin containing monooxygenase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ drug catabolic process (GO:0042737) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTAAAAACGCTTCCAACT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y09267 HGNC:3770 Approved gene with protein product protein-coding gene "flavin containing monooxygenase 2 (non-functional)" 1q24.3 2016-04-25 2015-11-04 BC005894 ENSG00000094963 1417778, 9804831 NM_001460 CCDS1293 OTTHUMG00000035504 603955 NM_001301347 Q99518 ENSG00000094963 uc057ngi.1 Q53XR0 true false 0.9882,.,0.01178 false false 1 false true false FMO2:2327 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.993028,.,0.00697163 true false true SNV 0x050110400005150537000100 1 false 125 rs28369797 2327 171154418 true 1367FMO2 2327 __UNKNOWN__ hg19 1 171178090 171178090 + Nonstop_Mutation SNP T T C 6661174 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171178090T>C ENST00000209929.7 + 9 1572 c.1414T>C c.(1414-1416)Tag>Cag p.*472Q FMO2_ENST00000441535.1_Nonstop_Mutation_p.*472Q|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron P31512 FMO4_HUMAN flavin containing monooxygenase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ drug catabolic process (GO:0042737) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACTCCTATTAGTATCGCCT 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y09267 HGNC:3770 Approved gene with protein product protein-coding gene "flavin containing monooxygenase 2 (non-functional)" 1q24.3 2016-04-25 2015-11-04 BC005894 ENSG00000094963 1417778, 9804831 NM_001460 CCDS1293 OTTHUMG00000035504 603955 NM_001301347 Q99518 ENSG00000094963 uc057ngi.1 Q53XR0 true false 0.9537,0.04633 false false 1 false true false FMO2:2327 true true false true true false false false false false false false true false false true true false false true false false 0 true 0 false false true false SNV 0x05012880060515053f000100 1 false 116 rs6661174 2327 171178090 true 1368FMO2 2327 __UNKNOWN__ hg19 1 171178090 171178090 + Nonstop_Mutation SNP T T C 6661174 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:171178090T>C ENST00000209929.7 + 9 1572 c.1414T>C c.(1414-1416)Tag>Cag p.*472Q FMO2_ENST00000441535.1_Nonstop_Mutation_p.*472Q|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_Intron P31512 FMO4_HUMAN flavin containing monooxygenase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ drug catabolic process (GO:0042737) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACTCCTATTAGTATCGCCT 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y09267 HGNC:3770 Approved gene with protein product protein-coding gene "flavin containing monooxygenase 2 (non-functional)" 1q24.3 2016-04-25 2015-11-04 BC005894 ENSG00000094963 1417778, 9804831 NM_001460 CCDS1293 OTTHUMG00000035504 603955 NM_001301347 Q99518 ENSG00000094963 uc057ngi.1 Q53XR0 true false 0.9537,0.04633 false false 1 false true false FMO2:2327 true true false true true false false false false false false false true false false true true false false true false false 0 true 0 false false true false SNV 0x05012880060515053f000100 1 false 116 rs6661174 2327 171178090 true 1369TNN 63923 __UNKNOWN__ hg19 1 175046557 175046557 + START_CODON_SNP SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:175046557G>T ENST00000239462.4 + 2 116 c.3G>T c.(1-3)atG>atT p.M1I NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160) cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578) biliary_tract(2)|breast(33)|central_nervous_system(44)|large_intestine(35)|lung(4)|oesophagus(1)|pancreas(22) 141 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCAAGGATGAGTCTCCAGG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z99715 HGNC:22942 Approved gene with protein product protein-coding gene 1q25.1 2016-10-05 AK127044 ENSG00000120332 XM_040527 555|554 Fibronectin type III domain containing|Fibrinogen C domain containing CCDS30943 OTTHUMG00000034882 617472 NM_022093 Q9UQP3 ENSG00000120332 uc001gkl.1 B9EGP3|Q5R360 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63923 false 1370TNN 63923 __UNKNOWN__ hg19 1 175116207 175116207 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:175116207A>G ENST00000239462.4 + 19 4013 c.3900A>G c.(3898-3900)tgA>tgG p.*1300W NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160) cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578) biliary_tract(2)|breast(33)|central_nervous_system(44)|large_intestine(35)|lung(4)|oesophagus(1)|pancreas(22) 141 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAACGTTCTGATGGCCCGTGT 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z99715 HGNC:22942 Approved gene with protein product protein-coding gene 1q25.1 2016-10-05 AK127044 ENSG00000120332 XM_040527 555|554 Fibronectin type III domain containing|Fibrinogen C domain containing CCDS30943 OTTHUMG00000034882 617472 NM_022093 Q9UQP3 ENSG00000120332 uc001gkl.1 B9EGP3|Q5R360 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 63923 false 1371ZNF648 127665 __UNKNOWN__ hg19 1 182027144 182027144 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:182027144A>T ENST00000339948.3 - 2 210 c.2T>A c.(1-3)aTg>aAg p.M1K NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTGTGCCATGATGTTCAG 0.513715710723192 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(71;908 1374 5429 20458 35642) BC137224 HGNC:18190 Approved gene with protein product protein-coding gene FLJ46813 1q25.3 2015-09-10 AK128654 ENSG00000179930 XM_060597 28 Zinc fingers C2H2-type CCDS30952 OTTHUMG00000037302 NM_001009992 Q5T619 ENSG00000179930 uc001goz.3 B2RP16 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127665 false 1372RNASEL 6041 __UNKNOWN__ hg19 1 182555939 182555939 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:182555939C>T ENST00000367559.3 - 2 257 c.3G>A c.(1-3)atG>atA p.M1I RNASEL_ENST00000444138.1_START_CODON_SNP_p.M1I|RNASEL_ENST00000539397.1_START_CODON_SNP_p.M1I NM_021133.3 NP_066956.1 Q05823 RN5A_HUMAN ribonuclease L __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|mRNA processing (GO:0006397)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|rRNA processing (GO:0006364)|type I interferon signaling pathway (GO:0060337) cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363) ATP binding (GO:0005524)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|RNA binding (GO:0003723)|rRNA binding (GO:0019843) biliary_tract(2)|breast(27)|central_nervous_system(60)|haematopoietic_and_lymphoid_tissue(54)|kidney(46)|large_intestine(71)|lung(52)|ovary(52)|pancreas(22)|stomach(175)|testis(13) 574 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTGCTCTCCATGACGGTAA 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L10381 HGNC:10050 Approved gene with protein product protein-coding gene RNS4, PRCA1 "prostate cancer 1", "ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)" 1q25.3 2016-10-05 2016-01-25 L10381 3.1.26.- ENSG00000135828 7514564 NM_021133 403 Ankyrin repeat domain containing CCDS1347 OTTHUMG00000035213 180435 NM_021133 Q05823 ENSG00000135828 uc009wxz.3 Q5W0L2|Q6AI46 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6041 false 1373CFH 3075 __UNKNOWN__ hg19 1 196670459 196670459 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:196670459T>C ENST00000359637.2 + 9 1218 c.1156T>C c.(1156-1158)Tga>Cga p.*386R CFH_ENST00000367429.4_Intron|CFH_ENST00000439155.2_Nonstop_Mutation_p.*450R P08603 CFAH_HUMAN complement factor H __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201) biliary_tract(2)|breast(186)|central_nervous_system(44)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTACCCTCTGAACTTCTGA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL049744 HGNC:4883 Approved gene with protein product protein-coding gene HF, HF1, HF2 "H factor 1 (complement)" HUS, FHL1, ARMS1, ARMD4 "beta-1H", "H factor 2 (complement)", "age-related maculopathy susceptibility 1" 1q31.3 2017-03-24 2004-08-12 2004-08-09 Y00716 ENSG00000000971 2889480, 2963625 NM_000186 1179|492 Sushi domain containing|Complement system CCDS1385, CCDS53452 OTTHUMG00000035607 134370 NM_000186 P08603 ENSG00000000971 uc001gtj.4 A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3075 false 1374ASPM 259266 __UNKNOWN__ hg19 1 197057491 197057492 + Frame_Shift_Ins INS - - CC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:197057491_197057492insCC ENST00000367409.4 - 26 10313 c.10055_10056insGG c.(10054-10056)atafs p.I3352fs ASPM_ENST00000367408.1_Frame_Shift_Ins_p.I1017fs|ASPM_ENST00000294732.7_Frame_Shift_Ins_p.I1767fs NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN abnormal spindle microtubule assembly __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283) cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922) biliary_tract(2)|breast(14)|central_nervous_system(44)|genital_tract(91)|kidney(92)|large_intestine(11)|lung(2)|pancreas(22)|testis(65)|upper_aerodigestive_tract(1) 344 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTCGGTATATCTGCAAAA 0.3175 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471067 HGNC:19048 Approved gene with protein product protein-coding gene MCPH5 "microcephaly, primary autosomal recessive 5", "asp (abnormal spindle)-like, microcephaly associated (Drosophila)", "asp (abnormal spindle) homolog, microcephaly associated (Drosophila)" Calmbp1, ASP, FLJ10517, FLJ10549 1q31.3 2016-10-05 2015-08-14 AY367065 ENSG00000066279 11078481 NM_018136 CCDS1389, CCDS55672 OTTHUMG00000036277 605481 NM_001206846 Q8IZT6 ENSG00000066279 uc001gtu.4 Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 259266 false 1375CR1 1378 __UNKNOWN__ hg19 1 207700162 207700163 + Frame_Shift_Ins INS - - AGAT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:207700162_207700163insAGAT ENST00000367049.4 + 6 951 c.951_952insAGAT c.(952-954)cctfs p.P318fs CR1_ENST00000367052.1_Frame_Shift_Ins_p.P318fs|CR1_ENST00000367053.1_Frame_Shift_Ins_p.P318fs|CR1_ENST00000400960.2_Frame_Shift_Ins_p.P318fs|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_Intron NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement C3b/C4b receptor 1 (Knops blood group) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449) cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACTTTTCACCTGGGCAGG 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M31241 HGNC:2334 Approved gene with protein product protein-coding gene "complement component (3b/4b) receptor 1, including Knops blood group system", "complement component (3b/4b) receptor 1 (Knops blood group)", "complement component 3b/4b receptor 1 (Knops blood group)" CD35, KN 1q32.2 2017-03-24 2016-08-10 Y00816 ENSG00000203710 1708809 NM_000573 1179|492|471|454 Sushi domain containing|Complement system|CD molecules|Blood group antigens CCDS44308, CCDS44309 OTTHUMG00000036311 120620 NM_000573 P17927 ENSG00000203710 uc001hfx.4 Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1378 false 1376G0S2 50486 __UNKNOWN__ hg19 1 209849340 209849340 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209849340A>G ENST00000367029.4 + 2 473 c.311A>G c.(310-312)tAg>tGg p.*104W RP1-28O10.1_ENST00000441672.1_RNA|RP1-28O10.1_ENST00000445272.1_5'Flank NM_015714.3 NP_056529.1 P27469 G0S2_HUMAN G0/G1 switch 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular lipid metabolic process (GO:0044255)|extrinsic apoptotic signaling pathway (GO:0097191)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|small molecule metabolic process (GO:0044281) lipid particle (GO:0005811)|mitochondrion (GO:0005739) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACGCCTCCTAGGAACTGTGG 0.6309226932668329 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M72885 HGNC:30229 Approved gene with protein product protein-coding gene "G0/G1switch 2" "putative lymphocyte G0/G1 switch gene" 1q32.2 2014-11-18 2014-04-22 ENSG00000123689 1930693, 10645953 NM_015714 CCDS1488 OTTHUMG00000036479 614447 NM_015714 P27469 ENSG00000123689 uc001hhi.5 Q6FGC8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 50486 false 1377TRAF3IP3 80342 __UNKNOWN__ hg19 1 209932121 209932121 + DE_NOVO_START_OUT_FRAME SNP C C T 10489341 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:209932121C>T ENST00000367024.1 + 1 TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000010338.4_5'Flank Q9Y228 T3JAM_HUMAN TRAF3 interacting protein 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(49)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22) 247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATTTCCAACGCTCAGGATC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471100 HGNC:30766 Approved gene with protein product protein-coding gene T3JAM "TRAF3 interacting Jun N terminal kinase (JNK) activating modulator" 1q32.2 2016-10-05 ENSG00000009790 14572659 CCDS1490, CCDS73023, CCDS81422 OTTHUMG00000036480 608255 NM_001287754 Q9Y228 ENSG00000009790 uc001hho.5 A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706 true false 0.8838,0.1162 false false 1 false true false TRAF3IP3:80342 true true true true true false false false false false false false false false false true true false false false false false 0 true 0 false 0.849876,0.150124 false false true SNV 0x05012848000515053f000100 1 false 119 rs10489341 80342 209932121 true 1378SPATA17 128153 __UNKNOWN__ hg19 1 217804722 217804722 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:217804722T>C ENST00000366933.4 + 1 57 c.2T>C c.(1-3)aTg>aCg p.M1T GPATCH2_ENST00000366934.3_5'Flank|GPATCH2_ENST00000366935.3_5'Flank NM_138796.2 NP_620151.1 Q96L03 SPT17_HUMAN spermatogenesis associated 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAGAGACCATGGCCACGTTA 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471100 HGNC:25184 Approved gene with protein product protein-coding gene IQCH "IQ motif containing H" 1q41 2014-11-19 AK098591 ENSG00000162814 16395525 NM_138796 CCDS1519 OTTHUMG00000037875 611032 NM_138796 Q96L03 ENSG00000162814 uc001hlh.2 A5D6N2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 128153 false 1379DNAH14 127602 __UNKNOWN__ hg19 1 225586971 225586971 + Nonstop_Mutation SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:225586971A>T ENST00000445597.2 + 61 10524 c.10524A>T c.(10522-10524)taA>taT p.*3508Y DNAH14_ENST00000439375.2_Nonstop_Mutation_p.*4516Y|DNAH14_ENST00000430092.1_Nonstop_Mutation_p.*4516Y Q0VDD8 DYH14_HUMAN dynein axonemal heavy chain 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ microtubule-based movement (GO:0007018) cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874) ATP binding (GO:0005524)|microtubule motor activity (GO:0003777) central_nervous_system(23) 23 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGAAAAATAAATGTCCATAT 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471098 HGNC:2945 Approved gene with protein product protein-coding gene C1orf67 "dynein, axonemal, heavy polypeptide 14", "chromosome 1 open reading frame 67" Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277 1q42.12 2016-10-05 2016-03-02 U61741 ENSG00000185842 8812413 XM_059166 536 Dyneins, axonemal CCDS41472, CCDS44322 OTTHUMG00000037447 603341 NM_001145154 Q0VDD8 ENSG00000185842 uc001how.3 A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127602 false 1380MRPL55 128308 __UNKNOWN__ hg19 1 228295961 228295961 + START_CODON_SNP SNP T T G 140581823 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:228295961T>G ENST00000411464.2 - 3 795 c.1A>C c.(1-3)Atg>Ctg p.M1L MRPL55_ENST00000366735.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366734.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366733.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336520.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366744.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000336300.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000348259.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000366736.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366740.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366739.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000295008.4_START_CODON_SNP_p.M1L|MRPL55_ENST00000366742.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366741.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366747.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366746.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366732.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000366738.1_START_CODON_SNP_p.M1L|MRPL55_ENST00000391867.3_START_CODON_SNP_p.M1L|MRPL55_ENST00000366731.5_START_CODON_SNP_p.M1L|MRPL55_ENST00000430433.1_START_CODON_SNP_p.M1L|C1orf35_ENST00000272139.4_5'Flank|MRPL55_ENST00000465397.1_Intron|C1orf35_ENST00000472617.1_5'Flank Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ translation (GO:0006412) mitochondrial large ribosomal subunit (GO:0005762) structural constituent of ribosome (GO:0003735) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGGCCGCCATTCCTCCTTAC 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC052806 HGNC:16686 Approved gene with protein product protein-coding gene 1q42.13 2015-08-25 AK056987 ENSG00000162910 XM_059233 646 Mitochondrial ribosomal proteins CCDS1567, CCDS44325 OTTHUMG00000037965 611859 NM_001321284 Q7Z7F7 ENSG00000162910 uc001hsa.5 Q5TBY3|Q5TBY6|Q6UWI8 true false false false false false false MRPL55:128308 false true false false false false false false false false false true false false false false false false false true false false 0 false 0 false false false false SNV 0x050000000a05040402000100 1 false 134 rs140581823 128308 228295961 true 1381MRPL55 128308 __UNKNOWN__ hg19 1 228296020 228296020 + DE_NOVO_START_IN_FRAME SNP C C A 868542799 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:228296020C>A ENST00000366735.1 - 1 MRPL55_ENST00000366734.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366740.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366742.1_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000411464.2_Splice_Site|MRPL55_ENST00000366733.1_Splice_Site|MRPL55_ENST00000336520.3_Splice_Site|MRPL55_ENST00000366744.1_Splice_Site|MRPL55_ENST00000336300.5_Splice_Site|MRPL55_ENST00000348259.5_Splice_Site|MRPL55_ENST00000366736.1_Splice_Site|MRPL55_ENST00000366739.1_Splice_Site|MRPL55_ENST00000295008.4_Splice_Site|MRPL55_ENST00000366741.1_Splice_Site|MRPL55_ENST00000366747.3_Splice_Site|MRPL55_ENST00000366746.3_Splice_Site|MRPL55_ENST00000366732.1_Splice_Site|MRPL55_ENST00000366738.1_Splice_Site|MRPL55_ENST00000391867.3_DE_NOVO_START_IN_FRAME|MRPL55_ENST00000366731.5_Splice_Site|MRPL55_ENST00000430433.1_Splice_Site|C1orf35_ENST00000272139.4_5'Flank|MRPL55_ENST00000465397.1_Splice_Site|C1orf35_ENST00000472617.1_5'Flank Q7Z7F7 RM55_HUMAN mitochondrial ribosomal protein L55 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ translation (GO:0006412) mitochondrial large ribosomal subunit (GO:0005762) structural constituent of ribosome (GO:0003735) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGTGCAACCTGCTAGGCAG 0.5286783042394015 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC052806 HGNC:16686 Approved gene with protein product protein-coding gene 1q42.13 2015-08-25 AK056987 ENSG00000162910 XM_059233 646 Mitochondrial ribosomal proteins CCDS1567, CCDS44325 OTTHUMG00000037965 611859 NM_001321284 Q7Z7F7 ENSG00000162910 uc001hsa.5 Q5TBY3|Q5TBY6|Q6UWI8 true true false false false false false MRPL55:128308 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false 0.999931,6.86908e-005 false false true SNV 0x050000600005000402000100 1 false 147 rs868542799 128308 228296020 false 1382C1orf198 84886 __UNKNOWN__ hg19 1 230979415 230979415 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:230979415C>A ENST00000427697.2 - 3 C1orf198_ENST00000366663.5_Missense_Mutation_p.E204D|C1orf198_ENST00000470540.1_Missense_Mutation_p.E166D|C1orf198_ENST00000523410.1_Missense_Mutation_p.E74D Q9H425 CA198_HUMAN chromosome 1 open reading frame 198 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAACTCGGCCTCAGGCCCCT 0.6458852867830424 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL118511 HGNC:25900 Approved gene with protein product protein-coding gene FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847 1q42.2 2017-08-01 BC066649 ENSG00000119280 NM_032800 CCDS1587, CCDS44330, CCDS44331 OTTHUMG00000037790 NM_001136494 Q9H425 ENSG00000119280 uc001hub.4 A8K8R8|B3KTW1|G5EA08 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84886 false 1383SIPA1L2 57568 __UNKNOWN__ hg19 1 232651063 232651064 + Frame_Shift_Ins INS - - AGAA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:232651063_232651064insAGAA ENST00000366630.1 - 2 382 c.22_23insTTCT c.(22-24)caafs p.Q8fs SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.Q8fs Q9P2F8 SI1L2_HUMAN signal induced proliferation associated 1 like 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of small GTPase mediated signal transduction (GO:0051056) GTPase activator activity (GO:0005096) biliary_tract(2)|breast(11)|central_nervous_system(45)|large_intestine(11)|lung(1)|oesophagus(7)|pancreas(22)|upper_aerodigestive_tract(2) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCTCTTCTTGTGACTGCCT 0.4425 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471098 HGNC:23800 Approved gene with protein product protein-coding gene "signal-induced proliferation-associated 1 like 2" KIAA1389 1q42.2 2016-04-05 2016-04-05 AB037810 ENSG00000116991 XM_045839 1220 PDZ domain containing CCDS41474 OTTHUMG00000037820 611609 NM_020808 Q9P2F8 ENSG00000116991 uc001hvg.4 Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57568 false 1384MAP10 54627 __UNKNOWN__ hg19 1 232940993 232940994 + Frame_Shift_Ins INS - - CAAAGCAG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:232940993_232940994insCAAAGCAG ENST00000418460.1 + 1 351 c.224_225insCAAAGCAG c.(223-225)gctfs p.H76fs NM_019090.2 NP_061963.2 Q9P2G4 MAP10_HUMAN microtubule associated protein 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256) centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431) microtubule binding (GO:0008017) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAAAACGGCTCACAAGTAT 0.4925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC109122 HGNC:29265 Approved gene with protein product protein-coding gene KIAA1383 "KIAA1383" MTR120 "microtubule regulator 120 KDa" 1q42.2 2015-11-16 2013-02-12 2015-11-16 AB037804 ENSG00000212916 23264731 NM_019090 CCDS44334 OTTHUMG00000037819 NM_019090 Q9P2G4 ENSG00000212916 uc001hvh.3 A8K2F1|Q32MI1|Q58EZ9|Q5VV83 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54627 false 1385RBM34 23029 __UNKNOWN__ hg19 1 235295173 235295174 + Frame_Shift_Ins INS - - TA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:235295173_235295174insTA ENST00000408888.3 - 11 1379 c.1147_1148insTA c.(1147-1149)cctfs p.P383fs RBM34_ENST00000366606.3_Frame_Shift_Ins_p.P378fs|TOMM20_ENST00000366607.4_5'Flank|RBM34_ENST00000495224.1_Intron|SNORA14B_ENST00000384452.1_5'Flank P42696 RBM34_HUMAN RNA binding motif protein 34 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleolus (GO:0005730)|nucleus (GO:0005634) nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|central_nervous_system(22)|pancreas(22) 46 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCTGCTTAGGTTTACTGAC 0.3475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D38491 HGNC:28965 Approved gene with protein product protein-coding gene KIAA0117 1q42.3 2016-04-25 ENSG00000188739 7788527, 15134903 NM_015014 725 RNA binding motif containing CCDS41477 OTTHUMG00000039620 NM_015014 P42696 ENSG00000188739 uc001hwn.3 A8K8J7|Q8N2Z8|Q9H5A1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23029 false 1386KMO 8564 __UNKNOWN__ hg19 1 241755453 241755453 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:241755453T>C ENST00000366559.4 + 15 1770 c.1459T>C c.(1459-1461)Tga>Cga p.*487R KMO_ENST00000366557.4_Nonstop_Mutation_p.*453R|KMO_ENST00000366558.3_Nonstop_Mutation_p.*474R NM_003679.4 NP_003670.2 kynurenine 3-monooxygenase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(289)|large_intestine(11)|pancreas(22) 379 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTAGCAGGTGATAGAAAGG 0.39650872817955113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y13153 HGNC:6381 Approved gene with protein product protein-coding gene "kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)" "kynurenine 3-hydroxylase" 1q43 2016-10-05 2016-06-03 AF056032 1.14.13.9 ENSG00000117009 9237672 NM_003679 CCDS1618 OTTHUMG00000039635 603538 NM_003679 O15229 ENSG00000117009 uc009xgp.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8564 false 1387WDR64 128025 __UNKNOWN__ hg19 1 241964517 241964517 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:241964517A>C ENST00000366552.2 + 27 3453 c.3246A>C c.(3244-3246)taA>taC p.*1082Y WDR64_ENST00000437684.2_Nonstop_Mutation_p.*915Y NM_144625.4 NP_653226.4 B1ANS9 WDR64_HUMAN WD repeat domain 64 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACCCAAGTAAGGAGAAAAAA 0.4014962593516209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX322532 HGNC:26570 Approved gene with protein product protein-coding gene FLJ32978 1q43 2014-11-18 AK057540 ENSG00000162843 NM_144625 362 WD repeat domain containing OTTHUMG00000039705 NM_144625 B1ANS9 ENSG00000162843 uc001hzg.3 B1ANT0|Q7Z573|Q96LY9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 128025 false 1388TRIM58 25893 __UNKNOWN__ hg19 1 248039789 248039789 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:248039789T>C ENST00000366481.3 + 6 1507 c.1459T>C c.(1459-1461)Taa>Caa p.*487Q OR2W3_ENST00000537741.1_Intron NM_015431.3 NP_056246.3 Q8NG06 TRI58_HUMAN tripartite motif containing 58 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular (GO:0005622) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22)|upper_aerodigestive_tract(1) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGATCATCTCTAAAATTCTGT 0.39650872817955113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC074748 HGNC:24150 Approved gene with protein product protein-coding gene "tripartite motif-containing 58" BIA2 1q44 2015-08-26 2011-01-25 AF327057 ENSG00000162722 NM_015431 59|58 Tripartite motif containing|Ring finger proteins CCDS1636 OTTHUMG00000040203 NM_015431 Q8NG06 ENSG00000162722 uc001ido.4 Q6B0H9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 25893 false 1389OR2M3 127062 __UNKNOWN__ hg19 1 248366370 248366370 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:248366370A>G ENST00000456743.1 + 1 39 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor family 2 subfamily M member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(171)|lung(2)|pancreas(22) 230 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATACACATCATGGCAAGGGA 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471148 HGNC:8269 Approved gene with protein product protein-coding gene OR2M6, OR2M3P "olfactory receptor, family 2, subfamily M, member 3" OST003 1q44 2015-12-09 2004-03-10 2015-12-09 ENSG00000228198 NM_001004689 149 Olfactory receptors, family 2 CCDS31107 OTTHUMG00000040459 NM_001004689 Q8NG83 ENSG00000228198 uc010pzg.2 B9EH06|Q6IEY0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127062 false 1390OR2M3 127062 __UNKNOWN__ hg19 1 248367306 248367306 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:248367306T>A ENST00000456743.1 + 1 975 c.937T>A c.(937-939)Tga>Aga p.*313R NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor family 2 subfamily M member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(171)|lung(2)|pancreas(22) 230 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCTGGAGAGTGAGTTACCTA 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471148 HGNC:8269 Approved gene with protein product protein-coding gene OR2M6, OR2M3P "olfactory receptor, family 2, subfamily M, member 3" OST003 1q44 2015-12-09 2004-03-10 2015-12-09 ENSG00000228198 NM_001004689 149 Olfactory receptors, family 2 CCDS31107 OTTHUMG00000040459 NM_001004689 Q8NG83 ENSG00000228198 uc010pzg.2 B9EH06|Q6IEY0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 127062 false 1391OR2T35 403244 __UNKNOWN__ hg19 1 248801588 248801588 + Splice_Site SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr1:248801588C>T ENST00000317450.3 - 1 972 c.972G>A c.(970-972)taG>taA p.*324* NM_001001827.1 NP_001001827.1 Q8NGX2 O2T35_HUMAN olfactory receptor family 2 subfamily T member 35 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|central_nervous_system(22)|pancreas(22) 46 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAGTCCCTGCTAGCCCTTCC 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BK004475 HGNC:31257 Approved gene with protein product protein-coding gene "olfactory receptor, family 2, subfamily T, member 35" 1q44 2015-12-09 2015-12-09 BK004475 ENSG00000177151 NM_001001827 149 Olfactory receptors, family 2 CCDS31123 OTTHUMG00000040380 NM_001001827 Q8NGX2 ENSG00000177151 uc001ies.1 Q6IEY7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 403244 false 1392AKR1C3 8644 __UNKNOWN__ hg19 10 5144336 5144337 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:5144336_5144337insA ENST00000380554.3 + 6 1266 c.614_615insA c.(613-615)ttcfs p.F205fs AKR1C3_ENST00000605149.1_Frame_Shift_Ins_p.F182fs|AKR1C3_ENST00000439082.2_Frame_Shift_Ins_p.F86fs NM_003739.5 NP_003730.4 P42330 AK1C3_HUMAN aldo-keto reductase family 1 member C3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|cellular response to cadmium ion (GO:0071276)|cellular response to calcium ion (GO:0071277)|cellular response to corticosteroid stimulus (GO:0071384)|cellular response to jasmonic acid stimulus (GO:0071395)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to reactive oxygen species (GO:0034614)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|daunorubicin metabolic process (GO:0044597)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|G-protein coupled receptor signaling pathway (GO:0007186)|keratinocyte differentiation (GO:0030216)|male gonad development (GO:0008584)|multicellular organismal macromolecule metabolic process (GO:0044259)|negative regulation of retinoic acid biosynthetic process (GO:1900053)|oxidation-reduction process (GO:0055114)|phototransduction, visible light (GO:0007603)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|progesterone metabolic process (GO:0042448)|prostaglandin metabolic process (GO:0006693)|protein import into nucleus, translocation (GO:0000060)|regulation of retinoic acid receptor signaling pathway (GO:0048385)|regulation of testosterone biosynthetic process (GO:2000224)|renal absorption (GO:0070293)|response to nutrient (GO:0007584)|response to prostaglandin (GO:0034694)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370) cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634) 15-hydroxyprostaglandin-D dehydrogenase (NADP+) activity (GO:0047020)|alditol:NADP+ 1-oxidoreductase activity (GO:0004032)|aldo-keto reductase (NADP) activity (GO:0004033)|androsterone dehydrogenase activity (GO:0047023)|delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|dihydrotestosterone 17-beta-dehydrogenase activity (GO:0035410)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|ketoreductase activity (GO:0045703)|ketosteroid monooxygenase activity (GO:0047086)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|phenanthrene 9,10-monooxygenase activity (GO:0018636)|prostaglandin D2 11-ketoreductase activity (GO:0036131)|prostaglandin F receptor activity (GO:0004958)|prostaglandin-F synthase activity (GO:0047017)|retinal dehydrogenase activity (GO:0001758)|retinol dehydrogenase activity (GO:0004745)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)|testosterone dehydrogenase (NAD+) activity (GO:0047035)|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity (GO:0047115) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(171)|pancreas(22) 250 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Bimatoprost(DB00905)|Doxorubicin(DB00997) TGCTAGATTTCTGCAAGTCG 0.34 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ S68288 HGNC:386 Approved gene with protein product protein-coding gene HSD17B5 "hydroxysteroid (17-beta) dehydrogenase 5", "aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)" KIAA0119, DDX, HAKRB, PGFS "dihydrodiol dehydrogenase X", "prostaglandin F synthase", "3-alpha hydroxysteroid dehydrogenase, type II" 10p15.1 2016-10-05 2016-06-03 L43839 1.1.1.213, 1.1.1.188 ENSG00000196139 7650035, 9792917 NM_003739 399 Aldo-keto reductases CCDS7063, CCDS73062 OTTHUMG00000017585 603966 NM_001253908 P42330 ENSG00000196139 uc001ihu.4 A8K2V0|B4DL37|Q5T2L1|Q96DJ1|Q96KI8|Q99530|Q9UCX1|Q9UII3|Q9UKL9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8644 false 1393AKR1CL1 __UNKNOWN__ hg19 10 5204954 5204955 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:5204954_5204955insA ENST00000334314.3 - 2 200 c.122_123insT c.(121-123)accfs p.K42fs AKR1CL1_ENST00000465430.1_5'Flank Q5T2L2 AKCL1_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737) oxidoreductase activity (GO:0016491) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCCACTTTGGTGGCCTCGG 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(129;1623 1737 25446 28757 47467) BC101205 A6NF66|Q6ZN81 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1394CDNF 441549 __UNKNOWN__ hg19 10 14867578 14867578 + DE_NOVO_START_IN_FRAME SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:14867578G>C ENST00000378442.1 - 5 CDNF_ENST00000378441.2_Intron Q49AH0 CDNF_HUMAN cerebral dopamine neurotrophic factor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCACTTAGGATCTTTGTGG 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471072 HGNC:24913 Approved gene with protein product protein-coding gene ARMETL1 "arginine-rich, mutated in early stage tumors-like 1" "conserved dopamine neurotrophic factor" 10p13 2015-09-11 2009-06-04 2009-06-04 BC037872 ENSG00000185267 17611540 NM_001029954 CCDS31148 OTTHUMG00000017713 611233 NM_001029954 Q49AH0 ENSG00000185267 uc001inb.3 A2RUU0|B4DVW3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 441549 false 1395CREM 1390 __UNKNOWN__ hg19 10 35426755 35426755 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:35426755A>G ENST00000345491.3 + 2 CREM_ENST00000374721.3_DE_NOVO_START_OUT_FRAME|CREM_ENST00000354759.3_DE_NOVO_START_OUT_FRAME|CREM_ENST00000429130.3_DE_NOVO_START_OUT_FRAME|CREM_ENST00000460270.1_Intron|CREM_ENST00000374726.3_Intron|CREM_ENST00000474362.1_Intron|CREM_ENST00000489321.1_Intron|CREM_ENST00000469949.2_Intron|CREM_ENST00000395895.2_DE_NOVO_START_OUT_FRAME|CREM_ENST00000333809.8_DE_NOVO_START_OUT_FRAME|CREM_ENST00000439705.1_DE_NOVO_START_OUT_FRAME|CREM_ENST00000374728.3_Intron|CREM_ENST00000337656.4_5'Flank|CREM_ENST00000374734.3_5'Flank|CREM_ENST00000479070.1_5'Flank|CREM_ENST00000489388.1_Intron NM_181571.2 NP_853549.1 Q03060 CREM_HUMAN cAMP responsive element modulator __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell differentiation (GO:0030154)|glycosphingolipid metabolic process (GO:0006687)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) cAMP response element binding protein binding (GO:0008140)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTACAAATATCTTAACAAT 0.26683291770573564 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z15159 HGNC:2352 Approved gene with protein product protein-coding gene hCREM-2 10p11.21 2016-10-05 ENSG00000095794 1461747, 7916662 NM_001881 506 Basic leucine zipper proteins CCDS7180, CCDS7181, CCDS7182, CCDS7183, CCDS7184, CCDS7185, CCDS7186, CCDS7187, CCDS7188, CCDS31181, CCDS53519, CCDS53520, CCDS53517, CCDS53518, CCDS53521, CCDS58074, CCDS58075, CCDS58076 OTTHUMG00000017953 123812 NM_001267562 Q03060 ENSG00000095794 uc001iyb.4 A8K014|A8K3J7|A8K6A1|A8MPQ2|B4DXC1|C9J785|C9JZ10|E9PAR4|E9PHM1|O75519|Q14501|Q14503|Q14504|Q14505|Q14506|Q15731|Q16114|Q16116|Q5T9H7|Q5W1A6|Q5W1A7|Q5W1A8|Q5W1A9|Q5W1B0|Q5W1B2|Q7Z2Q6|Q8IVD4|Q96AG7|Q9NZ98|Q9NZ99|Q9NZB9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1390 false 1396ZNF33A 7581 __UNKNOWN__ hg19 10 38344447 38344448 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:38344447_38344448insA ENST00000374618.3 + 5 1573 c.1395_1396insA c.(1396-1398)gagfs p.E466fs ZNF33A_ENST00000458705.2_Frame_Shift_Ins_p.E465fs|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000432900.2_Frame_Shift_Ins_p.E472fs|ZNF33A_ENST00000307441.9_Frame_Shift_Ins_p.E465fs NM_006974.2 NP_008905.1 Q06730 ZN33A_HUMAN zinc finger protein 33A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCACACAGGTGAGAAACCTT 0.4025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X68689 HGNC:13096 Approved gene with protein product protein-coding gene ZNF33, ZNF11A "zinc finger protein 33a (KOX 31)", "zinc finger protein 11A" KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK "zinc finger and ZAK associated protein with KRAB domain" 10p11.1 2016-10-05 2005-03-18 D31763 ENSG00000189180 2014798, 8464732 NM_006974 28 Zinc fingers C2H2-type CCDS31182, CCDS60514, CCDS73088, CCDS73089, CCDS44372 OTTHUMG00000017983 194521 NM_001278170 Q06730 ENSG00000189180 uc001izh.4 A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7581 false 1397PCDH15 65217 __UNKNOWN__ hg19 10 55955567 55955567 + DE_NOVO_START_OUT_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:55955567T>C ENST00000409834.1 - 3 PCDH15_ENST00000373965.2_Missense_Mutation_p.Y394C|PCDH15_ENST00000361849.3_Missense_Mutation_p.Y394C|PCDH15_ENST00000395433.1_Missense_Mutation_p.Y372C|PCDH15_ENST00000320301.6_Missense_Mutation_p.Y394C|PCDH15_ENST00000395430.1_Missense_Mutation_p.Y394C|PCDH15_ENST00000395438.1_Missense_Mutation_p.Y394C|PCDH15_ENST00000395445.1_Missense_Mutation_p.Y394C|PCDH15_ENST00000373955.1_Missense_Mutation_p.Y394C|PCDH15_ENST00000373957.3_Missense_Mutation_p.Y372C|PCDH15_ENST00000395446.1_Missense_Mutation_p.Y394C|PCDH15_ENST00000395440.1_Missense_Mutation_p.Y394C|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.Y399C|PCDH15_ENST00000395432.2_Missense_Mutation_p.Y357C|PCDH15_ENST00000437009.1_Missense_Mutation_p.Y394C Q96QU1 PCD15_HUMAN protocadherin related 15 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(185)|lung(101)|pancreas(112)|upper_aerodigestive_tract(120) 575 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTGTAAAATATGGACTTTG 0.34663341645885287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL603835 HGNC:14674 Approved gene with protein product protein-coding gene USH1F, DFNB23 "deafness, autosomal recessive 23", "protocadherin 15" CDHR15 "cadherin-related family member 15" 10q21.1 2016-06-08 2016-06-08 AY029205 ENSG00000150275 11398101, 14570705 NM_033056 1152|24 Deafness associated genes|Cadherin related CCDS7248, CCDS44400, CCDS44401, CCDS44403, CCDS44404, CCDS73134, CCDS73135, CCDS73136, CCDS73137, CCDS73138 OTTHUMG00000018259 605514 NM_001142763 Q96QU1 ENSG00000150275 uc057tid.1 A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 65217 false 1398DNA2 1763 __UNKNOWN__ hg19 10 70182529 70182530 + Frame_Shift_Ins INS - - AG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:70182529_70182530insAG ENST00000358410.3 - 15 2378 c.2326_2327insCT c.(2326-2328)cttfs p.L776fs DNA2_ENST00000399180.2_Frame_Shift_Ins_p.L862fs|DNA2_ENST00000399179.2_Intron NM_001080449.2 NP_001073918.2 P51530 DNA2_HUMAN DNA replication helicase/nuclease 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201) mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) 4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAAAAAAAAGGGGGCCCAG 0.3525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D42046 HGNC:2939 Approved gene with protein product protein-coding gene DNA2L "DNA2 DNA replication helicase 2-like (yeast)", "DNA replication helicase 2 homolog (yeast)" KIAA0083 10q21.3 2016-10-05 2008-01-08 2013-05-13 D42046 ENSG00000138346 8938459, 17032657, 23352259 1169 UPF1 like RNA helicases CCDS44415 OTTHUMG00000018352 601810 NM_001080449 P51530 ENSG00000138346 uc057tqx.1 Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1763 false 1399LIPA 3988 __UNKNOWN__ hg19 10 90988034 90988035 + Frame_Shift_Ins INS - - GG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:90988034_90988035insGG ENST00000336233.5 - 4 674 c.350_351insCC c.(349-351)atgfs p.M117fs LIPA_ENST00000456827.1_Frame_Shift_Ins_p.M117fs|LIPA_ENST00000371837.1_Frame_Shift_Ins_p.M61fs P38571 LICH_HUMAN lipase A, lysosomal acid type __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cytokine production (GO:0001816)|homeostasis of number of cells within a tissue (GO:0048873)|inflammatory response (GO:0006954)|lipid catabolic process (GO:0016042)|lung development (GO:0030324)|tissue remodeling (GO:0048771) extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764) lipase activity (GO:0016298)|sterol esterase activity (GO:0004771) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGTTGCCCATCCACACGT 0.4325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z31690 HGNC:6617 Approved gene with protein product protein-coding gene "lipase A, lysosomal acid, cholesterol esterase" LAL, CESD "Wolman disease", "lysosomal acid lipase", "sterol esterase" 10q23.31 2016-10-05 2016-02-12 M74775 3.1.1.13 ENSG00000107798 8432549 NM_000235 464 Lipases CCDS7401, CCDS73160 OTTHUMG00000018716 613497 NM_000235 P38571 ENSG00000107798 uc001kga.6 B2RBH5|D3DR29|Q16529|Q53H21|Q5T074|Q5T771|Q96EJ0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3988 false 1400MYOF 26509 __UNKNOWN__ hg19 10 95121241 95121242 + Frame_Shift_Ins INS - - GT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:95121241_95121242insGT ENST00000359263.4 - 28 2942 c.2941_2942insAC c.(2941-2943)tctfs p.S981fs MYOF_ENST00000358334.5_Frame_Shift_Ins_p.S968fs|MYOF_ENST00000371501.4_Frame_Shift_Ins_p.S981fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.S981fs NM_013451.3 NP_038479.1 Q9NZM1 MYOF_HUMAN myoferlin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947) caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886) phospholipid binding (GO:0005543) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTCATAAGACCATGCATC 0.47 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC052617 HGNC:3656 Approved gene with protein product protein-coding gene FER1L3 "fer-1 (C.elegans)-like 3 (myoferlin)", "fer-1-like 3, myoferlin (C. elegans)" KIAA1207 "fer-1-like family member 3" 10q23.33 2016-10-05 2008-11-26 2008-11-26 AB033033 ENSG00000138119 10607832, 10995573, 17702744 NM_013451 828 Ferlin family CCDS41550, CCDS41551 OTTHUMG00000018772 604603 NM_013451 Q9NZM1 ENSG00000138119 uc001kin.4 B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26509 false 1401PKD2L1 9033 __UNKNOWN__ hg19 10 102048159 102048160 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:102048159_102048160insA ENST00000318222.3 - 16 2795 c.2411_2412insT c.(2410-2412)aggfs p.R804fs PKD2L1_ENST00000338519.3_Frame_Shift_Ins_p.R729fs|PKD2L1_ENST00000353274.3_3'UTR|BLOC1S2_ENST00000370372.2_5'Flank|BLOC1S2_ENST00000441611.1_5'Flank|BLOC1S2_ENST00000361832.2_5'Flank NM_016112.2 NP_057196.2 Q9P0L9 PK2L1_HUMAN polycystin 2 like 1, transient receptor potential cation channel __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725) calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886) alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(12)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTAACTCCTCTGCAACG 0.465 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471066 HGNC:9011 Approved gene with protein product protein-coding gene PKD2L, PKDL "polycystic kidney disease 2-like 1" PCL, TRPP3 "transient receptor potential cation channel, subfamily P, member 3" 10q24.31 2016-01-28 2016-01-28 AF094827 ENSG00000107593 9878261, 9748274 NM_016112 249 Transient receptor potential cation channels CCDS7492 OTTHUMG00000018910 604532 NM_001253837 Q9P0L9 ENSG00000107593 uc001kqx.2 O75972|Q5W039|Q9UP35|Q9UPA2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9033 false 1402FAM178A __UNKNOWN__ hg19 10 102684419 102684420 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:102684419_102684420insT ENST00000238961.4 + 5 2203 c.1661_1662insT c.(1660-1662)aagfs p.K554fs FAM178A_ENST00000370269.3_Frame_Shift_Ins_p.K554fs|FAM178A_ENST00000370271.3_Frame_Shift_Ins_p.K554fs NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromatin (GO:0000785)|extracellular space (GO:0005615)|nucleus (GO:0005634) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCTACAAAGTCTCCCCCT 0.4225 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC030565 A8K950|B1AL17|Q5W0L8|Q6GMU6|Q9NPE8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1403EIF3A 8661 __UNKNOWN__ hg19 10 120795682 120795693 + In_Frame_Del DEL CTCGGTCTCTTG CTCGGTCTCTTG - 766037789 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:120795682_120795693delCTCGGTCTCTTG ENST00000369144.3 - 22 4147_4158 c.4007_4018delCAAGAGACCGAG c.(4006-4020)tcaagagaccgagaa>taa p.1336_1340SRDRE>* EIF3A_ENST00000541549.1_In_Frame_Del_p.1302_1306SRDRE>* NM_003750.2 NP_003741.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 3 subunit A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634) ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743) biliary_tract(2)|breast(12)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|oesophagus(1)|pancreas(22) 185 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGTCTCTTTCTCGGTCTCTTGAAAGAGCTGG 0.3859223300970874 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U78311 HGNC:3271 Approved gene with protein product protein-coding gene EIF3, EIF3S10 "eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa", "eukaryotic translation initiation factor 3, subunit A" eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32 10q26.11 2015-12-04 2007-07-27 2015-12-04 U78311 ENSG00000107581 9054404, 8590280 NM_003750 1121 Eukaryotic translation initiation factor 3 CCDS7608 OTTHUMG00000019144 602039 NM_003750 Q14152 ENSG00000107581 uc001ldu.4 B7ZBG9|Q6IBN8|Q96TD5 true false false false false false false EIF3A:8661 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005000402000200 1 false 144 rs766037789 8661 120795682 false 1404INPP5F 22876 __UNKNOWN__ hg19 10 121541194 121541195 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:121541194_121541195insG ENST00000361976.2 + 3 392 c.226_227insG c.(226-228)aaafs p.K76fs INPP5F_ENST00000369081.1_5'UTR|INPP5F_ENST00000369083.3_Frame_Shift_Ins_p.K76fs NM_014937.3 NP_055752.1 Q01968 OCRL_HUMAN inositol polyphosphate-5-phosphatase F __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281) clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802) inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGGTGGGCAAACTCCCAGG 0.3625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471066 HGNC:17054 Approved gene with protein product protein-coding gene SAC2, KIAA0966, hSac2 10q26.11 2017-03-24 AB023183 ENSG00000198825 11274189, 25869669 NM_014937 1079 Phosphoinositide phosphatases CCDS7616, CCDS58098, CCDS81513 OTTHUMG00000019158 609389 NM_001243194 Q9Y2H2 ENSG00000198825 uc001leo.4 A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22876 false 1405ACADSB 36 __UNKNOWN__ hg19 10 124794031 124794031 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr10:124794031G>T ENST00000368869.4 + 2 ACADSB_ENST00000358776.4_Splice_Site_p.V68F|ACADSB_ENST00000496730.2_Splice_Site P45954 ACDSB_HUMAN acyl-CoA dehydrogenase short/branched chain __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Isoleucine(DB00167)|Valproic Acid(DB00313) AAAGAGTTCAGGTAAGTAAAT 0.40648379052369077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL731666 HGNC:91 Approved gene with protein product protein-coding gene "acyl-Coenzyme A dehydrogenase, short/branched chain" SBCAD, ACAD7 10q26.13 2017-09-21 2017-09-21 U12778 1.3.99.- ENSG00000196177 7698750, 7759115 NM_001609 974 Acyl-CoA dehydrogenase family CCDS7634, CCDS81518 OTTHUMG00000019200 600301 NM_001609 P45954 ENSG00000196177 uc001lhb.4 B4DQ51|Q5SQN6|Q96CX7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 36 false 1406OR51E1 143503 __UNKNOWN__ hg19 11 4664657 4664657 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:4664657C>T ENST00000396952.5 + 1 NM_152430.3 NP_689643.2 Q8TCB6 O51E1_HUMAN olfactory receptor family 51 subfamily E member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(32)|central_nervous_system(22)|large_intestine(35)|lung(3)|pancreas(22) 116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGAATTCCACGCTTAGCAAG 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471064 HGNC:15194 Approved gene with protein product protein-coding gene OR51E1P, OR52A3P, GPR164 "olfactory receptor, family 51, subfamily E, member 1 pseudogene", "olfactory receptor, family 51, subfamily E, member 1" GPR136 11p15.4 2015-12-09 2004-11-06 2015-12-09 AY775731 ENSG00000180785 NM_152430 164 Olfactory receptors, family 51 CCDS31358 OTTHUMG00000157024 611267 NM_152430 Q8TCB6 ENSG00000180785 uc001lzi.5 A8KAM6|Q5S4P5|Q66X57|Q6IF93 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 143503 false 1407OR51G1 79324 __UNKNOWN__ hg19 11 4945317 4945318 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:4945317_4945318insT ENST00000321961.2 - 1 321 c.252_253insA c.(253-255)ggcfs p.G85fs MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor family 51 subfamily G member 1 (gene/pseudogene) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGAAAATGCCCAGCACAGTG 0.5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK004286 HGNC:14738 Approved gene with protein product protein-coding gene OR51G3P "olfactory receptor, family 51, subfamily G, member 1 (gene/pseudogene)" 11p15.4 2016-10-10 2015-12-09 AB065793 ENSG00000278870 NM_001005237 164 Olfactory receptors, family 51 OTTHUMG00000066532 NM_001005237 Q8NGK1 ENSG00000278870 uc010qyr.2 B9EGW8|Q6IFH6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79324 false 1408OR52N2 390077 __UNKNOWN__ hg19 11 5842447 5842448 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:5842447_5842448insC ENST00000317037.2 + 1 904 c.882_883insC c.(883-885)tatfs p.Y295fs TRIM5_ENST00000380027.1_Intron NM_001005174.1 NP_001005174.1 Q8NGI0 O52N2_HUMAN olfactory receptor family 52 subfamily N member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCAATTGTTTATGGAGTCA 0.3725 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471064 HGNC:15228 Approved gene with protein product protein-coding gene "olfactory receptor, family 52, subfamily N, member 2" 11p15.4 2015-12-09 2015-12-09 AB065816 ENSG00000180988 NM_001005174 165 Olfactory receptors, family 52 CCDS31399 OTTHUMG00000168801 NM_001005174 Q8NGI0 ENSG00000180988 uc010qzp.3 Q6IFF9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 390077 false 1409FAM111B 374393 __UNKNOWN__ hg19 11 58891938 58891939 + Frame_Shift_Ins INS - - CT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:58891938_58891939insCT ENST00000343597.3 + 4 559 c.368_369insCT c.(367-369)aatfs p.Q124fs FAM111B_ENST00000529618.1_Frame_Shift_Ins_p.Q94fs|FAM111B_ENST00000411426.1_Frame_Shift_Ins_p.Q94fs NM_198947.3 NP_945185.1 Q6SJ93 F111B_HUMAN family with sequence similarity 111 member B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ catalytic activity (GO:0003824) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(12)|pancreas(22) 179 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGATAAAGAATCAGTTTAAT 0.3475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC130539 HGNC:24200 Approved gene with protein product protein-coding gene "family with sequence similarity 111, member B" CANP 11q12.1 2016-09-30 2015-11-18 BC062456 ENSG00000189057 24268661 NM_198947 CCDS7972, CCDS44611 OTTHUMG00000167279 615584 NM_001142703 Q6SJ93 ENSG00000189057 uc001nnl.5 B4E2G2|Q6P661 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 374393 false 1410OR5AN1 390195 __UNKNOWN__ hg19 11 59132518 59132519 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:59132518_59132519insG ENST00000313940.2 + 1 634 c.587_588insG c.(586-588)gtafs p.Q197fs NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor family 5 subfamily AN member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTCTTTGTACAGGTCATG 0.435 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK004508 HGNC:15255 Approved gene with protein product protein-coding gene "olfactory receptor, family 5, subfamily AN, member 1" 11q12.1 2015-12-09 2015-12-09 AB065806 ENSG00000176495 NM_001004729 152 Olfactory receptors, family 5 CCDS31559 OTTHUMG00000167337 615702 NM_001004729 Q8NGI8 ENSG00000176495 uc010rks.3 B9EIS2|Q6IEV4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 390195 false 1411SLC22A25 387601 __UNKNOWN__ hg19 11 62931299 62931300 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:62931299_62931300insC ENST00000306494.6 - 9 1641 c.1640_1641insG c.(1639-1641)ctafs p.*548fs SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000525620.1_Intron NM_199352.3 NP_955384.3 solute carrier family 22 member 25 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGACCTATAGCACAGAGC 0.51 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC101316 HGNC:32935 Approved gene with protein product protein-coding gene "MGI:2442751, MGI:2385316, MGI:3042283, MGI:3645714, MGI:3605624, MGI:2442750", "solute carrier family 22, member 25" UST6, HIMTP, MGC120420 11q12.3 2015-12-08 2015-12-08 AY437532 ENSG00000196600 17714910 NM_199352 752 Solute carriers CCDS31592 OTTHUMG00000165340 610792 NM_199352 Q6T423 ENSG00000196600 uc001nwr.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 387601 false 1412STIP1 10963 __UNKNOWN__ hg19 11 63953121 63953121 + DE_NOVO_START_IN_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:63953121G>T ENST00000358794.5 + 1 STIP1_ENST00000305218.4_5'Flank|STIP1_ENST00000538945.1_5'Flank|STIP1_ENST00000543847.1_5'Flank|STIP1_ENST00000540501.1_5'Flank NM_001282652.1 NP_001269581.1 P31948 STIP1_HUMAN stress induced phosphoprotein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ response to stress (GO:0006950) Golgi apparatus (GO:0005794)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAACCCAGAGGCCCCGCAGC 0.6733167082294265 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471076 HGNC:11387 Approved gene with protein product protein-coding gene "stress-induced-phosphoprotein 1" HOP, STI1 "Hsp70/Hsp90-organizing protein" 11q13.1 2016-10-05 2015-11-20 BC039299 ENSG00000168439 1569099 NM_006819 769 Tetratricopeptide repeat domain containing CCDS8058, CCDS60827, CCDS60828 OTTHUMG00000167789 605063 NM_001282652 P31948 ENSG00000168439 uc001nyk.2 B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10963 false 1413UVRAG 7405 __UNKNOWN__ hg19 11 75694488 75694488 + DE_NOVO_START_IN_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:75694488C>T ENST00000533454.1 + 3 UVRAG_ENST00000356136.3_Missense_Mutation_p.R253W|UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000528420.1_Missense_Mutation_p.R152W|UVRAG_ENST00000539288.1_DE_NOVO_START_IN_FRAME Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|soft_tissue(4)|urinary_tract(1) 188 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAACTGGAACGGCAGAAGAA 0.32169576059850374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AP003168 HGNC:12640 Approved gene with protein product protein-coding gene "UV radiation resistance associated gene" VPS38 "beclin 1 binding protein" 11q13.5 2016-10-05 2012-11-15 X99050, AB012958 ENSG00000198382 9169138, 16799551, 18843052 NM_003369 823 C2 domain containing CCDS8241 OTTHUMG00000165319 602493 NM_003369 Q9P2Y5 ENSG00000198382 uc001oxc.4 B3KTC1|O00392 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7405 false 1414UVRAG 7405 __UNKNOWN__ hg19 11 75694530 75694530 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:75694530A>G ENST00000533454.1 + 3 UVRAG_ENST00000356136.3_Missense_Mutation_p.K267E|UVRAG_ENST00000531818.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000532130.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000539288.1_DE_NOVO_START_OUT_FRAME|UVRAG_ENST00000528420.1_Missense_Mutation_p.K166E Q9P2Y5 UVRAG_HUMAN UV radiation resistance associated __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718) cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|soft_tissue(4)|urinary_tract(1) 188 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTACTGCATAAGCAACAAAT 0.34413965087281795 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AP003168 HGNC:12640 Approved gene with protein product protein-coding gene "UV radiation resistance associated gene" VPS38 "beclin 1 binding protein" 11q13.5 2016-10-05 2012-11-15 X99050, AB012958 ENSG00000198382 9169138, 16799551, 18843052 NM_003369 823 C2 domain containing CCDS8241 OTTHUMG00000165319 602493 NM_003369 Q9P2Y5 ENSG00000198382 uc001oxc.4 B3KTC1|O00392 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7405 false 1415NARS2 79731 __UNKNOWN__ hg19 11 78282425 78282425 + DE_NOVO_START_OUT_FRAME SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:78282425G>C ENST00000528850.1 - 2 NARS2_ENST00000281038.5_Missense_Mutation_p.S69C Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ asparaginyl-tRNA aminoacylation (GO:0006421)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrion (GO:0005739) asparagine-tRNA ligase activity (GO:0004816)|ATP binding (GO:0005524)|nucleic acid binding (GO:0003676) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Asparagine(DB00174) GCTTTCCAAAGATGACCCATC 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471076 HGNC:26274 Approved gene with protein product protein-coding gene DFNB94 "deafness, autosomal recessive 94", "asparaginyl-tRNA synthetase 2, mitochondrial (putative)" FLJ23441, SLM5 "asparagine tRNA ligase 2, mitochondrial (putative)" 11q14.1 2017-09-15 2017-09-15 BC007800 6.1.1.22 ENSG00000137513 15779907, 25807530 NM_024678 132|1152 Aminoacyl tRNA synthetases, Class II|Deafness associated genes CCDS8261, CCDS58164 OTTHUMG00000166702 612803 NM_001243251 Q96I59 ENSG00000137513 uc001ozi.3 G3V178 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79731 false 1416C11orf1 64776 __UNKNOWN__ hg19 11 111753117 111753118 + Frame_Shift_Ins INS - - GT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:111753117_111753118insGT ENST00000530214.1 + 2 90 c.71_72insGT c.(70-72)acafs p.N25fs C11orf1_ENST00000528125.1_5'UTR|C11orf1_ENST00000260276.3_Frame_Shift_Ins_p.N25fs|C11orf1_ENST00000529270.1_Frame_Shift_Ins_p.N65fs|FDXACB1_ENST00000260257.4_5'Flank|FDXACB1_ENST00000542429.1_5'Flank|ALG9_ENST00000524880.1_5'Flank Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTCCTCACAAACCCACAC 0.4425 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AP001781 HGNC:1163 Approved gene with protein product protein-coding gene FLJ23499 11q23.1 2017-07-07 AJ250229 ENSG00000137720 10873569 NM_022761 CCDS8350, CCDS81625 OTTHUMG00000166884 NM_022761 Q9H5F2 ENSG00000137720 uc001pmd.4 Q6I9X7|Q9NQC6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64776 false 1417TMPRSS5 80975 __UNKNOWN__ hg19 11 113565234 113565234 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:113565234G>A ENST00000536856.1 - 6 TMPRSS5_ENST00000299882.5_Missense_Mutation_p.R251C|TMPRSS5_ENST00000540540.1_DE_NOVO_START_OUT_FRAME|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.R242C|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.R207C|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000545265.1_5'Flank Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ proteolysis (GO:0006508) integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCACCCAGCGTGGCGCTAGC 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471065 HGNC:14908 Approved gene with protein product protein-coding gene MGC141886, MGC148044 "spinesin" 11q23.2 2016-10-05 2008-07-31 AB028140 ENSG00000166682 NM_030770 1404|738 Scavenger receptor cysteine rich domain containing|Proteases, serine CCDS44735, CCDS73390, CCDS73391, CCDS73392, CCDS73393 OTTHUMG00000168186 606751 NM_001288749 Q9H3S3 ENSG00000166682 uc001poc.6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80975 false 1418TMPRSS5 80975 __UNKNOWN__ hg19 11 113565260 113565260 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr11:113565260G>A ENST00000536856.1 - 6 TMPRSS5_ENST00000299882.5_Missense_Mutation_p.T242M|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.T233M|TMPRSS5_ENST00000540540.1_DE_NOVO_START_IN_FRAME|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.T198M|TMPRSS5_ENST00000544634.1_Intron|TMPRSS5_ENST00000544476.1_Intron|TMPRSS5_ENST00000545265.1_5'Flank Q9H3S3 TMPS5_HUMAN transmembrane protease, serine 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ proteolysis (GO:0006508) integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886) peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCCCCACACGTGTGCCGGAA 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471065 HGNC:14908 Approved gene with protein product protein-coding gene MGC141886, MGC148044 "spinesin" 11q23.2 2016-10-05 2008-07-31 AB028140 ENSG00000166682 NM_030770 1404|738 Scavenger receptor cysteine rich domain containing|Proteases, serine CCDS44735, CCDS73390, CCDS73391, CCDS73392, CCDS73393 OTTHUMG00000168186 606751 NM_001288749 Q9H3S3 ENSG00000166682 uc001poc.6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80975 false 1419TAS2R43 259289 __UNKNOWN__ hg19 12 11243924 11243929 + In_Frame_Del DEL TTCACC TTCACC - 867813065 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:11243924_11243929delTTCACC ENST00000531678.1 - 1 990_995 c.900_905delGGTGAA c.(898-906)tgggtgaaa>tga p.300_302WVK>* TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste 2 receptor member 43 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886) bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527) haematopoietic_and_lymphoid_tissue(1) 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCTCTCCTTTCACCCAGTACCTCA 0.35714285714285715 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC117423 HGNC:18875 Approved gene with protein product protein-coding gene "taste receptor, type 2, member 43" T2R52 12p13.2 2015-12-16 2015-12-16 AF494237 12379855 NM_176884 1162 Taste 2 receptors CCDS53749 612668 NM_176884 P59537 ENSG00000255374 uc001qzq.1 P59546|Q645X4 true false false false false false false PRH1-TAS2R14:106707243|TAS2R43:259289|PRH1:5554|PRH1-PRR4:100533464 false true true false false false false false true false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000080005000402000210 1 false 147 rs867813065 259289 11243924 false 1420OVCH1 341350 __UNKNOWN__ hg19 12 29597130 29597131 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:29597130_29597131insA ENST00000318184.5 - 24 2965 c.2964_2965insT c.(2965-2967)aagfs p.K989fs OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|breast(32)|central_nervous_system(23)|large_intestine(36)|pancreas(112) 205 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCTGGCTTGGTCAGAAGA 0.3825 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BN000128 HGNC:23080 Approved gene with protein product protein-coding gene OVCH 12p11.22 2016-10-05 BN000128 ENSG00000187950 12838346 NM_183378 OTTHUMG00000167741 XM_011520638 Q7RTY7 ENSG00000187950 uc001rix.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 341350 false 1421SCN8A 6334 __UNKNOWN__ hg19 12 52201139 52201140 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:52201139_52201140insC ENST00000354534.6 + 27 6047 c.5869_5870insC c.(5869-5871)aaafs p.K1957fs SCN8A_ENST00000545061.1_Frame_Shift_Ins_p.K1916fs|AC068987.1_ENST00000599343.1_5'Flank NM_014191.3 NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium voltage-gated channel alpha subunit 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814) axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018) ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Valproic Acid(DB00313) GAAAAGGAGAAACAGCAGCG 0.465 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FJ611941 HGNC:10596 Approved gene with protein product protein-coding gene MED "sodium channel, voltage gated, type VIII, alpha polypeptide", "sodium channel, voltage gated, type VIII, alpha subunit", "sodium channel, voltage gated, type VIII alpha subunit" Nav1.6, NaCh6, PN4, CerIII, CIAT 12q13.13 2017-05-10 2016-02-05 AB027567 ENSG00000196876 7670495, 9828131, 16382098 NM_014191 1203 Sodium voltage-gated channel alpha subunits CCDS44891, CCDS53794, CCDS81692 OTTHUMG00000169490 600702 NM_001177984 Q9UQD0 ENSG00000196876 uc001ryw.4 B9VWG8|O95788|Q9NYX2|Q9UPB2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6334 false 1422C12orf10 60314 __UNKNOWN__ hg19 12 53699726 53699727 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:53699726_53699727insA ENST00000549488.1 + 2 205 c.35_36insA c.(34-36)gtgfs p.D13fs C12orf10_ENST00000267103.5_Frame_Shift_Ins_p.D176fs|C12orf10_ENST00000548632.1_Intron Q9HB07 MYG1_HUMAN chromosome 12 open reading frame 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ locomotory exploration behavior (GO:0035641)|pigmentation (GO:0043473) extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGATGCTGTGGACAATGGG 0.515 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC073611 HGNC:17590 Approved gene with protein product protein-coding gene MYG, MYG1, Gamm1 "melanocyte related gene", "melanocyte proliferating gene 1" 12q13.13 2017-08-04 AF289485 ENSG00000139637 16996721 NM_021640 CCDS31810 OTTHUMG00000170030 611366 NM_021640 Q9HB07 ENSG00000139637 uc001scp.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 60314 false 1423HOXC8 3224 __UNKNOWN__ hg19 12 54405153 54405154 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:54405153_54405154insC ENST00000040584.4 + 2 954 c.717_718insC c.(718-720)aacfs p.N240fs RP11-834C11.12_ENST00000513209.1_Intron|HOXC6_ENST00000394331.3_5'Flank NM_022658.3 NP_073149.1 P31273 HXC8_HUMAN homeobox C8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351) microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634) sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGGAAGAAAACAAGGACT 0.44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GBM(197;701 2226 7002 18822 41696) X99681 HGNC:5129 Approved gene with protein product protein-coding gene HOX3, HOX3A "homeo box C8" 12q13.13 2015-08-25 2005-12-22 X99680 1973146, 1358459 518 HOXL subclass homeoboxes CCDS8870 142970 NM_022658 P31273 ENSG00000037965 uc001ser.4 A8K4J4|O15221|O15362 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3224 false 1424MUCL1 118430 __UNKNOWN__ hg19 12 55248357 55248357 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:55248357G>T ENST00000308796.6 + 1 MUCL1_ENST00000546809.1_Intron|MUCL1_ENST00000547990.1_Intron NM_058173.2 NP_477521.1 Q96DR8 MUCL1_HUMAN mucin like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687) extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|membrane (GO:0016020) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGATCTTCAGGTCACCACCA 0.44389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC111421 HGNC:30588 Approved gene with protein product protein-coding gene SBEM "small breast epithelial mucin" 12q13.2 2016-01-15 2016-01-15 AF414087 12019145 NM_058173 CCDS8885 610857 NM_058173 Q96DR8 ENSG00000172551 uc001sgk.4 Q0VG95|Q32ZB5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 118430 false 1425MDM1 56890 __UNKNOWN__ hg19 12 68719304 68719304 + DE_NOVO_START_OUT_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:68719304T>C ENST00000540418.1 - 3 MDM1_ENST00000411698.2_Intron|MDM1_ENST00000303145.7_Missense_Mutation_p.N184D|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000430606.2_3'UTR|MDM1_ENST00000545724.1_Intron Q8TC05 MDM1_HUMAN Mdm1 nuclear protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ retina development in camera-type eye (GO:0060041) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCAAGGCATTATATGAAGGA 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC022511 HGNC:29917 Approved gene with protein product protein-coding gene "Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)", "Mdm1 nuclear protein homolog (mouse)" 12q15 2015-06-19 2015-06-19 AF007130 8619474, 9110174 NM_020128 CCDS8983, CCDS44938, CCDS55841, CCDS55842 613813 NM_001205028 Q8TC05 ENSG00000111554 uc001stz.3 B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56890 false 1426UHRF1BP1L 23074 __UNKNOWN__ hg19 12 100452662 100452663 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:100452662_100452663insA ENST00000279907.7 - 14 2606 c.2392_2393insT c.(2392-2394)cctfs p.P798fs UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.P448fs NM_015054.1 NP_055869.1 A0JNW5 UH1BL_HUMAN UHRF1 binding protein 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ breast(1)|central_nervous_system(22)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 25 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACGAGGAAGGGGAAAATCT 0.4025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC127017 HGNC:29102 Approved gene with protein product protein-coding gene KIAA0701 12q23.1 2016-03-02 2016-03-02 ENSG00000111647 NM_001006947 CCDS31882, CCDS31883 OTTHUMG00000170195 NM_001006947 A0JNW5 ENSG00000111647 uc001tgq.4 A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23074 false 1427ATXN2 6311 __UNKNOWN__ hg19 12 111993688 111993688 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:111993688G>A ENST00000542287.2 - 2 ATXN2_ENST00000377617.3_Splice_Site_p.T256M|ATXN2_ENST00000389153.4_DE_NOVO_START_IN_FRAME|ATXN2_ENST00000608853.1_Splice_Site_p.T96M|ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000550104.1_Splice_Site_p.T256M|ATXN2_ENST00000549455.1_Intron Q99700 ATX2_HUMAN ataxin 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063) cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802) epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723) biliary_tract(2)|breast(32)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|large_intestine(35)|pancreas(22) 203 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTACTCACCGTAGACTGAGG 0.32169576059850374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC111757 HGNC:10555 Approved gene with protein product protein-coding gene SCA2, TNRC13 "spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)" ATX2 "trinucleotide repeat containing 13" 12q24.12 2017-03-24 2004-08-13 2004-08-12 U80749 ENSG00000204842 8358438, 9225980 NM_002973 411|775 Ataxins|Trinucleotide repeat containing CCDS31902, CCDS81738, CCDS81739 OTTHUMG00000133475 601517 NM_001310121 Q99700 ENSG00000204842 uc001tsj.3 A6NLD4|Q6ZQZ7|Q99493 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6311 false 1428PRKAB1 5564 __UNKNOWN__ hg19 12 120111850 120111850 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:120111850C>T ENST00000540121.1 + 3 PRKAB1_ENST00000229328.5_Silent_p.H135H|PRKAB1_ENST00000541640.1_Silent_p.H135H Q9Y478 AAKB1_HUMAN protein kinase AMP-activated non-catalytic subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165) AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|nucleus (GO:0005634) protein kinase activity (GO:0004672) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(323)|ovary(58)|pancreas(30)|prostate(58)|upper_aerodigestive_tract(72) 875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Metformin(DB00331) AGTGGACGCACGACCCTTCCG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC002563 HGNC:9378 Approved gene with protein product protein-coding gene "protein kinase, AMP-activated, beta 1 non-catalytic subunit" "AMPK beta 1" 12q24.23 2016-10-05 2016-01-27 BC001823 ENSG00000111725 8557660 NM_006253 CCDS9191 OTTHUMG00000168954 602740 NM_006253 Q9Y478 ENSG00000111725 uc001txg.4 Q9UBV0|Q9UE20|Q9UEX2|Q9Y6V8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5564 false 1429ZCCHC8 55596 __UNKNOWN__ hg19 12 122977328 122977328 + DE_NOVO_START_OUT_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:122977328A>C ENST00000543897.1 - 2 ZCCHC8_ENST00000536306.1_DE_NOVO_START_OUT_FRAME|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.L84W|SNORA9_ENST00000516383.1_5'Flank Q6NZY4 ZCHC8_HUMAN zinc finger CCHC-type containing 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mRNA splicing, via spliceosome (GO:0000398) catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) ZCCHC8{ENST00000336229}:r.1_373_ROS1{ENST00000368508}:r.5977_7435(2) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|skin(38) 128 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCGTTCACCAATATTCCACT 0.3266832917705736 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC065918 HGNC:25265 Approved gene with protein product protein-coding gene DKFZp434E2220 12q24.31 2016-02-12 2016-02-12 BC017704 16263084, 21855801 NM_017612 1316|74 Nuclear exosome targeting complex|Zinc fingers CCHC-type 616381 NM_017612 Q6NZY4 ENSG00000033030 uc284ngs.1 Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55596 false 1430ZNF10 7556 __UNKNOWN__ hg19 12 133727648 133727649 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:133727648_133727649insA ENST00000248211.6 + 3 290 c.68_69insA c.(67-69)ttcfs p.F23fs ZNF10_ENST00000426665.2_Frame_Shift_Ins_p.F23fs|CTD-2140B24.4_ENST00000540096.2_Frame_Shift_Ins_p.F23fs|ZNF10_ENST00000402932.2_Frame_Shift_Ins_p.F23fs|ZNF268_ENST00000416488.1_Frame_Shift_Ins_p.F23fs|ZNF10_ENST00000540927.1_Intron NM_015394.4 NP_056209.2 P21506 ZNF10_HUMAN zinc finger protein 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 153 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTGGACTTCACCAGGGAG 0.44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X52332 HGNC:12879 Approved gene with protein product protein-coding gene "zinc finger protein 10 (KOX 1)" KOX1 12q24.33 2014-11-19 2005-05-22 X52332, BC024182 ENSG00000256223 7865130, 8262519 NM_015394 28 Zinc fingers C2H2-type CCDS9283 OTTHUMG00000167944 194538 NM_015394 P21506 ENSG00000256223 uc001ulq.4 B2RBS1|Q8TC91 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7556 false 1431ZNF268 10795 __UNKNOWN__ hg19 12 133780295 133780296 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr12:133780295_133780296insC ENST00000536435.2 + 6 2353 c.2023_2024insC c.(2023-2025)aaafs p.K675fs ZNF268_ENST00000228289.5_Frame_Shift_Ins_p.K675fs|ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Ins_p.K514fs NM_003415.2 NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell differentiation (GO:0030154)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter during mitosis (GO:0046022)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein heterodimerization activity (GO:0043497)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAATGTGCAAAAACCTTTAG 0.4025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X78926 HGNC:13061 Approved gene with protein product protein-coding gene HZF3 12q24.33 2016-11-09 X78926 ENSG00000090612 7865130 NM_152943 28 Zinc fingers C2H2-type CCDS45012, CCDS53851, CCDS53852, CCDS53853, CCDS53854, CCDS59239, CCDS59240 OTTHUMG00000167946 604753 NM_001165881 Q14587 ENSG00000090612 uc010tcf.3 Q8TDG8|Q96RH4|Q9BZJ9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10795 false 1432SAP18 10284 __UNKNOWN__ hg19 13 21714654 21714654 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr13:21714654A>G ENST00000382533.4 + 1 SAP18_ENST00000607003.1_5'Flank|SAP18_ENST00000485646.1_5'Flank|SNORD27_ENST00000516319.1_5'Flank NM_005870.4 NP_005861.2 O00422 SAP18_HUMAN Sin3A associated protein 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351) ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634) poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCGACTATAAAGTGTCGAG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U96915 HGNC:10530 Approved gene with protein product protein-coding gene "sin3A-associated protein, 18kDa" SAP18p, 2HOR0202, MGC27131 13q12.11 2016-06-01 2016-06-01 U96915 ENSG00000150459 9150135 NM_005870 1508|1236|1510|1306 Spliceosomal Bact complex|ASAP complex|Spliceosomal C complex|SIN3 histone deacetylase complex CCDS9295 OTTHUMG00000016535 602949 NM_005870 O00422 ENSG00000150459 uc058vuw.1 B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10284 false 1433SMAD9 4093 __UNKNOWN__ hg19 13 37427618 37427619 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr13:37427618_37427619insT ENST00000350148.5 - 5 1396 c.1086_1087insA c.(1087-1089)cacfs p.H363fs SMAD9_ENST00000399275.2_Frame_Shift_Ins_p.H400fs|SMAD9_ENST00000379826.4_Frame_Shift_Ins_p.H400fs|SMAD9-AS1_ENST00000437983.2_5'Flank NM_005905.5 NP_005896.1 O15198 SMAD9_HUMAN SMAD family member 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657) cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(190)|pancreas(22)|salivary_gland(1) 373 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAAAGCCGTGGTGAACTGAC 0.475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D83761 HGNC:6774 Approved gene with protein product protein-coding gene MADH6, MADH9 "MAD, mothers against decapentaplegic homolog 9 (Drosophila)", "SMAD, mothers against DPP homolog 9 (Drosophila)" SMAD8, SMAD8/9 13q13.3 2017-03-24 2004-05-26 2006-11-06 ENSG00000120693 9205116 NM_005905 750 SMAD family CCDS9360, CCDS45032 OTTHUMG00000016740 603295 NM_001127217 O15198 ENSG00000120693 uc001uvw.3 A2A2Y6|O14989|Q5TBA1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4093 false 1434LMO7 4008 __UNKNOWN__ hg19 13 76335079 76335079 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr13:76335079C>T ENST00000321797.8 + 2 LMO7_ENST00000465261.2_DE_NOVO_START_OUT_FRAME|LMO7_ENST00000341547.4_Silent_p.N126N|LMO7_ENST00000526202.1_Silent_p.N35N|LMO7_ENST00000357063.3_Silent_p.N126N|LMO7_ENST00000377534.3_Silent_p.N126N|RP11-29G8.3_ENST00000563635.1_RNA Q8WWI1 LMO7_HUMAN LIM domain 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein ubiquitination (GO:0016567) cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151) ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(222)|central_nervous_system(44)|large_intestine(37)|lung(134)|ovary(58)|pancreas(30)|prostate(58) 585 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAATATAAACGTTTTCTTGA 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL359392 HGNC:6646 Approved gene with protein product protein-coding gene FBXO20 "LIM domain only 7" FBX20, KIAA0858 "F-box only protein 20" 13q22.2 2014-11-19 2004-06-15 AF092557 ENSG00000136153 9826547, 10531035 NM_005358 1218|1220 LIM domain containing|PDZ domain containing CCDS9454, CCDS53876, CCDS81773, CCDS81774 OTTHUMG00000017093 604362 NM_001306080 Q8WWI1 ENSG00000136153 uc010thv.4 E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4008 false 1435DTD2 112487 __UNKNOWN__ hg19 14 31917379 31917380 + Frame_Shift_Ins INS - - GG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr14:31917379_31917380insGG ENST00000310850.4 - 3 580 c.462_463insCC c.(463-465)aagfs p.K155fs RP11-176H8.1_ENST00000547378.1_Intron|DTD2_ENST00000356180.4_Frame_Shift_Ins_p.K155fs|CTD-2213F21.2_ENST00000502430.2_RNA NM_080664.2 NP_542395.1 Q96FN9 DTD2_HUMAN D-tyrosyl-tRNA deacylase 2 (putative) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D-amino acid catabolic process (GO:0019478) cytoplasm (GO:0005737) hydrolase activity, acting on ester bonds (GO:0016788) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCCAGCTTTAACACCTGC 0.365 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471078 HGNC:20277 Approved gene with protein product protein-coding gene C14orf126 "chromosome 14 open reading frame 126" MGC9912 14q12 2014-11-18 2012-09-25 2012-09-25 BC010618 ENSG00000129480 NM_080664 CCDS9643 OTTHUMG00000140205 NM_080664 Q96FN9 ENSG00000129480 uc001wrj.5 D3DS87 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 112487 false 1436MIPOL1 145282 __UNKNOWN__ hg19 14 37717112 37717112 + DE_NOVO_START_IN_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr14:37717112G>T ENST00000556451.1 + 5 MIPOL1_ENST00000327441.7_Splice_Site_p.D7Y|MIPOL1_ENST00000539062.2_DE_NOVO_START_OUT_FRAME|MIPOL1_ENST00000537471.1_Splice_Site_p.D7Y|MIPOL1_ENST00000396294.2_Splice_Site_p.D7Y|MIPOL1_ENST00000545536.1_DE_NOVO_START_IN_FRAME|MIPOL1_ENST00000536774.1_Intron Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGTCAAAAGGTAAGGACTT 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471078 HGNC:21460 Approved gene with protein product protein-coding gene CCDC193 14q13.3-q21.1 2017-06-08 AY059470 ENSG00000151338 11954550, 19667180 NM_138731 CCDS9664 OTTHUMG00000140252 606850 NM_001195296 Q8TD10 ENSG00000151338 uc001wuc.4 D3DSA4|Q7Z3J0|Q8IV14 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 145282 false 1437SAMD4A 23034 __UNKNOWN__ hg19 14 55226890 55226890 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr14:55226890G>T ENST00000555192.1 + 2 SAMD4A_ENST00000554335.1_Missense_Mutation_p.E396D|SAMD4A_ENST00000251091.5_Missense_Mutation_p.E308D|SAMD4A_ENST00000392067.3_Missense_Mutation_p.E396D|SAMD4A_ENST00000357634.3_Missense_Mutation_p.E395D NM_001161577.1 NP_001155049.1 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727) cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202) poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(72) 162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATCATCGAGGGGGGCAGCC 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471061 HGNC:23023 Approved gene with protein product protein-coding gene SAMD4 "sterile alpha motif domain containing 4" KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1 "smaug homolog (Drosophila)" 14q22.2 2016-04-25 2006-01-27 2006-01-27 AB028976 ENSG00000020577 16221671 NM_015589 760 Sterile alpha motif domain containing CCDS32084, CCDS55917, CCDS55918 OTTHUMG00000170999 610747 NM_001161576 Q9UPU9 ENSG00000020577 uc001xbb.4 A8MPZ5|Q0VA96|Q6PEW4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23034 false 1438NRDE2 55051 __UNKNOWN__ hg19 14 90759194 90759195 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr14:90759194_90759195insC ENST00000354366.3 - 9 1922 c.1688_1689insG c.(1687-1689)gaafs p.E564fs NRDE2_ENST00000357904.3_Frame_Shift_Ins_p.E333fs NM_017970.3 NP_060440.2 Q9H7Z3 NRDE2_HUMAN NRDE-2, necessary for RNA interference, domain containing __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCATCCTCTTCTGGTTCAT 0.53 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC098568 HGNC:20186 Approved gene with protein product protein-coding gene C14orf102 "chromosome 14 open reading frame 102" FLJ14051 14q32.11 2014-11-19 2012-09-25 2012-09-25 AK000870 ENSG00000119720 NM_017970 CCDS9890 OTTHUMG00000171020 NM_017970 Q9H7Z3 ENSG00000119720 uc001xyi.3 B4DH71|Q4G0A7|Q9NWH6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55051 false 1439TGM5 9333 __UNKNOWN__ hg19 15 43525779 43525780 + Frame_Shift_Ins INS - - AG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr15:43525779_43525780insAG ENST00000220420.5 - 12 1990 c.1981_1982insCT c.(1981-1983)ggcfs p.G661fs TGM5_ENST00000349114.4_Frame_Shift_Ins_p.G579fs NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein modification process (GO:0006464)|epidermis development (GO:0008544)|peptide cross-linking (GO:0018149) cytoplasm (GO:0005737) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Glutamine(DB00130) TTGAAGAGGCCACTTCCTTC 0.5125 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC119009 HGNC:11781 Approved gene with protein product protein-coding gene TGX 15q15.2 2016-01-15 AF035960 2.3.2.13 ENSG00000104055 9452468, 11390390 NM_004245 773 Transglutaminases CCDS32211, CCDS32212 OTTHUMG00000176488 603805 NM_004245 O43548 ENSG00000104055 uc001zrd.2 O43549|Q0VF40|Q9UEZ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9333 false 1440TUBGCP4 27229 __UNKNOWN__ hg19 15 43695952 43695953 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr15:43695952_43695953insA ENST00000260383.7 + 16 2060 c.1806_1807insA c.(1807-1809)ccafs p.P603fs TUBGCP4_ENST00000564079.1_Frame_Shift_Ins_p.P602fs|TUBGCP4_ENST00000399460.3_3'UTR NM_001286414.1 NP_001273343.1 Q9UGJ1 GCP4_HUMAN tubulin gamma complex associated protein 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461) centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922) structural constituent of cytoskeleton (GO:0005200) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAACCTAGGCCCACTGGATG 0.45 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471125 HGNC:16691 Approved gene with protein product protein-coding gene "tubulin, gamma complex associated protein 4" 76P, FLJ14797 15q15.3 2015-12-17 2015-12-17 AJ249677 ENSG00000137822 10562286 NM_014444 CCDS42030, CCDS66745 OTTHUMG00000176647 609610 NM_001286414 Q9UGJ1 ENSG00000137822 uc001zrn.5 B3KNK6|Q969X3|Q9NVF0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 27229 false 1441UNC13C 440279 __UNKNOWN__ hg19 15 54914591 54914591 + Missense_Mutation SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr15:54914591C>T ENST00000260323.11 + 30 6173 c.6173C>T c.(6172-6174)aCg>aTg p.T2058M UNC13C_ENST00000539562.2_DE_NOVO_START_IN_FRAME|UNC13C_ENST00000537900.1_Missense_Mutation_p.T2056M|UNC13C_ENST00000545554.1_Missense_Mutation_p.T2058M NM_001080534.1 NP_001074003.1 Q8NB66 UN13C_HUMAN unc-13 homolog C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268) cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786) diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872) biliary_tract(2)|central_nervous_system(22)|pancreas(22) 46 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCCCAGGAACGGGAGATCAT 0.3541147132169576 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC040740 HGNC:23149 Approved gene with protein product protein-coding gene "unc-13 homolog C (C. elegans)" Munc13-3, DKFZp547H074 15q21.3 2016-06-24 2016-06-24 AK091491 ENSG00000137766 NM_173166 836 UNC13 homologs CCDS45264 OTTHUMG00000172542 614568 NM_001080534 Q8NB66 ENSG00000137766 uc059jkr.1 Q0P613|Q8ND48|Q96NP3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 440279 false 1442CCDC33 80125 __UNKNOWN__ hg19 15 74528985 74528985 + DE_NOVO_START_IN_FRAME SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr15:74528985T>G ENST00000398814.3 + 1 CCDC33_ENST00000321288.5_Intron NM_025055.4 NP_079331.3 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|lung(1)|pancreas(22) 196 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGACTGATTCCTGATCACC 0.5561097256857855 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC031684 HGNC:26552 Approved gene with protein product protein-coding gene FLJ32855, CT61 "cancer/testis antigen 61" 15q24.1 2014-11-19 BC025689 12477932 NM_182791 823 C2 domain containing CCDS42058, CCDS42059, CCDS73753 NM_001287181 Q8N5R6 ENSG00000140481 uc002axo.4 A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80125 false 1443TSPAN3 10099 __UNKNOWN__ hg19 15 77348407 77348407 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr15:77348407G>A ENST00000558745.1 - 2 TSPAN3_ENST00000267970.4_Splice_Site_p.T85M|TSPAN3_ENST00000561277.1_DE_NOVO_START_IN_FRAME|TSPAN3_ENST00000346495.2_Splice_Site_p.T85M|TSPAN3_ENST00000424443.3_Intron|TSPAN3_ENST00000559494.1_Intron|TSPAN3_ENST00000558394.1_Splice_Site O60637 TSN3_HUMAN tetraspanin 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(171)|lung(1)|pancreas(22) 251 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACATCTTACCGTGGCAAGTCC 0.3915211970074813 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC090181 HGNC:17752 Approved gene with protein product protein-coding gene TM4SF8 "transmembrane 4 superfamily member 8" TM4-A, TSPAN-3 15q24.3 2016-10-05 2005-03-21 2005-03-21 ENSG00000140391 NM_005724 768 Tetraspanins CCDS10292, CCDS10293, CCDS53963 OTTHUMG00000143728 613134 NM_001168412 O60637 ENSG00000140391 uc002bcj.4 A6NEH4|B3KQQ2|B4DP19|Q9BW22|Q9NVX9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10099 false 1444CDH5 1003 __UNKNOWN__ hg19 16 66432463 66432463 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr16:66432463C>T ENST00000539168.1 + 4 CDH5_ENST00000341529.3_Splice_Site_p.H530H P33151 CADH5_HUMAN cadherin 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114) cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923) beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102) biliary_tract(2)|breast(243)|central_nervous_system(61)|large_intestine(11)|lung(232)|ovary(58)|pancreas(30)|prostate(58)|skin(42)|soft_tissue(36)|stomach(121)|urinary_tract(1) 895 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Lenalidomide(DB00480) CGGATAATCACGGTAGGCATC 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AK300322 HGNC:1764 Approved gene with protein product protein-coding gene "cadherin 5, type 2, VE-cadherin (vascular epithelium)", "cadherin 5, type 2 (vascular endothelium)" 7B4, CD144 "VE-cadherin" 16q21 2016-10-05 2016-01-15 X79981 ENSG00000179776 2059658 NM_001795 1186|471 Type II classical cadherins|CD molecules CCDS10804 OTTHUMG00000137495 601120 NM_001795 P33151 ENSG00000179776 uc002eom.5 Q4VAI5|Q4VAI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1003 false 1445SLC52A1 55065 __UNKNOWN__ hg19 17 4955266 4955266 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:4955266G>A ENST00000512825.2 - 1 Q9NWF4 S52A1_HUMAN solute carrier family 52 member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ riboflavin transport (GO:0032218) integral component of plasma membrane (GO:0005887) riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAGGCACCGTGGCTCAGGC 0.486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC012146 HGNC:30225 Approved gene with protein product protein-coding gene GPR172B "G protein-coupled receptor 172B", "solute carrier family 52 (riboflavin transporter), member 1" FLJ10060, GPCR42, PAR2, hRFT1, RFVT1 "riboflavin transporter 1" 17p13.2 2016-10-05 2012-02-29 2016-02-17 AY070775 ENSG00000132517 12740431, 18632736 NM_017986 752 Solute carriers CCDS11066 OTTHUMG00000099448 607883 NM_001104577 Q9NWF4 ENSG00000132517 uc002gap.5 B5MEV1|B5MEV2|Q6P9E0|Q86UT0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55065 false 1446ALOXE3 59344 __UNKNOWN__ hg19 17 8021612 8021612 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:8021612C>A ENST00000448843.2 - 2 ALOXE3_ENST00000380149.1_Missense_Mutation_p.Q55H|ALOXE3_ENST00000318227.3_Missense_Mutation_p.Q31H NM_021628.2 NP_067641.2 Q9BYJ1 LOXE3_HUMAN arachidonate lipoxygenase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665) cytoplasm (GO:0005737) hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(2)|pancreas(22) 184 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATCAGGAGCCTGGGTTCCAC 0.6109725685785536 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471108 HGNC:13743 Approved gene with protein product protein-coding gene eLOX3, E-LOX 17p13.1 2015-09-11 AJ269499 1.13.11.- ENSG00000179148 407 Arachidonate lipoxygenases CCDS11130, CCDS54084 OTTHUMG00000108179 607206 NM_001165960 Q9BYJ1 ENSG00000179148 uc010cnr.4 B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 59344 false 1447SLFN13 146857 __UNKNOWN__ hg19 17 33772713 33772713 + DE_NOVO_START_IN_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:33772713C>A ENST00000533791.1 - 1 SLFN13_ENST00000285013.6_Splice_Site|SLFN13_ENST00000526861.1_Splice_Site|SLFN13_ENST00000542635.1_Splice_Site|SLFN13_ENST00000534689.1_Splice_Site|SLFN13_ENST00000360502.2_5'Flank Q68D06 SLN13_HUMAN schlafen family member 13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular (GO:0005622) ATP binding (GO:0005524) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAACTTGCACCTTAAAGTATT 0.4089775561097257 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749630 HGNC:26481 Approved gene with protein product protein-coding gene FLJ31952 17q12 2015-09-11 AL832726 9846487 NM_144682 1110 Schlafen family CCDS32620 614957 NM_144682 Q68D06 ENSG00000154760 uc002hjl.2 E1P645|Q658M1|Q6ZS51|Q96A81 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 146857 false 1448ACBD4 79777 __UNKNOWN__ hg19 17 43212963 43212963 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:43212963G>T ENST00000431281.1 + 2 ACBD4_ENST00000591859.1_Intron|ACBD4_ENST00000321854.8_5'Flank|PLCD3_ENST00000322765.5_5'Flank|ACBD4_ENST00000376955.4_5'Flank|ACBD4_ENST00000398322.3_5'Flank|ACBD4_ENST00000586346.1_5'Flank|ACBD4_ENST00000592162.1_5'Flank|PLCD3_ENST00000540511.1_5'Flank|ACBD4_ENST00000591136.1_5'Flank NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTGAGGTAGGTAAGCCGAA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471178 HGNC:23337 Approved gene with protein product protein-coding gene "acyl-Coenzyme A binding domain containing 4" FLJ13322 17q21.31 2015-08-24 2010-04-30 BC029164 ENSG00000181513 NM_024722 CCDS42348, CCDS45710, CCDS45711 OTTHUMG00000180111 NM_001135705 Q8NC06 ENSG00000181513 uc002iic.4 D3DX64|Q8IUT1|Q9H8Q4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79777 false 1449ACBD4 79777 __UNKNOWN__ hg19 17 43212963 43212963 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:43212963G>T ENST00000431281.1 + 2 ACBD4_ENST00000591859.1_Intron|ACBD4_ENST00000321854.8_5'Flank|PLCD3_ENST00000322765.5_5'Flank|ACBD4_ENST00000376955.4_5'Flank|ACBD4_ENST00000398322.3_5'Flank|ACBD4_ENST00000586346.1_5'Flank|ACBD4_ENST00000592162.1_5'Flank|PLCD3_ENST00000540511.1_5'Flank|ACBD4_ENST00000591136.1_5'Flank NM_001135704.1 NP_001129176.1 Q8NC06 ACBD4_HUMAN acyl-CoA binding domain containing 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTTGAGGTAGGTAAGCCGAA 0.628428927680798 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471178 HGNC:23337 Approved gene with protein product protein-coding gene "acyl-Coenzyme A binding domain containing 4" FLJ13322 17q21.31 2015-08-24 2010-04-30 BC029164 ENSG00000181513 NM_024722 CCDS42348, CCDS45710, CCDS45711 OTTHUMG00000180111 NM_001135705 Q8NC06 ENSG00000181513 uc002iic.4 D3DX64|Q8IUT1|Q9H8Q4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79777 false 1450KPNB1 3837 __UNKNOWN__ hg19 17 45730168 45730168 + DE_NOVO_START_OUT_FRAME SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:45730168C>G ENST00000540627.1 + 2 KPNB1_ENST00000290158.4_Missense_Mutation_p.P70A|KPNB1_ENST00000535458.2_DE_NOVO_START_OUT_FRAME|KPNB1_ENST00000537679.1_5'Flank|KPNB1_ENST00000577918.1_Intron|RP11-580I16.2_ENST00000580045.1_5'Flank|RP11-580I16.2_ENST00000582389.1_5'Flank|RP11-580I16.2_ENST00000584391.1_5'Flank NM_001276453.1 NP_001263382.1 Q14974 IMB1_HUMAN karyopherin subunit beta 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(171)|lung(1)|pancreas(22) 343 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTAAAGATCCAGATATCAA 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AK316421 HGNC:6400 Approved gene with protein product protein-coding gene "karyopherin (importin) beta 1" NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1 "importin 1" 17q21.32 2016-02-01 2016-02-01 L39793 ENSG00000108424 7615630, 7627554 NM_002265 596|409 Importins|Armadillo repeat containing CCDS11513, CCDS62228 OTTHUMG00000036957 602738 NM_001276453 Q14974 ENSG00000108424 uc002ilt.3 B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3837 false 1451GGA3 23163 __UNKNOWN__ hg19 17 73242591 73242591 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr17:73242591G>A ENST00000582486.1 - 3 GGA3_ENST00000578348.1_DE_NOVO_START_IN_FRAME|GGA3_ENST00000245541.6_Splice_Site_p.T67M|GGA3_ENST00000582717.1_DE_NOVO_START_IN_FRAME|GGA3_ENST00000351904.7_Splice_Site_p.T67M|GGA3_ENST00000537686.1_Splice_Site_p.T67M|GGA3_ENST00000538886.1_Intron|GGA3_ENST00000579743.1_Splice_Site NM_001172703.1 NP_001166174.1 Q9NZ52 GGA3_HUMAN golgi associated, gamma adaptin ear containing, ARF binding protein 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192) clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|trans-Golgi network (GO:0005802) ADP-ribosylation factor binding (GO:0030306) biliary_tract(2)|breast(49)|central_nervous_system(44)|large_intestine(37)|lung(1)|pancreas(22) 155 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGACCTACCGTCAGGGCCTG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC022211 HGNC:17079 Approved gene with protein product protein-coding gene "golgi-associated, gamma adaptin ear containing, ARF binding protein 3" KIAA0154 17q25.1 2016-10-05 2016-03-30 AF190864 ENSG00000125447 10747089, 10749927 NM_138619 1031 Golgi associated, gamma adaptin ear containing, ARF binding proteins CCDS11716, CCDS11717, CCDS54164, CCDS58597 OTTHUMG00000179483 606006 NM_001172703 Q9NZ52 ENSG00000125447 uc032frk.2 B7Z7E2|B7Z7M9|J3KRN0|Q15017|Q6IS16|Q9UJY3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23163 false 1452ZADH2 284273 __UNKNOWN__ hg19 18 72914161 72914161 + DE_NOVO_START_OUT_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr18:72914161T>C ENST00000537114.2 - 2 ZADH2_ENST00000322342.3_Missense_Mutation_p.Y115C Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrion (GO:0005739)|peroxisome (GO:0005777) oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCAACTGTGTATCTGGCACT 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AK302801 HGNC:28697 Approved gene with protein product protein-coding gene MGC45594 18q22.3 2015-07-16 2008-05-29 BC033780 ENSG00000180011 12477932 NM_175907 CCDS12008, CCDS77198 OTTHUMG00000132858 NM_001306093 Q8N4Q0 ENSG00000180011 uc002llx.4 A8KA15|B4DZ91 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 284273 false 1453ZADH2 284273 __UNKNOWN__ hg19 18 72914280 72914280 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr18:72914280G>A ENST00000537114.2 - 2 ZADH2_ENST00000322342.3_Silent_p.N75N Q8N4Q0 ZADH2_HUMAN zinc binding alcohol dehydrogenase domain containing 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrion (GO:0005739)|peroxisome (GO:0005777) oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCAGATGCGTTAACACCAA 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AK302801 HGNC:28697 Approved gene with protein product protein-coding gene MGC45594 18q22.3 2015-07-16 2008-05-29 BC033780 ENSG00000180011 12477932 NM_175907 CCDS12008, CCDS77198 OTTHUMG00000132858 NM_001306093 Q8N4Q0 ENSG00000180011 uc002llx.4 A8KA15|B4DZ91 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 284273 false 1454TNFSF14 8740 __UNKNOWN__ hg19 19 6670529 6670529 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:6670529G>A ENST00000599359.1 - 1 TNFSF14_ENST00000326176.9_DE_NOVO_START_OUT_FRAME|TNFSF14_ENST00000245912.3_5'Flank O43557 TNF14_HUMAN TNF superfamily member 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of T cell chemotaxis (GO:0010820)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098) cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(2)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 185 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGAAACCTCGTAAACAAGAA 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR541871 HGNC:11930 Approved gene with protein product protein-coding gene "tumor necrosis factor (ligand) superfamily, member 14" LIGHT, LTg, HVEM-L, CD258 19p13.3 2017-03-02 2017-03-02 AF036581 ENSG00000125735 9462508 781|471 Tumor necrosis factor superfamily|CD molecules CCDS12171, CCDS45939 OTTHUMG00000181835 604520 NM_003807 O43557 ENSG00000125735 uc002mfk.3 A8K7M2|C9J5H4|O75476|Q6FHA1|Q8WVF8|Q96LD2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8740 false 1455GDF1 2657 __UNKNOWN__ hg19 19 18994994 18994994 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:18994994G>A ENST00000247005.6 - 3 CERS1_ENST00000429504.2_Silent_p.Y164Y|CERS1_ENST00000542296.2_Silent_p.Y66Y|CERS1_ENST00000427170.2_Silent_p.Y164Y P27539 GDF1_HUMAN growth differentiation factor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ growth (GO:0040007) extracellular space (GO:0005615) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAGCGTAGCGTAGATGGAGT 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M62302 HGNC:4214 Approved gene with protein product protein-coding gene 19p13.11 2016-10-24 M62302 ENSG00000130283 2034669 NM_001492 542 Endogenous ligands CCDS42526 OTTHUMG00000183278 602880 NM_001492 P27539 ENSG00000130283 uc060vuk.1 O43344 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2657 false 1456ZNF780B 163131 __UNKNOWN__ hg19 19 40542375 40542375 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:40542375G>A ENST00000221355.6 - 6 ZNF780B_ENST00000434248.1_Nonsense_Mutation_p.R131* Q9Y6R6 Z780B_HUMAN zinc finger protein 780B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(2)|central_nervous_system(22)|pancreas(22) 46 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCCCTGTCGTCCCTCAAAT 0.32917705735660846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471126 HGNC:33109 Approved gene with protein product protein-coding gene ZNF779 "zinc finger protein 779" 19q13.2 2017-03-10 2006-08-15 AK127063 ENSG00000128000 NM_001005851 28 Zinc fingers C2H2-type CCDS46077 OTTHUMG00000155118 NM_001005851 Q9Y6R6 ENSG00000128000 uc060yoj.1 B9EH00 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 163131 false 1457BCKDHA 593 __UNKNOWN__ hg19 19 41903671 41903671 + DE_NOVO_START_OUT_FRAME SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr19:41903671A>G ENST00000269980.2 + 1 CTC-435M10.3_ENST00000540732.1_Intron|BCKDHA_ENST00000595085.1_Intron|EXOSC5_ENST00000221233.4_5'Flank|BCKDHA_ENST00000457836.2_5'Flank|EXOSC5_ENST00000596905.1_5'Flank|CTC-435M10.3_ENST00000604424.1_Intron|CTC-435M10.10_ENST00000598988.1_5'Flank NM_001164783.1 NP_001158255.1 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha polypeptide __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281) mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGGCACATAAAGAGGCAGC 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z14093 HGNC:986 Approved gene with protein product protein-coding gene OVD1A "branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", "2-oxoisovalerate dehydrogenase (lipoamide)" MSU "maple syrup urine disease" 19q13.2 2016-10-05 2005-11-29 J04474 ENSG00000248098 NM_000709 CCDS12581 OTTHUMG00000168128 608348 NM_000709 P12694 ENSG00000248098 uc002oqq.4 B4DP47|E7EW46|Q16034|Q16472 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 593 false 1458ALLC 55821 __UNKNOWN__ hg19 2 3718692 3718692 + DE_NOVO_START_IN_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:3718692C>T ENST00000252505.3 + 2 NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ allantoin catabolic process (GO:0000256) allantoicase activity (GO:0004037) central_nervous_system(23)|upper_aerodigestive_tract(120) 143 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGAAGCACGGCTGATGCT 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471053 HGNC:17377 Approved gene with protein product protein-coding gene ALC 2p25.3 2014-11-18 AF215924 ENSG00000151360 11054555 CCDS46223 OTTHUMG00000151485 612396 NM_018436 Q8N6M5 ENSG00000151360 uc010ewt.4 Q53T95|Q5RL81|Q96RE6|Q9NZA7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55821 false 1459DNAJC27 51277 __UNKNOWN__ hg19 2 25194771 25194771 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:25194771C>T ENST00000264711.2 - 1 193 c.3G>A c.(1-3)atG>atA p.M1I DNAJC27_ENST00000534855.1_5'Flank|DNAJC27-AS1_ENST00000421904.1_RNA|DNAJC27-AS1_ENST00000451291.1_RNA|SNORD14_ENST00000365609.1_5'Flank|DNAJC27-AS1_ENST00000421842.1_5'Flank|DNAJC27-AS1_ENST00000422449.1_5'Flank|DNAJC27-AS1_ENST00000428614.1_5'Flank|DNAJC27-AS1_ENST00000434897.1_5'Flank|DNAJC27-AS1_ENST00000445389.1_5'Flank|DNAJC27_ENST00000468467.1_5'Flank NM_016544.2 NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ heat shock protein family (Hsp40) member C27 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ small GTPase mediated signal transduction (GO:0007264) mitochondrion (GO:0005739) GTP binding (GO:0005525) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTTGGCCTCCATGGCCCTGG 0.713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471053 HGNC:30290 Approved gene with protein product protein-coding gene RBJ "rab and DnaJ domain containing", "DnaJ (Hsp40) homolog, subfamily C, member 27" RabJS 2p23.3 2015-11-19 2008-08-20 2015-11-19 ENSG00000115137 14980719 NM_016544 584 DNAJ (HSP40) heat shock proteins CCDS1716, CCDS74493 OTTHUMG00000125524 613527 NM_001198559 Q9NZQ0 ENSG00000115137 uc002rft.2 Q5JV88|Q86Y24 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51277 false 1460DRC1 92749 __UNKNOWN__ hg19 2 26679385 26679385 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:26679385A>C ENST00000288710.2 + 17 2297 c.2223A>C c.(2221-2223)tgA>tgC p.*741C NM_145038.2 NP_659475.2 Q96MC2 DRC1_HUMAN dynein regulatory complex subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285) axoneme (GO:0005930)|cytoskeleton (GO:0005856) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACAAAATGAGCTGGACCGC 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL833892 HGNC:24245 Approved gene with protein product protein-coding gene C2orf39, CCDC164 "chromosome 2 open reading frame 39", "coiled-coil domain containing 164", "dynein regulatory complex subunit 1 homolog (Chlamydomonas)" MGC16372, FLJ32660, CILD21 2p23.3 2014-11-19 2013-03-14 2014-07-18 AL833892 ENSG00000157856 23354437 NM_145038 981 Dynein regulatory complex CCDS1723 OTTHUMG00000125531 615288 NM_145038 Q96MC2 ENSG00000157856 uc002rhg.2 A8K1N8|Q53R91|Q53TA3|Q8NDI5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 92749 false 1461GPN1 11321 __UNKNOWN__ hg19 2 27870801 27870802 + Frame_Shift_Ins INS - - GC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:27870801_27870802insGC ENST00000610189.1 + 13 1037 c.1030_1031insGC c.(1030-1032)gacfs p.D344fs GPN1_ENST00000264718.3_Frame_Shift_Ins_p.D358fs|GPN1_ENST00000424214.1_Frame_Shift_Ins_p.D265fs|GPN1_ENST00000515877.1_Frame_Shift_Ins_p.D265fs|GPN1_ENST00000458167.2_Frame_Shift_Ins_p.D249fs|GPN1_ENST00000407583.3_Frame_Shift_Ins_p.D332fs|GPN1_ENST00000503738.1_Frame_Shift_Ins_p.D249fs NM_007266.3 NP_009197.2 GPN-loop GTPase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ central_nervous_system(22)|kidney(92)|lung(2) 116 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGACATTGACCACAGAGG 0.4575 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471053 HGNC:17030 Approved gene with protein product protein-coding gene XAB1 "XPA binding protein 1", "XPA binding protein 1, GTPase" NTPBP, MBDIN, ATPBD1A, RPAP4 "RNA polymerase II associated protein 4" 2p23.3 2014-11-19 2008-04-30 2008-04-30 AB044661 ENSG00000198522 11058119, 11124703 NM_007266 578 GPN-loop GTPases CCDS1760, CCDS46248, CCDS46249, CCDS46250 OTTHUMG00000097784 611479 NM_001145047 Q9HCN4 ENSG00000198522 uc061hra.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11321 false 1462TRMT61B 55006 __UNKNOWN__ hg19 2 29093143 29093143 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:29093143T>C ENST00000306108.5 - 1 25 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_017910.3 NP_060380.3 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260) mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515) tRNA (adenine-N1-)-methyltransferase activity (GO:0016429) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCATTAGCATAGTGTTTCGC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471053 HGNC:26070 Approved gene with protein product protein-coding gene "tRNA methyltransferase 61 homolog B (S. cerevisiae)" FLJ20628 2p23.2 2014-11-19 2014-11-17 BC010365 ENSG00000171103 11230166, 23097428 NM_017910 1400 Seven-beta-strand methyltransferase motif containing CCDS1768 OTTHUMG00000128433 NM_017910 Q9BVS5 ENSG00000171103 uc002rmm.5 Q9H0Q9|Q9NWS7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55006 false 1463TSPYL6 388951 __UNKNOWN__ hg19 2 54483287 54483287 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:54483287A>G ENST00000317802.7 - 1 123 c.2T>C c.(1-3)aTg>aCg p.M1T ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY like 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleosome assembly (GO:0006334) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|soft_tissue(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGAGGCTCATGTTGGTAGC 0.6034912718204489 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC068576 HGNC:14521 Approved gene with protein product protein-coding gene 2p16.2 2016-10-05 2016-07-01 AK097417 ENSG00000178021 XM_371494 CCDS42682 OTTHUMG00000151823 NM_001003937 Q8N831 ENSG00000178021 uc002rxr.3 Q6NUJ3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388951 false 1464TSPYL6 388951 __UNKNOWN__ hg19 2 54483288 54483288 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:54483288T>C ENST00000317802.7 - 1 122 c.1A>G c.(1-3)Atg>Gtg p.M1V ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron NM_001003937.2 NP_001003937.2 Q8N831 TSYL6_HUMAN TSPY like 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleosome assembly (GO:0006334) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|soft_tissue(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGAGGCTCATGTTGGTAGCG 0.600997506234414 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC068576 HGNC:14521 Approved gene with protein product protein-coding gene 2p16.2 2016-10-05 2016-07-01 AK097417 ENSG00000178021 XM_371494 CCDS42682 OTTHUMG00000151823 NM_001003937 Q8N831 ENSG00000178021 uc002rxr.3 Q6NUJ3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 388951 false 1465C2orf73 129852 __UNKNOWN__ hg19 2 54558114 54558114 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:54558114T>C ENST00000398634.2 + 1 44 c.2T>C c.(1-3)aTg>aCg p.M1T C2orf73_ENST00000405749.1_START_CODON_SNP_p.M1T|C2orf73_ENST00000491538.1_5'Flank NM_001100396.1 NP_001093866.1 Q8N5S3 CB073_HUMAN chromosome 2 open reading frame 73 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGAGGCCCATGGAGGAAAAG 0.5660847880299252 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471053 HGNC:26861 Approved gene with protein product protein-coding gene FLJ40298 2p16.2 2017-08-04 BC031669, AK097617 ENSG00000177994 14702039 NM_001100396 CCDS46285 OTTHUMG00000151826 NM_001100396 Q8N5S3 ENSG00000177994 uc002rxt.1 A0AV79|A0AV81|Q8N7V4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 129852 false 1466ATP6V1B1 525 __UNKNOWN__ hg19 2 71163086 71163086 + START_CODON_SNP SNP T T C 11681642 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:71163086T>C ENST00000234396.4 + 1 75 c.2T>C c.(1-3)aTg>aCg p.M1T ATP6V1B1_ENST00000412314.1_START_CODON_SNP_p.M1T NM_001692.3 NP_001683.2 P15313 VATB1_HUMAN ATPase H+ transporting V1 subunit B1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP hydrolysis coupled proton transport (GO:0015991)|ATP metabolic process (GO:0046034)|calcium ion homeostasis (GO:0055074)|cellular iron ion homeostasis (GO:0006879)|excretion (GO:0007588)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|ossification (GO:0001503)|pH reduction (GO:0045851)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|regulation of pH (GO:0006885)|sensory perception of sound (GO:0007605)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lateral plasma membrane (GO:0016328)|microvillus (GO:0005902)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuolar proton-transporting V-type ATPase complex (GO:0016471) ATP binding (GO:0005524)|hydrogen ion transmembrane transporter activity (GO:0015078)|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACTGCTCCATGGCCATGGAG 0.6508728179551122 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M25809 HGNC:853 Approved gene with protein product protein-coding gene VPP3, ATP6B1 "vacuolar proton pump 3", "ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1" VATB, RTA1B, Vma2 "Renal tubular acidosis with deafness" 2p13.3 2016-10-05 2002-05-10 2016-02-11 AF107466 3.6.3.14 ENSG00000116039 9916796, 2527371 NM_001692 415 V-type ATPases CCDS1912 OTTHUMG00000129711 192132 NM_001692 P15313 ENSG00000116039 uc002shj.4 Q53FY0|Q6P4H6 true false 0.6312,0.3688 false false 1 false true true ATP6V1B1:525 true true false true true false false false false false false true false false false true true false false true false false 0 true 0 false false false false SNV 0x050128000a05170537000100 1 false 120 rs11681642 525 71163086 true 1467CCDC142 84865 __UNKNOWN__ hg19 2 74709963 74709963 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:74709963A>G ENST00000290418.4 - 1 161 c.2T>C c.(1-3)aTg>aCg p.M1T CCDC142_ENST00000393965.3_START_CODON_SNP_p.M1T|TTC31_ENST00000233623.5_5'Flank|TTC31_ENST00000410003.1_5'Flank|TTC31_ENST00000442235.2_5'Flank|CCDC142_ENST00000471713.1_Intron|TTC31_ENST00000463189.1_5'Flank Q17RM4 CC142_HUMAN coiled-coil domain containing 142 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCCTGGGCCATGGGGCGGCG 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC143398 HGNC:25889 Approved gene with protein product protein-coding gene FLJ14397 2p13.1 2014-11-19 AK075543 ENSG00000135637 NM_032779 CCDS1945 OTTHUMG00000129962 NM_032779 Q17RM4 ENSG00000135637 uc002slq.4 B7ZKV5|Q8NBJ3|Q8NBV2|Q96KA7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84865 false 1468DNAH6 1768 __UNKNOWN__ hg19 2 84777170 84777171 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:84777170_84777171insT ENST00000237449.6 + 8 1482 c.1474_1475insT c.(1474-1476)cctfs p.P492fs DNAH6_ENST00000389394.3_Frame_Shift_Ins_p.P492fs|DNAH6_ENST00000398278.2_Frame_Shift_Ins_p.P492fs Q9C0G6 DYH6_HUMAN dynein axonemal heavy chain 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) axonemal dynein complex (GO:0005858)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) biliary_tract(2)|central_nervous_system(45)|oesophagus(12)|pancreas(22) 81 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGAAGTCCCTGATAAAAA 0.36 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U61736 HGNC:2951 Approved gene with protein product protein-coding gene DNHL1 "dynein, axonemal, heavy polypeptide 6", "dynein heavy chain-like 1" Dnahc6, HL-2, FLJ37357 2p11.2 2016-03-02 2016-03-02 U61736 ENSG00000115423 8812413 NM_001370 536 Dyneins, axonemal CCDS46348 OTTHUMG00000128957 603336 NM_001370 Q9C0G6 ENSG00000115423 uc010fgb.3 A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1768 false 1469CAPG 822 __UNKNOWN__ hg19 2 85629266 85629266 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:85629266C>T ENST00000409921.1 - 2 70 c.3G>A c.(1-3)atG>atA p.M1I CAPG_ENST00000263867.4_START_CODON_SNP_p.M1I|CAPG_ENST00000409670.1_START_CODON_SNP_p.M1I|CAPG_ENST00000409724.1_START_CODON_SNP_p.M1I|CAPG_ENST00000483659.1_5'Flank Q9BPX3 CND3_HUMAN capping actin protein, gelsolin like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076) actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|kidney(92)|lung(1)|pancreas(22) 161 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGCTGTGTACATGCTGTCTT 0.5261845386533666 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U12026 HGNC:1474 Approved gene with protein product protein-coding gene AFCP "capping protein (actin filament), gelsolin-like" MCP "macrophage capping protein" 2p11.2 2016-01-18 2016-01-18 M94345 ENSG00000042493 1322908, 12754261 NM_001747 950 Gelsolin/villins CCDS1974, CCDS58715 OTTHUMG00000130183 153615 NM_001256139 P40121 ENSG00000042493 uc061lgh.1 Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 822 false 1470RNF103 7844 __UNKNOWN__ hg19 2 86849962 86849963 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:86849962_86849963insC ENST00000237455.4 - 1 1017 c.47_48insG c.(46-48)ttcfs p.F16fs RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_Intron NM_005667.3 NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCAGGACGAACAGGACCA 0.6125 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D76444 HGNC:12859 Approved gene with protein product protein-coding gene ZFP103 "zinc finger protein 103 homolog (mouse)" hkf-1, KF1 2p11.2 2014-11-19 2003-05-16 2003-05-14 D76444 ENSG00000239305 9070305 NM_005667 58 Ring finger proteins CCDS33237 OTTHUMG00000153197 602507 NM_001198951 O00237 ENSG00000239305 uc002srn.4 A6NFV6|B2RAG4|Q53SU6|Q8IVB9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7844 false 1471STARD7 56910 __UNKNOWN__ hg19 2 96859067 96859068 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:96859067_96859068insC ENST00000337288.5 - 4 957 c.572_573insG c.(571-573)aaafs p.W192fs STARD7_ENST00000462501.1_Intron NM_020151.3 NP_064536.2 Q9NQZ5 STAR7_HUMAN StAR related lipid transfer domain containing 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitochondrion (GO:0005739) lipid binding (GO:0008289) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCATCCCATTTTTTTCTAT 0.4125 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471207 HGNC:18063 Approved gene with protein product protein-coding gene "START domain containing 7" GTT1 2q11.2 2016-10-05 2015-11-20 AF270647 ENSG00000084090 759 StAR related lipid transfer domain containing CCDS2017 OTTHUMG00000130457 616712 NM_020151 Q9NQZ5 ENSG00000084090 uc002svm.6 D3DXG9|Q53T44|Q6GU43|Q969M6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56910 false 1472NMS 129521 __UNKNOWN__ hg19 2 101086951 101086951 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:101086951A>G ENST00000376865.1 + 1 8 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ neuropeptide signaling pathway (GO:0007218) extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACTCTCACAATGAAACATCT 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AB164464 HGNC:32203 Approved gene with protein product protein-coding gene "prepro-NMS" 2q11.2 2014-11-19 AB164464 ENSG00000204640 15635449 NM_001011717 542 Endogenous ligands CCDS33259 OTTHUMG00000153142 NM_001011717 Q5H8A3 ENSG00000204640 uc002tan.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 129521 false 1473NMS 129521 __UNKNOWN__ hg19 2 101086952 101086952 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:101086952T>C ENST00000376865.1 + 1 9 c.2T>C c.(1-3)aTg>aCg p.M1T NM_001011717.1 NP_001011717.1 Q5H8A3 NMS_HUMAN neuromedin S __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ neuropeptide signaling pathway (GO:0007218) extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTCTCACAATGAAACATCTT 0.5536159600997507 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AB164464 HGNC:32203 Approved gene with protein product protein-coding gene "prepro-NMS" 2q11.2 2014-11-19 AB164464 ENSG00000204640 15635449 NM_001011717 542 Endogenous ligands CCDS33259 OTTHUMG00000153142 NM_001011717 Q5H8A3 ENSG00000204640 uc002tan.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 129521 false 1474IL1RL2 8808 __UNKNOWN__ hg19 2 102804330 102804330 + START_CODON_SNP SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:102804330G>C ENST00000264257.2 + 2 129 c.3G>C c.(1-3)atG>atC p.M1I IL1RL2_ENST00000539491.1_START_CODON_SNP_p.M1I|IL1RL2_ENST00000441515.2_Missense_Mutation_p.C28S|IL1RL2_ENST00000481806.1_Intron NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor like 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165) integral component of plasma membrane (GO:0005887) interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTTGGGGATGTGGTCCTTGC 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U49065 HGNC:5999 Approved gene with protein product protein-coding gene IL1R-rp2, IL1RRP2 2q12.1 2016-10-05 2016-01-12 U49065 ENSG00000115598 8898719, 10191101, 11466363 NM_003854 594|602|1296 Immunoglobulin like domain containing|Interleukin receptors|TIR domain containing CCDS2056 OTTHUMG00000130776 604512 NM_003854 Q9HB29 ENSG00000115598 uc002tbs.4 A4FU63|Q13525|Q45H74|Q53TU8|Q587I8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8808 false 1475SULT1C3 442038 __UNKNOWN__ hg19 2 108863652 108863652 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:108863652T>C ENST00000329106.2 + 1 2 c.2T>C c.(1-3)aTg>aCg p.M1T SULT1C3_ENST00000376700.1_START_CODON_SNP_p.M1T NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family 1C member 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ sulfur compound metabolic process (GO:0006790) cytoplasm (GO:0005737) alcohol sulfotransferase activity (GO:0004027)|aryl sulfotransferase activity (GO:0004062) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGATTCCCAATGGCGAAGATT 0.32917705735660846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BK001432 HGNC:33543 Approved gene with protein product protein-coding gene "sulfotransferase family, cytosolic, 1C, member 3" 2q12.3 2015-11-06 2015-11-06 BC146362 ENSG00000196228 14676822, 17425406 NM_001008743 762 Sulfotransferases, cytosolic CCDS33267 OTTHUMG00000153227 617151 NM_001008743 Q6IMI6 ENSG00000196228 uc010ywo.2 Q6IMI5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 442038 false 1476GCC2 9648 __UNKNOWN__ hg19 2 109087292 109087293 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:109087292_109087293insG ENST00000309863.6 + 6 2221 c.1507_1508insG c.(1507-1509)caafs p.Q503fs NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147) cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802) identical protein binding (GO:0042802) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAATAAGTCAAGAGTTCGA 0.35 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471182 HGNC:23218 Approved gene with protein product protein-coding gene "GRIP and coiled-coil domain-containing 2" GCC185, KIAA0336 2q12.3 2015-08-25 2004-03-05 BC020645 ENSG00000135968 12446665 NM_014635 CCDS33268 OTTHUMG00000153214 612711 NM_181453 Q8IWJ2 ENSG00000135968 uc002tec.4 A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9648 false 1477IL36A 27179 __UNKNOWN__ hg19 2 113765465 113765466 + Frame_Shift_Ins INS - - GA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:113765465_113765466insGA ENST00000259211.6 + 4 732 c.321_322insGA c.(322-324)tacfs p.Y108fs NM_014440.1 NP_055255.1 Q9UHA7 IL36A_HUMAN interleukin 36 alpha __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755) extracellular region (GO:0005576)|extracellular space (GO:0005615) interleukin-1 receptor binding (GO:0005149) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|skin(42) 132 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTCTCTTCTACCACAGCC 0.4625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BN000002 HGNC:15562 Approved gene with protein product protein-coding gene IL1F6 "interleukin 1 family, member 6 (epsilon)" FIL1, FIL1E, IL-1F6, IL1(EPSILON), MGC129553, MGC129552 2q14.1 2017-09-14 2011-06-06 2017-09-14 AF201831 ENSG00000136694 10625660 NM_014440 601 Interleukins CCDS42734 OTTHUMG00000153320 605509 NM_014440 Q9UHA7 ENSG00000136694 uc010yxr.3 B2RAD9|Q53SR7|Q5BLR4|Q7RTZ8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 27179 false 1478RAB3GAP1 22930 __UNKNOWN__ hg19 2 135926351 135926351 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:135926351A>G ENST00000264158.8 + 24 2989 c.2946A>G c.(2944-2946)tgA>tgG p.*982W RAB3GAP1_ENST00000442034.1_Nonstop_Mutation_p.*989W|RAB3GAP1_ENST00000539493.1_Intron|RAB3GAP1_ENST00000487003.1_Intron|ZRANB3_ENST00000412849.1_Intron NM_012233.2 NP_036365.1 Q15042 RB3GP_HUMAN RAB3 GTPase activating protein catalytic subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172) cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234) Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(7) 99 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTTCTTCTGATTCTTCTAGC 0.5586034912718204 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D31886 HGNC:17063 Approved gene with protein product protein-coding gene "RAB3 GTPase activating protein subunit 1 (catalytic)" RAB3GAP, KIAA0066, RAB3GAP130, WARBM1 2q21.3 2015-11-18 2015-11-18 D31886 ENSG00000115839 9030515, 15696165 NM_012233 CCDS33294, CCDS54402 OTTHUMG00000154889 602536 NM_001172435 Q15042 ENSG00000115839 uc002tuj.4 A6H8Z3|C9J837|Q659F5|Q8TBB4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22930 false 1479LYPD6 130574 __UNKNOWN__ hg19 2 150294223 150294223 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:150294223A>G ENST00000334166.4 + 2 258 c.1A>G c.(1-3)Atg>Gtg p.M1V LYPD6_ENST00000409381.1_START_CODON_SNP_p.M1V NM_194317.3 NP_919298.1 Q86Y78 LYPD6_HUMAN LY6/PLAUR domain containing 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGTCTGCCATGGAACCTGG 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471058 HGNC:28751 Approved gene with protein product protein-coding gene MGC52057 2q23.2 2014-11-19 BC047013 ENSG00000187123 12477932 NM_194317 1226 LY6/PLAUR domain containing CCDS2188 OTTHUMG00000131852 613359 NM_001195685 Q86Y78 ENSG00000187123 uc021vqt.2 B3KWC0|Q4G121|Q53TR3|Q659B1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 130574 false 1480NEB 4703 __UNKNOWN__ hg19 2 152511831 152511832 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:152511831_152511832insC ENST00000604864.1 - 49 6760 c.6759_6760insG c.(6760-6762)acafs p.T2254fs NEB_ENST00000603639.1_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.T2254fs|NEB_ENST00000172853.10_Frame_Shift_Ins_p.T2254fs P20929 NEBU_HUMAN nebulin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525) actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018) structural constituent of muscle (GO:0008307) biliary_tract(2)|breast(32)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(25)|kidney(1)|large_intestine(35)|pancreas(22)|upper_aerodigestive_tract(1) 162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATCTGGTGTATCAGGCATC 0.295 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC116650 HGNC:7720 Approved gene with protein product protein-coding gene NEM2 NEB177D "nemaline myopathy type 2" 2q23.3 2017-03-24 X83957 ENSG00000183091 10051637, 9359044 NM_004543 CCDS46424, CCDS54407, CCDS54408, CCDS74588 OTTHUMG00000153784 161650 NM_001164507 P20929 ENSG00000183091 uc031rpp.1 F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4703 false 1481XIRP2 129446 __UNKNOWN__ hg19 2 167759994 167759994 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:167759994T>C ENST00000409728.1 + 2 91 c.2T>C c.(1-3)aTg>aCg p.M1T XIRP2_ENST00000409043.1_START_CODON_SNP_p.M1T|XIRP2_ENST00000409195.1_START_CODON_SNP_p.M1T|XIRP2_ENST00000420519.1_START_CODON_SNP_p.M1T|XIRP2_ENST00000409756.2_START_CODON_SNP_p.M1T|XIRP2_ENST00000295237.9_START_CODON_SNP_p.M1T NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin binding repeat containing 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281) cell junction (GO:0030054)|Z disc (GO:0030018) biliary_tract(4)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|lung(1)|oesophagus(12)|pancreas(22) 209 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACCCATCCATGTTCCCAATG 0.45885286783042395 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF119722 HGNC:14303 Approved gene with protein product protein-coding gene CMYA3 "cardiomyopathy associated 3" "myomaxin" 2q24.3 2016-10-05 2007-06-27 2015-04-29 AK056582 ENSG00000163092 17046827, 12203715, 15454575 NM_152381 1218 LIM domain containing CCDS42768, CCDS42769, CCDS56143, CCDS56144, CCDS56145 OTTHUMG00000154027 609778 NM_001079810 A4UGR9 ENSG00000163092 uc002udx.4 A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 129446 false 1482SPC25 57405 __UNKNOWN__ hg19 2 169727989 169727990 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169727989_169727990insT ENST00000282074.2 - 7 769 c.626_627insA c.(625-627)gctfs p.L211fs NM_020675.3 NP_065726.1 Q9HBM1 SPC25_HUMAN SPC25, NDC80 kinetochore complex component __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052) condensed chromosome kinetochore (GO:0000777)|cytosol (GO:0005829)|Ndc80 complex (GO:0031262)|nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCAAGAAAAGCTGAAAAAT 0.31 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457197 HGNC:24031 Approved gene with protein product protein-coding gene SPBC25 "spindle pole body component 25 homolog (S. cerevisiae)", "SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae)" MGC22228, AD024 2q31.1 2017-11-28 2007-03-02 2013-06-05 AF225416 ENSG00000152253 15961401 NM_020675 1573 NDC80 kinetochore complex CCDS2229 OTTHUMG00000132181 609395 NM_020675 Q9HBM1 ENSG00000152253 uc002uel.4 A8K4X8|D3DPC0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57405 false 1483DHRS9 10170 __UNKNOWN__ hg19 2 169923213 169923213 + DE_NOVO_START_OUT_FRAME SNP C C T 16856426 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169923213C>T ENST00000602501.1 + 2 DHRS9_ENST00000327239.4_DE_NOVO_START_IN_FRAME|DHRS9_ENST00000357546.2_5'Flank|DHRS9_ENST00000421653.1_5'Flank|DHRS9_ENST00000428522.1_5'Flank|DHRS9_ENST00000432060.2_5'Flank Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572) integral component of endoplasmic reticulum membrane (GO:0030176) alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CACTTTTCAACGCAGGACCTC 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471058 HGNC:16888 Approved gene with protein product protein-coding gene "dehydrogenase/reductase (SDR family) member 9" RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4 "NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4" 2q31.1 2016-05-27 2016-05-27 AF067174 ENSG00000073737 11304534, 11294878, 19027726 NM_005771 743 Short chain dehydrogenase/reductase superfamily CCDS2231, CCDS74600 OTTHUMG00000132180 612131 NM_001142270 Q9BPW9 ENSG00000073737 uc061phg.1 B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0 true false 0.9796,.,0.02037 false false 1 false true false DHRS9:10170 false true false true true false false false false false false false false false false false false false true false false false 0 true 0 false 0.997733,.,0.00226664 false false true SNV 0x050100420005150436000100 1 false 123 rs16856426 10170 169923213 true 1484DHRS9 10170 __UNKNOWN__ hg19 2 169926086 169926086 + DE_NOVO_START_OUT_FRAME SNP C C T 11889286 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:169926086C>T ENST00000357546.2 + 2 DHRS9_ENST00000428522.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000327239.4_Intron|DHRS9_ENST00000602501.1_Intron|DHRS9_ENST00000421653.1_DE_NOVO_START_OUT_FRAME|DHRS9_ENST00000432060.2_Intron|DHRS9_ENST00000436483.2_5'Flank NM_199204.1 NP_954674.1 Q9BPW9 DHRS9_HUMAN dehydrogenase/reductase 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572) integral component of endoplasmic reticulum membrane (GO:0030176) alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAGCTCTACGGAAACCCAG 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471058 HGNC:16888 Approved gene with protein product protein-coding gene "dehydrogenase/reductase (SDR family) member 9" RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4 "NADP-dependent retinol dehydrogenase/reductase", "3-alpha hydroxysteroid dehydrogenase", "retinol dehydrogenase homolog", "short chain dehydrogenase/reductase family 9C, member 4" 2q31.1 2016-05-27 2016-05-27 AF067174 ENSG00000073737 11304534, 11294878, 19027726 NM_005771 743 Short chain dehydrogenase/reductase superfamily CCDS2231, CCDS74600 OTTHUMG00000132180 612131 NM_001142270 Q9BPW9 ENSG00000073737 uc061phg.1 B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0 true false 0.9786,0.02137 false false 1 false true false DHRS9:10170 true true true true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.971118,0.0288825 false false true SNV 0x05010048000515053f000100 1 false 120 rs11889286 10170 169926086 true 1485CHRNA1 1134 __UNKNOWN__ hg19 2 175614897 175614898 + Splice_Site INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:175614897_175614898insT ENST00000409219.1 - 7 797 c.778_779insA c.(778-780)gggfs p.G260fs CHRNA1_ENST00000348749.5_Splice_Site_p.G260fs|CHRNA1_ENST00000261007.5_Splice_Site_p.G285fs|CHRNA1_ENST00000409542.1_Splice_Site_p.G178fs|AC018890.6_ENST00000442996.1_RNA P02708 ACHA_HUMAN cholinergic receptor nicotinic alpha 1 subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Galantamine(DB00674) ATCTTCTCCCCTGAAAAGAC 0.4625 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_INS AC018890 HGNC:1955 Approved gene with protein product protein-coding gene CHRNA "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)", "cholinergic receptor, nicotinic, alpha 1 (muscle)", "cholinergic receptor, nicotinic alpha 1" "acetylcholine receptor, nicotinic, alpha 1 (muscle)" 2q31.1 2016-02-04 2016-02-04 Y00762 ENSG00000138435 173 Cholinergic receptors nicotinic subunits CCDS2261, CCDS33331 OTTHUMG00000132357 100690 NM_000079 P02708 ENSG00000138435 uc002uje.3 B4DRV6|D3DPE8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1134 false 1486CHRNA1 1134 __UNKNOWN__ hg19 2 175629122 175629122 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:175629122T>C ENST00000409219.1 - 1 19 c.1A>G c.(1-3)Atg>Gtg p.M1V CHRNA1_ENST00000348749.5_START_CODON_SNP_p.M1V|CHRNA1_ENST00000261007.5_START_CODON_SNP_p.M1V|CHRNA1_ENST00000409323.1_START_CODON_SNP_p.M1V|CHRNA1_ENST00000409542.1_START_CODON_SNP_p.M1V|AC018890.6_ENST00000442996.1_RNA P02708 ACHA_HUMAN cholinergic receptor nicotinic alpha 1 subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810) acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211) acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Galantamine(DB00674) CAGGGCTCCATGGGCTACCGG 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC018890 HGNC:1955 Approved gene with protein product protein-coding gene CHRNA "cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)", "cholinergic receptor, nicotinic, alpha 1 (muscle)", "cholinergic receptor, nicotinic alpha 1" "acetylcholine receptor, nicotinic, alpha 1 (muscle)" 2q31.1 2016-02-04 2016-02-04 Y00762 ENSG00000138435 173 Cholinergic receptors nicotinic subunits CCDS2261, CCDS33331 OTTHUMG00000132357 100690 NM_000079 P02708 ENSG00000138435 uc002uje.3 B4DRV6|D3DPE8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1134 false 1487TTC30B 150737 __UNKNOWN__ hg19 2 178415667 178415668 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:178415667_178415668insC ENST00000408939.3 - 1 2076 c.1824_1825insG c.(1825-1827)attfs p.I609fs NM_152517.2 NP_689730.2 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cilium assembly (GO:0042384)|intraciliary transport (GO:0042073) cilium (GO:0005929)|intraciliary transport particle B (GO:0030992) kidney(88) 88 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCTTGAATAACACTATCA 0.365 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471058 HGNC:26425 Approved gene with protein product protein-coding gene FLJ30990, fleer, IFT70B 2q31.2 2015-08-26 AK055552 ENSG00000196659 12477932 NM_152517 615|769 Intraflagellar transport proteins|Tetratricopeptide repeat domain containing CCDS42784 OTTHUMG00000154166 NM_152517 Q8N4P2 ENSG00000196659 uc002uln.4 Q63HQ1|Q96NE6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 150737 false 1488ITGAV 3685 __UNKNOWN__ hg19 2 187487140 187487141 + In_Frame_Ins INS - - CCT 762770151 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:187487140_187487141insCCT ENST00000261023.3 + 3 665 c.391_392insCCT c.(391-393)aaa>aCCTaa p.K131T* ITGAV_ENST00000374907.3_In_Frame_Ins_p.K131T*|ITGAV_ENST00000433736.2_In_Frame_Ins_p.K85T* NM_002210.4 NP_002201.1 P06756 ITAV_HUMAN integrin subunit alpha V __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718) alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587) extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(180)|large_intestine(12)|lung(2)|pancreas(22)|soft_tissue(1) 274 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Antithymocyte globulin(DB00098) GTGAGGTCGAAACAGGATAA 0.3675 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Melanoma(58;108 1995 6081) U07375 HGNC:6150 Approved gene with protein product protein-coding gene VNRA, MSK8, VTNR "antigen identified by monoclonal antibody L230", "vitronectin receptor", "integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)", "integrin, alpha V" CD51 2q32.1 2016-10-05 2015-12-15 ENSG00000138448 2454952 NM_002210 1160|471 Integrin alpha subunits|CD molecules CCDS2292, CCDS46470, CCDS46471 OTTHUMG00000132635 193210 NM_001144999 P06756 ENSG00000138448 uc002upq.5 A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15 true false false false false false false ITGAV:3685 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000000005000402000200 1 false 144 rs762770151 3685 187487140 false 1489ZSWIM2 151112 __UNKNOWN__ hg19 2 187692863 187692864 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:187692863_187692864insA ENST00000295131.2 - 9 1790 c.1749_1750insT c.(1750-1752)agcfs p.S584fs NM_182521.2 NP_872327.2 Q8NEG5 ZSWM2_HUMAN zinc finger SWIM-type containing 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|protein polyubiquitination (GO:0000209) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGCTGTGCTCCAATTGACA 0.345 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471058 HGNC:30990 Approved gene with protein product protein-coding gene MGC33890, ZZZ2, MEX 2q32.1 2017-11-28 2016-02-15 AK128006 ENSG00000163012 16522193 NM_182521 91|90 Zinc fingers ZZ-type|Zinc fingers SWIM-type CCDS33348 OTTHUMG00000154259 NM_182521 Q8NEG5 ENSG00000163012 uc002upu.2 B3KXV6|Q53SI3|Q57ZY3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 151112 false 1490HIBCH 26275 __UNKNOWN__ hg19 2 191184475 191184475 + START_CODON_SNP SNP A A G 291466 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:191184475A>G ENST00000359678.5 - 1 297 c.2T>C c.(1-3)aTg>aCg p.M1T HIBCH_ENST00000392332.3_START_CODON_SNP_p.M1T NM_198047.2 NP_932164.1 Q6NVY1 HIBCH_HUMAN 3-hydroxyisobutyryl-CoA hydrolase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574) extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759) 3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGCTGCCCCATCGCCAAACA 0.6633416458852868 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U66669 HGNC:4908 Approved gene with protein product protein-coding gene "3-hydroxyisobutyryl-Coenzyme A hydrolase" 2q32.2 2016-10-05 2010-04-29 U66669 3.1.2.4 ENSG00000198130 8824301 CCDS2304, CCDS46475 OTTHUMG00000132673 610690 NM_014362 Q6NVY1 ENSG00000198130 uc002uru.3 D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94 true false 0.5683,0.4317 false false 1 false true true HIBCH:26275 true true false true true false false false false false false true false false false false false false false true false false 0 true 0 false 0.490041,0.509959 false false false SNV 0x050100000a0517053f000101 1 false 79 rs291466 26275 191184475 true 1491HECW2 57520 __UNKNOWN__ hg19 2 197208381 197208381 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:197208381G>A ENST00000409111.1 - 2 HECW2_ENST00000260983.3_Splice_Site_p.P134S Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787) cytoplasm (GO:0005737)|nucleus (GO:0005634) ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842) biliary_tract(2)|breast(186)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(137)|ovary(58)|pancreas(30)|prostate(58) 706 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTTACTTACGTTCCATGAAA 0.3117206982543641 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749424 HGNC:29853 Approved gene with protein product protein-coding gene KIAA1301, NEDL2 2q32.3 2015-08-25 AL390186 ENSG00000138411 10718198, 12890487 NM_020760 823 C2 domain containing CCDS33354, CCDS77499 OTTHUMG00000154435 617245 NM_001304840 Q9P2P5 ENSG00000138411 uc002utm.2 B8ZZB4|Q17RT5|Q68DF8|Q9NPS9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57520 false 1492CASP8 841 __UNKNOWN__ hg19 2 202122956 202122956 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:202122956T>C ENST00000358485.4 + 1 198 c.2T>C c.(1-3)aTg>aCg p.M1T CASP8_ENST00000264275.5_Intron|CASP8_ENST00000432109.2_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000323492.7_5'Flank NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032) CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342) cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625) NS(200)|autonomic_ganglia(109)|biliary_tract(27)|bone(27)|breast(314)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(129)|kidney(92)|large_intestine(455)|liver(70)|lung(320)|ovary(60)|pancreas(30)|prostate(270)|salivary_gland(164)|soft_tissue(61)|stomach(263)|thyroid(18)|upper_aerodigestive_tract(226)|vulva(1) 2880 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGAGGCCATGGAGGGAGGC 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Melanoma(82;831 1348 20716 36952 40159) X98178 HGNC:1509 Approved gene with protein product protein-coding gene "caspase 8, apoptosis-related cysteine protease", "caspase 8, apoptosis-related cysteine peptidase" MCH5, MACH, FLICE, Casp-8 2q33.1 2017-03-24 2015-11-12 U60520 3.4.22.61 ENSG00000064012 8681376, 8681377 NM_001228 468|1019|1340|1342 Caspases|Death effector domain containing|Ripoptosome|Death inducing signaling complex CCDS2342, CCDS2343, CCDS2345, CCDS42798, CCDS42799 OTTHUMG00000132821 601763 NM_001080124 Q14790 ENSG00000064012 uc002uxt.2 O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 841 false 1493PTH2R 5746 __UNKNOWN__ hg19 2 209358383 209358383 + Nonstop_Mutation SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:209358383G>T ENST00000272847.2 + 13 1865 c.1652G>T c.(1651-1653)tGa>tTa p.*551L AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_Intron NM_005048.3 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G-protein coupled receptor signaling pathway (GO:0007186) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) parathyroid hormone receptor activity (GO:0004991) biliary_tract(2)|breast(174)|central_nervous_system(44)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 501 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Preotact(DB05829) GATGTTCTCTGAATGGACATT 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U47124 HGNC:9609 Approved gene with protein product protein-coding gene PTHR2 "parathyroid hormone receptor 2" 2q34 2016-10-05 2007-08-24 2007-08-24 BC036811 ENSG00000144407 NM_005048 270 Parathyroid hormone receptors CCDS2383, CCDS82565 OTTHUMG00000132960 601469 NM_001309516 P49190 ENSG00000144407 uc002vdb.5 Q8N429 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5746 false 1494PECR 55825 __UNKNOWN__ hg19 2 216946463 216946463 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:216946463A>G ENST00000265322.7 - 1 77 c.2T>C c.(1-3)aTg>aCg p.M1T TMEM169_ENST00000295658.4_5'Flank|TMEM169_ENST00000406027.2_5'Flank|TMEM169_ENST00000437356.2_5'Flank|TMEM169_ENST00000454545.1_5'Flank|PECR_ENST00000497889.1_Intron NM_018441.5 NP_060911.2 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ fatty acid biosynthetic process (GO:0006633)|oxidation-reduction process (GO:0055114)|phytol metabolic process (GO:0033306) intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) receptor binding (GO:0005102)|trans-2-enoyl-CoA reductase (NADPH) activity (GO:0019166) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Adenine(DB00173) CCAGGAGGCCATCCCTGCAGC 0.713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457145 HGNC:18281 Approved gene with protein product protein-coding gene HSA250303, TERP, SDR29C1 "short chain dehydrogenase/reductase family 29C, member 1" 2q35 2014-11-19 AF119841 1.3.1.38 ENSG00000115425 10811639, 11669066, 19027726 NM_018441 743 Short chain dehydrogenase/reductase superfamily CCDS33375 OTTHUMG00000154825 605843 NM_018441 Q9BY49 ENSG00000115425 uc002vft.4 B2RE42|Q53TC4|Q6IAK9|Q9NRD4|Q9NY60|Q9P1A4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55825 false 1495CXCR1 3577 __UNKNOWN__ hg19 2 219029932 219029932 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:219029932C>T ENST00000295683.2 - 2 124 c.3G>A c.(1-3)atG>atA p.M1I NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN C-X-C motif chemokine receptor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell surface receptor signaling pathway (GO:0007166)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|dendritic cell chemotaxis (GO:0002407)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|interleukin-8-mediated signaling pathway (GO:0038112)|receptor internalization (GO:0031623) integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886) chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|interleukin-8 binding (GO:0019959)|interleukin-8 receptor activity (GO:0004918) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(136)|ovary(58)|pancreas(30)|prostate(58) 616 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ketoprofen(DB01009) TAATATTTGACATGTCCTCTT 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X65858 HGNC:6026 Approved gene with protein product protein-coding gene CMKAR1, IL8RA "interleukin 8 receptor, alpha", "chemokine (C-X-C motif) receptor 1" CKR-1, CDw128a, CD181 2q35 2016-03-14 2009-11-25 2016-03-14 U11870 ENSG00000163464 1303245, 1427896 NM_000634 471|1094|602 CD molecules|C-X-C motif chemokine receptors|Interleukin receptors CCDS2409 OTTHUMG00000133108 146929 NM_000634 P25024 ENSG00000163464 uc002vhc.4 B2R6Q3|Q2YEF8|Q2YEG4|Q2YEG5|Q2YEG7|Q2YEG8|Q53R18|Q6IN95|Q8N6T6|Q9P2T8|Q9P2T9|Q9P2U0|Q9P2U1|Q9P2U2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3577 false 1496STK11IP 114790 __UNKNOWN__ hg19 2 220462640 220462640 + DE_NOVO_START_IN_FRAME SNP G G T 681747 byFrequency;by1000genomes __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:220462640G>T ENST00000456909.1 + 1 STK11IP_ENST00000295641.10_Missense_Mutation_p.R1M|STK11IP_ENST00000459692.1_5'Flank Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein localization (GO:0008104) cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765) protein kinase binding (GO:0019901) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(70)|pancreas(22) 149 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGACGGGGAGGTTCGGTATG 0.6209476309226932 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC009955 HGNC:19184 Approved gene with protein product protein-coding gene LIP1, KIAA1898, LKB1IP, STK11IP1 "LKB1 interacting protein" 2q35 2014-11-19 AF450267 ENSG00000144589 11741830 NM_052902 CCDS46521 OTTHUMG00000059239 607172 NM_052902 Q8N1F8 ENSG00000144589 uc002vml.3 Q8NAW9|Q8WXE4|Q96CN3|Q96PY9 true false 0.1667,0.8333 false false 1 false true false STK11IP:114790 true true false true true false false false false false false false false false false false false false false false false false 0 true 0 false 0.236589,0.763411 false false true SNV 0x05010040000515053f000101 1 false 83 rs681747 114790 220462640 true 1497FAM124B 79843 __UNKNOWN__ hg19 2 225265759 225265760 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:225265759_225265760insT ENST00000409685.3 - 1 993 c.726_727insA c.(727-729)cttfs p.L243fs FAM124B_ENST00000389874.3_Frame_Shift_Ins_p.L243fs|FAM124B_ENST00000243806.2_Frame_Shift_Ins_p.L243fs NM_001122779.1 NP_001116251.1 Q9H5Z6 F124B_HUMAN family with sequence similarity 124 member B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATACCTGAAGCAGAATCTTG 0.4975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471063 HGNC:26224 Approved gene with protein product protein-coding gene "family with sequence similarity 124B" FLJ22746 2q36.2 2017-11-28 2015-11-05 AK075126 ENSG00000124019 23285124 NM_024785 CCDS2461, CCDS46527 OTTHUMG00000133168 NM_001122779 Q9H5Z6 ENSG00000124019 uc002vnx.4 A6NNC7|Q8NBZ4|Q8TAV7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79843 false 1498LRRFIP1 9208 __UNKNOWN__ hg19 2 238667455 238667456 + In_Frame_Ins INS - - TAA 752147133 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr2:238667455_238667456insTAA ENST00000308482.9 + 18 1377 c.1308_1309insTAA c.(1309-1311)gaa>TAAgaa p.436_437ins* LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000392000.4_Intron NM_001137550.1 NP_001131022.1 Q32MZ4 LRRF1_HUMAN LRR binding FLII interacting protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886) DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803) biliary_tract(2)|breast(148)|central_nervous_system(44)|large_intestine(37)|pancreas(22) 253 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTGAAAGAGGAATTAAAGG 0.3775 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U69609 HGNC:6702 Approved gene with protein product protein-coding gene "leucine rich repeat (in FLII) interacting protein 1" FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1 "GC-binding factor 2" 2q37.3 2016-06-20 2016-06-20 AJ223075 ENSG00000124831 9705290, 9525888, 16199883 NM_004735 CCDS2521, CCDS46551, CCDS46552, CCDS46553 OTTHUMG00000133339 603256 NM_001137550 Q32MZ4 ENSG00000124831 uc002vxd.4 E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607 true false false false false false false LRRFIP1:9208 false true true false false false false false false false false false false false false false false false false false false false 0 false 0 false false false false DIV 0x050000080005000402000200 1 false 144 rs752147133 9208 238667455 false 1499CLDN14 23562 __UNKNOWN__ hg19 21 37948710 37948710 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr21:37948710G>A ENST00000342108.2 - 1 NM_001146077.1 NP_001139549.1 O95500 CLD14_HUMAN claudin 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|protein complex assembly (GO:0006461)|tight junction assembly (GO:0070830) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCCACTCACCGTGCTGCTGTG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC012126 HGNC:2035 Approved gene with protein product protein-coding gene DFNB29 21q22.13 2016-10-05 AJ132445 ENSG00000159261 11163249 NM_144492 1152|488 Deafness associated genes|Claudins CCDS13645 OTTHUMG00000086638 605608 NM_001146077 O95500 ENSG00000159261 uc002yvo.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23562 false 1500TSPEAR 54084 __UNKNOWN__ hg19 21 45987803 45987803 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr21:45987803G>A ENST00000397916.1 - 2 TSPEAR_ENST00000323084.4_Missense_Mutation_p.R57W Q8WU66 TSEAR_HUMAN thrombospondin type laminin G domain and EAR repeats __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ sensory perception of sound (GO:0007605) cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420) biliary_tract(2)|breast(48)|central_nervous_system(127)|large_intestine(37)|pancreas(22) 236 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGGAGTCCCCGTGCACCGTGA 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471079 HGNC:1268 Approved gene with protein product protein-coding gene C21orf29, DFNB98 "chromosome 21 open reading frame 29", "deafness, autosomal recessive 98" MGC11251, TSP-EAR 21q22.3 2016-05-24 2011-01-25 2016-05-24 AJ487962 ENSG00000175894 12095917, 22678063 NM_144991 1152 Deafness associated genes CCDS13712, CCDS74801 OTTHUMG00000041215 612920 NM_001272037 Q8WU66 ENSG00000175894 uc002zfe.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54084 false 1501RGL4 266747 __UNKNOWN__ hg19 22 24034867 24034867 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr22:24034867C>T ENST00000401461.1 + 4 RGL4_ENST00000290691.5_Missense_Mutation_p.R129C|AP000347.2_ENST00000417194.1_RNA|GUSBP11_ENST00000455485.1_RNA|KB-1572G7.2_ENST00000421064.1_RNA Q8IZJ4 RGDSR_HUMAN ral guanine nucleotide dissociation stimulator like 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ small GTPase mediated signal transduction (GO:0007264) cytoplasmic vesicle (GO:0031410) guanyl-nucleotide exchange factor activity (GO:0005085) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(1) 184 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCTGCTCCACGTCCTGGGCA 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AP000347 HGNC:31911 Approved gene with protein product protein-coding gene Rgr "RalGDS related oncogene" 22q11.23 2016-03-14 2016-03-14 ENSG00000159496 9178890, 10851075 NM_153615 CCDS13811 OTTHUMG00000150711 612214 NM_153615 Q8IZJ4 ENSG00000159496 uc002zxn.4 Q495L8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 266747 false 1502PES1 23481 __UNKNOWN__ hg19 22 30983274 30983274 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr22:30983274G>A ENST00000405677.1 - 6 PES1_ENST00000354694.7_Splice_Site_p.R123W|PES1_ENST00000335214.6_Splice_Site_p.R123W|PES1_ENST00000402281.1_DE_NOVO_START_OUT_FRAME|PES1_ENST00000402284.3_Splice_Site_p.R123W NM_001282328.1 NP_001269257.1 pescadillo ribosomal biogenesis factor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGGCTCACCGTTCCTTGATG 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471095 HGNC:8848 Approved gene with protein product protein-coding gene "pescadillo (zebrafish) homolog 1, containing BRCT domain", "pescadillo homolog 1, containing BRCT domain (zebrafish)" PES, NOP7 22q12.2 2017-05-19 2012-02-23 U78310 ENSG00000100029 8985183, 10591208, 17353269 NM_014303 CCDS13880, CCDS58802, CCDS74842 OTTHUMG00000151077 605819 NM_001243225 O00541 ENSG00000100029 uc003aij.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23481 false 1503JAGN1 84522 __UNKNOWN__ hg19 3 9932407 9932407 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:9932407A>G ENST00000307768.4 + 1 170 c.1A>G c.(1-3)Atg>Gtg p.M1V JAGN1_ENST00000489724.1_Intron NM_032492.3 NP_115881.3 jagunal homolog 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCAGGCACAATGGCGTCTCG 0.7032418952618454 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471055 HGNC:26926 Approved gene with protein product protein-coding gene "jagunal homolog 1 (Drosophila)" GL009, FLJ14602 3p25.3 2016-10-05 2015-06-09 AK074760 ENSG00000171135 25129144 NM_032492 CCDS2588 OTTHUMG00000128523 616012 NM_032492 Q8N5M9 ENSG00000171135 uc003btt.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84522 false 1504VGLL4 9686 __UNKNOWN__ hg19 3 11643465 11643465 + DE_NOVO_START_IN_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:11643465T>C ENST00000413604.1 - 2 VGLL4_ENST00000430365.2_Missense_Mutation_p.I38M|VGLL4_ENST00000273038.3_Missense_Mutation_p.I32M|VGLL4_ENST00000404339.1_Missense_Mutation_p.I37M NM_001284391.1 NP_001271320.1 Q14135 VGLL4_HUMAN vestigial like family member 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCAGGGTCTGTATTCTGGGTT 0.5760598503740648 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ384470 HGNC:28966 Approved gene with protein product protein-coding gene "vestigial like 4 (Drosophila)", "vestigial-like family member 4" KIAA0121 3p25.3-p25.2 2017-06-08 2015-11-23 D50911 ENSG00000144560 8590280, 15140898 NM_014667 367 Vestigial like family CCDS2606, CCDS46754, CCDS46755, CCDS46756, CCDS68342, CCDS68343 OTTHUMG00000129739 NM_001128219 Q14135 ENSG00000144560 uc010hdx.3 B4DTS7|J3KN68|Q7L5V0|Q9BQ78 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9686 false 1505HACL1 26061 __UNKNOWN__ hg19 3 15643175 15643175 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:15643175G>A ENST00000321169.5 - 1 BTD_ENST00000449107.1_5'UTR|BTD_ENST00000303498.5_5'Flank|BTD_ENST00000383778.4_5'Flank|HACL1_ENST00000435217.2_5'Flank|BTD_ENST00000437172.1_5'Flank|HACL1_ENST00000451445.2_5'Flank|HACL1_ENST00000456194.2_5'Flank|HACL1_ENST00000457447.2_5'Flank NM_012260.2 NP_036392.2 Q9UJ83 HACL1_HUMAN 2-hydroxyacyl-CoA lyase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular lipid metabolic process (GO:0044255)|fatty acid alpha-oxidation (GO:0001561)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281) peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777) carbon-carbon lyase activity (GO:0016830)|cofactor binding (GO:0048037)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|receptor binding (GO:0005102)|thiamine pyrophosphate binding (GO:0030976) HACL1{ENST00000321169}:r.1_2072_RAF1{ENST00000251849}:r.1275_3620(1)|HACL1{ENST00000321169}:r.1_2072_RAF1{ENST00000251849}:r.1275_3300(1) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(33) 101 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAACACGCGCGTTCTCCAATC 0.5685785536159601 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC001627 HGNC:17856 Approved gene with protein product protein-coding gene HPCL "2-hydroxyphytanoyl-CoA lyase" 2-HPCL, PHYH2 3p25.1 2016-10-05 2006-05-16 2006-05-16 AJ131753 4.1.-.- ENSG00000131373 10468558, 15644336 NM_012260 CCDS2627, CCDS68360, CCDS68361, CCDS68362 OTTHUMG00000129862 604300 NM_001284413 Q9UJ83 ENSG00000131373 uc062hdf.1 B4DWI1|B4DXI5|E9PEN4|Q9BV42|Q9P0A2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26061 false 1506PLCL2 23228 __UNKNOWN__ hg19 3 17131402 17131402 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:17131402T>G ENST00000418129.2 + 6 3469 c.3004T>G c.(3004-3006)Tga>Gga p.*1002G PLCL2_ENST00000432376.1_Nonstop_Mutation_p.*1002G NM_001144382.1 NP_001137854.1 Q9UPR0 PLCL2_HUMAN phospholipase C like 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228) cytoplasm (GO:0005737) calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(2) 185 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACTGGAGAATGAGGAAACTT 0.38154613466334164 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC036392 HGNC:9064 Approved gene with protein product protein-coding gene PLCE2 "phospholipase C, epsilon 2", "phospholipase C-like 2" KIAA1092 3p24.3 2015-11-17 2002-02-22 2015-11-17 AB029015 ENSG00000154822 10470851 832 C2 domain containing phospholipases CCDS33713, CCDS74911 OTTHUMG00000155467 614276 NM_001144382 Q9UPR0 ENSG00000154822 uc011awd.3 A8K5V4|Q8N498|Q9H8L0|Q9UFP9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23228 false 1507OXSM 54995 __UNKNOWN__ hg19 3 25835983 25835983 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:25835983T>C ENST00000280701.3 + 3 1477 c.1378T>C c.(1378-1380)Tag>Cag p.*460Q OXSM_ENST00000420173.2_Nonstop_Mutation_p.*377Q|NGLY1_ENST00000417874.2_5'Flank NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790) mitochondrion (GO:0005739) 3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315) biliary_tract(2)|breast(49)|central_nervous_system(22)|large_intestine(37)|pancreas(22) 132 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTGGACTGTAGAACATATA 0.3491271820448878 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471055 HGNC:26063 Approved gene with protein product protein-coding gene KS, FLJ20604, FASN2D, CEM1 "beta-ketoacyl synthase" 3p24.2 2017-02-02 BC008202 2.3.1.41 ENSG00000151093 12477932 NM_017897 CCDS2643, CCDS46780 OTTHUMG00000130477 610324 NM_001145391 Q9NWU1 ENSG00000151093 uc003cdn.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54995 false 1508SLC4A7 9497 __UNKNOWN__ hg19 3 27418257 27418257 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:27418257A>G ENST00000435667.2 - 25 3627 c.3406T>C c.(3406-3408)Tag>Cag p.*1136Q SLC4A7_ENST00000455077.1_Nonstop_Mutation_p.*1132Q|SLC4A7_ENST00000295736.5_Nonstop_Mutation_p.*1215Q|SLC4A7_ENST00000428386.1_Nonstop_Mutation_p.*1091Q|SLC4A7_ENST00000454389.1_Nonstop_Mutation_p.*1260Q|SLC4A7_ENST00000440156.1_Nonstop_Mutation_p.*1247Q|SLC4A7_ENST00000445684.1_Nonstop_Mutation_p.*1211Q|SLC4A7_ENST00000446700.1_Nonstop_Mutation_p.*1207Q|SLC4A7_ENST00000437179.1_Nonstop_Mutation_p.*1096Q|SLC4A7_ENST00000388777.4_Nonstop_Mutation_p.*801Q|SLC4A7_ENST00000425128.2_3'UTR Q9Y6M7 S4A7_HUMAN solute carrier family 4 member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085) apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Sodium bicarbonate(DB01390) GTTCAATTCTATAATGAAGTT 0.29925187032418954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GU354310 HGNC:11033 Approved gene with protein product protein-coding gene SLC4A6 "solute carrier family 4, sodium bicarbonate cotransporter, member 7" NBC3, SBC2 3p24.1 2016-02-17 2016-02-17 AB012130 ENSG00000033867 10198178, 9610397 NM_003615 752 Solute carriers CCDS33721, CCDS58819, CCDS58820, CCDS82747, CCDS82748, CCDS82749, CCDS82750, CCDS82751 OTTHUMG00000155679 603353 NM_001258379 Q9Y6M7 ENSG00000033867 uc011axa.4 A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9497 false 1509DCLK3 85443 __UNKNOWN__ hg19 3 36756821 36756821 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:36756821A>C ENST00000416516.2 - 5 2436 c.1945T>G c.(1945-1947)Tag>Gag p.*649E NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin like kinase 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|nucleus (GO:0005634) ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674) biliary_tract(2)|breast(72)|central_nervous_system(60)|haematopoietic_and_lymphoid_tissue(54)|kidney(134)|large_intestine(243)|lung(153)|ovary(52)|pancreas(22)|stomach(54)|testis(13) 859 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGGTGACTATGATACCTGC 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DA523113 HGNC:19005 Approved gene with protein product protein-coding gene DCAMKL3 "doublecortin and CaM kinase-like 3", "doublecortin-like kinase 3" KIAA1765, DCDC3C 3p22.2 2016-10-05 2007-04-02 2015-11-30 AB051552 ENSG00000163673 11214970, 16869982 XM_047355 1369 Doublecortin superfamily CCDS43064 OTTHUMG00000155805 613167 NM_033403 Q9C098 ENSG00000163673 uc003cgi.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 85443 false 1510C3orf35 339883 __UNKNOWN__ hg19 3 37458758 37458758 + START_CODON_SNP SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:37458758A>C ENST00000328376.5 + 5 980 c.1A>C c.(1-3)Atg>Ctg p.M1L C3orf35_ENST00000426078.1_START_CODON_SNP_p.M1L|C3orf35_ENST00000425932.1_START_CODON_SNP_p.M1L|C3orf35_ENST00000425564.2_START_CODON_SNP_p.M1L|C3orf35_ENST00000452017.2_START_CODON_SNP_p.M1L|C3orf35_ENST00000481400.1_Intron NM_178339.2 NP_848029.2 Q8IVJ8 APRG1_HUMAN chromosome 3 open reading frame 35 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(22)|central_nervous_system(44)|large_intestine(22)|pancreas(22) 112 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAATCCACATGAAAACAAT 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC144377 HGNC:24082 Approved gene with protein product protein-coding gene APRG1 "AP20 region protein", "APRG1 tumor suppressor candidate" 3p22.2 2017-01-27 AJ493599 ENSG00000198590 12543795 NM_178338 OTTHUMG00000155923 611429 NM_001302831 Q8IVJ8 ENSG00000198590 uc062ida.1 B7ZMA0|Q8IVJ5|Q8IVJ9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339883 false 1511CCRL2 9034 __UNKNOWN__ hg19 3 46450604 46450604 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:46450604A>C ENST00000399036.3 + 2 1386 c.1034A>C c.(1033-1035)tAa>tCa p.*345S CCRL2_ENST00000400882.2_Nonstop_Mutation_p.*345S|CCRL2_ENST00000400880.3_Nonstop_Mutation_p.*345S|CCRL2_ENST00000357392.4_Nonstop_Mutation_p.*357S|CCRL2_ENST00000441909.1_5'Flank|RP11-24F11.2_ENST00000451485.1_5'Flank NM_003965.4 NP_003956.2 O00421 CCRL2_HUMAN C-C motif chemokine receptor like 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) CCR chemokine receptor binding (GO:0048020)|chemokine receptor activity (GO:0004950)|chemokine receptor binding (GO:0042379) breast(174)|kidney(92)|lung(135)|ovary(58)|pancreas(8)|prostate(58) 525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGAAGTGTAAACTAGCATC 0.4538653366583541 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U97123 HGNC:1612 Approved gene with protein product protein-coding gene "chemokine (C-C motif) receptor-like 2" HCR, CRAM-B, CKRX, CRAM-A, ACKR5 "atypical chemokine receptor 5" 3p21.31 2016-10-05 2013-07-18 2016-03-14 AF014958 ENSG00000121797 9473515 1090 Atypical chemokine receptors CCDS43079, CCDS46814 OTTHUMG00000156318 608379 NM_001130910 O00421 ENSG00000121797 uc003cpp.5 B4DKQ8|O75307|Q4VBB0|Q6IPX0|Q7KYQ9|Q96KP5|Q9UPG0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9034 false 1512SPINK8 646424 __UNKNOWN__ hg19 3 48369830 48369830 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:48369830A>G ENST00000434006.1 - 1 2 c.2T>C c.(1-3)aTg>aCg p.M1T NM_001080525.1 NP_001073994.1 P0C7L1 ISK8_HUMAN serine peptidase inhibitor, Kazal type 8 (putative) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCCCCTTCATGGTGACAGA 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AW467501 HGNC:33160 Approved gene with protein product protein-coding gene 3p21.31 2014-11-19 ENSG00000229453 16930550 NM_001080525 740 Serine peptidase inhibitors, Kazal type CCDS46822 OTTHUMG00000156832 NM_001080525 P0C7L1 ENSG00000229453 uc003csq.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 646424 false 1513TREX1 11277 __UNKNOWN__ hg19 3 48506471 48506471 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:48506471C>T ENST00000296443.9 + 1 ATRIP_ENST00000320211.3_Missense_Mutation_p.T766M|ATRIP_ENST00000412052.1_Missense_Mutation_p.T673M|ATRIP_ENST00000346691.4_Missense_Mutation_p.T739M|ATRIP_ENST00000357105.6_Missense_Mutation_p.T639M|TREX1_ENST00000422277.2_5'Flank|TREX1_ENST00000433541.1_5'Flank|TREX1_ENST00000436480.2_5'Flank|TREX1_ENST00000444177.1_5'Flank|TREX1_ENST00000456089.1_5'Flank|TREX1_ENST00000492235.1_5'Flank Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell death (GO:0008219)|cellular response to interferon-beta (GO:0035458)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|innate immune response (GO:0045087)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479) endoplasmic reticulum membrane (GO:0005789)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleus (GO:0005634) 3'-5' exonuclease activity (GO:0008408)|3'-5'-exodeoxyribonuclease activity (GO:0008296)|adenyl deoxyribonucleotide binding (GO:0032558)|double-stranded DNA binding (GO:0003690)|exodeoxyribonuclease III activity (GO:0008853)|metal ion binding (GO:0046872)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein homodimerization activity (GO:0042803)|single-stranded DNA binding (GO:0003697) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTGATGTGACGGACTGTGAA 0.5985037406483791 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471055 HGNC:12269 Approved gene with protein product protein-coding gene AGS1 "Aicardi-Goutieres syndrome 1" DRN3 3p21.31 2017-03-24 AF151105 ENSG00000213689 10391904, 10393201, 16845398 NM_016381 544 Exonucleases CCDS2769, CCDS59451, CCDS43086 OTTHUMG00000156205 606609 NM_007248 Q9NSU2 ENSG00000213689 uc062jhw.1 B2RCN9|Q8TEU2|Q9BPW1|Q9Y4X2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11277 false 1514DALRD3 55152 __UNKNOWN__ hg19 3 49053682 49053683 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:49053682_49053683insT ENST00000440857.1 - 10 1440 c.736_737insA c.(736-738)ctcfs p.L246fs DALRD3_ENST00000341949.4_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000313778.5_Frame_Shift_Ins_p.L246fs|DALRD3_ENST00000441576.2_Frame_Shift_Ins_p.L413fs|DALRD3_ENST00000395462.4_Frame_Shift_Ins_p.L246fs|NDUFAF3_ENST00000326912.4_5'Flank|NDUFAF3_ENST00000326925.6_5'Flank|NDUFAF3_ENST00000395458.2_5'Flank Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arginyl-tRNA aminoacylation (GO:0006420) arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTCAAAGAGTGTGGCAAG 0.5525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC137630 HGNC:25536 Approved gene with protein product protein-coding gene FLJ10496 3p21.31 2014-11-19 BC014099 ENSG00000178149 12477932 NM_018114 CCDS2783, CCDS33754, CCDS63632 OTTHUMG00000156748 NM_001009996 Q5D0E6 ENSG00000178149 uc003cvm.4 Q7Z5S7|Q86WY1|Q8N105|Q8NA89|Q9NVU8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55152 false 1515IQCF1 132141 __UNKNOWN__ hg19 3 51928908 51928908 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:51928908A>G ENST00000310914.5 - 4 679 c.616T>C c.(616-618)Tga>Cga p.*206R NM_152397.2 NP_689610.2 Q8N6M8 IQCF1_HUMAN IQ motif containing F1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGACCACTTCATTCCTTTATT 0.5187032418952618 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC034228 HGNC:28607 Approved gene with protein product protein-coding gene MGC39725 3p21.2 2016-10-05 BC029595 ENSG00000173389 12477932 NM_152397 CCDS2836 OTTHUMG00000156908 NM_152397 Q8N6M8 ENSG00000173389 uc003dbv.4 Q8N711 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 132141 false 1516ASB14 142686 __UNKNOWN__ hg19 3 57310755 57310756 + Splice_Site INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:57310755_57310756insA ENST00000487349.1 - 10 1708 c.1586_1587insT c.(1585-1587)acafs p.N530fs ASB14_ENST00000389601.3_Splice_Site_p.N530fs NM_130387.5 NP_569058.1 A6NK59 ASB14_HUMAN ankyrin repeat and SOCS box containing 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCGAGGGTTTGCTAAAAAGA 0.3725 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_INS AL832472 HGNC:19766 Approved gene with protein product protein-coding gene "ankyrin repeat and SOCS box-containing 14" DKFZp313L0121 3p14.3 2016-10-05 2011-01-25 AF403032 ENSG00000239388 12076535 403 Ankyrin repeat domain containing CCDS46856 OTTHUMG00000158602 NM_001142733 A6NK59 ENSG00000239388 uc062kwt.1 C9JX97|Q8WXK2|Q92816 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 142686 false 1517KBTBD8 84541 __UNKNOWN__ hg19 3 67053976 67053977 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:67053976_67053977insT ENST00000417314.2 + 3 634 c.585_586insT c.(586-588)ctgfs p.L196fs KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000295568.4_Frame_Shift_Ins_p.L170fs|KBTBD8_ENST00000469661.1_Intron Q8NFY9 KBTB8_HUMAN kelch repeat and BTB domain containing 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794) biliary_tract(2)|breast(222)|central_nervous_system(44)|large_intestine(37)|lung(134)|ovary(58)|pancreas(30)|prostate(58) 585 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAAGACCAACTGATAAGTA 0.3825 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC117487 HGNC:30691 Approved gene with protein product protein-coding gene "kelch repeat and BTB (POZ) domain containing 8" TA-KRP, KIAA1842 "T-cell activation kelch repeat protein" 3p14.1 2016-10-05 2016-02-12 AF385438 ENSG00000163376 11347906 NM_032505 861 BTB domain containing CCDS2906 OTTHUMG00000158779 616607 NM_032505 Q8NFY9 ENSG00000163376 uc003dmy.4 B4DTW6|Q96JI5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84541 false 1518OR5AC2 81050 __UNKNOWN__ hg19 3 97806944 97806944 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:97806944T>C ENST00000358642.2 + 1 928 c.928T>C c.(928-930)Taa>Caa p.*310Q NM_054106.1 NP_473447.1 Q9NZP5 O5AC2_HUMAN olfactory receptor family 5 subfamily AC member 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATAAGGAAGTAAACAGTTCC 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AF179759 HGNC:15431 Approved gene with protein product protein-coding gene "olfactory receptor, family 5, subfamily AC, member 2" HSA1 3q11.2 2015-12-09 2015-12-09 AF179759 ENSG00000196578 152 Olfactory receptors, family 5 CCDS33796 OTTHUMG00000160083 NM_054106 Q9NZP5 ENSG00000196578 uc011bgs.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 81050 false 1519OR5H14 403273 __UNKNOWN__ hg19 3 97869139 97869140 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:97869139_97869140insC ENST00000437310.1 + 1 970 c.910_911insC c.(910-912)atgfs p.M304fs RP11-343D2.11_ENST00000508964.1_5'Flank NM_001005514.1 NP_001005514.1 A6NHG9 O5H14_HUMAN olfactory receptor family 5 subfamily H member 14 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCACAAAAATGTTCAAAAG 0.345 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC136984 HGNC:31286 Approved gene with protein product protein-coding gene "olfactory receptor, family 5, subfamily H, member 14" 3q11.2 2015-12-09 2015-12-09 ENSG00000236032 152 Olfactory receptors, family 5 CCDS33798 OTTHUMG00000160079 NM_001005514 A6NHG9 ENSG00000236032 uc003dsg.2 B9EH15 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 403273 false 1520GPR128 __UNKNOWN__ hg19 3 100354621 100354621 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:100354621C>T ENST00000475887.1 + 1 GPR128_ENST00000273352.3_Missense_Mutation_p.T183M Q96K78 GP128_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTAGTGCTACGCGAGTGGTT 0.371571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(87;185 1975 7223 18722) AK172774 Q14D94|Q86SQ2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1521ABI3BP 25890 __UNKNOWN__ hg19 3 100712249 100712249 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:100712249T>C ENST00000471714.1 - 1 111 c.1A>G c.(1-3)Atg>Gtg p.M1V ABI3BP_ENST00000284322.5_START_CODON_SNP_p.M1V|ABI3BP_ENST00000495063.1_START_CODON_SNP_p.M1V Q7Z7G0 TARSH_HUMAN ABI family member 3 binding protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811) extracellular space (GO:0005615)|interstitial matrix (GO:0005614) heparin binding (GO:0008201) biliary_tract(2)|breast(32)|central_nervous_system(44)|large_intestine(35)|pancreas(22) 135 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACCTCGCATGGGGAATGAT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC106721 HGNC:17265 Approved gene with protein product protein-coding gene "ABI family, member 3 (NESH) binding protein" NESHBP, DKFZP586L2024, TARSH "target of Nesh-SH3" 3q12.2 2015-11-17 2015-11-17 AB056106 ENSG00000154175 11501947 555 Fibronectin type III domain containing CCDS46880 OTTHUMG00000159094 606279 NM_015429 Q7Z7G0 ENSG00000154175 uc003dun.4 B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 25890 false 1522IFT57 55081 __UNKNOWN__ hg19 3 107941167 107941167 + START_CODON_SNP SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:107941167C>A ENST00000264538.3 - 1 251 c.3G>T c.(1-3)atG>atT p.M1I NM_018010.3 NP_060480.1 Q9NWB7 IFT57_HUMAN intraflagellar transport 57 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351) centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391) DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGCAGCAGTCATCGCAGAAC 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457251 HGNC:17367 Approved gene with protein product protein-coding gene ESRRBL1 "estrogen-related receptor beta like 1", "intraflagellar transport 57 homolog (Chlamydomonas)" FLJ10147, HIPPI, MHS4R2 3q13.12-q13.13 2017-06-08 2005-11-02 2014-07-03 AK001009 ENSG00000114446 NM_018010 615 Intraflagellar transport proteins CCDS2951 OTTHUMG00000159223 606621 NM_018010 Q9NWB7 ENSG00000114446 uc003dwx.4 Q96DA9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55081 false 1523CD96 10225 __UNKNOWN__ hg19 3 111261097 111261097 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:111261097T>C ENST00000352690.4 + 1 242 c.2T>C c.(1-3)aTg>aCg p.M1T CD96_ENST00000283285.5_START_CODON_SNP_p.M1T|CD96_ENST00000438817.2_START_CODON_SNP_p.M1T NM_005816.4 NP_005807.1 P40200 TACT_HUMAN CD96 molecule __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155)|immune response (GO:0006955)|regulation of immune response (GO:0050776) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGAAGACAATGGAGAAAAAA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ Opitz Trigonocephaly syndrome __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ C syndrome, Trigonocephaly syndrome Familial Cancer Database M88282 HGNC:16892 Approved gene with protein product protein-coding gene "CD96 antigen" TACTILE 3q13.13-q13.2 2017-06-08 2006-03-28 M88282 ENSG00000153283 1313846 594|471|1410 Immunoglobulin like domain containing|CD molecules|Ig-like cell adhesion molecule family CCDS2958, CCDS2959, CCDS82817 OTTHUMG00000159275 606037 NM_001318889 P40200 ENSG00000153283 uc003dxw.4 Q5JPB3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10225 false 1524B4GALT4 8702 __UNKNOWN__ hg19 3 118955888 118955888 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:118955888G>A ENST00000483209.1 - 2 B4GALT4_ENST00000393765.2_DE_NOVO_START_OUT_FRAME|B4GALT4_ENST00000359213.3_DE_NOVO_START_OUT_FRAME|B4GALT4_ENST00000467604.1_DE_NOVO_START_OUT_FRAME|B4GALT4-AS1_ENST00000470790.1_RNA|B4GALT4_ENST00000460321.1_Intron O60513 B4GT4_HUMAN beta-1,4-galactosyltransferase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|membrane lipid metabolic process (GO:0006643)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281) Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021) galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ N-Acetyl-D-glucosamine(DB00141) GGCAAGAGCCGTGGAAATCCA 0.4713216957605985 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FJ525878 HGNC:927 Approved gene with protein product protein-coding gene "UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4" beta4Gal-T4 3q13.32 2016-10-05 2016-03-15 AF022367 2.4.1.275 ENSG00000121578 9597550, 9792633 NM_003778 425 Beta 4-glycosyltransferases CCDS2986 OTTHUMG00000159358 604015 NM_003778 O60513 ENSG00000121578 uc003eci.4 Q68D68|Q9BSW3|Q9C078 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8702 false 1525GPR156 165829 __UNKNOWN__ hg19 3 119912256 119912257 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:119912256_119912257insT ENST00000464295.1 - 4 695 c.248_249insA c.(247-249)tccfs p.S84fs GPR156_ENST00000461057.1_Frame_Shift_Ins_p.S84fs|GPR156_ENST00000315843.3_Frame_Shift_Ins_p.S84fs Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled GABA receptor activity (GO:0004965) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(11)|pancreas(22) 194 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTGGGACTGGACATCTTCA 0.425 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC143606 HGNC:20844 Approved gene with protein product protein-coding gene PGR28, GABABL 3q13.33 2014-11-19 AF488739 ENSG00000175697 12591167 NM_153002 285 G protein-coupled receptors, Class C orphans CCDS2997, CCDS54629 OTTHUMG00000159406 610464 NM_001168271 Q8NFN8 ENSG00000175697 uc011bjg.3 B7ZL66|E9PFZ4|Q14CM1|Q86SN6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 165829 false 1526RABL3 285282 __UNKNOWN__ hg19 3 120408670 120408670 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:120408670T>C ENST00000273375.3 - 8 741 c.711A>G c.(709-711)tgA>tgG p.*237W RABL3_ENST00000483733.1_Nonstop_Mutation_p.*213W|RABL3_ENST00000491398.1_Intron NM_173825.3 NP_776186.2 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family like 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ small GTPase mediated signal transduction (GO:0007264) GTP binding (GO:0005525) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGTGTAATTCAGTCATAAT 0.3740648379052369 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471052 HGNC:18072 Approved gene with protein product protein-coding gene "RAB, member of RAS oncogene family-like 3" MGC23920 3q13.33 2016-04-04 2016-04-04 BC020832 ENSG00000144840 12477932 NM_173825 394 RAB like GTPases CCDS3001 OTTHUMG00000159668 NM_173825 Q5HYI8 ENSG00000144840 uc003edx.3 Q8WUD3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 285282 false 1527WDR5B 54554 __UNKNOWN__ hg19 3 122133383 122133383 + Silent SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:122133383T>C ENST00000330689.4 - 1 1500 c.993A>G c.(991-993)taA>taG p.*331* RP11-299J3.8_ENST00000608015.1_5'Flank|RP11-299J3.8_ENST00000608346.1_5'Flank|RP11-299J3.8_ENST00000608465.1_5'Flank|RP11-299J3.8_ENST00000608756.1_5'Flank|RP11-299J3.8_ENST00000609469.1_5'Flank NM_019069.3 NP_061942.2 Q86VZ2 WDR5B_HUMAN WD repeat domain 5B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCAAAGGGATTAGTGGTTAC 0.3516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457279 HGNC:17826 Approved gene with protein product protein-coding gene FLJ11287 3q21.1 2013-01-09 AK002149 ENSG00000196981 10369878 NM_019069 362 WD repeat domain containing CCDS3012 OTTHUMG00000159489 NM_019069 Q86VZ2 ENSG00000196981 uc003efa.2 B2RCM9|Q9NUL4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54554 false 1528KPNA1 3836 __UNKNOWN__ hg19 3 122180151 122180152 + Frame_Shift_Ins INS - - GGGA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:122180151_122180152insGGGA ENST00000344337.6 - 5 529 c.351_352insTCCC c.(352-354)attfs p.I118fs KPNA1_ENST00000466923.1_5'Flank NM_002264.3 NP_002255.3 P52294 IMA5_HUMAN karyopherin subunit alpha 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|regulation of DNA recombination (GO:0000018)|viral life cycle (GO:0019058)|viral process (GO:0016032) cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCATCAATAGGAGGGTTA 0.3275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Melanoma(12;340 801 11196 19797) S75295 HGNC:6394 Approved gene with protein product protein-coding gene "karyopherin alpha 1 (importin alpha 5)", "karyopherin alpha 1" SRP1, RCH2, NPI-1, IPOA5 "importin alpha 5" 3q21.1 2016-10-05 2016-02-01 S75295 ENSG00000114030 8052633 NM_002264 596|409 Importins|Armadillo repeat containing CCDS3013 OTTHUMG00000159487 600686 NM_002264 P52294 ENSG00000114030 uc003efe.3 D3DN93|Q6IBQ9|Q9BQ56 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3836 false 1529COL6A6 131873 __UNKNOWN__ hg19 3 130394240 130394240 + Nonstop_Mutation SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:130394240A>T ENST00000358511.6 + 36 6822 c.6791A>T c.(6790-6792)tAa>tTa p.*2264L COL6A6_ENST00000453409.2_Nonstop_Mutation_p.*2264L NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 chain __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198) collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578) biliary_tract(2)|breast(1)|central_nervous_system(45)|kidney(1)|pancreas(22) 71 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAACATGATTAAAAAAATGCT 0.371571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AM774227 HGNC:27023 Approved gene with protein product protein-coding gene "collagen, type VI, alpha 6" 3q22.1 2016-07-20 2016-07-20 AL713792 ENSG00000206384 23869615 NM_001102608 490 Collagens CCDS46911 OTTHUMG00000159653 616613 NM_001102608 A6NMZ7 ENSG00000206384 uc010htl.4 A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 131873 false 1530NUDT16 131870 __UNKNOWN__ hg19 3 131102185 131102185 + Silent SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:131102185G>A ENST00000521288.1 + 3 619 c.588G>A c.(586-588)taG>taA p.*196* NUDT16_ENST00000502852.1_3'UTR|NUDT16_ENST00000359850.3_Silent_p.*163*|NUDT16_ENST00000537561.1_Intron|RP11-933H2.4_ENST00000502521.1_5'Flank Q96DE0 NUD16_HUMAN nudix hydrolase 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenosine to inosine editing (GO:0006382)|dephosphorylation (GO:0016311)|dITP catabolic process (GO:0035863)|IDP catabolic process (GO:0046709)|mRNA catabolic process (GO:0006402)|negative regulation of rRNA processing (GO:2000233)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell proliferation (GO:0008284)|positive regulation of double-strand break repair (GO:2000781)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|snoRNA catabolic process (GO:0016077)|XDP catabolic process (GO:1901639) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) cobalt ion binding (GO:0050897)|dIDP diphosphatase activity (GO:0097383)|dITP diphosphatase activity (GO:0035870)|GTP binding (GO:0005525)|inosine-diphosphatase activity (GO:0090450)|ITP binding (GO:1901641)|m7G(5')pppN diphosphatase activity (GO:0050072)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metalloexopeptidase activity (GO:0008235)|mRNA binding (GO:0003729)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|protein homodimerization activity (GO:0042803)|snoRNA binding (GO:0030515)|XTP binding (GO:1901640) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCATCACTAGAGGCAGCCCT 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BP199028 HGNC:26442 Approved gene with protein product protein-coding gene "nudix (nucleoside diphosphate linked moiety X)-type motif 16" FLJ31265 3q22.1 2016-10-24 2015-11-13 AK055827 ENSG00000198585 12477932 NM_152395 667 Nudix hydrolase family CCDS3070, CCDS54640, CCDS54641 OTTHUMG00000159623 617381 NM_001171905 Q96DE0 ENSG00000198585 uc003eog.3 B4E3B4|E9PED4|F5GYJ1|Q96N82 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 131870 false 1531ACPP 55 __UNKNOWN__ hg19 3 132075720 132075720 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:132075720T>C ENST00000475741.1 + 9 1111 c.1060T>C c.(1060-1062)Tag>Cag p.*354Q ACPP_ENST00000351273.7_Intron|ACPP_ENST00000336375.5_Nonstop_Mutation_p.*387Q P15309 PPAP_HUMAN acid phosphatase, prostate __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772) apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506) 5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTACAGATTAGTGTGCACA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X74961 HGNC:125 Approved gene with protein product protein-coding gene ACP3, ACP-3, PAP "prostatic acid phosphatase" 3q22.1 2015-08-21 3.1.3.2 ENSG00000014257 1375464, 2842184 NM_001099 1071 Acid phosphatases CCDS3073, CCDS46916, CCDS77818 OTTHUMG00000159650 171790 NM_001099 P15309 ENSG00000014257 uc010htp.3 D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55 false 1532RYK 6259 __UNKNOWN__ hg19 3 133928551 133928551 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:133928551T>C ENST00000427044.2 - 5 612 c.1A>G c.(1-3)Atg>Gtg p.M1V RYK_ENST00000296084.4_Missense_Mutation_p.M191V P34925 RYK_HUMAN receptor-like tyrosine kinase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axon guidance (GO:0007411)|corpus callosum development (GO:0022038)|neuron differentiation (GO:0030182)|neuron projection development (GO:0031175)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of MAPK cascade (GO:0043410)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888) biliary_tract(2)|breast(201)|central_nervous_system(60)|haematopoietic_and_lymphoid_tissue(54)|kidney(46)|large_intestine(71)|lung(374)|ovary(110)|pancreas(30)|prostate(58)|stomach(54)|testis(13) 1073 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGTAGCACATTTTCCTTCGT 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC021700 HGNC:10481 Approved gene with protein product protein-coding gene JTK5A "JTK5A protein tyrosine kinase", "RYK receptor-like tyrosine kinase" D3S3195, RYK1, JTK5 3q22.2 2016-10-05 2012-02-28 S59184 2.7.10.1 ENSG00000163785 8386829 NM_001005861 321 Receptor Tyrosine Kinases CCDS75016, CCDS77820 OTTHUMG00000159750 600524 NM_001005861 P34925 ENSG00000163785 uc032sdh.1 Q04696 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6259 false 1533PCCB 5096 __UNKNOWN__ hg19 3 136046015 136046016 + Frame_Shift_Ins INS - - TA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:136046015_136046016insTA ENST00000471595.1 + 12 1235 c.1217_1218insTA c.(1216-1218)gggfs p.G407fs PCCB_ENST00000483687.1_Frame_Shift_Ins_p.G388fs|PCCB_ENST00000490504.1_Frame_Shift_Ins_p.G350fs|PCCB_ENST00000469217.1_Frame_Shift_Ins_p.G427fs|PCCB_ENST00000251654.4_Frame_Shift_Ins_p.G407fs|PCCB_ENST00000468777.1_Frame_Shift_Ins_p.G438fs|PCCB_ENST00000466072.1_Frame_Shift_Ins_p.G427fs|PCCB_ENST00000462637.1_Frame_Shift_Ins_p.G384fs|PCCB_ENST00000482086.1_Frame_Shift_Ins_p.G291fs|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000474833.1_Intron P05166 PCCB_HUMAN propionyl-CoA carboxylase beta subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767) cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(11)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Biotin(DB00121)|L-Valine(DB00161) AGGAATACGGGGGCATCATC 0.5225 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC069524 HGNC:8654 Approved gene with protein product protein-coding gene "propionyl Coenzyme A carboxylase, beta polypeptide" 3q22.3 2016-10-05 2015-11-11 6.4.1.3 ENSG00000114054 2895916 CCDS3089, CCDS54643 OTTHUMG00000159792 232050 NM_000532 P05166 ENSG00000114054 uc003eqy.3 B7Z2Z4|Q16813|Q96CX0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5096 false 1534CLDN18 51208 __UNKNOWN__ hg19 3 137717711 137717711 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:137717711A>G ENST00000343735.4 + 1 135 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_001002026.2 NP_001002026.1 P56856 CLD18_HUMAN claudin 18 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923) identical protein binding (GO:0042802)|structural molecule activity (GO:0005198) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGCGCCACCATGGCCGTGAC 0.5511221945137157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471052 HGNC:2039 Approved gene with protein product protein-coding gene SFTPJ "surfactant associated protein J" 3q22.3 2014-11-19 AF221069, AY102073 ENSG00000066405 NM_001002026 488 Claudins CCDS3095, CCDS33862 OTTHUMG00000159762 609210 NM_001002026 P56856 ENSG00000066405 uc003erp.2 A5PL21|Q96PH4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51208 false 1535CEP70 80321 __UNKNOWN__ hg19 3 138256018 138256018 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:138256018A>G ENST00000464035.1 - 6 797 c.637T>C c.(637-639)Taa>Caa p.*213Q CEP70_ENST00000264982.3_Splice_Site|CEP70_ENST00000481834.1_Splice_Site|CEP70_ENST00000484888.1_Splice_Site|CEP70_ENST00000489254.1_Splice_Site|CEP70_ENST00000542237.1_Splice_Site|CEP70_ENST00000478673.1_Splice_Site Q8NHQ1 CEP70_HUMAN centrosomal protein 70 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGCAAAATTACTGTCTATCC 0.34413965087281795 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471052 HGNC:29972 Approved gene with protein product protein-coding gene "centrosomal protein 70kDa" BITE, FLJ13036 3q22.3 2016-03-30 2016-03-30 AF202146 ENSG00000114107 14654843 NM_024491 CCDS3102, CCDS75022, CCDS75023, CCDS75024, CCDS82842 OTTHUMG00000159891 614310 NM_001288964 Q8NHQ1 ENSG00000114107 uc003esl.5 B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 80321 false 1536PLSCR4 57088 __UNKNOWN__ hg19 3 145939856 145939856 + START_CODON_SNP SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:145939856C>G ENST00000354952.2 - 2 244 c.3G>C c.(1-3)atG>atC p.M1I PLSCR4_ENST00000446574.2_START_CODON_SNP_p.M1I|PLSCR4_ENST00000493382.1_START_CODON_SNP_p.M1I|PLSCR4_ENST00000433593.2_Intron|PLSCR4_ENST00000383083.2_START_CODON_SNP_p.M1I NM_020353.2 NP_065086.2 Q9NRQ2 PLS4_HUMAN phospholipid scramblase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to lipopolysaccharide (GO:0071222)|phospholipid scrambling (GO:0017121) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509)|CD4 receptor binding (GO:0042609)|enzyme binding (GO:0019899)|phospholipid scramblase activity (GO:0017128) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACTTACCTGACATTTTGAAGA 0.26184538653366585 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471052 HGNC:16497 Approved gene with protein product protein-coding gene 3q24 2014-11-18 AF199023 ENSG00000114698 10930526 NM_020353 954 Phospholipid scramblases CCDS3133, CCDS54651 OTTHUMG00000159415 607612 NM_001128304 Q9NRQ2 ENSG00000114698 uc003evt.6 A8K2E9|Q2TTR3|Q658L3|Q6ZR73|Q7Z505 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57088 false 1537PLSCR5 389158 __UNKNOWN__ hg19 3 146322998 146322998 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:146322998A>G ENST00000443512.1 - 1 1006 c.2T>C c.(1-3)aTg>aCg p.M1T PLSCR5_ENST00000492200.1_START_CODON_SNP_p.M1T|PLSCR5_ENST00000482567.1_START_CODON_SNP_p.M1T NM_001085420.1 NP_001078889.1 A0PG75 PLS5_HUMAN phospholipid scramblase family member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTAGAGGCCATGAAGATGTC 0.36658354114713215 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY436642 HGNC:19952 Approved gene with protein product protein-coding gene "phospholipid scramblase family, member 5" 3q24 2015-11-18 2015-11-18 AY436642 ENSG00000231213 XM_371670 954 Phospholipid scramblases CCDS46931, CCDS82853 OTTHUMG00000159437 NM_001085420 A0PG75 ENSG00000231213 uc062otn.1 B2RXK5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 389158 false 1538AADAC 13 __UNKNOWN__ hg19 3 151531952 151531952 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:151531952T>C ENST00000232892.7 + 1 128 c.2T>C c.(1-3)aTg>aCg p.M1T AADAC_ENST00000488869.1_START_CODON_SNP_p.M1T|RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of triglyceride catabolic process (GO:0010898) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(188)|pancreas(22) 278 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGTTCACCATGGGAAGAAAA 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(30;839 841 2699 32801 46334) L32179 HGNC:17 Approved gene with protein product protein-coding gene "arylacetamide deacetylase (esterase)" DAC, CES5A1 3q25.1 2015-08-24 2012-07-13 L32179 3.1.1.3 ENSG00000114771 8063807 NM_001086 465|464 Arylacetamide deacetylase family|Lipases CCDS33877 OTTHUMG00000159876 600338 NM_001086 P22760 ENSG00000114771 uc003eze.4 A8K3L3|D3DNJ6|Q8N1A9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 13 false 1539AADAC 13 __UNKNOWN__ hg19 3 151545958 151545958 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:151545958T>C ENST00000232892.7 + 5 1324 c.1198T>C c.(1198-1200)Tag>Cag p.*400Q RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA NM_001086.2 NP_001077.2 P22760 AAAD_HUMAN arylacetamide deacetylase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of triglyceride catabolic process (GO:0010898) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(188)|pancreas(22) 278 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGAAAATCTATAGTAAAACAT 0.33915211970074816 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(30;839 841 2699 32801 46334) L32179 HGNC:17 Approved gene with protein product protein-coding gene "arylacetamide deacetylase (esterase)" DAC, CES5A1 3q25.1 2015-08-24 2012-07-13 L32179 3.1.1.3 ENSG00000114771 8063807 NM_001086 465|464 Arylacetamide deacetylase family|Lipases CCDS33877 OTTHUMG00000159876 600338 NM_001086 P22760 ENSG00000114771 uc003eze.4 A8K3L3|D3DNJ6|Q8N1A9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 13 false 1540C3orf79 152118 __UNKNOWN__ hg19 3 153202348 153202348 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:153202348G>A ENST00000446603.2 + 1 65 c.3G>A c.(1-3)atG>atA p.M1I RP11-23D24.2_ENST00000493214.2_RNA NM_001101337.1 NP_001094807.1 P0CE67 CC079_HUMAN chromosome 3 open reading frame 79 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAGTACAGATGCATGTATGTG 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AF086445 HGNC:37259 Approved unknown other 3q25.2 2016-09-30 AF086445 ENSG00000237787 NM_001101337 OTTHUMG00000159629 NM_001101337 P0CE67 ENSG00000237787 uc003ezt.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 152118 false 1541GPR149 344758 __UNKNOWN__ hg19 3 154147404 154147404 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:154147404T>G ENST00000389740.2 - 1 101 c.1A>C c.(1-3)Atg>Ctg p.M1L NM_001038705.1 NP_001033794.1 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AATAAAGACATTGTCCTTGGT 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ318360 HGNC:23627 Approved gene with protein product protein-coding gene PGR10, IEDA, R35 3q25.2 2017-06-27 AY255534 ENSG00000174948 11161467, 12679517 XM_293580 262 G protein-coupled receptors, Class A orphans CCDS43162 OTTHUMG00000159131 NM_001038705 Q86SP6 ENSG00000174948 uc003faa.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 344758 false 1542RSRC1 51319 __UNKNOWN__ hg19 3 158262029 158262030 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:158262029_158262030insT ENST00000295930.3 + 10 1132 c.970_971insT c.(970-972)cgafs p.R324fs RSRC1_ENST00000480820.1_Frame_Shift_Ins_p.R324fs|RSRC1_ENST00000464171.1_Frame_Shift_Ins_p.R266fs|RSRC1_ENST00000312179.6_Frame_Shift_Ins_p.R266fs|RSRC1_ENST00000475278.2_Frame_Shift_Ins_p.R273fs NM_016625.3 NP_057709.2 Q96IZ7 RSRC1_HUMAN arginine and serine rich coiled-coil 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mRNA splicing, via spliceosome (GO:0000398)|nucleocytoplasmic transport (GO:0006913)|RNA splicing (GO:0008380) cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTGCTCTCCGACAAGAAAG 0.3125 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC010357 HGNC:24152 Approved gene with protein product protein-coding gene "arginine/serine-rich coiled-coil 1" MGC12197, BM-011, SRrp53, SFRS21 "splicing factor, arginine/serine-rich 21" 3q25.32 2016-06-06 2016-06-06 AF208853 ENSG00000174891 15798186, 19065146 NM_016625 CCDS3181, CCDS63822 OTTHUMG00000158758 613352 NM_001271834 Q96IZ7 ENSG00000174891 uc062pjk.1 A8K2R9|Q96QK2|Q9NZE5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51319 false 1543RARRES1 __UNKNOWN__ hg19 3 158428700 158428701 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:158428700_158428701insT ENST00000237696.5 - 3 643 c.361_362insA c.(361-363)ggafs p.G121fs RARRES1_ENST00000479756.1_Frame_Shift_Ins_p.G121fs|RARRES1_ENST00000498640.1_Intron NM_206963.1 NP_996846.1 P49788 TIG1_HUMAN retinoic acid receptor responder 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of cell proliferation (GO:0008285) extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Tretinoin(DB00755) CCCAAACGTCCCTCACCTTC 0.4275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U27185 HGNC:9867 Approved gene with protein product protein-coding gene "retinoic acid receptor responder (tazarotene induced) 1" TIG1, LXNL "latexin-like" 3q25.32 2016-03-15 2016-03-15 U27185 ENSG00000118849 8601727, 9270552 CCDS3184, CCDS54665 OTTHUMG00000158834 605090 NM_002888 P49788 ENSG00000118849 uc003fci.4 Q8N1D7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 5918 false 1544SPATA16 83893 __UNKNOWN__ hg19 3 172607362 172607362 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:172607362A>G ENST00000351008.3 - 11 1892 c.1708T>C c.(1708-1710)Tag>Cag p.*570Q NM_031955.5 NP_114161.3 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283) Golgi apparatus (GO:0005794) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAATGACTACCTTTGCTGA 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ142639 HGNC:29935 Approved gene with protein product protein-coding gene NYD-SP12 3q26.31 2014-11-19 AF345909 ENSG00000144962 12529416, 17847006 NM_031955 CCDS3221 OTTHUMG00000156865 609856 NM_031955 Q9BXB7 ENSG00000144962 uc003fin.5 Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 83893 false 1545MCF2L2 23101 __UNKNOWN__ hg19 3 183014766 183014767 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:183014766_183014767insC ENST00000328913.3 - 12 1793 c.1494_1495insG c.(1495-1497)aagfs p.K499fs MCF2L2_ENST00000473233.1_Frame_Shift_Ins_p.K499fs|MCF2L2_ENST00000414362.2_Frame_Shift_Ins_p.K499fs|MCF2L2_ENST00000447025.2_Frame_Shift_Ins_p.K499fs|B3GNT5_ENST00000462559.1_Intron NM_015078.2 NP_055893.3 Q86YR7 MF2L2_HUMAN MCF.2 cell line derived transforming sequence-like 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Rho guanyl-nucleotide exchange factor activity (GO:0005089) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(38)|lung(1)|pancreas(22) 247 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCATTACCTTTGCATCGAGG 0.5275 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC064632 HGNC:30319 Approved gene with protein product protein-coding gene KIAA0861, ARHGEF22 3q27.1 2016-10-05 AB020668 ENSG00000053524 NM_015078 722 Rho guanine nucleotide exchange factors CCDS3243 OTTHUMG00000158388 NM_015078 Q86YR7 ENSG00000053524 uc003fli.3 O94942|Q6P2B8|Q6ZVJ5|Q8N318 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23101 false 1546KLHL6 89857 __UNKNOWN__ hg19 3 183273440 183273440 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:183273440A>T ENST00000341319.3 - 1 38 c.2T>A c.(1-3)aTg>aAg p.M1K NM_130446.2 NP_569713.2 Q8WZ60 KLHL6_HUMAN kelch like family member 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(85)|large_intestine(21)|pancreas(22)|salivary_gland(1) 186 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCCATCAACATCGAGACTGA 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471052 HGNC:18653 Approved gene with protein product protein-coding gene "kelch-like 6 (Drosophila)" FLJ00029 "kelch-like protein KLHL6" 3q27.1 2016-10-05 2015-11-18 AF441792 ENSG00000172578 11214971, 12617994 NM_130446 861|617 BTB domain containing|Kelch like CCDS3245 OTTHUMG00000148673 614214 NM_130446 Q8WZ60 ENSG00000172578 uc003flr.4 B2RB31|D3DNS8|Q8N5I1|Q8N892 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 89857 false 1547SLC51A 200931 __UNKNOWN__ hg19 3 195960068 195960068 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:195960068T>C ENST00000296327.5 + 9 1230 c.1021T>C c.(1021-1023)Taa>Caa p.*341Q PCYT1A_ENST00000419333.1_Intron|SLC51A_ENST00000479732.1_5'Flank NM_152672.5 NP_689885.4 Q86UW1 OSTA_HUMAN solute carrier family 51 alpha subunit __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bile acid and bile salt transport (GO:0015721)|transport (GO:0006810) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234) protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917) CCTCAAAGCCTAAGGTGGATG 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471191 HGNC:29955 Approved gene with protein product protein-coding gene "solute carrier family 51, alpha subunit" OSTalpha "organic solute transporter, alpha subunit" 3q29 2015-12-08 2015-12-08 ENSG00000163959 12719432, 20538072 NM_152672 752 Solute carriers CCDS3314 OTTHUMG00000155684 612084 NM_152672 Q86UW1 ENSG00000163959 uc003fwd.4 Q6ZMC7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 200931 false 1548BDH1 622 __UNKNOWN__ hg19 3 197260393 197260393 + DE_NOVO_START_OUT_FRAME DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr3:197260393delA ENST00000441275.1 - 3 BDH1_ENST00000392378.2_Frame_Shift_Del_p.I41fs|BDH1_ENST00000358186.2_Frame_Shift_Del_p.I41fs|BDH1_ENST00000392379.1_Frame_Shift_Del_p.I41fs Q02338 BDH_HUMAN 3-hydroxybutyrate dehydrogenase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adipose tissue development (GO:0060612)|brain development (GO:0007420)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|ketone body catabolic process (GO:0046952)|liver development (GO:0001889)|response to cadmium ion (GO:0046686)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to growth hormone (GO:0060416)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 3-hydroxybutyrate dehydrogenase activity (GO:0003858)|phospholipid binding (GO:0005543) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCGACGGCCAATCGGGATAA 0.5785536159600998 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF095211 HGNC:1027 Approved gene with protein product protein-coding gene BDH "3-hydroxybutyrate dehydrogenase (heart, mitochondrial)", "3-hydroxybutyrate dehydrogenase, type 1" SDR9C1 "short chain dehydrogenase/reductase family 9C, member 1" 3q29 2016-12-12 2005-11-15 2016-12-12 M93107 1.1.1.30 ENSG00000161267 1639787, 19027726, 21791085 NM_004051 743 Short chain dehydrogenase/reductase superfamily CCDS3328 OTTHUMG00000155478 603063 NM_004051 Q02338 ENSG00000161267 uc003fxu.3 D3DXC0|Q96ET1|Q9BRZ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 622 false 1549FAM193A 8603 __UNKNOWN__ hg19 4 2632732 2632732 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:2632732A>G ENST00000502458.1 + 3 322 c.1A>G c.(1-3)Atg>Gtg p.M1V FAM193A_ENST00000324666.5_START_CODON_SNP_p.M1V|FAM193A_ENST00000382839.3_START_CODON_SNP_p.M1V|FAM193A_ENST00000505311.1_START_CODON_SNP_p.M1V|FAM193A_ENST00000545951.1_START_CODON_SNP_p.M1V P78312 F193A_HUMAN family with sequence similarity 193 member A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGCTGGAGATGAAGGTCCG 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC144340 HGNC:16822 Approved gene with protein product protein-coding gene C4orf8 "chromosome 4 open reading frame 8", "family with sequence similarity 193, member A" RES4-22 4p16.3 2016-10-24 2009-09-04 2015-11-18 AB000459 ENSG00000125386 9734812 NM_003704 CCDS33943, CCDS58874, CCDS58875, CCDS58876 OTTHUMG00000160512 NM_001256666 P78312 ENSG00000125386 uc003gfd.4 B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8603 false 1550SH3BP2 6452 __UNKNOWN__ hg19 4 2835561 2835561 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:2835561A>G ENST00000356331.5 + 13 1947 c.1686A>G c.(1684-1686)tgA>tgG p.*562W SH3BP2_ENST00000511747.1_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000435136.2_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000452765.2_Nonstop_Mutation_p.*562W|SH3BP2_ENST00000442312.2_Nonstop_Mutation_p.*590W|SH3BP2_ENST00000503393.2_Nonstop_Mutation_p.*619W NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3 domain binding protein 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165) SH3/SH2 adaptor activity (GO:0005070) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCCTAGGTGATGGCAGTCCA 0.6408977556109726 __UNKNOWN__ __UNKNOWN__ Cherubism __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease Familial Cancer Database U56386 HGNC:10825 Approved gene with protein product protein-coding gene "Cherubism" RES4-23, CRBM 4p16.3 2016-10-25 2016-04-28 BC022996 ENSG00000087266 9299232, 11381256 NM_003023 682|741 Pleckstrin homology domain containing|SH2 domain containing CCDS33944, CCDS54715, CCDS54716 OTTHUMG00000160801 602104 NM_001122681 P78314 ENSG00000087266 uc003gfi.5 A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6452 false 1551AFAP1 60312 __UNKNOWN__ hg19 4 7765492 7765492 + Nonstop_Mutation SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:7765492C>G ENST00000360265.4 - 16 2428 c.2193G>C c.(2191-2193)taG>taC p.*731Y AFAP1_ENST00000382543.3_Nonstop_Mutation_p.*815Y|AFAP1_ENST00000358461.2_Nonstop_Mutation_p.*731Y|AFAP1_ENST00000420658.1_Nonstop_Mutation_p.*815Y|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000513842.1_Intron Q8N556 AFAP1_HUMAN actin filament associated protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|skin(32)|upper_aerodigestive_tract(1) 124 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCTGTCCCCTAGGTCCCGT 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC032777 HGNC:24017 Approved gene with protein product protein-coding gene AFAP-110, AFAP 4p16.1 2016-10-05 2007-02-07 AB209676 ENSG00000196526 14755689, 11641786, 11607843 NM_021638 682 Pleckstrin homology domain containing CCDS3397, CCDS47010 OTTHUMG00000125515 608252 NM_001134647 Q8N556 ENSG00000196526 uc003gkg.2 A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 60312 false 1552KLB 152831 __UNKNOWN__ hg19 4 39450305 39450305 + Silent SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:39450305A>G ENST00000257408.4 + 5 3231 c.3134A>G c.(3133-3135)tAa>tGa p.*1045* NM_175737.3 NP_783864.1 Q86Z14 KLOTB_HUMAN klotho beta __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553) biliary_tract(2)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|pancreas(22) 70 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTGTTAGCTAAACTGATCTG 0.38902743142144636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC113653 HGNC:15527 Approved gene with protein product protein-coding gene "b-Klotho" 4p14 2016-12-15 AB079373 ENSG00000134962 NM_175737 CCDS3451 OTTHUMG00000128577 611135 NM_175737 Q86Z14 ENSG00000134962 uc003gua.4 Q2M3K8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 152831 false 1553NSUN7 79730 __UNKNOWN__ hg19 4 40810351 40810351 + Nonstop_Mutation SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:40810351A>T ENST00000316607.5 + 11 1895 c.1428A>T c.(1426-1428)tgA>tgT p.*476C NSUN7_ENST00000381782.2_Missense_Mutation_p.N518Y|RP11-632F7.3_ENST00000513127.1_5'Flank Q8NE18 NSUN7_HUMAN NOP2/Sun RNA methyltransferase family member 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ methyltransferase activity (GO:0008168)|RNA binding (GO:0003723) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(1) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTGTCTGTGAATGATGTTTT 0.38403990024937656 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC036568 HGNC:25857 Approved gene with protein product protein-coding gene "NOL1/NOP2/Sun domain family, member 7", "NOP2/Sun domain family, member 7" FLJ14001 4p14 2015-11-17 2015-11-17 BC036568 ENSG00000179299 17442852 NM_024677 664 NOP2/Sun RNA methyltransferase family CCDS3461, CCDS82917 OTTHUMG00000128597 617185 NM_024677 Q8NE18 ENSG00000179299 uc003gvj.4 C9JI19|Q8N9K8|Q9H815 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79730 false 1554LIMCH1 22998 __UNKNOWN__ hg19 4 41663502 41663503 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:41663502_41663503insT ENST00000514096.1 + 8 1690 c.1470_1471insT c.(1471-1473)gggfs p.G491fs LIMCH1_ENST00000313860.7_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000512946.1_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000508501.1_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000396595.3_Frame_Shift_Ins_p.G496fs|LIMCH1_ENST00000381753.4_Frame_Shift_Ins_p.G484fs|LIMCH1_ENST00000503057.1_Frame_Shift_Ins_p.G1035fs|LIMCH1_ENST00000513024.1_Frame_Shift_Ins_p.G479fs|LIMCH1_ENST00000512820.1_Frame_Shift_Ins_p.G638fs|LIMCH1_ENST00000512632.1_Frame_Shift_Ins_p.G650fs|LIMCH1_ENST00000509277.1_Frame_Shift_Ins_p.G484fs|LIMCH1_ENST00000511496.1_Frame_Shift_Ins_p.G491fs Q9UPQ0 LIMC1_HUMAN LIM and calponin homology domains 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ actomyosin structure organization (GO:0031032) zinc ion binding (GO:0008270) central_nervous_system(22)|lung(1) 23 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCAAGAAAAGGGAATATAG 0.39 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC124009 HGNC:29191 Approved gene with protein product protein-coding gene DKFZP686A01247, LIMCH1A, LMO7B 4p13 2015-08-25 2008-01-09 AB029025 ENSG00000064042 10470851 NM_014988 1218 LIM domain containing CCDS33977, CCDS47047, CCDS54763, CCDS54764, CCDS54765, CCDS75119, CCDS75121, CCDS82919, CCDS82920 OTTHUMG00000160575 617750 NM_001112717 Q9UPQ0 ENSG00000064042 uc003gvu.6 A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22998 false 1555ATP10D 57205 __UNKNOWN__ hg19 4 47593397 47593397 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:47593397A>G ENST00000273859.3 + 23 4549 c.4280A>G c.(4279-4281)tAg>tGg p.*1427W NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase phospholipid transporting 10D (putative) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085) endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(1)|large_intestine(11)|lung(1)|oesophagus(1)|pancreas(22) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGAAAGCTAGATACCCTCC 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471069 HGNC:13549 Approved gene with protein product protein-coding gene "ATPase, Class V, type 10D" ATPVD, KIAA1487 4p12 2016-06-28 2016-02-11 AB040920 ENSG00000145246 12532265 NM_020453 1210 ATPase phospholipid transporting CCDS3476 OTTHUMG00000160784 NM_020453 Q9P241 ENSG00000145246 uc003gxk.2 A2RRC8|D6REN2|Q8NC70|Q96SR3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57205 false 1556SRP72 6731 __UNKNOWN__ hg19 4 57350953 57350954 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:57350953_57350954insG ENST00000342756.5 + 10 1730 c.1009_1010insG c.(1009-1011)catfs p.H337fs SRP72_ENST00000510663.1_Frame_Shift_Ins_p.H276fs NM_006947.3 NP_008878.3 O76094 SRP72_HUMAN signal recognition particle 72 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412) cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786) 7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(1) 115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGTCCCGAGCATCTCTTACC 0.3725 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471057 HGNC:11303 Approved gene with protein product protein-coding gene "signal recognition particle 72kDa" 4q12 2016-10-05 2016-06-22 AF069765 ENSG00000174780 9224693, 9857079 769 Tetratricopeptide repeat domain containing CCDS3506, CCDS58898 OTTHUMG00000128843 602122 NM_001267722 O76094 ENSG00000174780 uc003hbv.4 G5E9Z8|Q7Z3C0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6731 false 1557TMPRSS11A 339967 __UNKNOWN__ hg19 4 68829109 68829109 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:68829109C>T ENST00000334830.7 - 1 750 c.3G>A c.(1-3)atG>atA p.M1I TMPRSS11A_ENST00000508048.1_5'UTR|TMPRSS11A_ENST00000396188.2_START_CODON_SNP_p.M1I|UBA6-AS1_ENST00000500538.2_RNA Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell cycle (GO:0007049) extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887) serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGATACATCATGTACAGGA 0.371571072319202 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(26;2 894 10941 14480 22546) BN000133 HGNC:27954 Approved gene with protein product protein-coding gene ECRG1 4q13.2 2014-11-19 AF071882 ENSG00000187054 15328353 NM_182606 738 Proteases, serine CCDS3519, CCDS47065 OTTHUMG00000129303 611704 NM_001114387 Q6ZMR5 ENSG00000187054 uc003hdr.2 J3KNQ8|Q2NKI9|Q6JE90|Q7RTY4|Q86TK8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 339967 false 1558TMPRSS11B 132724 __UNKNOWN__ hg19 4 69093631 69093631 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:69093631A>C ENST00000332644.5 - 10 1411 c.1249T>G c.(1249-1251)Tga>Gga p.*417G NM_182502.3 NP_872308.2 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887) serine-type endopeptidase activity (GO:0004252) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTTTTTTTCAGAGTCCAGTC 0.3092269326683292 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX537945 HGNC:25398 Approved gene with protein product protein-coding gene 4q13.2 2014-11-19 BX537945 ENSG00000185873 NM_182502 738 Proteases, serine CCDS3521 OTTHUMG00000129301 NM_182502 Q86T26 ENSG00000185873 uc003hdw.5 A8K4D9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 132724 false 1559UGT2A1 10941 __UNKNOWN__ hg19 4 70513361 70513361 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:70513361A>G ENST00000503640.1 - 1 58 c.2T>C c.(1-3)aTg>aCg p.M1T UGT2A1_ENST00000514019.1_START_CODON_SNP_p.M1T|UGT2A1_ENST00000512704.1_START_CODON_SNP_p.M1T|UGT2A1_ENST00000286604.4_START_CODON_SNP_p.M1T NM_006798.3 NP_006789.2 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase family 2 member A1 complex locus __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608) integral component of membrane (GO:0016021) glucuronosyltransferase activity (GO:0015020) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTTGTTTAACATGATGTGGCT 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FJ664273 HGNC:12542 Approved gene with protein product protein-coding gene "UDP glycosyltransferase 2 family, polypeptide A1", "UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus" 4q13.3 2016-03-01 2016-03-01 AJ006054 ENSG00000173610 10359671 NM_006798 363 UDP glucuronosyltransferases CCDS3529, CCDS58901, CCDS58902, CCDS77925 OTTHUMG00000184942 604716 NM_001252274 Q9Y4X1 ENSG00000173610 uc062xbf.1 B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10941 false 1560CABS1 85438 __UNKNOWN__ hg19 4 71201943 71201943 + Silent SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:71201943A>G ENST00000273936.5 + 1 1261 c.1187A>G c.(1186-1188)tAa>tGa p.*396* NM_033122.3 NP_149113.3 Q96KC9 CABS1_HUMAN calcium binding protein, spermatid associated 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ spermatogenesis (GO:0007283) mitochondrial inner membrane (GO:0005743)|motile cilium (GO:0031514) calcium ion binding (GO:0005509) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCATGATTTAAAAGCAACAA 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471057 HGNC:30710 Approved gene with protein product protein-coding gene C4orf35 "chromosome 4 open reading frame 35", "calcium-binding protein, spermatid-specific 1" NYD-SP26, FLJ32897, CLPH "casein-like phosphoprotein" 4q13.3 2016-02-29 2011-01-25 2016-02-29 AF380838 ENSG00000145309 19208547, 19271754 NM_033122 CCDS3539 OTTHUMG00000129405 NM_033122 Q96KC9 ENSG00000145309 uc003hff.4 B2RCB5|Q86UE0|Q96M17 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 85438 false 1561PROL1 __UNKNOWN__ hg19 4 71275790 71275790 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:71275790T>C ENST00000399575.2 + 3 919 c.745T>C c.(745-747)Tga>Cga p.*249R NM_021225.4 NP_067048.4 Q99935 PROL1_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895) extracellular region (GO:0005576)|extracellular space (GO:0005615) endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414) biliary_tract(2)|breast(32)|central_nervous_system(44)|large_intestine(35)|pancreas(22)|upper_aerodigestive_tract(1) 136 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTTTTGGTTGAACATGCAA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ S83198 A8MZ07|P85047 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1562ALB 213 __UNKNOWN__ hg19 4 74270123 74270123 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:74270123C>T ENST00000503124.1 + 1 ALB_ENST00000295897.4_Splice_Site_p.H27Y|ALB_ENST00000509063.1_Splice_Site_p.H27Y|ALB_ENST00000401494.3_Splice_Site_p.H27Y|ALB_ENST00000415165.2_Splice_Site_p.H27Y|ALB_ENST00000505649.1_5'Flank Q8TES7 FBF1_HUMAN albumin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162) cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCGAGATGCACGTAAGAAATC 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC108157 HGNC:399 Approved gene with protein product protein-coding gene 4q13.3 2014-11-18 2006-06-30 2006-06-30 V00494 ENSG00000163631 6292049, 6192711 NM_000477 CCDS3555 OTTHUMG00000129919 103600 NM_000477 P02768 ENSG00000163631 uc003hgs.5 B5MEM5|Q96IF6|Q96JG4|Q96MA8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 213 false 1563CXCL10 3627 __UNKNOWN__ hg19 4 76943085 76943085 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:76943085A>G ENST00000306602.1 - 4 361 c.295T>C c.(295-297)Taa>Caa p.*99Q ART3_ENST00000341029.5_Intron NM_001565.3 NP_001556.2 P02778 CXL10_HUMAN C-X-C motif chemokine ligand 10 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to heat (GO:0034605)|cellular response to lipopolysaccharide (GO:0071222)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of T cell migration (GO:2000406)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein secretion (GO:0009306)|regulation of cell proliferation (GO:0042127)|regulation of protein kinase activity (GO:0045859)|response to auditory stimulus (GO:0010996)|response to cold (GO:0009409)|response to gamma radiation (GO:0010332)|response to vitamin D (GO:0033280)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818) external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615) cAMP-dependent protein kinase regulator activity (GO:0008603)|chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTGGTTTTAAGGAGATCTT 0.4164588528678304 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X02530 HGNC:10637 Approved gene with protein product protein-coding gene INP10, SCYB10 "small inducible cytokine subfamily B (Cys-X-Cys), member 10", "chemokine (C-X-C motif) ligand 10" IFI10, IP-10, crg-2, mob-1, C7, gIP-10 4q21.1 2016-10-05 2002-08-23 2016-03-01 X02530 ENSG00000169245 2437586, 3925348 542|483 Endogenous ligands|Chemokine ligands CCDS43240 OTTHUMG00000160887 147310 NM_001565 P02778 ENSG00000169245 uc003hjl.5 Q96QJ5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3627 false 1564CXCL11 6373 __UNKNOWN__ hg19 4 76955947 76955947 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:76955947T>A ENST00000503860.1 - 5 663 c.284A>T c.(283-285)tAa>tTa p.*95L CXCL11_ENST00000306621.3_Nonstop_Mutation_p.*95L|ART3_ENST00000341029.5_Intron O14625 CXL11_HUMAN C-X-C motif chemokine ligand 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell-cell signaling (GO:0007267)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)|T cell chemotaxis (GO:0010818) extracellular region (GO:0005576)|extracellular space (GO:0005615) chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|heparin binding (GO:0008201) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGATATTTTTAAAAATTCTT 0.34663341645885287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(31;57 931 1690 18027 37686) Y15221 HGNC:10638 Approved gene with protein product protein-coding gene SCYB9B, SCYB11 "small inducible cytokine subfamily B (Cys-X-Cys), member 11", "chemokine (C-X-C motif) ligand 11" H174, b-R1, I-TAC, IP-9 4q21.1 2016-10-05 2002-08-23 2016-03-01 U66096 ENSG00000169248 9730616 542|483 Endogenous ligands|Chemokine ligands CCDS3574 OTTHUMG00000130101 604852 NM_001302123 O14625 ENSG00000169248 uc062xkv.1 Q53YA3|Q92840 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6373 false 1565C4orf36 132989 __UNKNOWN__ hg19 4 87812672 87812672 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:87812672A>G ENST00000473559.1 - 5 666 c.2T>C c.(1-3)aTg>aCg p.M1T C4orf36_ENST00000295898.3_START_CODON_SNP_p.M1T|C4orf36_ENST00000503001.1_Intron Q96KX1 CD036_HUMAN chromosome 4 open reading frame 36 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATACGCCATGGTGAGTTA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC016746 HGNC:28386 Approved gene with protein product protein-coding gene MGC26744 4q21.3 2016-09-30 BC016746 ENSG00000163633 12477932 NM_144645 CCDS3615 OTTHUMG00000130597 NM_144645 Q96KX1 ENSG00000163633 uc062xzo.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 132989 false 1566SPARCL1 8404 __UNKNOWN__ hg19 4 88416233 88416233 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:88416233G>A ENST00000503414.1 - 4 SPARCL1_ENST00000282470.6_Missense_Mutation_p.T34M|SPARCL1_ENST00000418378.1_Missense_Mutation_p.T34M Q14515 SPRL1_HUMAN SPARC like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ signal transduction (GO:0007165) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGCTACCGTTTCAGCAGT 0.3117206982543641 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AK304494 HGNC:11220 Approved gene with protein product protein-coding gene "SPARC-like 1 (mast9, hevin)" MAST9 "hevin" 4q22.1 2016-10-05 2015-11-13 X86693 ENSG00000152583 8488563, 7600298, 16844696 1278 SPARC family CCDS3622, CCDS77939 OTTHUMG00000130605 606041 NM_001128310 Q14515 ENSG00000152583 uc003hqs.5 B4E2Z0|E7ESU2|Q14800 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8404 false 1567MMRN1 22915 __UNKNOWN__ hg19 4 90830509 90830509 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:90830509G>T ENST00000508372.1 + 2 MMRN1_ENST00000394980.1_Nonsense_Mutation_p.G236*|MMRN1_ENST00000264790.2_Nonsense_Mutation_p.G236*|MMRN1_ENST00000394981.1_Nonsense_Mutation_p.G202* Q13201 MMRN1_HUMAN multimerin 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(3)|oesophagus(4)|pancreas(22) 98 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGTGGGAAAGGACCTTGTGG 0.3566084788029925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC093759 HGNC:7178 Approved gene with protein product protein-coding gene MMRN "multimerin" ECM, EMILIN4, GPIa* "glycoprotein Ia*" 4q22.1 2016-10-05 2004-03-02 2004-03-02 U27109 ENSG00000138722 7629143, 10828608 NM_007351 540 EMI domain containing CCDS3635 OTTHUMG00000130947 601456 NM_007351 Q13201 ENSG00000138722 uc003hst.4 Q4W5L1|Q6P3T8|Q6ZUL9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22915 false 1568ENPEP 2028 __UNKNOWN__ hg19 4 111434635 111434636 + Frame_Shift_Ins INS - - CG __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:111434635_111434636insCG ENST00000265162.5 + 7 1715 c.1373_1374insCG c.(1372-1374)catfs p.P459fs RP11-380D23.1_ENST00000503998.1_RNA NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886) aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|lung(1)|pancreas(22) 154 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTCTTCGCATCCAATTATT 0.325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L14721 HGNC:3355 Approved gene with protein product protein-coding gene "glutamyl aminopeptidase (aminopeptidase A)" gp160, CD249 4q25 2016-01-06 2016-01-06 L12468 3.4.11.7 ENSG00000138792 9268642 471|1437|104 CD molecules|M1 metallopeptidases|Aminopeptidases CCDS3691 OTTHUMG00000132546 138297 NM_001977 Q07075 ENSG00000138792 uc003iab.5 Q504U2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2028 false 1569BBS7 55212 __UNKNOWN__ hg19 4 122747017 122747017 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:122747017A>G ENST00000264499.4 - 19 2330 c.2146T>C c.(2146-2148)Tga>Cga p.*716R CCNA2_ENST00000274026.5_5'Flank NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601) axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886) RNA polymerase II repressing transcription factor binding (GO:0001103) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTGTATGTCATGCTGCATCG 0.2743142144638404 __UNKNOWN__ __UNKNOWN__ Bardet-Biedl syndrome __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome Familial Cancer Database BC032691 HGNC:18758 Approved gene with protein product protein-coding gene FLJ10715, BBS2L1 4q27 2016-10-25 AF521644 ENSG00000138686 980|1122 Bardet-Biedl syndrome associated|BBSome CCDS3724, CCDS54799 OTTHUMG00000133076 607590 NM_018190 Q8IWZ6 ENSG00000138686 uc003ied.4 Q4W5P8|Q8N581|Q9NVI4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55212 false 1570FAT4 79633 __UNKNOWN__ hg19 4 126370567 126370568 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:126370567_126370568insC ENST00000394329.3 + 9 8409 c.8396_8397insC c.(8395-8397)gaafs p.E2799fs FAT4_ENST00000335110.5_Frame_Shift_Ins_p.E1097fs NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307) apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) biliary_tract(27)|breast(15)|central_nervous_system(44)|cervix(15)|haematopoietic_and_lymphoid_tissue(584)|large_intestine(206)|lung(106)|pancreas(26)|pituitary(4)|skin(3)|stomach(95)|upper_aerodigestive_tract(121) 1246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCTGATGAAGACATTGGG 0.385 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY356402 HGNC:23109 Approved gene with protein product protein-coding gene "FAT tumor suppressor homolog 4 (Drosophila)" CDHF14, FAT-J, CDHR11 "cadherin-related family member 11" 4q28.1 2015-09-01 2013-05-31 AY356402 ENSG00000196159 15003449 NM_024582 24 Cadherin related CCDS3732 OTTHUMG00000133100 612411 NM_001291285 Q6V0I7 ENSG00000196159 uc003ifj.5 A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79633 false 1571SLC25A31 83447 __UNKNOWN__ hg19 4 128651703 128651703 + START_CODON_SNP SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:128651703G>T ENST00000281154.4 + 1 171 c.3G>T c.(1-3)atG>atT p.M1I NM_031291.2 NP_112581.1 Q9H0C2 ADT4_HUMAN solute carrier family 25 member 31 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ transmembrane transport (GO:0055085) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634) transporter activity (GO:0005215) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTCCATCATGCATCGTGAGC 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471056 HGNC:25319 Approved gene with protein product protein-coding gene "solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31" DKFZP434N1235, ANT4 4q28.1 2016-10-05 2016-02-18 AL136857 ENSG00000151475 15670820 NM_031291 752 Solute carriers CCDS3733 OTTHUMG00000133300 610796 NM_001318467 Q9H0C2 ENSG00000151475 uc003ifl.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 83447 false 1572SCLT1 132320 __UNKNOWN__ hg19 4 129805634 129805634 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:129805634A>G ENST00000281142.5 - 21 2569 c.2065T>C c.(2065-2067)Taa>Caa p.*689Q SCLT1_ENST00000503215.1_Nonstop_Mutation_p.*285Q|SCLT1_ENST00000439369.2_Nonstop_Mutation_p.*176Q|SCLT1_ENST00000434680.1_Nonstop_Mutation_p.*308Q|SCLT1_ENST00000502495.1_Intron NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630) sodium channel regulator activity (GO:0017080) biliary_tract(2)|breast(185)|central_nervous_system(44)|large_intestine(12)|lung(134)|ovary(58)|pancreas(30)|prostate(58) 523 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATATTTTTAAATATTTTCC 0.3341645885286783 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471056 HGNC:26406 Approved gene with protein product protein-coding gene hCAP-1A, FLJ30655 4q28.2 2014-11-19 AK055217 ENSG00000151466 15797711 NM_144643 CCDS3740, CCDS77957, CCDS77958 OTTHUMG00000133346 611399 NM_001300897 Q96NL6 ENSG00000151466 uc003igp.3 A4QN04|Q0VAH2|Q6P2M4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 132320 false 1573C4orf33 132321 __UNKNOWN__ hg19 4 130032945 130032945 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:130032945A>G ENST00000281146.5 + 6 1320 c.599A>G c.(598-600)tAg>tGg p.*200W C4orf33_ENST00000425929.1_Nonstop_Mutation_p.*200W NM_173487.2 NP_775758.2 Q8N1A6 CD033_HUMAN chromosome 4 open reading frame 33 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGATATATAGGAGTAATAG 0.30174563591022446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471056 HGNC:27025 Approved gene with protein product protein-coding gene FLJ33703 4q28.2 2016-09-30 AK091022 ENSG00000151470 12477932 NM_173487 CCDS3741 OTTHUMG00000133347 NM_001099783 Q8N1A6 ENSG00000151470 uc003igu.5 D3DNY2|Q6PJF3|Q8NBC5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 132321 false 1574FREM3 166752 __UNKNOWN__ hg19 4 144618679 144618680 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:144618679_144618680insC ENST00000329798.5 - 1 3150 c.3149_3150insG c.(3148-3150)aatfs p.N1050fs RP13-578N3.3_ENST00000499587.2_5'Flank NM_001168235.1 NP_001161707.1 P0C091 FREM3_HUMAN FRAS1 related extracellular matrix 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155)|cell communication (GO:0007154) basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021) metal ion binding (GO:0046872) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTATGCTATTCCCCACTA 0.4775 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC139713 HGNC:25172 Approved gene with protein product protein-coding gene 4q31.21 2015-09-11 BX091796 ENSG00000183090 15345741 XM_094074 CCDS54808 OTTHUMG00000161577 608946 NM_001168235 P0C091 ENSG00000183090 uc021xsj.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 166752 false 1575PRSS48 345062 __UNKNOWN__ hg19 4 152212603 152212603 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:152212603T>G ENST00000455694.2 + 5 987 c.985T>G c.(985-987)Taa>Gaa p.*329E PRSS48_ENST00000441586.2_Nonstop_Mutation_p.*186E|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine 48 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252) breast(32)|large_intestine(35) 67 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGGGGCAGATAACTCACAGG 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BN000134 HGNC:24635 Approved gene with protein product protein-coding gene ESSPL 4q31.3 2015-11-16 2015-11-16 BN000134 ENSG00000189099 12838346 NM_183375 738 Proteases, serine CCDS47145 OTTHUMG00000161673 NM_183375 Q7RTY5 ENSG00000189099 uc011cif.3 Q08E82|Q0VAD4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 345062 false 1576DCHS2 54798 __UNKNOWN__ hg19 4 155407595 155407595 + Nonstop_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:155407595C>A ENST00000456341.2 - 2 2109 c.2109G>T c.(2107-2109)taG>taT p.*703Y DCHS2_ENST00000339452.1_Intron|DCHS2_ENST00000443500.1_Nonstop_Mutation_p.*710Y Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) biliary_tract(2)|breast(13)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(197)|lung(103)|pancreas(22) 485 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACAGGAAATCTAGGCAAGAT 0.4139650872817955 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY354498 HGNC:23111 Approved gene with protein product protein-coding gene CDH27, PCDH23 "cadherin-like 27", "dachsous 2 (Drosophila)" CDHJ, FLJ20047, PCDHJ, CDHR7 "cadherin-related family member 7" 4q31.3 2016-10-05 2004-09-03 2013-10-04 BC140919 ENSG00000197410 15003449 NM_001142552 24 Cadherin related CCDS3785, CCDS47150 OTTHUMG00000161556 612486 NM_001142552 Q6V1P9 ENSG00000197410 uc003inw.2 B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 54798 false 1577MAP9 79884 __UNKNOWN__ hg19 4 156274490 156274491 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:156274490_156274491insC ENST00000311277.4 - 11 1647 c.1382_1383insG c.(1381-1383)aaafs p.A463fs MAP9_ENST00000515654.1_Frame_Shift_Ins_p.A439fs|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000417474.1_5'Flank|AC097467.2_ENST00000594492.1_5'Flank|AC097467.2_ENST00000594666.1_5'Flank|AC097467.2_ENST00000596165.1_5'Flank|AC097467.2_ENST00000596754.1_5'Flank|AC097467.2_ENST00000597831.1_5'Flank|AC097467.2_ENST00000598890.1_5'Flank|AC097467.2_ENST00000600928.1_5'Flank NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule associated protein 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307) astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAGCTTTTTTCTACAGTG 0.2825 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR749274 HGNC:26118 Approved gene with protein product protein-coding gene ASAP, FLJ21159 "aster-associated protein" 4q32.1 2015-11-16 2015-11-16 AK024812 ENSG00000164114 16049101 NM_001039580 CCDS35493 OTTHUMG00000133628 610070 NM_001039580 Q49MG5 ENSG00000164114 uc003ios.4 Q4W5I7|Q68DU1|Q9H781|Q9H7B6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79884 false 1578DDX60L 91351 __UNKNOWN__ hg19 4 169279300 169279300 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:169279300A>G ENST00000511577.1 - 38 5367 c.5119T>C c.(5119-5121)Taa>Caa p.*1707Q DDX60L_ENST00000260184.7_Nonstop_Mutation_p.*1707Q Q5H9U9 DDX6L_HUMAN DExD/H-box 60 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATGGTGTTATTCTAAATGA 0.2892768079800499 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR933601 HGNC:26429 Approved gene with protein product protein-coding gene "DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like" FLJ31033 4q32.3 2017-09-12 2017-09-12 AK092461 ENSG00000181381 26269178 NM_001012967 1559 Ski2 like RNA helicases CCDS47161 OTTHUMG00000161412 616725 NM_001012967 Q5H9U9 ENSG00000181381 uc003irq.5 Q96ND6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 91351 false 1579TRAPPC11 60684 __UNKNOWN__ hg19 4 184633795 184633795 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:184633795T>C ENST00000334690.6 + 30 3602 c.3400T>C c.(3400-3402)Tga>Cga p.*1134R TRAPPC11_ENST00000512476.1_Nonstop_Mutation_p.*740R|TRAPPC11_ENST00000357207.4_3'UTR NM_021942.5 NP_068761.4 Q7Z392 TPC11_HUMAN trafficking protein particle complex 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ vesicle-mediated transport (GO:0016192) Golgi apparatus (GO:0005794) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTGCTGCATGATGTTCAAG 0.3316708229426434 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533553 HGNC:25751 Approved gene with protein product protein-coding gene C4orf41 "chromosome 4 open reading frame 41" FLJ12716, gry, foigr "gryzun homolog (Drosophila)", "foie gras homolog (zebrafish)" 4q35.1 2014-11-19 2011-12-12 2011-12-12 ENSG00000168538 19942856, 21525244 NM_021942 772 Trafficking protein particle complex CCDS34112, CCDS47166 OTTHUMG00000160673 614138 NM_021942 Q7Z392 ENSG00000168538 uc003ivx.4 A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 60684 false 1580MLF1IP __UNKNOWN__ hg19 4 185655214 185655214 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr4:185655214C>T ENST00000281453.5 - 1 74 c.3G>A c.(1-3)atG>atA p.M1I MLF1IP_ENST00000541971.1_START_CODON_SNP_p.M1I NM_024629.3 NP_078905.2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCGCGGGGCCATGGTGCCGC 0.7007481296758105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457376 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1581FAM173B 134145 __UNKNOWN__ hg19 5 10235354 10235355 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:10235354_10235355insC ENST00000511437.1 - 4 477 c.463_464insG c.(463-465)tcgfs p.S155fs FAM173B_ENST00000510047.1_Intron|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_Intron NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173 member B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAACGTTCGAGTACTGCGA 0.42 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471102 HGNC:27029 Approved gene with protein product protein-coding gene "family with sequence similarity 173, member B" JS-2 5p15.2 2017-01-04 2015-11-18 ENSG00000150756 12477932 NM_199133 1400 Seven-beta-strand methyltransferase motif containing CCDS43301, CCDS58942 OTTHUMG00000161771 NM_001258388 Q6P4H8 ENSG00000150756 uc003jeo.4 B4DT41|B4DXK2|E9PBZ4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 134145 false 1582TARS 6897 __UNKNOWN__ hg19 5 33441193 33441193 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:33441193A>G ENST00000455217.2 + 1 123 c.1A>G c.(1-3)Atg>Gtg p.M1V TARS_ENST00000265112.3_START_CODON_SNP_p.M1V|TARS_ENST00000502553.1_START_CODON_SNP_p.M1V|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000541634.1_5'UTR|CTD-2203K17.1_ENST00000507251.1_5'Flank NM_001258438.1 NP_001245367.1 P26639 SYTC_HUMAN threonyl-tRNA synthetase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418) actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Threonine(DB00156) TCGTTCGCCAATGTTTGAGGA 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M63180 HGNC:11572 Approved gene with protein product protein-coding gene "threonine tRNA ligase 1, cytoplasmic" 5p13.3 2016-10-05 AK095852 6.1.1.3 ENSG00000113407 NM_152295 132 Aminoacyl tRNA synthetases, Class II CCDS3899, CCDS58943 OTTHUMG00000090683 187790 NM_001258437 P26639 ENSG00000113407 uc003jhy.5 A8K8I1|B4DEG8|Q96FP5|Q9BWA6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6897 false 1583NADK2 133686 __UNKNOWN__ hg19 5 36227619 36227619 + DE_NOVO_START_OUT_FRAME SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:36227619T>C ENST00000506945.1 - 2 NADK2_ENST00000381937.4_Missense_Mutation_p.I117V|NADK2_ENST00000397338.1_DE_NOVO_START_OUT_FRAME|NADK2_ENST00000282512.3_DE_NOVO_START_OUT_FRAME|NADK2_ENST00000514504.1_Missense_Mutation_p.I117V Q4G0N4 NAKD2_HUMAN NAD kinase 2, mitochondrial __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741) mitochondrion (GO:0005739) ATP binding (GO:0005524)|NAD+ kinase activity (GO:0003951)|protein homodimerization activity (GO:0042803) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGGTGTGAATATGATGTCGT 0.2817955112219451 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC032912 HGNC:26404 Approved gene with protein product protein-coding gene C5orf33, NADKD1 "chromosome 5 open reading frame 33", "NAD kinase domain containing 1" FLJ30596, MNADK "mitochondrial NAD kinase" 5p13.2 2016-01-27 2013-04-30 2013-04-30 BC062567 2.7.1.23 ENSG00000152620 23616928 NM_153013 CCDS3917, CCDS47197, CCDS75235 OTTHUMG00000131105 615787 NM_001085411 Q4G0N4 ENSG00000152620 B5MC93|Q6UTX5|Q96NM0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 133686 false 1584CCL28 56477 __UNKNOWN__ hg19 5 43388500 43388500 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:43388500A>T ENST00000513525.1 - 2 309 c.2T>A c.(1-3)aTg>aAg p.M1K CCL28_ENST00000361115.4_Missense_Mutation_p.M48K|CCL28_ENST00000537013.1_Missense_Mutation_p.M48K Q9NRJ3 CCL28_HUMAN C-C motif chemokine ligand 28 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell chemotaxis (GO:0060326)|chemotaxis (GO:0006935)|immune response (GO:0006955)|negative regulation of leukocyte tethering or rolling (GO:1903237)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|response to nutrient (GO:0007584) extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062) chemokine activity (GO:0008009) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATGCGACACATATTCACTCT 0.4239401496259352 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Esophageal Squamous(178;1549 1997 2043 22794 27051) CH471119 HGNC:17700 Approved gene with protein product protein-coding gene "chemokine (C-C motif) ligand 28" SCYA28, MEC, CCK1 "CC chemokine CCL28", "mucosae-associated epithelial chemokine", "small inducible cytokine subfamily A (Cys-Cys), member 28", "small inducible cytokine A28" 5p12 2016-03-01 2016-03-01 AF110384 ENSG00000151882 10781587, 11295038 NM_148672 542|483 Endogenous ligands|Chemokine ligands CCDS3944, CCDS78006 OTTHUMG00000094811 605240 NM_001301873 Q9NRJ3 ENSG00000151882 uc003jnu.4 D7RIE7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56477 false 1585NNT 23530 __UNKNOWN__ hg19 5 43656769 43656770 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:43656769_43656770insT ENST00000264663.5 + 16 2529 c.2308_2309insT c.(2308-2310)gccfs p.A770fs NNT_ENST00000344920.4_Frame_Shift_Ins_p.A770fs|NNT_ENST00000512996.2_Frame_Shift_Ins_p.A639fs NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099) integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739) NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGAAATCTGCCCCTCTCCT 0.415 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z50101 HGNC:7863 Approved gene with protein product protein-coding gene 5p12 2014-11-19 U40490 1.6.1.1 ENSG00000112992 9271681, 9524818 NM_182977 CCDS3949, CCDS82994 OTTHUMG00000096961 607878 NM_012343 Q13423 ENSG00000112992 uc003joe.4 Q16796|Q2TB60|Q8N3V4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 23530 false 1586MRPS30 10884 __UNKNOWN__ hg19 5 44809066 44809066 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:44809066T>C ENST00000507110.1 + 1 40 c.2T>C c.(1-3)aTg>aCg p.M1T RP11-53O19.1_ENST00000503179.1_5'Flank|RP11-53O19.1_ENST00000503452.1_5'Flank|RP11-53O19.1_ENST00000505302.1_5'Flank|RP11-53O19.1_ENST00000505401.1_5'Flank|RP11-53O19.1_ENST00000505637.1_5'Flank|RP11-53O19.1_ENST00000508123.1_5'Flank|RP11-53O19.1_ENST00000508945.1_5'Flank|RP11-53O19.1_ENST00000514597.1_5'Flank NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|translation (GO:0006412) mitochondrion (GO:0005739)|ribosome (GO:0005840) poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(2)|pancreas(22) 184 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGGGCAAAGATGGCGGCGGCC 0.5910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC007735 HGNC:8769 Approved gene with protein product protein-coding gene PDCD9 PAP 5p12 2016-10-05 2001-11-09 AF146192 ENSG00000112996 10640817, 11279123 NM_016640 646 Mitochondrial ribosomal proteins CCDS3951 OTTHUMG00000096967 611991 NM_016640 Q9NP92 ENSG00000112996 uc003joh.4 Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10884 false 1587GZMK 3003 __UNKNOWN__ hg19 5 54329753 54329754 + Nonstop_Mutation DEL AA AA - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:54329753_54329754delAA ENST00000231009.2 + 5 863_864 c.794_795delAA c.(793-795)taafs p.*265fs CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000596137.1_5'Flank|CTD-2313F11.1_ENST00000609792.1_5'Flank NM_002104.2 NP_002095.1 P49863 GRAK_HUMAN granzyme K __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATACAAATTAAGTTACAAATA 0.39800995024875624 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U35237 HGNC:4711 Approved gene with protein product protein-coding gene "granzyme K (serine protease, granzyme 3; tryptase II)", "granzyme K (granzyme 3; tryptase II)" TRYP2, PRSS "tryptase II" 5q11.2 2015-11-16 2015-11-16 BC035802 ENSG00000113088 7758581 NM_002104 CCDS3964 OTTHUMG00000097009 600784 NM_002104 P49863 ENSG00000113088 uc003jpl.2 B2R563 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3003 false 1588AGGF1 55109 __UNKNOWN__ hg19 5 76342200 76342201 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:76342200_76342201insA ENST00000312916.7 + 6 1281 c.899_900insA c.(898-900)ttcfs p.F300fs NM_018046.4 NP_060516.2 Q8N302 AGGF1_HUMAN angiogenic factor with G-patch and FHA domains 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570) cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471) nucleic acid binding (GO:0003676) biliary_tract(27)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(1) 140 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAAAGCCTTCAGTGTTGAA 0.3725 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U84971 HGNC:24684 Approved gene with protein product protein-coding gene VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7 5q13.3 2015-11-13 2015-11-13 AK001145 ENSG00000164252 18564129, 17103452 NM_018046 579 G-patch domain containing CCDS4035 OTTHUMG00000102132 608464 NM_018046 Q8N302 ENSG00000164252 uc003ket.4 O00581|Q53YS3|Q9BU84|Q9NW66 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55109 false 1589FAM81B 153643 __UNKNOWN__ hg19 5 94785984 94785984 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:94785984T>C ENST00000283357.5 + 10 1403 c.1357T>C c.(1357-1359)Taa>Caa p.*453Q NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81 member B __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGGAAGTATAAACCTTTTC 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC034772 HGNC:26335 Approved gene with protein product protein-coding gene "family with sequence similarity 81, member B" FLJ25333 5q15 2016-09-30 2015-11-18 ENSG00000153347 NM_152548 CCDS43341 OTTHUMG00000162837 NM_152548 Q96LP2 ENSG00000153347 uc003kla.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 153643 false 1590SLCO4C1 353189 __UNKNOWN__ hg19 5 101572564 101572564 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:101572564A>G ENST00000310954.6 - 13 2460 c.2173T>C c.(2173-2175)Tga>Cga p.*725R NM_180991.4 NP_851322.3 solute carrier organic anion transporter family member 4C1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(120)|urinary_tract(1) 211 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCCATTTCACCCTTCTTTT 0.3192019950124688 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471086 HGNC:23612 Approved gene with protein product protein-coding gene "solute carrier organic anion transporter family, member 4C1" SLC21A20, OATP4C1, OATPX, OATP-H 5q21.1 2016-10-05 2015-11-18 AY273896 ENSG00000173930 NM_180991 752 Solute carriers CCDS34205 OTTHUMG00000162757 609013 NM_180991 Q6ZQN7 ENSG00000173930 uc003knm.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353189 false 1591SLCO4C1 353189 __UNKNOWN__ hg19 5 101631965 101631965 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:101631965A>G ENST00000310954.6 - 1 289 c.2T>C c.(1-3)aTg>aCg p.M1T NM_180991.4 NP_851322.3 solute carrier organic anion transporter family member 4C1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(120)|urinary_tract(1) 211 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCGCTCTTCATGTCTGGATG 0.6259351620947631 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471086 HGNC:23612 Approved gene with protein product protein-coding gene "solute carrier organic anion transporter family, member 4C1" SLC21A20, OATP4C1, OATPX, OATP-H 5q21.1 2016-10-05 2015-11-18 AY273896 ENSG00000173930 NM_180991 752 Solute carriers CCDS34205 OTTHUMG00000162757 609013 NM_180991 Q6ZQN7 ENSG00000173930 uc003knm.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 353189 false 1592ATG12 9140 __UNKNOWN__ hg19 5 115167503 115167503 + Nonstop_Mutation SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:115167503A>T ENST00000509910.1 - 4 727 c.421T>A c.(421-423)Tga>Aga p.*141R ATG12_ENST00000500945.2_3'UTR|ATG12_ENST00000274459.4_Nonstop_Mutation_p.*188R|ATG12_ENST00000509598.1_Intron O94817 ATG12_HUMAN autophagy related 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ autophagic vacuole assembly (GO:0000045)|C-terminal protein lipidation (GO:0006501)|cellular response to nitrogen starvation (GO:0006995)|innate immune response (GO:0045087)|mitochondrion degradation (GO:0000422)|negative regulation of type I interferon production (GO:0032480)|nucleophagy (GO:0044804) Atg12-Atg5-Atg16 complex (GO:0034274)|pre-autophagosomal structure membrane (GO:0034045) Atg8 ligase activity (GO:0019776) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTGTGGTTCATCCCCACGCC 0.34413965087281795 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC012266 HGNC:588 Approved gene with protein product protein-coding gene APG12L "Apg12 (autophagy 12, S. cerevisiae)-like", "APG12 autophagy 12-like (S. cerevisiae)", "ATG12 autophagy related 12 homolog (S. cerevisiae)" APG12 "APG12 autophagy 12-like" 5q22.3 2016-10-05 2005-09-11 2012-06-06 AB017507 ENSG00000145782 9852036 NM_004707 1022 Autophagy related CCDS4122, CCDS64222 OTTHUMG00000128889 609608 NM_001277783 O94817 ENSG00000145782 uc003krh.4 Q6PJV2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9140 false 1593HSD17B4 3295 __UNKNOWN__ hg19 5 118860923 118860924 + Frame_Shift_Ins INS - - AA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:118860923_118860924insAA ENST00000515320.1 + 17 1541 c.1462_1463insAA c.(1462-1464)cgcfs p.R488fs HSD17B4_ENST00000509514.1_Frame_Shift_Ins_p.R244fs|HSD17B4_ENST00000256216.6_Frame_Shift_Ins_p.R506fs|HSD17B4_ENST00000504811.1_Frame_Shift_Ins_p.R531fs|HSD17B4_ENST00000510025.1_Frame_Shift_Ins_p.R482fs|HSD17B4_ENST00000414835.2_Frame_Shift_Ins_p.R366fs|HSD17B4_ENST00000513628.1_Frame_Shift_Ins_p.R369fs|HSD17B4_ENST00000522415.1_Intron NM_001199292.1 NP_001186221.1 P51659 DHB4_HUMAN hydroxysteroid 17-beta dehydrogenase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111) intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777) 17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTTTGTACCGCCTCAGTGG 0.2975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Colon(35;490 801 34689 41394 43344) Y11393 HGNC:5213 Approved gene with protein product protein-coding gene "hydroxysteroid (17-beta) dehydrogenase 4" MFE-2, DBP, SDR8C1 "17beta-estradiol dehydrogenase type IV", "peroxisomal multifunctional protein 2", "17-beta-HSD IV", "17-beta-hydroxysteroid dehydrogenase 4", "D-bifunctional protein, peroxisomal", "D-3-hydroxyacyl-CoA dehydratase", "3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase", "beta-keto-reductase", "beta-hydroxyacyl dehydrogenase", "short chain dehydrogenase/reductase family 8C, member 1" 5q23.1 2016-10-05 2016-06-03 4.2.1.107, 1.1.1.35 ENSG00000133835 8938456, 19027726 NM_000414 743 Short chain dehydrogenase/reductase superfamily CCDS4126, CCDS56378, CCDS56379, CCDS78051, CCDS78052 OTTHUMG00000128899 601860 NM_000414 P51659 ENSG00000133835 uc003ksj.4 B4DNV1|B4DVS5|E9PB82|F5HE57 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3295 false 1594SRFBP1 153443 __UNKNOWN__ hg19 5 121297728 121297728 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:121297728A>G ENST00000339397.4 + 1 73 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_152546.2 NP_689759.2 serum response factor binding protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCATCTACCATGGCTCAGCC 0.57356608478803 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471086 HGNC:26333 Approved gene with protein product protein-coding gene FLJ25286, p49, STRAP, BUD22, Rlb1 "BUD22 homolog (S. cerevisiae)" 5q23.1 2016-10-25 AK058015 ENSG00000151304 15492011 NM_152546 CCDS43354 OTTHUMG00000162970 610479 NM_152546 Q8NEF9 ENSG00000151304 uc003kst.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 153443 false 1595LEAP2 116842 __UNKNOWN__ hg19 5 132208861 132208861 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:132208861C>T ENST00000296877.2 + 1 LEAP2_ENST00000485457.1_5'Flank NM_052971.2 NP_443203.1 Q969E1 LEAP2_HUMAN liver enriched antimicrobial peptide 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ defense response to bacterium (GO:0042742) extracellular region (GO:0005576) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCAAGTGGACGATCTGGGGA 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471062 HGNC:29571 Approved gene with protein product protein-coding gene "liver expressed antimicrobial peptide 2" LEAP-2 5q31.1 2016-07-11 2016-07-11 AJ409065, BX443829 ENSG00000164406 12493837 NM_052971 CCDS4163 OTTHUMG00000059837 611373 NM_052971 Q969E1 ENSG00000164406 uc003kyc.4 D3DQ91 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 116842 false 1596SMAD5 4090 __UNKNOWN__ hg19 5 135513085 135513086 + Splice_Site INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:135513085_135513086insC ENST00000545279.1 + 8 1674 c.1314_1315insC c.(1315-1317)cttfs p.L439fs SMAD5_ENST00000545620.1_Splice_Site_p.L439fs|SMAD5_ENST00000514641.2_Intron NM_005903.5 NP_005894.3 Q99717 SMAD5_HUMAN SMAD family member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cardiac muscle contraction (GO:0060048)|cartilage development (GO:0051216)|cellular response to BMP stimulus (GO:0071773)|cellular response to organic cyclic compound (GO:0071407)|embryonic pattern specification (GO:0009880)|erythrocyte differentiation (GO:0030218)|germ cell development (GO:0007281)|intracellular signal transduction (GO:0035556)|Mullerian duct regression (GO:0001880)|osteoblast fate commitment (GO:0002051)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657) cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667) metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)|ubiquitin protein ligase binding (GO:0031625) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(188)|pancreas(22) 278 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATTGAGATTATCTTCATGG 0.36 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_INS U73825 HGNC:6771 Approved gene with protein product protein-coding gene MADH5 "MAD, mothers against decapentaplegic homolog 5 (Drosophila)", "SMAD, mothers against DPP homolog 5 (Drosophila)" Dwfc, JV5-1 5q31.1 2016-10-25 2004-05-26 2006-11-06 U59913 ENSG00000113658 8673135 NM_005903 750 SMAD family CCDS75308 OTTHUMG00000163212 603110 NM_001001419 Q99717 ENSG00000113658 uc032vlx.1 O14688|Q15798|Q9UQA1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4090 false 1597NME5 8382 __UNKNOWN__ hg19 5 137451371 137451371 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:137451371T>A ENST00000265191.2 - 6 688 c.638A>T c.(637-639)tAa>tTa p.*213L RNU6-460P_ENST00000391158.1_5'Flank|snoU13_ENST00000459094.1_5'Flank NM_003551.2 NP_003542.1 P56597 NDK5_HUMAN NME/NM23 family member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591) sperm flagellum (GO:0036126) ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|salivary_gland(24)|upper_aerodigestive_tract(1) 115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTTTTTTTTTAATAAGGTTC 0.26433915211970077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y14992 HGNC:7853 Approved gene with protein product protein-coding gene "non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)" nm23-H5, RSPH23 "radial spoke 23 homolog (Chlamydomonas)" 5q31.2 2014-11-19 2012-05-18 Y14992 ENSG00000112981 9742940, 19852809 NM_003551 961 NME/NM23 family CCDS4197 OTTHUMG00000129207 603575 NM_003551 P56597 ENSG00000112981 uc003lce.4 B2R5G7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8382 false 1598LRRTM2 26045 __UNKNOWN__ hg19 5 138210895 138210895 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:138210895C>A ENST00000518785.1 - 1 LRRTM2_ENST00000521094.2_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000518825.1_Intron|LRRTM2_ENST00000274711.6_DE_NOVO_START_OUT_FRAME|CTNNA1_ENST00000302763.7_Intron|CTNNA1_ENST00000355078.5_Intron|CTNNA1_ENST00000540387.1_5'Flank|CTNNA1_ENST00000520400.1_Intron|LRRTM2_ENST00000523537.1_Intron O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ long-term synaptic potentiation (GO:0060291)|negative regulation of receptor internalization (GO:0002091)|synapse organization (GO:0050808) cell junction (GO:0030054)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCAGTCTCCTTTCCGCAGC 0.4314214463840399 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC011405 HGNC:19409 Approved gene with protein product protein-coding gene KIAA0416 5q31.2 2016-10-25 AB007876 ENSG00000146006 12676565 CCDS47272 OTTHUMG00000163535 610868 NM_015564 O43300 ENSG00000146006 uc011cyz.2 A0AVL3|A8K4U9|B7ZLN8|Q7L770 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26045 false 1599IGIP 492311 __UNKNOWN__ hg19 5 139508064 139508064 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:139508064G>A ENST00000333305.3 + 1 2544 c.3G>A c.(1-3)atG>atA p.M1I NM_001007189.1 NP_001007190.1 A6NJ69 IGIP_HUMAN IgA inducing protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTAAATATGTGCAGTTATT 0.35910224438902744 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC011379 HGNC:33847 Approved gene with protein product protein-coding gene C5orf53 "chromosome 5 open reading frame 53", "IgA-inducing protein homolog (Bos taurus)" LOC492311 5q31.3 2016-10-05 2011-09-22 2016-06-13 AB073888, BC017422, BC041380 ENSG00000182700 19201837, 12874223, 21074276 NM_001007189 CCDS34244 OTTHUMG00000163359 NM_001007189 A6NJ69 ENSG00000182700 uc003lfb.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 492311 false 1600PCDHA7 56141 __UNKNOWN__ hg19 5 140213970 140213970 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140213970T>G ENST00000525929.1 + 1 2 c.2T>G c.(1-3)aTg>aGg p.M1R PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Splice_Site_p.M1R NM_018910.2 NP_061733.1 Q9UN72 PCDA7_HUMAN protocadherin alpha 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399) integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(173)|lung(101)|pancreas(22) 353 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATTTGAAATGGTGTGCCCG 0.5087281795511222 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(160;258 2013 5070 22440 28951) AF152485 HGNC:8673 Approved complex locus constituent other CNRS4 CNR4, CRNR4 "KIAA0345-like 7", "ortholog to mouse CNR4" 5q31.3 2016-10-24 AF152485 ENSG00000204963 10380929, 10662547 NM_018910 20 Clustered protocadherins CCDS54918 OTTHUMG00000163371 606313 NM_018910 Q9UN72 ENSG00000204963 uc003lhq.2 O75282 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56141 false 1601PCDHA12 56137 __UNKNOWN__ hg19 5 140255770 140255771 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140255770_140255771insC ENST00000398631.2 + 1 713 c.713_714insC c.(712-714)aatfs p.G239fs PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron NM_031864.2 NP_114070.1 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ homophilic cell adhesion (GO:0007156) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) large_intestine(160)|lung(98)|oesophagus(1)|upper_aerodigestive_tract(2) 261 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAATGACAATGGTCCGGCG 0.3675 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(113;759 1672 13322 24104 50104) BC113372 HGNC:8666 Approved complex locus constituent other PCDH-ALPHA12 "KIAA0345-like 2" 5q31.3 2016-10-05 AF152477 ENSG00000251664 10380929 NM_018903 20 Clustered protocadherins CCDS47285, CCDS75327 OTTHUMG00000163366 606318 NM_018903 Q9UN75 ENSG00000251664 uc003lic.4 O75278|Q2M1N8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56137 false 1602PCDHB4 56131 __UNKNOWN__ hg19 5 140503900 140503901 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140503900_140503901insG ENST00000194152.1 + 1 2320 c.2320_2321insG c.(2320-2322)ttgfs p.L774fs NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(173)|lung(98)|pancreas(22)|upper_aerodigestive_tract(120) 470 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCTAATCTCTTGGTTCAGGA 0.4975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC098346 HGNC:8689 Approved protocadherin other PCDH-BETA4 5q31.3 2016-10-05 AF152497 ENSG00000081818 10380929 NM_018938 20 Clustered protocadherins CCDS4246 OTTHUMG00000129617 606330 NM_018938 Q9Y5E5 ENSG00000081818 uc003lip.3 Q4V761 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56131 false 1603PCDHB6 56130 __UNKNOWN__ hg19 5 140529841 140529841 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140529841G>A ENST00000231136.1 + 1 3 c.3G>A c.(1-3)atG>atA p.M1I PCDHB6_ENST00000543635.1_5'UTR NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(171)|lung(101)|pancreas(22) 351 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAATAGACATGATGCAAACTA 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AF217752 HGNC:8691 Approved protocadherin other PCDH-BETA6 5q31.3 2016-10-05 AF152499 ENSG00000113211 10380929 NM_018939 20 Clustered protocadherins CCDS4248, CCDS78067 OTTHUMG00000129623 606332 NM_001303145 Q9Y5E3 ENSG00000113211 uc003lir.4 B2R8R9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56130 false 1604PCDHB13 56123 __UNKNOWN__ hg19 5 140596092 140596092 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:140596092A>G ENST00000341948.4 + 1 2584 c.2397A>G c.(2395-2397)tgA>tgG p.*799W NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) calcium ion binding (GO:0005509) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|large_intestine(172)|lung(99)|pancreas(22) 418 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATATTCAGTGACCATAGTTGA 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC071934 HGNC:8684 Approved protocadherin other PCDH-BETA13 5q31.3 2016-10-05 AF152492 ENSG00000187372 10380929 NM_018933 20 Clustered protocadherins CCDS4255 OTTHUMG00000129615 606339 NM_018933 Q9Y5F0 ENSG00000187372 uc003lja.3 A8K9V6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56123 false 1605NR3C1 2908 __UNKNOWN__ hg19 5 142814699 142814699 + DE_NOVO_START_IN_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:142814699A>C ENST00000343796.2 - 1 NR3C1_ENST00000504572.1_5'Flank NM_001018077.1 NP_001191194.1 P04150 GCR_HUMAN nuclear receptor subfamily 3 group C member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(452)|kidney(108)|large_intestine(11)|pancreas(22) 650 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620) AAACTAAATGAATGCGTGCAT 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X03348 HGNC:7978 Approved gene with protein product protein-coding gene GRL "nuclear receptor subfamily 3, group C, member 1", "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" GR "glucocorticoid receptor" 5q31.3 2016-10-05 2015-11-18 X03225 ENSG00000113580 2867473 71 Nuclear hormone receptors CCDS4278, CCDS34258, CCDS47298 OTTHUMG00000129677 138040 NM_000176 P04150 ENSG00000113580 uc003lnd.3 A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2908 false 1606NR3C1 2908 __UNKNOWN__ hg19 5 142815041 142815041 + DE_NOVO_START_OUT_FRAME SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:142815041C>A ENST00000343796.2 - 1 NR3C1_ENST00000504572.1_5'Flank NM_001018077.1 NP_001191194.1 P04150 GCR_HUMAN nuclear receptor subfamily 3 group C member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634) glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(452)|kidney(108)|large_intestine(11)|pancreas(22) 650 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620) GAAGAGGTACCTTTTGAATGG 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X03348 HGNC:7978 Approved gene with protein product protein-coding gene GRL "nuclear receptor subfamily 3, group C, member 1", "nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)" GR "glucocorticoid receptor" 5q31.3 2016-10-05 2015-11-18 X03225 ENSG00000113580 2867473 71 Nuclear hormone receptors CCDS4278, CCDS34258, CCDS47298 OTTHUMG00000129677 138040 NM_000176 P04150 ENSG00000113580 uc003lnd.3 A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2908 false 1607SPINK13 153218 __UNKNOWN__ hg19 5 147665609 147665609 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:147665609T>C ENST00000512953.1 + 6 814 c.283T>C c.(283-285)Taa>Caa p.*95Q SPINK13_ENST00000511106.1_Nonstop_Mutation_p.*55Q|SPINK13_ENST00000398450.4_Nonstop_Mutation_p.*95Q|RP11-373N22.3_ENST00000501695.3_RNA Q1W4C9 ISK13_HUMAN serine peptidase inhibitor, Kazal type 13 (putative) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of acrosome reaction (GO:1902225) extracellular region (GO:0005576) serine-type endopeptidase inhibitor activity (GO:0004867) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAATGTGATTAATGGGTACC 0.2892768079800499 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ438947 HGNC:27200 Approved gene with protein product protein-coding gene SPINK5L3, LiESP6, HESPINTOR, MGC149260 5q32 2016-10-31 ENSG00000214510 23430248 NM_001040129.2 740 Serine peptidase inhibitors, Kazal type CCDS43383 OTTHUMG00000163426 615205 NM_001040129 Q1W4C9 ENSG00000214510 uc003lpc.4 A1A4Y2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 153218 false 1608FAM114A2 10827 __UNKNOWN__ hg19 5 153409127 153409128 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:153409127_153409128insA ENST00000351797.4 - 5 494 c.416_417insT c.(415-417)gccfs p.K140fs FAM114A2_ENST00000522858.1_Frame_Shift_Ins_p.K140fs|FAM114A2_ENST00000520667.1_Frame_Shift_Ins_p.K140fs|FAM114A2_ENST00000520313.1_Frame_Shift_Ins_p.K70fs NM_018691.2 NP_061161.2 Q9NRY5 F1142_HUMAN family with sequence similarity 114 member A2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ purine nucleotide binding (GO:0017076) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATTCTCTTTGGCATTTGTCT 0.3875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471062 HGNC:1333 Approved gene with protein product protein-coding gene C5orf3 "chromosome 5 open reading frame 3", "family with sequence similarity 114, member A2" 133K02 5q33.2 2017-07-12 2008-06-13 2015-11-18 AF159700 ENSG00000055147 10843801 NM_018691 CCDS4323, CCDS83036 OTTHUMG00000130147 NM_001317993 Q9NRY5 ENSG00000055147 uc003lvc.5 B2R8D8|Q9H7E0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10827 false 1609LCP2 3937 __UNKNOWN__ hg19 5 169675703 169675703 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:169675703A>G ENST00000046794.5 - 21 2216 c.1600T>C c.(1600-1602)Tag>Cag p.*534Q LCP2_ENST00000521416.1_Nonstop_Mutation_p.*329Q|C5orf58_ENST00000517575.1_Intron NM_005565.3 NP_005556.1 Q13094 LCP2_HUMAN lymphocyte cytosolic protein 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169) cell-cell junction (GO:0005911)|cytosol (GO:0005829) breast(1)|central_nervous_system(22) 23 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATAACTTGCTATGGGTACCCT 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U20158 HGNC:6529 Approved gene with protein product protein-coding gene SLP76 "lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)", "lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)" SLP-76 "76 kDa tyrosine phosphoprotein", "SH2 domain-containing leukocyte protein of 76kD" 5q35.1 2015-11-10 2015-11-10 ENSG00000043462 7706237 NM_005565 741 SH2 domain containing CCDS47339 OTTHUMG00000163121 601603 NM_005565 Q13094 ENSG00000043462 uc003man.2 A8KA25|Q53XV4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3937 false 1610DDX41 51428 __UNKNOWN__ hg19 5 176943944 176943944 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:176943944C>T ENST00000507955.1 - 1 527 c.3G>A c.(1-3)atG>atA p.M1I DDX41_ENST00000506965.1_Intron NM_016222.2 NP_057306.2 Q9UJV9 DDX41_HUMAN DEAD-box helicase 41 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396) catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(198)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 381 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGACTCCTCCATTCTTTGCT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471195 HGNC:18674 Approved gene with protein product protein-coding gene "DEAD (Asp-Glu-Ala-Asp) box polypeptide 41" ABS, MGC8828 5q35.3 2016-01-07 2016-01-07 AF195417 ENSG00000183258 10607561 NM_016222 1516|499|1510 Spliceosomal P complex|DEAD-box helicases|Spliceosomal C complex CCDS4427 OTTHUMG00000130858 608170 NM_001321732 Q9UJV9 ENSG00000183258 uc003mho.4 B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 51428 false 1611OR2Y1 134083 __UNKNOWN__ hg19 5 180167058 180167058 + START_CODON_SNP SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:180167058T>A ENST00000307832.2 - 1 42 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001001657.1 NP_001001657.1 Q8NGV0 OR2Y1_HUMAN olfactory receptor family 2 subfamily Y member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAACTTCCCATGGCCTTTTGC 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471165 HGNC:14837 Approved gene with protein product protein-coding gene "olfactory receptor, family 2, subfamily Y, member 1" 5q35.3 2016-10-05 2015-12-09 AB065676 ENSG00000174339 XM_068682 149 Olfactory receptors, family 2 CCDS34323 OTTHUMG00000162237 NM_001001657 Q8NGV0 ENSG00000174339 uc003mmf.2 B9EIP1|Q6IFB1|Q96R16 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 134083 false 1612TRIM7 81786 __UNKNOWN__ hg19 5 180622167 180622167 + Nonstop_Mutation SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr5:180622167C>G ENST00000274773.7 - 7 1597 c.1535G>C c.(1534-1536)tGa>tCa p.*512S TRIM7_ENST00000393315.1_Nonstop_Mutation_p.*304S|TRIM7_ENST00000361809.3_Nonstop_Mutation_p.*304S|TRIM7_ENST00000393319.3_Nonstop_Mutation_p.*330S|TRIM7_ENST00000422067.2_Nonstop_Mutation_p.*304S|TRIM7_ENST00000504241.1_Intron|CTC-338M12.6_ENST00000419707.2_5'Flank|CTC-338M12.6_ENST00000502812.2_5'Flank|CTC-338M12.6_ENST00000509080.1_5'Flank|CTC-338M12.6_ENST00000511517.1_5'Flank|CTC-338M12.6_ENST00000512508.1_5'Flank|CTC-338M12.2_ENST00000513771.1_5'Flank NM_203293.2 NP_976038.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cytoplasm (GO:0005737)|nucleus (GO:0005634) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CAGTGCCCCTCAAGGCCAGAT 0.6583541147132169 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Esophageal Squamous(128;2258 2308 35507 48647) CH471165 HGNC:16278 Approved gene with protein product protein-coding gene "tripartite motif-containing 7" RNF90, GNIP "glycogenin-interacting protein", "tripartite motif protein TRIM7" 5q35.3 2014-11-19 2011-01-25 AF220032 ENSG00000146054 11331580 NM_203296 58|59 Ring finger proteins|Tripartite motif containing CCDS4462, CCDS4463, CCDS4464, CCDS43414 OTTHUMG00000130963 609315 NM_033342 Q9C029 ENSG00000146054 uc003mmz.3 A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 81786 false 1613FAM217A 222826 __UNKNOWN__ hg19 6 4068932 4068932 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:4068932A>G ENST00000274673.3 - 7 1929 c.1525T>C c.(1525-1527)Taa>Caa p.*509Q FAM217A_ENST00000380188.2_Intron NM_173563.2 NP_775834.2 Q8IXS0 F217A_HUMAN family with sequence similarity 217 member A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAAAGAGTTATTTTTGTTCA 0.3790523690773067 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC039349 HGNC:21362 Approved gene with protein product protein-coding gene C6orf146 "chromosome 6 open reading frame 146", "family with sequence similarity 217, member A" MGC43581 6p25.2 2016-10-05 2012-02-07 2015-11-18 BC039349 ENSG00000145975 NM_173563 CCDS4489 OTTHUMG00000014159 NM_173563 Q8IXS0 ENSG00000145975 uc003mvx.4 Q5JYK1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 222826 false 1614F13A1 2162 __UNKNOWN__ hg19 6 6251131 6251132 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:6251131_6251132insC ENST00000264870.3 - 5 869 c.602_603insG c.(601-603)gaafs p.R202fs NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII A chain __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576) blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093) metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(3)|pancreas(22) 93 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Glutamine(DB00130) CTCTTCTCTTTCTTTCTCAT 0.355 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M22001 HGNC:3531 Approved gene with protein product protein-coding gene F13A "coagulation factor XIII, A1 polypeptide" 6p25.1 2017-03-24 2016-01-15 M14539 ENSG00000124491 NM_000129 773 Transglutaminases CCDS4496 OTTHUMG00000014186 134570 NM_000129 P00488 ENSG00000124491 uc003mwv.4 Q59HA7|Q8N6X2|Q96P24|Q9BX29 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2162 false 1615TPMT 7172 __UNKNOWN__ hg19 6 18149358 18149358 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:18149358T>C ENST00000309983.4 - 2 87 c.1A>G c.(1-3)Atg>Gtg p.M1V NM_000367.2 NP_000358.1 P51580 TPMT_HUMAN thiopurine S-methyltransferase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062) thiopurine S-methyltransferase activity (GO:0008119) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(21)|pancreas(22)|skin(73)|soft_tissue(24) 214 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021) GTACCATCCATAGTTTCAGAG 0.34663341645885287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Colon(190;1381 2791 16728 32493) U81573 HGNC:12014 Approved gene with protein product protein-coding gene 6p22.3 2017-03-24 2.1.1.67 ENSG00000137364 8316220 1400 Seven-beta-strand methyltransferase motif containing CCDS4543 OTTHUMG00000014317 187680 NM_000367 P51580 ENSG00000137364 uc003ncm.4 O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7172 false 1616MRS2 57380 __UNKNOWN__ hg19 6 24403275 24403275 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:24403275A>G ENST00000378386.3 + 1 94 c.1A>G c.(1-3)Atg>Gtg p.M1V MRS2_ENST00000378353.1_START_CODON_SNP_p.M1V|MRS2_ENST00000274747.7_START_CODON_SNP_p.M1V|MRS2_ENST00000535061.1_START_CODON_SNP_p.M1V|MRS2_ENST00000443868.2_START_CODON_SNP_p.M1V|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000483634.1_Intron NM_020662.2 NP_065713.1 Q9HD23 MRS2_HUMAN MRS2, magnesium transporter __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743) magnesium ion transmembrane transporter activity (GO:0015095) biliary_tract(2)|central_nervous_system(44)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCCAGCACCATGGAATGCCT 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471087 HGNC:13785 Approved gene with protein product protein-coding gene MRS2L "MRS2-like, magnesium homeostasis factor (S. cerevisiae)", "MRS2 magnesium homeostasis factor homolog (S. cerevisiae)" 6p22.3 2016-10-05 2008-01-18 2015-11-27 AF288288 ENSG00000124532 CCDS4552, CCDS69055, CCDS69056, CCDS75408 OTTHUMG00000014355 NM_001286264 Q9HD23 ENSG00000124532 uc003neb.5 A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 57380 false 1617ALDH5A1 7915 __UNKNOWN__ hg19 6 24533938 24533938 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:24533938T>C ENST00000491546.1 + 9 1652 c.1522T>C c.(1522-1524)Tag>Cag p.*508Q ALDH5A1_ENST00000357578.3_Nonstop_Mutation_p.*536Q|ALDH5A1_ENST00000348925.2_Nonstop_Mutation_p.*549Q|ALDH5A1_ENST00000546278.1_Nonstop_Mutation_p.*448Q P51649 SSDH_HUMAN aldehyde dehydrogenase 5 family member A1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268) mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739) protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313) CGGGGGCTTGTAGGATTCTTT 0.428927680798005 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL031230 HGNC:408 Approved gene with protein product protein-coding gene "aldehyde dehydrogenase 5 family, member A1" SSADH, SSDH "succinate-semialdehyde dehydrogenase" 6p22.3 2016-10-05 2015-11-18 L34820 1.2.1.24 ENSG00000112294 7814412, 9059628 398 Aldehyde dehydrogenases CCDS4555, CCDS4556 OTTHUMG00000014356 610045 NM_001080 P51649 ENSG00000112294 uc003neg.4 B2RD26|G5E949|Q546H9|Q8N3W6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7915 false 1618ACOT13 55856 __UNKNOWN__ hg19 6 24701770 24701771 + Frame_Shift_Ins INS - - G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:24701770_24701771insG ENST00000230048.4 + 3 543 c.350_351insG c.(349-351)tctfs p.V118fs ACOT13_ENST00000537591.1_Frame_Shift_Ins_p.V95fs|RP1-30M3.5_ENST00000607014.1_RNA|ACOT13_ENST00000476436.1_Intron NM_018473.3 NP_060943.1 Q9NPJ3 ACO13_HUMAN acyl-CoA thioesterase 13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ metabolic process (GO:0008152)|protein homotetramerization (GO:0051289) cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634) acyl-CoA hydrolase activity (GO:0047617) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATTTACCTCTGTGGATCTG 0.35 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC000894 HGNC:20999 Approved gene with protein product protein-coding gene THEM2 "thioesterase superfamily member 2" HT012 6p22.3 2016-10-05 2009-05-05 2009-05-05 AF220186 ENSG00000112304 16934754, 19405909 NM_018473 41 Acyl-CoA thioesterases CCDS4558, CCDS54972 OTTHUMG00000014359 615652 NM_001160094 Q9NPJ3 ENSG00000112304 uc003nek.4 F5H2L4|O95549 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55856 false 1619HIST1H4B 8366 __UNKNOWN__ hg19 6 26027478 26027478 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:26027478C>T ENST00000377364.3 - 1 3 c.3G>A c.(1-3)atG>atA p.M1I NM_003544.2 NP_003535.1 P62805 H4_HUMAN histone cluster 1 H4 family member b __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723) extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234) DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22)|upper_aerodigestive_tract(120) 189 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCGACCAGACATGTCTAACC 0.5211970074812967 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z98744 HGNC:4789 Approved gene with protein product protein-coding gene H4FI "H4 histone family, member I", "histone 1, H4b", "histone cluster 1, H4b" H4/I 6p22.2 2016-08-15 2003-02-14 2016-08-15 X67081 ENSG00000278705 9119399, 12408966 NM_003544 864 Histones CCDS4572 OTTHUMG00000014417 602829 NM_003544 P62805 ENSG00000278705 uc003nfr.4 A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8366 false 1620HIST1H2BG 8339 __UNKNOWN__ hg19 6 26216869 26216869 + START_CODON_SNP SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:26216869C>A ENST00000244601.3 - 1 4 c.3G>T c.(1-3)atG>atT p.M1I HIST1H2AE_ENST00000303910.2_5'Flank NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1 H2B family member g __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334) extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|oesophagus(1)|pancreas(22)|salivary_gland(1) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGGTTCAGGCATGCTGTCAG 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z80783 HGNC:4746 Approved gene with protein product protein-coding gene H2BFA "H2B histone family, member A", "histone 1, H2bg", "histone cluster 1, H2bg" H2B/a, H2B.1A 6p22.2 2016-08-15 2003-02-14 2016-08-15 M60750 ENSG00000273802 1916825, 12408966 NM_003518 864 Histones CCDS4594 OTTHUMG00000014446 602798 NM_003518 P62807 ENSG00000273802 uc003ngz.5 P02278|Q3B872|Q4VB69|Q93078|Q93080 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8339 false 1621HIST1H2AH 85235 __UNKNOWN__ hg19 6 27114910 27114910 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:27114910G>A ENST00000377459.1 + 1 50 c.3G>A c.(1-3)atG>atA p.M1I HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_5'Flank NM_080596.2 NP_542163.1 Q96KK5 H2A1H_HUMAN histone cluster 1 H2A family member h __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634) DNA binding (GO:0003677) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACCAGTATGTCTGGACGTG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471081 HGNC:13671 Approved gene with protein product protein-coding gene "histone 1, H2ah", "histone cluster 1, H2ah" H2AFALii, dJ86C11.1, H2A/S 6p22.1 2016-08-15 2016-08-15 AY131988 ENSG00000274997 12408966 NM_080596 864 Histones CCDS4622 OTTHUMG00000014468 615013 NM_080596 Q96KK5 ENSG00000274997 uc003niz.5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 85235 false 1622ZNF165 7718 __UNKNOWN__ hg19 6 28056967 28056968 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:28056967_28056968insC ENST00000377325.1 + 4 1733 c.1177_1178insC c.(1177-1179)attfs p.I393fs ZSCAN12P1_ENST00000529104.1_5'Flank NM_003447.3 NP_003438.1 P49910 ZN165_HUMAN zinc finger protein 165 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(2)|breast(13)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCGGCGAATTCACACTGG 0.435 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X84801 HGNC:12953 Approved gene with protein product protein-coding gene ZSCAN7, CT53 "cancer/testis antigen 53" 6p22.1 2016-10-05 U78722 ENSG00000197279 7490084 NM_003447 42|28 SCAN domain containing|Zinc fingers C2H2-type CCDS4643 OTTHUMG00000014505 600834 NM_003447 P49910 ENSG00000197279 uc021yro.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7718 false 1623HLA-G 3135 __UNKNOWN__ hg19 6 29795623 29795623 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:29795623T>C ENST00000360323.6 + 1 26 c.2T>C c.(1-3)aTg>aCg p.M1T HLA-G_ENST00000376828.2_Missense_Mutation_p.M6T|HLA-G_ENST00000376818.3_START_CODON_SNP_p.M1T|HLA-G_ENST00000376815.3_START_CODON_SNP_p.M1T|HLA-G_ENST00000428701.1_START_CODON_SNP_p.M1T P17693 HLAG_HUMAN major histocompatibility complex, class I, G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337) early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886) peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|skin(32)|upper_aerodigestive_tract(8) 130 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGCCAAGGATGGTGGTCATG 0.6758104738154613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X60983 HGNC:4964 Approved gene with protein product protein-coding gene "HLA-G histocompatibility antigen, class I, G" "b2 microglobulin" 6p22.1 2017-07-07 2007-12-12 ENSG00000204632 NM_002127 591|588 C1-set domain containing|Histocompatibility complex CCDS4668 OTTHUMG00000031157 142871 NM_002127 P17693 ENSG00000204632 uc003nnw.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3135 false 1624TRIM31 11074 __UNKNOWN__ hg19 6 30080582 30080582 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:30080582T>C ENST00000376734.3 - 2 127 c.1A>G c.(1-3)Atg>Gtg p.M1V TRIM31_ENST00000540829.1_START_CODON_SNP_p.M1V|TRIM31-AS1_ENST00000440874.1_RNA|TRIM31_ENST00000485864.1_5'Flank NM_007028.3 NP_008959.3 Q9BZY9 TRI31_HUMAN tripartite motif containing 31 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186) mitochondrion (GO:0005739) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58)|salivary_gland(1) 616 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCACTGGCCATGACAGAACAA 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Y07828 HGNC:16289 Approved gene with protein product protein-coding gene "tripartite motif-containing 31" RNF, HCGI, C6orf13, HCG1 6p22.1 2016-10-05 2011-01-25 AF230386 ENSG00000204616 11331580 59|58 Tripartite motif containing|Ring finger proteins CCDS34374 OTTHUMG00000031064 609316 NM_007028 Q9BZY9 ENSG00000204616 uc011ihp.3 A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 11074 false 1625NEU1 4758 __UNKNOWN__ hg19 6 31828246 31828247 + Frame_Shift_Ins INS - - CT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:31828246_31828247insCT ENST00000375631.4 - 4 898 c.767_768insAG c.(766-768)cagfs p.E257fs NM_000434.3 NP_000425.1 Q99519 NEUR1_HUMAN neuraminidase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665) cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886) exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(68)|large_intestine(11)|lung(1)|pancreas(22) 159 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Oseltamivir(DB00198) ATCATTTTCCTGCTTGGGCT 0.5925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X78687 HGNC:7758 Approved gene with protein product protein-coding gene NEU "sialidase 1 (lysosomal sialidase)", "neuraminidase 1 (lysosomal sialidase)" 6p21.33 2016-10-05 2016-07-01 AF040958 3.2.1.18 ENSG00000204386 9054950 CCDS4723 OTTHUMG00000031284 608272 NM_000434 Q99519 ENSG00000204386 uc011ise.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4758 false 1626HLA-DQB2 3120 __UNKNOWN__ hg19 6 32731258 32731258 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:32731258G>A ENST00000437316.2 - 1 HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME|HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME P05538 DQB2_HUMAN major histocompatibility complex, class II, DQ beta 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCAAGACGTAAGTGAGAC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL672104 HGNC:4945 Approved gene with protein product protein-coding gene HLA-DXB 6p21.32 2016-10-05 M83890 ENSG00000232629 2564844 591|588 C1-set domain containing|Histocompatibility complex CCDS56419, CCDS78128 OTTHUMG00000031125 615161 NM_001198858 P05538 ENSG00000232629 uc063zhn.1 A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3120 false 1627HLA-DQB2 3120 __UNKNOWN__ hg19 6 32731258 32731258 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:32731258G>A ENST00000437316.2 - 1 HLA-DQB2_ENST00000435145.2_DE_NOVO_START_IN_FRAME|HLA-DQB2_ENST00000411527.1_DE_NOVO_START_IN_FRAME P05538 DQB2_HUMAN major histocompatibility complex, class II, DQ beta 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852) clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658) MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTTCCAAGACGTAAGTGAGAC 0.5236907730673317 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL672104 HGNC:4945 Approved gene with protein product protein-coding gene HLA-DXB 6p21.32 2016-10-05 M83890 ENSG00000232629 2564844 591|588 C1-set domain containing|Histocompatibility complex CCDS56419, CCDS78128 OTTHUMG00000031125 615161 NM_001198858 P05538 ENSG00000232629 uc063zhn.1 A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3120 false 1628HSD17B8 7923 __UNKNOWN__ hg19 6 33172446 33172446 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:33172446A>G ENST00000374662.3 + 1 28 c.1A>G c.(1-3)Atg>Gtg p.M1V RING1_ENST00000374656.4_5'Flank|RXRB_ENST00000374680.3_5'Flank|RXRB_ENST00000374685.4_5'Flank|RXRB_ENST00000413614.2_5'Flank|RXRB_ENST00000544186.1_5'Flank|MIR219-1_ENST00000362166.1_5'Flank|HSD17B8_ENST00000469186.1_5'Flank|RING1_ENST00000478431.1_5'Flank NM_014234.4 NP_055049.1 Q92506 DHB8_HUMAN hydroxysteroid 17-beta dehydrogenase 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|fatty acid biosynthetic process (GO:0006633) mitochondrial envelope (GO:0005740)|mitochondrial matrix (GO:0005759)|plasma membrane (GO:0005886) 3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone dehydrogenase (NAD+) activity (GO:0047035) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|lung(1)|pancreas(22) 154 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGCCCGCCATGGCGTCTCA 0.6658354114713217 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ D82061 HGNC:3554 Approved gene with protein product protein-coding gene FABGL "FabG (beta-ketoacyl-[acyl-carrier-protein] reductase, E coli) like (E. coli)", "hydroxysteroid (17-beta) dehydrogenase 8" HKE6, D6S2245E, RING2, KE6, H2-KE6, SDR30C1 "short chain dehydrogenase/reductase family 30C, member 1" 6p21.32 2016-10-05 2002-02-22 2016-06-03 D82061 1.1.1.62 ENSG00000204228 8812499, 19027726 NM_014234 743 Short chain dehydrogenase/reductase superfamily CCDS4769 OTTHUMG00000031117 601417 NM_014234 Q92506 ENSG00000204228 uc011izs.3 A6NLX7|Q5STP7|Q9UIQ1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7923 false 1629KIF6 221458 __UNKNOWN__ hg19 6 39554075 39554076 + Frame_Shift_Ins INS - - GC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:39554075_39554076insGC ENST00000287152.7 - 8 1047 c.951_952insGC c.(952-954)atgfs p.M318fs KIF6_ENST00000373215.3_Frame_Shift_Ins_p.M318fs|KIF6_ENST00000373216.3_Frame_Shift_Ins_p.M318fs|KIF6_ENST00000373213.4_Frame_Shift_Ins_p.M157fs|KIF6_ENST00000538893.1_Frame_Shift_Ins_p.M318fs NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018) cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874) ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777) biliary_tract(2)|breast(48)|central_nervous_system(44)|kidney(92)|large_intestine(37)|lung(1)|pancreas(22) 246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGCAATCATAGTTGTCATG 0.425 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BX649045 HGNC:21202 Approved gene with protein product protein-coding gene C6orf102 "chromosome 6 open reading frame 102" dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418 6p21.2 2014-11-19 AL832634 ENSG00000164627 NM_145027 622 Kinesins CCDS4844, CCDS75449 OTTHUMG00000014648 613919 NM_001289020 Q6ZMV9 ENSG00000164627 uc003oot.3 Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 221458 false 1630TBCC 6903 __UNKNOWN__ hg19 6 42713809 42713809 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:42713809C>T ENST00000372876.1 - 1 26 c.3G>A c.(1-3)atG>atA p.M1I TBCC_ENST00000244625.2_START_CODON_SNP_p.M1I NM_003192.2 NP_003183.1 Q15814 TBCC_HUMAN tubulin folding cofactor C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391) chaperone binding (GO:0051087)|GTPase activity (GO:0003924) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGACGGACTCCATATTGGCTT 0.5960099750623441 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U61234 HGNC:11580 Approved gene with protein product protein-coding gene "tubulin-specific chaperone c" CFC 6p21.1 2015-08-26 2006-11-21 U61234 ENSG00000124659 8706133, 11847227 NM_003192 CCDS4872 OTTHUMG00000014704 602971 NM_003192 Q15814 ENSG00000124659 uc003osl.4 Q53Y43|Q5T787 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6903 false 1631TBCC 6903 __UNKNOWN__ hg19 6 42713810 42713810 + START_CODON_SNP SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:42713810A>C ENST00000372876.1 - 1 25 c.2T>G c.(1-3)aTg>aGg p.M1R TBCC_ENST00000244625.2_START_CODON_SNP_p.M1R NM_003192.2 NP_003183.1 Q15814 TBCC_HUMAN tubulin folding cofactor C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ 'de novo' posttranslational protein folding (GO:0051084)|cell morphogenesis (GO:0000902)|cellular protein metabolic process (GO:0044267)|GTP catabolic process (GO:0006184)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391) chaperone binding (GO:0051087)|GTPase activity (GO:0003924) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GACGGACTCCATATTGGCTTC 0.5935162094763092 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U61234 HGNC:11580 Approved gene with protein product protein-coding gene "tubulin-specific chaperone c" CFC 6p21.1 2015-08-26 2006-11-21 U61234 ENSG00000124659 8706133, 11847227 NM_003192 CCDS4872 OTTHUMG00000014704 602971 NM_003192 Q15814 ENSG00000124659 uc003osl.4 Q53Y43|Q5T787 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6903 false 1632C6orf226 441150 __UNKNOWN__ hg19 6 42858524 42858524 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:42858524C>T ENST00000408925.2 - 1 31 c.3G>A c.(1-3)atG>atA p.M1I NM_001008739.1 NP_001008739.1 Q5I0X4 CF226_HUMAN chromosome 6 open reading frame 226 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGGACGCTCCATGTCGGGTC 0.6533665835411472 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC094854 HGNC:34431 Approved gene with protein product protein-coding gene LOC441150 6p21.1 2016-09-30 BC051007, BC060325 ENSG00000221821 NM_001008739 CCDS43463 OTTHUMG00000156926 NM_001008739 Q5I0X4 ENSG00000221821 uc003osw.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 441150 false 1633RHAG 6005 __UNKNOWN__ hg19 6 49604523 49604523 + START_CODON_SNP SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:49604523C>A ENST00000371175.4 - 1 30 c.3G>T c.(1-3)atG>atT p.M1I RHAG_ENST00000229810.7_START_CODON_SNP_p.M1I NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh associated glycoprotein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|lung(1)|oesophagus(1)|pancreas(22) 155 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATGTGAACCTCATGTTTGTGG 0.41895261845386533 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(176;476 2003 7720 43408 44749) X64594 HGNC:10006 Approved gene with protein product protein-coding gene "Rhesus blood group-associated glycoprotein" RH50A, CD241, SLC42A1 6p12.3 2017-09-12 2017-09-12 ENSG00000112077 9479501 752|471|454 Solute carriers|CD molecules|Blood group antigens CCDS4927 OTTHUMG00000016377 180297 NM_000324 Q02094 ENSG00000112077 uc003ozk.5 B2R8T8|O43514|O43515|Q7L8L3|Q9H454 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6005 false 1634EFHC1 114327 __UNKNOWN__ hg19 6 52285209 52285209 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:52285209A>G ENST00000371068.5 + 1 104 c.1A>G c.(1-3)Atg>Gtg p.M1V EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000538167.1_5'Flank|EFHC1_ENST00000491749.1_Intron NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ axoneme (GO:0005930)|neuronal cell body (GO:0043025) calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACCGGCTGCAATGGTGTCCAA 0.6134663341645885 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EU520261 HGNC:16406 Approved gene with protein product protein-coding gene EJM1, EJM "epilepsy, juvenile myoclonic 1", "EF-hand domain (C-terminal) containing 1" FLJ10466 "myoclonin-1" 6p12.2 2016-10-05 2016-04-06 AK001328 ENSG00000096093 15258581 NM_018100 863 EF-hand domain containing CCDS4942, CCDS55021 OTTHUMG00000014848 608815 NM_001172420 Q5JVL4 ENSG00000096093 uc003pap.5 B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 114327 false 1635IMPG1 3617 __UNKNOWN__ hg19 6 76782204 76782204 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:76782204A>T ENST00000369950.3 - 1 192 c.2T>A c.(1-3)aTg>aAg p.M1K IMPG1_ENST00000369963.3_START_CODON_SNP_p.M1K NM_001563.2 NP_001554.2 interphotoreceptor matrix proteoglycan 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTCCAAATACATTCTGGCTTT 0.3167082294264339 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Pancreas(37;839 1141 2599 26037) CH471051 HGNC:6055 Approved gene with protein product protein-coding gene SPACR "sialoprotein associated with cones and rods" IPM150, GP147 6q14.1 2016-10-05 2004-05-25 AF017776 ENSG00000112706 NM_001563 CCDS4985, CCDS75483 OTTHUMG00000015063 602870 NM_001282368 Q17R60 ENSG00000112706 uc032xbg.2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3617 false 1636RIPPLY2 134701 __UNKNOWN__ hg19 6 84567107 84567107 + Nonstop_Mutation SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:84567107A>C ENST00000369689.1 + 4 537 c.386A>C c.(385-387)tAa>tCa p.*129S RIPPLY2_ENST00000369687.1_Nonstop_Mutation_p.*71S|CYB5R4_ENST00000369679.4_5'Flank|CYB5R4_ENST00000369681.5_5'Flank NM_001009994.2 NP_001009994.1 Q5TAB7 RIPP2_HUMAN ripply transcriptional repressor 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ bone morphogenesis (GO:0060349)|determination of left/right symmetry (GO:0007368)|Notch signaling pathway (GO:0007219)|ossification (GO:0001503)|post-anal tail morphogenesis (GO:0036342)|regulation of gene expression (GO:0010468)|somite rostral/caudal axis specification (GO:0032525)|somitogenesis (GO:0001756) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGAAAATTAATCTGATTAG 0.2793017456359102 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:21390 Approved gene with protein product protein-coding gene C6orf159 "chromosome 6 open reading frame 159", "ripply2 homolog (zebrafish)" dJ237I15.1 6q14.2 2014-11-19 2008-05-07 2013-07-23 BC130460 ENSG00000203877 NM_001009994 CCDS34493 OTTHUMG00000015117 609891 NM_001009994 Q5TAB7 ENSG00000203877 uc003pke.5 Q5TAB6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 134701 false 1637RARS2 57038 __UNKNOWN__ hg19 6 88255395 88255397 + In_Frame_Del DEL TTT TTT - 757743894 byFrequency __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:88255395_88255397delTTT ENST00000369536.5 - 7 521_523 c.472_474delAAA c.(472-474)aaadel p.K158del NM_020320.3 NP_064716.2 Q5T160 SYRM_HUMAN arginyl-tRNA synthetase 2, mitochondrial __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418) mitochondrial matrix (GO:0005759) arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTAAAGCTTCTTTGAGATTTGCT 0.2903225806451613 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:21406 Approved gene with protein product protein-coding gene RARSL "arginyl-tRNA synthetase-like" MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2 "arginine tRNA ligase 2, mitochondrial (putative)" 6q15 2016-10-05 2007-02-23 2007-09-27 AK093934 6.1.1.19 ENSG00000146282 17847012 NM_020320 131 Aminoacyl tRNA synthetases, Class I CCDS5011 OTTHUMG00000015178 611524 NM_001318785 Q5T160 ENSG00000146282 uc003pme.4 B2RDT7|Q96FU5|Q9H8K8 true false false false false false false RARS2:57038 false true false false false false false false false false false false false false false false false false false false false false 0 false 0 false 0.999966,3.4343e-005 false false false DIV 0x050000000005040402000200 1 false 144 rs757743894 57038 88255395 true 1638AK9 221264 __UNKNOWN__ hg19 6 109954114 109954114 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:109954114T>A ENST00000285397.5 - 12 1348 c.1266A>T c.(1264-1266)taA>taT p.*422Y AK9_ENST00000368948.2_Intron|AK9_ENST00000424296.2_Intron|AK9_ENST00000341338.6_Intron NM_145025.4 NP_659462.1 Q5TCS8 KAD9_HUMAN adenylate kinase 9 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569) cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634) ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGACAGATAGTTAGTTAGTCA 0.33915211970074816 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:33814 Approved gene with protein product protein-coding gene C6orf224, AKD2, C6orf199, AKD1 "chromosome 6 open reading frame 224", "adenylate kinase domain containing 2", "chromosome 6 open reading frame 199", "adenylate kinase domain containing 1" FLJ42177, FLJ25791, dJ70A9.1, MGC26954 6q21 2015-10-15 2013-04-29 2013-04-29 AK131244, BC146443, BC087860 2.7.4.3 ENSG00000155085 23416111 NM_001145128 356 Adenylate kinases CCDS5077, CCDS55048 OTTHUMG00000157658 615358 NM_001145128 Q5TCS8 ENSG00000155085 A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 221264 false 1639RFX6 222546 __UNKNOWN__ hg19 6 117249986 117249987 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:117249986_117249987insA ENST00000332958.2 + 18 2479 c.2463_2464insA c.(2464-2466)gttfs p.V822fs NM_173560.3 NP_775831.2 Q8HWS3 RFX6_HUMAN regulatory factor X6 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309) nucleus (GO:0005634) transcription regulatory region DNA binding (GO:0044212) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAATCAGCACGTTTCTGTCA 0.3925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:21478 Approved gene with protein product protein-coding gene RFXDC1 "regulatory factor X domain containing 1", "regulatory factor X, 6" MGC33442, dJ955L16.1 "DNA-binding protein RFX6" 6q22.1 2016-10-05 2008-08-04 2015-11-30 BC039248 ENSG00000185002 NM_173560 1153 Regulatory factor X family CCDS5113 OTTHUMG00000015449 612659 NM_173560 Q8HWS3 ENSG00000185002 uc003pxm.4 Q5T6B3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 222546 false 1640TAAR8 83551 __UNKNOWN__ hg19 6 132874859 132874859 + Splice_Site SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:132874859A>G ENST00000275200.1 + 1 1028 c.1028A>G c.(1027-1029)tAa>tGa p.*343* NM_053278.1 NP_444508.1 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G-protein coupled receptor signaling pathway (GO:0007186) integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(3)|oesophagus(1)|pancreas(22) 94 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTTAGAATAAGTTTAAGCA 0.26184538653366585 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ SILENT BC069166 HGNC:14964 Approved gene with protein product protein-coding gene GPR102, TRAR5 "trace amine receptor 5" TA5, TAR5 6q23.2 2014-11-19 2005-02-24 2005-02-23 AF380193 ENSG00000146385 11574155, 15718104 NM_053278 188 Trace amine receptors CCDS5154 OTTHUMG00000015586 606927 NM_053278 Q969N4 ENSG00000146385 uc011ecj.2 Q5VUQ0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 83551 false 1641VNN1 8876 __UNKNOWN__ hg19 6 133004281 133004281 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:133004281A>G ENST00000367928.4 - 7 1554 c.1540T>C c.(1540-1542)Tag>Cag p.*514Q NM_004666.2 NP_004657.2 O95497 VNN1_HUMAN vanin 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ acute inflammatory response (GO:0002526)|cellular component movement (GO:0006928)|chronic inflammatory response (GO:0002544)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|pantothenate metabolic process (GO:0015939)|positive regulation of T cell differentiation in thymus (GO:0033089)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337) anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) GPI anchor binding (GO:0034235)|pantetheine hydrolase activity (GO:0017159) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAATATTCTACCAACTTAAT 0.32418952618453867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U39664 HGNC:12705 Approved gene with protein product protein-coding gene Tiff66 6q23.2 2016-10-05 AJ132099 3.5.1.92 ENSG00000112299 9790769 10 Vanins CCDS5159 OTTHUMG00000015587 603570 NM_004666 O95497 ENSG00000112299 uc003qdo.4 A8K310|Q4JFW6|Q4VAS7|Q4VAS8|Q4VAS9|Q9UF16|Q9UJF4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8876 false 1642BCLAF1 9774 __UNKNOWN__ hg19 6 136603803 136603803 + DE_NOVO_START_OUT_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:136603803A>C ENST00000531224.1 - 2 BCLAF1_ENST00000530767.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000527536.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000527759.1_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000353331.4_DE_NOVO_START_OUT_FRAME|BCLAF1_ENST00000392348.2_5'Flank NM_014739.2 NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2 associated transcription factor 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351) cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634) DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(11)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(266)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 449 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGCTCTGAGAAATTAAACTCT 0.3092269326683292 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Colon(142;1534 1789 5427 7063 28491) D79986 HGNC:16863 Approved gene with protein product protein-coding gene "BCL2-associated transcription factor 1" KIAA0164, BTF "BCLAF1 and THRAP3 family member 1" 6q23.3 2017-06-09 2016-01-28 AF249273 ENSG00000029363 8724849, 10330179 NM_014739 1420 WTAP complex CCDS5177, CCDS47485, CCDS47486, CCDS75525 OTTHUMG00000033323 612588 NM_001077440 Q9NYF8 ENSG00000029363 uc003qgx.1 A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9774 false 1643SUMO4 387082 __UNKNOWN__ hg19 6 149721528 149721528 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:149721528A>G ENST00000326669.4 + 1 34 c.1A>G c.(1-3)Atg>Gtg p.M1V TAB2_ENST00000367456.1_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000536230.1_Intron NM_001002255.1 NP_001002255.1 Q6EEV6 SUMO4_HUMAN small ubiquitin-like modifier 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein sumoylation (GO:0016925) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGTGTTCACCATGGCCAACGA 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:21181 Approved gene with protein product protein-coding gene SMT3H4, IDDM5 "SMT3 suppressor of mif two 3 homolog 4 (yeast)", "SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)", "insulin-dependent diabetes mellitus 5" dJ281H8.4 6q25.1 2015-09-09 2004-05-19 2013-06-05 ENSG00000177688 15123604 CCDS34549 OTTHUMG00000015785 608829 NM_001002255 Q6EEV6 ENSG00000177688 uc003qml.4 A1L3W5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 387082 false 1644SUMO4 387082 __UNKNOWN__ hg19 6 149721529 149721529 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:149721529T>C ENST00000326669.4 + 1 35 c.2T>C c.(1-3)aTg>aCg p.M1T TAB2_ENST00000367456.1_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000536230.1_Intron NM_001002255.1 NP_001002255.1 Q6EEV6 SUMO4_HUMAN small ubiquitin-like modifier 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein sumoylation (GO:0016925) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTTCACCATGGCCAACGAA 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:21181 Approved gene with protein product protein-coding gene SMT3H4, IDDM5 "SMT3 suppressor of mif two 3 homolog 4 (yeast)", "SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)", "insulin-dependent diabetes mellitus 5" dJ281H8.4 6q25.1 2015-09-09 2004-05-19 2013-06-05 ENSG00000177688 15123604 CCDS34549 OTTHUMG00000015785 608829 NM_001002255 Q6EEV6 ENSG00000177688 uc003qml.4 A1L3W5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 387082 false 1645SUMO4 387082 __UNKNOWN__ hg19 6 149721815 149721815 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:149721815A>G ENST00000326669.4 + 1 321 c.288A>G c.(286-288)tgA>tgG p.*96W TAB2_ENST00000367456.1_Intron|TAB2_ENST00000538427.1_Intron|TAB2_ENST00000286332.5_Intron|TAB2_ENST00000536230.1_Intron NM_001002255.1 NP_001002255.1 Q6EEV6 SUMO4_HUMAN small ubiquitin-like modifier 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein sumoylation (GO:0016925) nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(22)|large_intestine(11)|lung(1)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGTCTACTGAAAAGGGAACC 0.39650872817955113 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:21181 Approved gene with protein product protein-coding gene SMT3H4, IDDM5 "SMT3 suppressor of mif two 3 homolog 4 (yeast)", "SMT3 suppressor of mif two 3 homolog 4 (S. cerevisiae)", "insulin-dependent diabetes mellitus 5" dJ281H8.4 6q25.1 2015-09-09 2004-05-19 2013-06-05 ENSG00000177688 15123604 CCDS34549 OTTHUMG00000015785 608829 NM_001002255 Q6EEV6 ENSG00000177688 uc003qml.4 A1L3W5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 387082 false 1646PNLDC1 154197 __UNKNOWN__ hg19 6 160241547 160241547 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:160241547T>C ENST00000392167.3 + 19 1628 c.1594T>C c.(1594-1596)Tga>Cga p.*532R PNLDC1_ENST00000610273.1_Nonstop_Mutation_p.*521R NM_001271862.1 NP_001258791.1 Q8NA58 PNDC1_HUMAN PARN like, ribonuclease domain containing 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|nucleus (GO:0005634) nucleic acid binding (GO:0003676) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATCTGGTACCTGAGTGCAGCG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471051 HGNC:21185 Approved gene with protein product protein-coding gene "poly(A)-specific ribonuclease (PARN)-like domain containing 1" FLJ40240, dJ195P10.2 6q25.3 2016-04-25 2015-11-18 AK097559 ENSG00000146453 NM_173516 CCDS5271, CCDS64561 OTTHUMG00000015941 NM_001271862 Q8NA58 ENSG00000146453 uc003qsy.3 Q5TAP7|Q8N7X5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 154197 false 1647SDIM1 100505705 __UNKNOWN__ hg19 6 166308924 166308924 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr6:166308924G>A ENST00000545867.1 - 1 PDE10A_ENST00000535229.1_Intron Q6ZPB5 SDIM1_HUMAN stress responsive DNAJB4 interacting membrane protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to stress (GO:0033554)|negative regulation of cell death (GO:0060548)|neuron apoptotic process (GO:0051402) integral component of membrane (GO:0016021) protein homodimerization activity (GO:0042803) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGGATCCTCCGTGGTGGCTTT 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AL590482 HGNC:38749 Approved gene with protein product protein-coding gene 6q27 2011-01-31 AK129633 21255413 XM_003118900 Q6ZPB5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 100505705 false 1648ABCB5 340273 __UNKNOWN__ hg19 7 20685486 20685487 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:20685486_20685487insA ENST00000404938.2 + 8 1438 c.786_787insA c.(787-789)gagfs p.E263fs ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000443026.2_5'Flank|ABCB5_ENST00000477094.1_5'Flank NM_001163941.1 NP_001157413.1 Q2M3G0 ABCB5_HUMAN ATP binding cassette subfamily B member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085) integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886) ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562) biliary_tract(2)|breast(48)|central_nervous_system(44)|large_intestine(37)|lung(1)|oesophagus(3)|pancreas(22) 157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TAGGGCCCAGGAGAAAGAAC 0.3725 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GU437216 HGNC:46 Approved gene with protein product protein-coding gene "ATP-binding cassette, sub-family B (MDR/TAP), member 5" EST422562, ABCB5beta, ABCB5alpha "P-glycoprotein ABCB5", "ATP-binding cassette protein" 7p21.1 2016-10-05 2015-11-13 U66692 ENSG00000004846 8894702, 12960149 NM_178559 806 ATP binding cassette subfamily B CCDS5371, CCDS55090, CCDS55091, CCDS55092 OTTHUMG00000094789 611785 NM_001163941 Q2M3G0 ENSG00000004846 uc010kuh.4 A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 340273 false 1649MALSU1 115416 __UNKNOWN__ hg19 7 23338972 23338972 + START_CODON_SNP SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:23338972A>G ENST00000466681.1 + 1 154 c.1A>G c.(1-3)Atg>Gtg p.M1V MALSU1_ENST00000479974.1_Intron NM_138446.1 NP_612455.1 Q96EH3 MASU1_HUMAN mitochondrial assembly of ribosomal large subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ negative regulation of mitochondrial translation (GO:0070130)|ribosomal large subunit biogenesis (GO:0042273) mitochondrion (GO:0005739) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGCTGCTGCTATGGGGCCGGG 0.6708229426433915 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471073 HGNC:21721 Approved gene with protein product protein-coding gene C7orf30 "chromosome 7 open reading frame 30" mtRsfA 7p15.3 2014-11-19 2012-02-20 2012-02-20 BC012331 ENSG00000156928 22238376, 22238375 NM_138446 CCDS5381 OTTHUMG00000128443 614624 NM_138446 Q96EH3 ENSG00000156928 uc003swd.2 A4D154 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 115416 false 1650STK31 56164 __UNKNOWN__ hg19 7 23749905 23749905 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:23749905A>T ENST00000355870.3 + 1 120 c.1A>T c.(1-3)Atg>Ttg p.M1L STK31_ENST00000433467.2_START_CODON_SNP_p.M1L|STK31_ENST00000354639.3_5'Flank|STK31_ENST00000428484.1_5'Flank NM_031414.4 NP_113602.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ acrosomal vesicle (GO:0001669) ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674) biliary_tract(2)|breast(27)|central_nervous_system(60)|haematopoietic_and_lymphoid_tissue(54)|kidney(46)|large_intestine(71)|lung(52)|ovary(52)|pancreas(22)|stomach(54)|testis(13) 453 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAAGTCCAGTATGTGGGTCCA 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC059374 HGNC:11407 Approved gene with protein product protein-coding gene TDRD8, SgK396 7p15.3 2014-11-19 AF285599 ENSG00000196335 11279525 NM_031414 780 Tudor domain containing CCDS5386, CCDS43556, CCDS59049 OTTHUMG00000023053 605790 NM_001260504 Q9BXU1 ENSG00000196335 uc003sws.6 B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 56164 false 1651HOXA5 3202 __UNKNOWN__ hg19 7 27181456 27181457 + Nonstop_Mutation DEL AG AG - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:27181456_27181457delAG ENST00000222726.3 - 2 873_874 c.810_811delCT c.(808-810)cccfs p.*271fs RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA5_ENST00000520854.1_Intron|HOXA3_ENST00000521401.1_5'Flank NM_019102.3 NP_061975.2 P20719 HXA5_HUMAN homeobox A5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anterior/posterior pattern specification (GO:0009952)|bronchiole development (GO:0060435)|cell migration (GO:0016477)|cell-cell signaling involved in mammary gland development (GO:0060764)|embryonic skeletal system morphogenesis (GO:0048704)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|intestinal epithelial cell maturation (GO:0060574)|lung alveolus development (GO:0048286)|lung goblet cell differentiation (GO:0060480)|lung-associated mesenchyme development (GO:0060484)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mesenchymal-epithelial cell signaling (GO:0060638)|multicellular organism growth (GO:0035264)|negative regulation of angiogenesis (GO:0016525)|negative regulation of erythrocyte differentiation (GO:0045647)|positive regulation of apoptotic process (GO:0043065)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|respiratory system process (GO:0003016)|thyroid gland development (GO:0030878)|trachea cartilage morphogenesis (GO:0060535)|transcription, DNA-templated (GO:0006351) nucleus (GO:0005634) DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCAGATACTCAGGGACGGAAGG 0.4651741293532338 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Colon(119;75 2200 7557 42868) M26679 HGNC:5106 Approved gene with protein product protein-coding gene HOX1C, HOX1 "homeo box A5" 7p15.2 2015-09-07 2005-12-22 ENSG00000106004 1973146, 1358459 518 HOXL subclass homeoboxes CCDS5406 OTTHUMG00000023214 142952 NM_019102 P20719 ENSG00000106004 uc003syn.2 A4D179|O43367|Q96CY6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3202 false 1652RP9 6100 __UNKNOWN__ hg19 7 33134848 33134848 + Nonstop_Mutation DEL A A - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:33134848delA ENST00000297157.3 - 6 683 c.664delT c.(664-666)tgafs p.*222fs NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN RP9, pre-mRNA splicing factor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cognition (GO:0050890)|RNA splicing (GO:0008380) nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785) poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATCCTTGTCACTCTGAGTCA 0.4488778054862843 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC025928 HGNC:10288 Approved gene with protein product protein-coding gene "retinitis pigmentosa 9 (autosomal dominant)" PAP-1 "Pim-1 kinase associated protein" 7p14.3 2017-07-07 2017-07-07 AX016710 ENSG00000164610 8513323, 15474994 NM_203288 CCDS5440 OTTHUMG00000152988 607331 NM_203288 Q8TA86 ENSG00000164610 uc003tdm.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 6100 false 1653ABCA13 154664 __UNKNOWN__ hg19 7 48278997 48278998 + Frame_Shift_Ins INS - - GGTA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:48278997_48278998insGGTA ENST00000435803.1 + 9 1081 c.1057_1058insGGTA c.(1057-1059)caafs p.Q353fs NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP binding cassette subfamily A member 13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ transport (GO:0006810) integral component of membrane (GO:0016021) ATP binding (GO:0005524)|ATPase activity (GO:0016887) biliary_tract(2)|breast(11)|central_nervous_system(45)|large_intestine(11)|oesophagus(16)|pancreas(22) 107 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGTCTACCAACAGGTGCT 0.495 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AY204751 HGNC:14638 Approved gene with protein product protein-coding gene "ATP-binding cassette, sub-family A (ABC1), member 13" FLJ33876, FLJ33951 7p12.3 2015-11-13 2015-11-13 AY204751 ENSG00000179869 12697998 NM_152701 805 ATP binding cassette subfamily A CCDS47584 OTTHUMG00000155840 607807 NM_152701 Q86UQ4 ENSG00000179869 uc003toq.2 K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 154664 false 1654VSTM2A 222008 __UNKNOWN__ hg19 7 54610426 54610426 + START_CODON_SNP SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:54610426G>A ENST00000404951.1 + 1 318 c.3G>A c.(1-3)atG>atA p.M1I VSTM2A_ENST00000407838.3_START_CODON_SNP_p.M1I|VSTM2A_ENST00000302287.3_START_CODON_SNP_p.M1I|VSTM2A_ENST00000402613.3_START_CODON_SNP_p.M1I|VSTM2A_ENST00000402026.2_5'UTR|VSTM2A_ENST00000498834.1_5'Flank Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular region (GO:0005576) large_intestine(1) 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTTTGGAATGATGGGGATCT 0.4837905236907731 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC069313 HGNC:28499 Approved gene with protein product protein-coding gene VSTM2 "V-set and transmembrane domain containing 2" MGC33530 7p11.2 2014-11-19 2007-08-10 2007-08-10 BC028404 ENSG00000170419 12477932 NM_182546 590 V-set domain containing CCDS5512, CCDS75604, CCDS83185 OTTHUMG00000129271 NM_001301009 Q8TAG5 ENSG00000170419 uc010kzf.4 A4D2E9|B5MC94 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 222008 false 1655ERV3-1 2086 __UNKNOWN__ hg19 7 64453403 64453403 + START_CODON_SNP SNP A A T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:64453403A>T ENST00000394323.2 - 2 503 c.2T>A c.(1-3)aTg>aAg p.M1K ZNF117_ENST00000282869.6_5'Flank NM_001007253.3 NP_001007254.2 Q14264 ENR1_HUMAN endogenous retrovirus group 3 member 1, envelope __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CATACCCAGCATGGACAGAAA 0.46384039900249374 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ M12140 HGNC:3454 Approved endogenous retrovirus other ERV3 "endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)", "endogenous retroviral sequence 3", "endogenous retrovirus group 3, member 1", "endogenous retrovirus group 3 member 1" H-PLK, HERV-R, ERV-R, envR 7q11.21 2017-03-30 2011-05-05 2017-03-30 AK295189 ENSG00000213462 2115127, 6495650, 21542922 NM_001007253 1412 Envelope ERV derived genes CCDS47595 OTTHUMG00000165023 131170 NM_001007253 Q14264 ENSG00000213462 uc011kdr.3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2086 false 1656ELN 2006 __UNKNOWN__ hg19 7 73442483 73442483 + DE_NOVO_START_IN_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:73442483G>T ENST00000252034.7 + 1 ELN_ENST00000414324.1_DE_NOVO_START_IN_FRAME|ELN_ENST00000320492.7_DE_NOVO_START_IN_FRAME|ELN_ENST00000445912.1_DE_NOVO_START_IN_FRAME|ELN_ENST00000380562.4_DE_NOVO_START_IN_FRAME|ELN_ENST00000358929.4_DE_NOVO_START_IN_FRAME|ELN_ENST00000320399.6_5'Flank|ELN_ENST00000357036.5_5'Flank|ELN_ENST00000380553.4_5'Flank|ELN_ENST00000380575.4_5'Flank|ELN_ENST00000380576.5_5'Flank|ELN_ENST00000380584.4_5'Flank|ELN_ENST00000429192.1_5'Flank|ELN_ENST00000458204.1_5'Flank NM_001278915.1 NP_001265844.1 P15502 ELN_HUMAN elastin __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149) elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578) extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(88)|large_intestine(70)|pancreas(22) 237 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATAAAACGAGGTGCGGAGAG 0.683291770573566 __UNKNOWN__ __UNKNOWN__ T PAX5 B-ALL "Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome" __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ elastin 2006 7 7q11.23 yes L Dom yes X15603 HGNC:3327 Approved gene with protein product protein-coding gene WBS, WS, SVAS "tropoelastin", "supravalvular aortic stenosis", "Williams-Beuren syndrome" 7q11.23 2016-10-05 2008-08-01 ENSG00000049540 8096434 NM_000501 CCDS5562, CCDS43598, CCDS43599, CCDS47611, CCDS47612, CCDS64673, CCDS64674, CCDS64675, CCDS64676, CCDS64677, CCDS64678, CCDS75616, CCDS75617 OTTHUMG00000150229 130160 NM_000501 P15502 ENSG00000049540 uc003tzn.5 B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2006 false 1657HSPB1 3315 __UNKNOWN__ hg19 7 75932030 75932030 + START_CODON_SNP SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:75932030A>C ENST00000248553.6 + 1 170 c.1A>C c.(1-3)Atg>Ctg p.M1L HSPB1_ENST00000429938.1_5'Flank NM_001540.3 NP_001531.1 P04792 HSPB1_HUMAN heat shock protein family B (small) member 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell death (GO:0008219)|cellular component movement (GO:0006928)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|gene expression (GO:0010467)|intracellular signal transduction (GO:0035556)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of protein kinase activity (GO:0006469)|platelet aggregation (GO:0070527)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of translational initiation (GO:0006446)|response to unfolded protein (GO:0006986)|response to virus (GO:0009615)|retina homeostasis (GO:0001895)|RNA metabolic process (GO:0016070) cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)|Z disc (GO:0030018) identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein kinase C inhibitor activity (GO:0008426)|ubiquitin binding (GO:0043130) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 615 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTCAGCCAGCATGACCGAGCG 0.6783042394014963 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Z23090 HGNC:5246 Approved gene with protein product protein-coding gene "heat shock 27kD protein 1", "heat shock 27kDa protein 1" HSP27, HSP28, Hs.76067, Hsp25, CMT2F 7q11.23 2017-03-24 2015-11-19 X54079 ENSG00000106211 2243808, 9344682 585 Small heat shock proteins CCDS5583 OTTHUMG00000023228 602195 NM_001540 P04792 ENSG00000106211 uc003uew.4 B2R4N8|Q6FI47|Q96C20|Q96EI7|Q9UC31|Q9UC34|Q9UC35|Q9UC36 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3315 false 1658GNG11 2791 __UNKNOWN__ hg19 7 93551452 93551452 + START_CODON_SNP SNP G G C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:93551452G>C ENST00000248564.5 + 1 442 c.3G>C c.(1-3)atG>atC p.M1I NM_004126.3 NP_004117.1 P61952 GBG11_HUMAN G protein subunit gamma 11 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281) heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886) GTPase activity (GO:0003924)|signal transducer activity (GO:0004871) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(488)|large_intestine(11)|lung(1)|pancreas(22)|soft_tissue(1) 580 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GGGCGAAAATGCCTGCCCTTC 0.5561097256857855 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U31384 HGNC:4403 Approved gene with protein product protein-coding gene "guanine nucleotide binding protein (G protein), gamma 11" GNGT11 "G protein gamma-11 subunit", "guanine nucleotide-binding protein G(I)/G(S)/G(O) gamma-11 subunit" 7q21.3 2016-10-05 2016-03-03 ENSG00000127920 7665596 NM_004126 1432 G protein subunits gamma CCDS5634 OTTHUMG00000023411 604390 NM_004126 P61952 ENSG00000127920 uc003und.4 P50152 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 2791 false 1659CYP3A5 1577 __UNKNOWN__ hg19 7 99264234 99264235 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:99264234_99264235insA ENST00000222982.4 - 6 611 c.510_511insT c.(511-513)accfs p.T171fs CYP3A5_ENST00000343703.5_Frame_Shift_Ins_p.T161fs|CYP3A5_ENST00000339843.2_3'UTR NM_000777.3 NP_000768.1 P20815 CP3A5_HUMAN cytochrome P450 family 3 subfamily A member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805) endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231) aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825) biliary_tract(2)|breast(11)|central_nervous_system(61)|large_intestine(11)|lung(1)|pancreas(22)|skin(43)|soft_tissue(22) 173 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425) CTTTCAAGGTGACAGGCTTG 0.5025 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ S74700 HGNC:2638 Approved gene with protein product protein-coding gene "cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5", "cytochrome P450, family 3, subfamily A, polypeptide 5" PCN3, P450PCN3, CP35 7q22.1 2016-10-05 2015-12-09 L26985 ENSG00000106258 1002 Cytochrome P450 family 3 CCDS5672, CCDS55134 OTTHUMG00000156724 605325 NM_000777 P20815 ENSG00000106258 uc003urq.4 A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1577 false 1660TRIM4 89122 __UNKNOWN__ hg19 7 99514391 99514392 + Frame_Shift_Ins INS - - C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:99514391_99514392insC ENST00000355947.2 - 2 535 c.404_405insG c.(403-405)tttfs p.F135fs TRIM4_ENST00000349062.2_Intron|TRIM4_ENST00000354241.5_Intron NM_033017.3 NP_148977.2 Q9C037 TRIM4_HUMAN tripartite motif containing 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein trimerization (GO:0070206) cytoplasm (GO:0005737)|plasma membrane (GO:0005886) zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(180)|large_intestine(11)|lung(1)|pancreas(22) 271 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGGATGTCAAAGTTACCTG 0.4375 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471091 HGNC:16275 Approved gene with protein product protein-coding gene "tripartite motif-containing 4" RNF87 "tripartite motif protein TRIM4", "tripartite motif protein 4" 7q22.1 2016-10-05 2011-01-25 AF220023 ENSG00000146833 11331580 NM_033017 59|58 Tripartite motif containing|Ring finger proteins CCDS5678, CCDS5679 OTTHUMG00000156648 NM_033017 Q9C037 ENSG00000146833 uc003usd.4 A4D298|Q75MK1|Q96F06|Q9C036 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 89122 false 1661GJC3 349149 __UNKNOWN__ hg19 7 99527243 99527243 + START_CODON_SNP SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:99527243T>C ENST00000312891.2 - 1 1 c.1A>G c.(1-3)Atg>Gtg p.M1V RP4-604G5.1_ENST00000456499.1_RNA NM_181538.2 NP_853516.1 Q8NFK1 CXG3_HUMAN gap junction protein gamma 3 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell communication (GO:0007154)|myelination (GO:0042552)|sensory perception of sound (GO:0007605) connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209) central_nervous_system(22)|lung(1) 23 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTGCCACACATCCTGTTTTGG 0.5336658354114713 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471091 HGNC:17495 Approved gene with protein product protein-coding gene GJE1 "gap junction protein, epsilon 1, 29kDa", "gap junction protein, gamma 3, 30.2kDa" CX30.2 "connexin 30.2" 7q22.1 2015-11-09 2007-11-06 2015-11-09 AF503615 ENSG00000176402 NM_181538 314 Gap junction proteins CCDS34697 OTTHUMG00000156649 611925 NM_181538 Q8NFK1 ENSG00000176402 uc011kjd.2 A4D296|Q86XI9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 349149 false 1662GAL3ST4 79690 __UNKNOWN__ hg19 7 99757553 99757553 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:99757553A>G ENST00000360039.4 - 4 1852 c.1459T>C c.(1459-1461)Taa>Caa p.*487Q GAL3ST4_ENST00000413800.1_Nonstop_Mutation_p.*487Q|GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000411994.1_3'UTR|GAL3ST4_ENST00000426974.2_Nonstop_Mutation_p.*425Q|C7orf43_ENST00000316937.3_5'Flank|C7orf43_ENST00000394035.2_5'Flank|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000457641.1_5'Flank|C7orf43_ENST00000498638.1_5'Flank|MIR4658_ENST00000584344.1_5'Flank NM_024637.4 NP_078913.3 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790) extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020) 3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698) breast(11)|central_nervous_system(22)|large_intestine(11) 44 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCTGATGTTTATGGGGAGAGT 0.5486284289276808 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471091 HGNC:24145 Approved gene with protein product protein-coding gene FLJ12116 7q22.1 2014-11-18 AF316113 ENSG00000197093 11333265 NM_024637 763 Sulfotransferases, membrane bound CCDS5688 OTTHUMG00000154885 608235 NM_024637 Q96RP7 ENSG00000197093 uc003utu.4 A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 79690 false 1663UFSP1 402682 __UNKNOWN__ hg19 7 100486464 100486464 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:100486464T>G ENST00000388761.2 - 1 876 c.429A>C c.(427-429)tgA>tgC p.*143C NM_001015072.3 NP_001015072.2 Q6NVU6 UFSP1_HUMAN UFM1 specific peptidase 1 (inactive) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ extracellular vesicular exosome (GO:0070062) thiolester hydrolase activity (GO:0016790)|UFM1 hydrolase activity (GO:0071567) central_nervous_system(22) 22 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AACTTCGTCCTCAGTCCAAGG 0.5411471321695761 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH236956 HGNC:33821 Approved gene with protein product protein-coding gene "UFM1-specific peptidase 1 (non-functional)" UFSP 7q22.1 2016-07-04 2016-07-04 AF312032 ENSG00000176125 17182609, 18321862 NM_001015072 CCDS34710 OTTHUMG00000159662 611481 NM_001015072 Q6NVU6 ENSG00000176125 uc003uxc.4 A4D2E4|A8K8V2|B6ZDG6|Q9BXP6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 402682 false 1664FBXL13 222235 __UNKNOWN__ hg19 7 102524676 102524677 + Frame_Shift_Ins INS - - A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:102524676_102524677insA ENST00000313221.4 - 12 1519 c.1091_1092insT c.(1090-1092)acgfs p.D365fs FBXL13_ENST00000436908.1_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000393772.2_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379308.3_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379305.3_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000455112.2_Frame_Shift_Ins_p.D365fs|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000456695.1_Intron NM_145032.3 NP_659469.3 Q8NEE6 FXL13_HUMAN F-box and leucine rich repeat protein 13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACAGTTGTCCGTCAGAGTTG 0.32 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC031285 HGNC:21658 Approved gene with protein product protein-coding gene MGC21636, Fbl13, DRC6 7q22.1 2016-06-06 2016-06-06 BC031285 ENSG00000161040 NM_145032 981|558|1491 Dynein regulatory complex|F-box and leucine rich repeat proteins|Cilia and flagella associated CCDS5726, CCDS47678, CCDS75649 OTTHUMG00000157224 609080 NM_001111038 Q8NEE6 ENSG00000161040 uc003vaq.3 C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 222235 false 1665TMEM168 64418 __UNKNOWN__ hg19 7 112424910 112424910 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:112424910G>A ENST00000312814.6 - 2 TMEM168_ENST00000454074.1_DE_NOVO_START_OUT_FRAME NM_022484.5 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|transport vesicle (GO:0030133) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCCCTCACGTTACAAAAAT 0.3167082294264339 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471070 HGNC:25826 Approved gene with protein product protein-coding gene DKFZp564C012,FLJ13576 7q31.1 2016-10-05 ENSG00000146802 12477932 NM_022484 CCDS5757 OTTHUMG00000155188 NM_001287497 Q9H0V1 ENSG00000146802 uc003vgn.5 A4D0T9|B4DDS0|Q8NEK4|Q9H8J2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64418 false 1666RNF133 168433 __UNKNOWN__ hg19 7 122338970 122338970 + START_CODON_SNP SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:122338970C>T ENST00000340112.2 - 1 241 c.3G>A c.(1-3)atG>atA p.M1I CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron NM_139175.1 NP_631914.1 Q8WVZ7 RN133_HUMAN ring finger protein 133 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein autoubiquitination (GO:0051865) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021) ligase activity (GO:0016874)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGAGTAGATGCATCTCTCTCT 0.3865336658354115 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Colon(198;1778 2057 7449 19869 45985) CH471070 HGNC:21154 Approved gene with protein product protein-coding gene 7q31.32 2016-10-05 AF447589 ENSG00000188050 NM_139175 58 Ring finger proteins CCDS5784 OTTHUMG00000157092 NM_139175 Q8WVZ7 ENSG00000188050 uc003vkj.2 A4D0W2|Q8N7G7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 168433 false 1667NDUFA5 4698 __UNKNOWN__ hg19 7 123197849 123197849 + START_CODON_SNP SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:123197849T>G ENST00000355749.2 - 1 461 c.1A>C c.(1-3)Atg>Ctg p.M1L NDUFA5_ENST00000471770.1_5'Flank|NDUFA5_ENST00000467117.1_Intron NM_005000.2 NP_004991.1 Q16718 NDUA5_HUMAN NADH:ubiquinone oxidoreductase subunit A5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACACCCGCCATGACAGCGCCA 0.5635910224438903 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U64028 HGNC:7688 Approved gene with protein product protein-coding gene "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5 (13kD, B13)", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa", "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5" B13, NUFM, CI-13KD-B, UQOR13, CI-13kB "complex I 13kDa subunit B", "ubiquinone reductase", "type I dehydrogenase", "NADH-ubiquinone oxidoreductase 13 kDa-B subunit" 7q31.32 2016-10-05 2015-11-20 ENSG00000128609 9763677, 9021153 NM_005000 1150 NADH:ubiquinone oxidoreductase supernumerary subunits CCDS5788, CCDS64760, CCDS75655, CCDS75656 OTTHUMG00000157348 601677 NM_001282419 Q16718 ENSG00000128609 uc033afk.2 B2RD98|Q5H9R2|Q6IRX7 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4698 false 1668ZC3HAV1L 92092 __UNKNOWN__ hg19 7 138711291 138711291 + Nonstop_Mutation SNP T T A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:138711291T>A ENST00000275766.1 - 5 914 c.902A>T c.(901-903)tAa>tTa p.*301L NM_080660.3 NP_542391.2 Q96H79 ZCCHL_HUMAN zinc finger CCCH-type containing, antiviral 1 like __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCATCTTCTTTACTTCTCGCA 0.456359102244389 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC020784 HGNC:22423 Approved gene with protein product protein-coding gene C7orf39 "chromosome 7 open reading frame 39" MGC14289 7q34 2017-03-10 2016-02-12 BC008842 ENSG00000146858 NM_080660 CCDS5850 OTTHUMG00000157229 NM_080660 Q96H79 ENSG00000146858 uc003vum.1 Q8WUD9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 92092 false 1669OR2A5 393046 __UNKNOWN__ hg19 7 143748430 143748430 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:143748430A>G ENST00000408906.2 + 1 970 c.936A>G c.(934-936)tgA>tgG p.*312W NM_012365.1 NP_036497.1 Q96R48 OR2A5_HUMAN olfactory receptor family 2 subfamily A member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(2)|pancreas(22) 92 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GATCAAAGTGAGGGATGCCAG 0.48877805486284287 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U86281 HGNC:8232 Approved gene with protein product protein-coding gene OR2A8, OR2A26 "olfactory receptor, family 2, subfamily A, member 5" OR7-138, OR7-141 7q35 2015-12-09 2015-12-09 U86278 ENSG00000221836 9500546 149 Olfactory receptors, family 2 CCDS43668 OTTHUMG00000158006 NM_012365 Q96R48 ENSG00000221836 uc011ktw.3 B9EGX2|O43885|O43888 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 393046 false 1670OR2A25 392138 __UNKNOWN__ hg19 7 143771791 143771792 + Frame_Shift_Ins INS - - TAAC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:143771791_143771792insTAAC ENST00000408898.2 + 1 517 c.479_480insTAAC c.(478-480)gtgfs p.L161fs NM_001004488.1 NP_001004488.1 A4D2G3 O2A25_HUMAN olfactory receptor family 2 subfamily A member 25 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCATCTAGTGTTACTGCTA 0.4525 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH236959 HGNC:19562 Approved gene with protein product protein-coding gene OR2A25P, OR2A27 "olfactory receptor, family 2, subfamily A, member 25" 7q35 2015-12-09 2004-03-10 2015-12-09 ENSG00000221933 149 Olfactory receptors, family 2 CCDS43669 OTTHUMG00000158013 NM_001004488 A4D2G3 ENSG00000221933 uc011ktx.3 B2RNC9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 392138 false 1671GIMAP5 55340 __UNKNOWN__ hg19 7 150434689 150434689 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:150434689C>T ENST00000358647.3 + 1 GIMAP5_ENST00000479556.1_5'Flank NM_018384.4 NP_060854.2 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659) integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741) GTP binding (GO:0005525) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGCACACAGACGCAGAGCAGG 0.5361596009975063 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR457280 HGNC:18005 Approved gene with protein product protein-coding gene IAN4L1 "immune associated nucleotide 4 like 1 (mouse)" HIMAP3, IAN5 "immune-associated nucleotide-binding protein 5" 7q36.1 2015-09-10 2004-10-30 2004-10-29 AK002158 ENSG00000196329 NM_018384 580 GTPases, IMAP CCDS5907 OTTHUMG00000157542 608086 NM_018384 Q96F15 ENSG00000196329 uc064jdz.2 D3DWZ5|Q6IA75|Q96NE4|Q9NUK9 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55340 false 1672HTR5A-AS1 100128264 __UNKNOWN__ hg19 7 154863078 154863078 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:154863078G>A ENST00000395731.2 - 1 HTR5A_ENST00000287907.2_Missense_Mutation_p.V157I|HTR5A-AS1_ENST00000543018.1_DE_NOVO_START_IN_FRAME|HTR5A-AS1_ENST00000493904.1_Intron HTR5A antisense RNA 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCGCAAGTGCGTCTCCAACGT 0.6384039900249376 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC093726 HGNC:48956 Approved RNA, long non-coding non-coding RNA HTR5AOS "HTR5A opposite strand" 7q36.2 2014-10-03 2014-10-03 2014-10-03 BC031272, BC045795 ENSG00000220575 NR_038945 OTTHUMG00000151326 NR_038945 ENSG00000220575 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 100128264 false 1673AC021218.2 __UNKNOWN__ hg19 7 155755336 155755336 + DE_NOVO_START_IN_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr7:155755336C>T ENST00000377722.2 + 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTAGGAGCACGGGTACTACT 0.5037406483790524 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC021218 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1674AGPAT5 55326 __UNKNOWN__ hg19 8 6614907 6614907 + Nonstop_Mutation SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:6614907T>C ENST00000285518.6 + 8 1405 c.1093T>C c.(1093-1095)Tag>Cag p.*365Q NM_018361.3 NP_060831.2 Q9NUQ2 PLCE_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 5 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|hematopoietic progenitor cell differentiation (GO:0002244)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432) endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634) 1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841) AGPAT5{ENST00000285518}:r.1_898_MCPH1{ENST00000344683}:r.2529_3158(2) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATTAAAGCATAGACAAGTAG 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC080537 HGNC:20886 Approved gene with protein product protein-coding gene "1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon)" FLJ11210, LPAAT-e, LPAAT-epsilon "lysophosphatidic acid acyltransferase, epsilon" 8p23.1 2013-02-05 2013-02-05 AF375789 2.3.1.51 ENSG00000155189 NM_018361 46 1-acylglycerol-3-phosphate O-acyltransferases CCDS34796 OTTHUMG00000163656 614796 NM_018361 Q9NUQ2 ENSG00000155189 uc003wqo.4 Q8IZ47|Q9BQG4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 55326 false 1675RP1L1 94137 __UNKNOWN__ hg19 8 10464405 10464405 + Nonstop_Mutation SNP C C G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:10464405C>G ENST00000382483.3 - 4 7427 c.7203G>C c.(7201-7203)taG>taC p.*2401Y NM_178857.5 NP_849188.4 Q8IWN7 RP1L1_HUMAN RP1 like 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601) axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750) biliary_tract(2)|breast(32)|central_nervous_system(44)|haematopoietic_and_lymphoid_tissue(104)|large_intestine(36)|oesophagus(6)|pancreas(22) 246 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTGATCTTGTCTAGAAATCTA 0.516209476309227 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AC105001 HGNC:15946 Approved gene with protein product protein-coding gene "retinitis pigmentosa 1-like 1", "retinitis pigmentosa 1 like 1" DCDC4B "doublecortin domain containing 4B" 8p23.1 2016-12-12 2016-12-12 AY168346 ENSG00000183638 12634863 1369 Doublecortin superfamily CCDS43708 OTTHUMG00000163806 608581 NM_178857 Q8IWN7 ENSG00000183638 uc003wtc.4 Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 94137 false 1676NAT1 9 __UNKNOWN__ hg19 8 18076998 18076998 + DE_NOVO_START_OUT_FRAME SNP G G T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:18076998G>T ENST00000517492.1 + 2 NAT1_ENST00000518029.1_DE_NOVO_START_OUT_FRAME|NAT1_ENST00000535084.1_DE_NOVO_START_OUT_FRAME|NAT1_ENST00000541942.1_DE_NOVO_START_OUT_FRAME|NAT1_ENST00000307719.4_DE_NOVO_START_OUT_FRAME|NAT1_ENST00000539092.1_DE_NOVO_START_OUT_FRAME|NAT1_ENST00000545197.1_Splice_Site_p.K60N|NAT1_ENST00000520546.1_5'Flank|NAT1_ENST00000517441.1_Splice_Site Q8IZM9 S38A6_HUMAN N-acetyltransferase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ amino acid transport (GO:0006865)|sodium ion transport (GO:0006814) integral component of membrane (GO:0016021) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|thymus(14) 104 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TACTAAGAAAGGTATTAAGGG 0.3690773067331671 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X17059 HGNC:7645 Approved gene with protein product protein-coding gene AAC1 "N-acetyltransferase 1 (arylamine N-acetyltransferase)" "arylamine N-acetyltransferase 1" 8p22 2016-06-21 2016-06-21 BC047666 2.3.1.5 ENSG00000171428 7773298 NM_000662 1133 Arylamine N-acetyltransferases CCDS6007, CCDS55205 OTTHUMG00000097001 108345 NM_000662 P18440 ENSG00000171428 uc003wyq.4 C9JWA6|Q86SY5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9 false 1677NAT2 10 __UNKNOWN__ hg19 8 18258384 18258384 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:18258384T>G ENST00000286479.3 + 2 978 c.871T>G c.(871-873)Tag>Gag p.*291E NAT2_ENST00000520116.1_Nonstop_Mutation_p.*161E NM_000015.2 NP_000006.2 P11245 ARY2_HUMAN N-acetyltransferase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805) cytosol (GO:0005829) arylamine N-acetyltransferase activity (GO:0004060) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22)|thymus(14) 105 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Acetaminophen(DB00316)|Clonazepam(DB01068)|Dapsone(DB00250)|Ezogabine(DB04953)|Isoniazid(DB00951)|Sulfamethoxazole(DB01015) CCTTACTATTTAGAATAAGGA 0.3491271820448878 __UNKNOWN__ __UNKNOWN__ Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ incl.: Familial Head and Neck Cancer Familial Cancer Database X14672 HGNC:7646 Approved gene with protein product protein-coding gene AAC2 "N-acetyltransferase 2 (arylamine N-acetyltransferase)" "arylamine N-acetyltransferase 2" 8p22 2016-06-21 2016-06-21 D90042 2.3.1.5 ENSG00000156006 7773298 NM_000015 1133 Arylamine N-acetyltransferases CCDS6008 OTTHUMG00000130826 612182 NM_000015 P11245 ENSG00000156006 uc003wyw.2 O43637|O60654|O60655|Q13146|Q16697|Q2MLE4|Q2MLF5|Q2MLG8|Q2MLJ6|Q2MLK4|Q2MLK6|Q2MLN7|Q6LET4|Q86XS0|Q86XS1|Q96KY8|Q96T64|Q96T65|Q9H220 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10 false 1678TNFRSF10D 8793 __UNKNOWN__ hg19 8 22995385 22995385 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:22995385A>G ENST00000312584.3 - 9 1254 c.1159T>C c.(1159-1161)Tga>Cga p.*387R NM_003840.4 NP_003831.2 Q9UBN6 TR10D_HUMAN TNF receptor superfamily member 10d __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|signal transduction (GO:0007165) integral component of membrane (GO:0016021) transmembrane signaling receptor activity (GO:0004888) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGATTCTTTCACAGGCAGGAC 0.47381546134663344 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC052270 HGNC:11907 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain" DcR2, TRUNDD, TRAILR4, CD264 8p21.3 2016-10-05 2016-06-28 AF029761 ENSG00000173530 9382840, 9537512 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS6038 OTTHUMG00000097845 603614 NM_003840 Q9UBN6 ENSG00000173530 uc003xcz.4 B2R8W0|Q9Y6Q4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8793 false 1679TNFRSF10A 8797 __UNKNOWN__ hg19 8 23049208 23049208 + Nonstop_Mutation SNP C C A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:23049208C>A ENST00000221132.3 - 10 1471 c.1406G>T c.(1405-1407)tGa>tTa p.*469L NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN TNF receptor superfamily member 10a __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462) integral component of membrane (GO:0016021) death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134) biliary_tract(2)|breast(185)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(135)|ovary(58)|pancreas(30)|prostate(58) 615 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGAGTCTTTCACTCCAAGGA 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U90875 HGNC:11904 Approved gene with protein product protein-coding gene "tumor necrosis factor receptor superfamily, member 10a" DR4, Apo2, TRAILR-1, CD261 8p21.3 2016-10-05 2016-06-28 U90875 ENSG00000104689 9311998, 9082980 NM_003844 471|782 CD molecules|Tumor necrosis factor receptor superfamily CCDS6039 OTTHUMG00000097843 603611 NM_003844 O00220 ENSG00000104689 uc003xda.4 A8K5I4|Q53Y72|Q96E62 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8797 false 1680ADAM28 10863 __UNKNOWN__ hg19 8 24211915 24211915 + Nonstop_Mutation SNP T T G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:24211915T>G ENST00000265769.4 + 23 2436 c.2326T>G c.(2326-2328)Tga>Gga p.*776G ADAM28_ENST00000397649.3_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ spermatogenesis (GO:0007283) extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22)|skin(27) 210 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TCCAAAAGCATGAAGCAACAG 0.32917705735660846 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NSCLC(193;488 2149 22258 34798 40734) CH471080 HGNC:206 Approved gene with protein product protein-coding gene "a disintegrin and metalloproteinase domain 28" eMDCII, MDC-Lm, MDC-Ls, ADAM23 8p21.2 2014-11-19 2005-08-18 AJ242015 ENSG00000042980 NM_021778 47 ADAM metallopeptidase domain containing CCDS34865, CCDS47830 OTTHUMG00000163780 606188 NM_001304351 Q9UKQ2 ENSG00000042980 uc003xdy.4 B2RMV5|Q9Y339|Q9Y3S0 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 10863 false 1681PROSC __UNKNOWN__ hg19 8 37635621 37635621 + Nonstop_Mutation DEL G G - __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:37635621delG ENST00000328195.3 + 8 893 c.827delG c.(826-828)tgafs p.A277fs NM_007198.3 NP_009129.1 O94903 PROSC_HUMAN __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ alpha-amino acid metabolic process (GO:1901605) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739) pyridoxal phosphate binding (GO:0030170) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ L-Proline(DB00172) CAGGAGCACTGAGCCAGGGAA 0.47880299251870323 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CR533532 Q6FI94 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 1682IDO2 169355 __UNKNOWN__ hg19 8 39840213 39840214 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:39840213_39840214insT ENST00000389060.4 + 4 358 c.358_359insT c.(358-360)aggfs p.R120fs IDO2_ENST00000502986.2_Frame_Shift_Ins_p.R133fs|RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000343295.4_Intron Q6ZQW0 I23O2_HUMAN indoleamine 2,3-dioxygenase 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441) cytoplasm (GO:0005737)|cytosol (GO:0005829) heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833) breast(1)|central_nervous_system(22)|haematopoietic_and_lymphoid_tissue(104) 127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GAAGTCTCCAGGAACTTGGG 0.445 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ EF052681 HGNC:27269 Approved gene with protein product protein-coding gene INDOL1 "indoleamine-pyrrole 2,3 dioxygenase-like 1" 8p11.21 2014-11-19 2009-01-07 2009-01-07 AK128691 ENSG00000188676 NM_194294 CCDS6114 OTTHUMG00000141271 612129 NM_194294 Q6ZQW0 ENSG00000188676 uc064mgi.1 A4UD41 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 169355 false 1683TTPA 7274 __UNKNOWN__ hg19 8 63978501 63978502 + Frame_Shift_Ins INS - - AA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:63978501_63978502insAA ENST00000260116.4 - 3 546 c.513_514insTT c.(514-516)actfs p.T172fs TTPA_ENST00000521138.1_Intron NM_000370.3 NP_000361.1 P49638 TTPA_HUMAN alpha tocopherol transfer protein __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ embryonic placenta development (GO:0001892)|intermembrane transport (GO:0046909)|intracellular pH reduction (GO:0051452)|lipid metabolic process (GO:0006629)|negative regulation of cell death (GO:0060548)|negative regulation of establishment of blood-brain barrier (GO:0090212)|response to nutrient (GO:0007584)|response to pH (GO:0009268)|response to toxic substance (GO:0009636)|transport (GO:0006810)|vitamin E metabolic process (GO:0042360)|vitamin transport (GO:0051180) cytosol (GO:0005829)|late endosome (GO:0005770) phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Vitamin E(DB00163) CGGATGGAGTGATTTGAAAA 0.3325 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ U21938 HGNC:12404 Approved gene with protein product protein-coding gene AVED "ataxia (Friedreich-like) with vitamin E deficiency", "tocopherol (alpha) transfer protein" 8q12.3 2016-11-01 2016-05-23 BC058000 ENSG00000137561 7719340, 7887897 NM_000370 CCDS6178 OTTHUMG00000164367 600415 NM_000370 P49638 ENSG00000137561 uc003xux.3 Q71V64 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 7274 false 1684PPP1R42 286187 __UNKNOWN__ hg19 8 67900620 67900620 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:67900620A>G ENST00000324682.5 - 6 830 c.685T>C c.(685-687)Taa>Caa p.*229Q PPP1R42_ENST00000522909.1_Intron NM_001013626.2 NP_001013648.1 Q7Z4L9 PPR42_HUMAN protein phosphatase 1 regulatory subunit 42 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ regulation of phosphatase activity (GO:0010921) centrosome (GO:0005813)|cytoplasm (GO:0005737)|manchette (GO:0002177)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815) actin binding (GO:0003779)|dynein binding (GO:0045502)|tubulin binding (GO:0015631) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAATTATATTAATATAAATAT 0.30423940149625933 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC055413 HGNC:33732 Approved gene with protein product protein-coding gene LRRC67 "leucine rich repeat containing 67", "protein phosphatase 1, regulatory subunit 42" dtr, TLLR "testis leucine-rich repeat" 8q13.1 2016-10-05 2011-10-11 2015-11-18 BC055413 ENSG00000178125 NM_001013626 694 Protein phosphatase 1 regulatory subunits CCDS34902 OTTHUMG00000164745 617720 NM_001013626 Q7Z4L9 ENSG00000178125 uc003xxc.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 286187 false 1685SNX16 64089 __UNKNOWN__ hg19 8 82713734 82713734 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:82713734A>G ENST00000345957.4 - 8 1312 c.1033T>C c.(1033-1035)Taa>Caa p.*345Q SNX16_ENST00000353788.4_Nonstop_Mutation_p.*316Q|SNX16_ENST00000396330.2_Nonstop_Mutation_p.*345Q|RP13-923O23.6_ENST00000524337.1_RNA NM_152836.2 NP_690049.1 P57768 SNX16_HUMAN sorting nexin 16 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ early endosome to late endosome transport (GO:0045022)|endosome to lysosome transport (GO:0008333)|protein targeting to lysosome (GO:0006622) early endosome (GO:0005769)|extrinsic component of endosome membrane (GO:0031313)|late endosome (GO:0005770)|lysosome (GO:0005764) identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091) biliary_tract(2)|breast(11)|central_nervous_system(44)|kidney(92)|large_intestine(11)|lung(1)|pancreas(22) 183 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GTGATACATTAGTCTTCTTCA 0.29177057356608477 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471068 HGNC:14980 Approved gene with protein product protein-coding gene 8q21.13 2015-08-26 AF305779 ENSG00000104497 12461558, 12813048 NM_022133 754 Sorting nexins CCDS6234, CCDS6235 OTTHUMG00000164727 614903 NM_022133 P57768 ENSG00000104497 uc011lft.3 A8K4D8|Q658L0|Q8N4U3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 64089 false 1686LRRCC1 85444 __UNKNOWN__ hg19 8 86057746 86057746 + Nonstop_Mutation SNP A A G __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:86057746A>G ENST00000360375.3 + 19 3248 c.3099A>G c.(3097-3099)tgA>tgG p.*1033W LRRCC1_ENST00000414626.2_Nonstop_Mutation_p.*1013W NM_033402.4 NP_208325.3 Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ mitotic nuclear division (GO:0007067) centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AAGATATGTGATGGTTCTGAG 0.2518703241895262 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471068 HGNC:29373 Approved gene with protein product protein-coding gene "leucine rich repeat and coiled-coil domain containing 1" KIAA1764, CLERC, VFL1 "centrosomal leucine-rich repeat and coiled-coil containing protein", "variable number of flagella 1 homolog (Chlamydomonas)" 8q21.2 2015-08-25 2012-04-10 BC030701 ENSG00000133739 11214970, 18728398 NM_033402 CCDS43750 OTTHUMG00000164784 NM_033402 Q9C099 ENSG00000133739 uc003ycw.4 B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 85444 false 1687ATP6V1C1 528 __UNKNOWN__ hg19 8 104061183 104061184 + Splice_Site INS - - TT __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:104061183_104061184insTT ENST00000395862.3 + 4 445 c.286_287insTT c.(286-288)gtgfs p.D97fs ATP6V1C1_ENST00000518738.1_Splice_Site_p.D97fs|ATP6V1C1_ENST00000518857.1_Splice_Site_p.D22fs|ATP6V1C1_ENST00000521514.1_Splice_Site_p.D22fs NM_001695.4 NP_001686.1 P21283 VATC1_HUMAN ATPase H+ transporting V1 subunit C1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085) apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180) hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ GCTAATGGAGGTAAGCTAAT 0.3175 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ FRAME_SHIFT_INS X69151 HGNC:856 Approved gene with protein product protein-coding gene ATP6D, ATP6C "ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1", "ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1" VATC, Vma5 8q22.3 2016-10-05 2002-05-10 2016-02-11 X69151 3.6.3.14 ENSG00000155097 8250920, 14580332 NM_001695 415 V-type ATPases CCDS6296 OTTHUMG00000164761 603097 NM_001695 P21283 ENSG00000155097 uc003yla.4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 528 false 1688DCAF13 25879 __UNKNOWN__ hg19 8 104433259 104433260 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:104433259_104433260insT ENST00000297579.5 + 3 1060 c.783_784insT c.(784-786)ggcfs p.G262fs DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.G106fs|DCAF13_ENST00000521971.1_Intron|DCAF13_ENST00000521999.1_Intron NM_015420.6 NP_056235.4 Q9NV06 DCA13_HUMAN DDB1 and CUL4 associated factor 13 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ protein ubiquitination (GO:0016567)|rRNA processing (GO:0006364) Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529) poly(A) RNA binding (GO:0044822) biliary_tract(2)|breast(32)|central_nervous_system(44)|large_intestine(35)|pancreas(22)|stomach(47) 182 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ AGCACATGAAGGCTTTGTAC 0.33 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC112042 HGNC:24535 Approved gene with protein product protein-coding gene WDSOF1 "WD repeats and SOF1 domain containing" DKFZP564O0463, Gm83, HSPC064, Sof1 8q22.3 2017-05-26 2009-07-17 2009-07-17 AK074725 ENSG00000164934 11042152, 16949367 NM_015420 498|362 DDB1 and CUL4 associated factors|WD repeat domain containing CCDS34934 OTTHUMG00000164888 616196 NM_015420 Q9NV06 ENSG00000164934 uc064pja.1 Q3MII9|Q8NCH8|Q8TC51|Q96JY7|Q9NZX3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 25879 false 1689ATAD2 29028 __UNKNOWN__ hg19 8 124359584 124359584 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:124359584G>A ENST00000521903.1 - 17 ATAD2_ENST00000287394.5_Missense_Mutation_p.R654C|MIR548AA1_ENST00000384971.2_5'Flank Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351) extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634) ATP binding (GO:0005524)|ATPase activity (GO:0016887) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|lung(1)|oesophagus(6)|pancreas(22)|upper_aerodigestive_tract(72) 170 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TGTGGGTAGCGTCGTCGTAAA 0.40648379052369077 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ HGNC:30123 Approved gene with protein product protein-coding gene PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137, ANCCA "AAA nuclear coregulator cancer-associated protein" 8q24.13 2017-11-27 2007-02-08 BC019909 ENSG00000156802 26459632 NM_014109 413|1232 AAA ATPases|Bromodomain containing CCDS6343 OTTHUMG00000165090 611941 NM_014109 Q6PL18 ENSG00000156802 uc003yqh.5 Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 29028 false 1690C8orf17 100507249 __UNKNOWN__ hg19 8 140943503 140943503 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:140943503C>T ENST00000507535.3 + 1 TRAPPC9_ENST00000389328.4_Intron|TRAPPC9_ENST00000438773.2_Intron|TRAPPC9_ENST00000389327.3_Intron Q9NRJ1 MOST1_HUMAN chromosome 8 open reading frame 17 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ endoplasmic reticulum (GO:0005783)|membrane (GO:0016020) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CGAGCATACACGTAATCCTCA 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471060 HGNC:17737 Approved unknown other MOST-1 8q24.3 2016-09-30 AF220264 ENSG00000250733 17143515 OTTHUMG00000140391 616992 Q9NRJ1 ENSG00000250733 uc064qpr.1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 100507249 false 1691PSCA 8000 __UNKNOWN__ hg19 8 143761931 143761931 + DE_NOVO_START_IN_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:143761931C>T ENST00000301258.4 + 1 PSCA_ENST00000513264.1_DE_NOVO_START_IN_FRAME|PSCA_ENST00000505305.1_Intron NM_005672.4 NP_005663.2 O43653 PSCA_HUMAN prostate stem cell antigen __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCAGTGACCACGAAGGCTGTG 0.6483790523690773 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471162 HGNC:9500 Approved gene with protein product protein-coding gene 8q24.3 2016-10-25 AF043498 ENSG00000167653 9465086 NM_005672 1226 LY6/PLAUR domain containing CCDS47925 OTTHUMG00000162077 602470 NM_005672 O43653 ENSG00000167653 uc003ywu.4 Q6UW92 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 8000 false 1692TOP1MT 116447 __UNKNOWN__ hg19 8 144413416 144413416 + DE_NOVO_START_OUT_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr8:144413416G>A ENST00000523676.1 - 3 TOP1MT_ENST00000521193.1_DE_NOVO_START_OUT_FRAME|TOP1MT_ENST00000329245.4_Silent_p.D72D|TOP1MT_ENST00000519148.1_DE_NOVO_START_OUT_FRAME Q969P6 TOP1M_HUMAN DNA topoisomerase I mitochondrial __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DNA replication (GO:0006260)|DNA topological change (GO:0006265) chromosome (GO:0005694)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634) DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918) biliary_tract(2)|breast(12)|central_nervous_system(44)|large_intestine(11)|pancreas(22)|upper_aerodigestive_tract(21) 112 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Irinotecan(DB00762)|Topotecan(DB01030) AACGCACTCCGTCGGGAAGGG 0.6334164588528678 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC071914 HGNC:29787 Approved gene with protein product protein-coding gene "topoisomerase (DNA) I, mitochondrial" 8q24.3 2017-08-04 2017-08-04 AF349018 ENSG00000184428 11526219 NM_052963 1050 Topoisomerases CCDS6400, CCDS59115 OTTHUMG00000164979 606387 NM_001258446 Q969P6 ENSG00000184428 uc003yxz.6 B7ZAR5|E7ES89|Q86ST4|Q86V82 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 116447 false 1693CEP78 84131 __UNKNOWN__ hg19 9 80855026 80855027 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr9:80855026_80855027insT ENST00000376597.4 + 2 485 c.341_342insT c.(340-342)ggcfs p.C115fs CEP78_ENST00000424347.2_Frame_Shift_Ins_p.C115fs|CEP78_ENST00000415759.2_Frame_Shift_Ins_p.C115fs|CEP78_ENST00000277082.5_Frame_Shift_Ins_p.C115fs|CEP78_ENST00000376598.2_Frame_Shift_Ins_p.C115fs NM_001098802.1 NP_001092272.1 Q5JTW2 CEP78_HUMAN centrosomal protein 78 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278) centrosome (GO:0005813)|cytosol (GO:0005829) biliary_tract(2)|central_nervous_system(44)|pancreas(22) 68 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTCTTAAAGGCTGTTTAAGT 0.3475 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC128058 HGNC:25740 Approved gene with protein product protein-coding gene C9orf81 "chromosome 9 open reading frame 81", "centrosomal protein 78kDa" FLJ12643 9q21.2 2016-03-30 2005-12-01 2016-03-30 BC058931 ENSG00000148019 14654843 XM_095991 CCDS47984, CCDS47985, CCDS83376, CCDS83377, CCDS83378 OTTHUMG00000020062 617110 NM_001098802 Q5JTW2 ENSG00000148019 uc004aky.5 A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 84131 false 1694PTGR1 22949 __UNKNOWN__ hg19 9 114355240 114355241 + Frame_Shift_Ins INS - - T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr9:114355240_114355241insT ENST00000407693.2 - 4 438 c.174_175insA c.(175-177)gaafs p.E59fs PTGR1_ENST00000309195.5_Frame_Shift_Ins_p.E59fs|PTGR1_ENST00000538962.1_Frame_Shift_Ins_p.E59fs|PTGR1_ENST00000238248.3_5'UTR NM_001146108.1 NP_001139580.1 Q14914 PTGR1_HUMAN prostaglandin reductase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281) cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062) 13-prostaglandin reductase activity (GO:0036132)|15-oxoprostaglandin 13-oxidase activity (GO:0047522)|2-alkenal reductase [NAD(P)] activity (GO:0032440)|zinc ion binding (GO:0008270) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TATCACCTTCCTTCAATCTT 0.3925 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Ovarian(200;132 2151 7551 19220 46064) D49387 HGNC:18429 Approved gene with protein product protein-coding gene LTB4DH "leukotriene B4 12-hydroxydehydrogenase" ZADH3 "zinc binding alcohol dehydrogenase domain containing 3" 9q31.3 2016-10-05 2008-06-02 2008-06-02 D49387 1.3.1.74, 1.3.1.48 ENSG00000106853 8576264, 17449869 CCDS6779, CCDS55331 OTTHUMG00000020493 601274 NM_001146108 Q14914 ENSG00000106853 uc004bfi.3 A8K0N2|B4DPK3|F5GY50|Q8IYQ0|Q9H1X6 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 22949 false 1695OR1J4 26219 __UNKNOWN__ hg19 9 125282025 125282026 + Frame_Shift_Ins INS - - TGTC __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr9:125282025_125282026insTGTC ENST00000340750.1 + 1 606 c.606_607insTGTC c.(607-609)ggafs p.G203fs NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor family 1 subfamily J member 4 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ integral component of membrane (GO:0016021)|plasma membrane (GO:0005886) G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ TTTCACAGTGGGACAGGCAG 0.4875 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X64979 HGNC:8211 Approved gene with protein product protein-coding gene "olfactory receptor, family 1, subfamily J, member 4" HTPCRX01, HSHTPCRX01 9q33.2 2015-12-09 2015-12-09 X64979 ENSG00000239590 1370859 147 Olfactory receptors, family 1 CCDS35122 OTTHUMG00000020606 NM_001004452 Q8NGS1 ENSG00000239590 uc011lyw.2 A3KFM0|Q6IEZ3|Q96R89 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 26219 false 1696ODF2 4957 __UNKNOWN__ hg19 9 131221884 131221884 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr9:131221884C>T ENST00000393527.3 + 3 ODF2_ENST00000448249.3_DE_NOVO_START_OUT_FRAME|ODF2_ENST00000434106.3_Missense_Mutation_p.T24M|ODF2_ENST00000604420.1_Missense_Mutation_p.T24M|ODF2_ENST00000372791.3_Missense_Mutation_p.T24M|ODF2_ENST00000372814.3_Missense_Mutation_p.T68M|ODF2_ENST00000546203.1_Missense_Mutation_p.T24M|ODF2_ENST00000393533.2_Missense_Mutation_p.T24M|ODF2_ENST00000351030.3_DE_NOVO_START_IN_FRAME|ODF2_ENST00000535026.1_DE_NOVO_START_OUT_FRAME|ODF2_ENST00000372807.5_5'Flank|ODF2_ENST00000444119.2_5'Flank NM_002540.4 NP_002531.3 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286) centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372) Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198) biliary_tract(2)|breast(12)|central_nervous_system(22)|large_intestine(11)|pancreas(22) 69 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ ACGAGTCTCACGCAGAAAAAG 0.4937655860349127 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ BC012785 HGNC:8114 Approved gene with protein product protein-coding gene "outer dense fibre of sperm tails 2" ODF84, CT134 "cancer/testis antigen 134", "cenexin" 9q34.11 2016-10-05 2002-10-21 AF012549 ENSG00000136811 9045620, 10072582 CCDS6902, CCDS56585, CCDS56586, CCDS56587, CCDS56588, CCDS56589, CCDS56590 OTTHUMG00000020748 602015 NM_001242352 Q5BJF6 ENSG00000136811 uc064wes.1 B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4957 false 1697ASS1 445 __UNKNOWN__ hg19 9 133327612 133327612 + DE_NOVO_START_OUT_FRAME SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr9:133327612C>T ENST00000372394.1 + 3 ASS1_ENST00000352480.5_DE_NOVO_START_OUT_FRAME|ASS1_ENST00000372393.3_DE_NOVO_START_OUT_FRAME P00966 ASSY_HUMAN argininosuccinate synthase 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050) cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204) amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|pancreas(22) 90 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155) TCCCGCCAGACGCTATGTCCA 0.6234413965087282 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ X01630 HGNC:758 Approved gene with protein product protein-coding gene ASS "argininosuccinate synthetase" CTLN1 9q34.11 2016-10-05 2006-08-24 2010-04-20 X01630 6.3.4.5 ENSG00000130707 3513483, 852520 NM_000050 CCDS6933 OTTHUMG00000020806 603470 NM_000050 P00966 ENSG00000130707 uc004bzn.4 Q6LDL2|Q86UZ0|Q96GT4 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 445 false 1698SEC16A 9919 __UNKNOWN__ hg19 9 139371562 139371562 + DE_NOVO_START_IN_FRAME SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chr9:139371562G>A ENST00000371706.3 - 1 SEC16A_ENST00000313050.7_Missense_Mutation_p.T169M|SEC16A_ENST00000290037.6_5'Flank|SEC16A_ENST00000431893.2_5'Flank NM_001276418.1 NP_001263347.1 O15027 SC16A_HUMAN SEC16 homolog A, endoplasmic reticulum export factor __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762) cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139) SEC16A{ENST00000313050}:r.1_118_NOTCH1{ENST00000277541}:r.5244_9371(2)|SEC16A{ENST00000313050}:r.1_118_NOTCH1{ENST00000277541}:r.5095_9371(2) genital_tract(91)|testis(65)|upper_aerodigestive_tract(1) 157 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CCCATGAGACGTTTCAGGATC 0.6084788029925187 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ DQ903855 HGNC:29006 Approved gene with protein product protein-coding gene KIAA0310 "KIAA0310", "SEC16 homolog A (S. cerevisiae)" p250, Sec16L 9q34.3 2015-07-23 2007-06-20 2015-07-23 AK074565 ENSG00000148396 17192411, 21045114 NM_014866 CCDS55351, CCDS75936 OTTHUMG00000020932 612854 NM_001276418 O15027 ENSG00000148396 uc064xcg.1 A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 9919 false 1699IDS 3423 __UNKNOWN__ hg19 X 148582542 148582542 + DE_NOVO_START_OUT_FRAME SNP A A C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrX:148582542A>C ENST00000422081.2 - 4 IDS_ENST00000340855.6_Missense_Mutation_p.S149A|IDS_ENST00000370441.4_Missense_Mutation_p.S149A|IDS_ENST00000541269.1_DE_NOVO_START_OUT_FRAME|IDS_ENST00000370443.4_Missense_Mutation_p.S149A|IDS_ENST00000490775.1_Intron P22304 IDS_HUMAN iduronate 2-sulfatase __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281) lysosomal lumen (GO:0043202) iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872) biliary_tract(2)|breast(11)|central_nervous_system(44)|large_intestine(11)|lung(1)|pancreas(22) 91 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CTATACGGAGAATCATCGGTA 0.3940149625935162 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ CH471171 HGNC:5389 Approved gene with protein product protein-coding gene SIDS "Hunter syndrome" Xq28 2016-10-05 2008-08-01 M58342 3.1.6.13 ENSG00000010404 410 Sulfatases CCDS14685, CCDS14686 OTTHUMG00000022615 300823 NM_000202 P22304 ENSG00000010404 uc011mxe.3 D3DWT4|Q14604|Q9BRM3 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 3423 false 1700MT-ND1 4535 __UNKNOWN__ hg19 MT 72 72 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:72T>C ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTCTGGGGGGTATGCACGCGA 0.4375 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1701MT-ND1 4535 __UNKNOWN__ hg19 MT 125 125 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:125T>C ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TATGTCGCAGTATCTGTCTTT 0.4523076923076923 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1702MT-ND1 4535 __UNKNOWN__ hg19 MT 212 212 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:212T>C ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AGTGTGTTAATTAATTAATGC 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1703MT-ND1 4535 __UNKNOWN__ hg19 MT 217 217 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:217T>C ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTTAATTAATTAATGCTTGTA 0.44139650872817954 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1704MT-ND1 4535 __UNKNOWN__ hg19 MT 228 228 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:228G>A ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AATGCTTGTAGGACATAATAA 0.43640897755610975 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1705MT-ND1 4535 __UNKNOWN__ hg19 MT 236 236 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:236T>C ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TAGGACATAATAATAACAATT 0.4389027431421446 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1706MT-ND1 4535 __UNKNOWN__ hg19 MT 246 246 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:246T>C ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TAATAACAATTGAATGTCTGC 0.4339152119700748 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1707MT-ND1 4535 __UNKNOWN__ hg19 MT 295 295 + 5'Flank SNP C C T __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:295C>T ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAAAAAATTTCCACCAAACCC 0.42144638403990026 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1708MT-ND1 4535 __UNKNOWN__ hg19 MT 489 489 + 5'Flank SNP T T C __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:489T>C ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ATCTCATCAATACAACCCCCG 0.46633416458852867 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1709MT-ND1 4535 __UNKNOWN__ hg19 MT 499 499 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:499G>A ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-TL1_ENST00000386347.1_5'Flank|MT-TF_ENST00000387314.1_5'Flank|MT-TV_ENST00000387342.1_5'Flank|MT-RNR2_ENST00000387347.2_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-RNR1_ENST00000389680.2_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TACAACCCCCGCCCATCCTAC 0.4688279301745636 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1710MT-ND1 4535 __UNKNOWN__ hg19 MT 1719 1719 + 5'Flank SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:1719G>A ENST00000361390.2 + MT-ND2_ENST00000361453.3_5'Flank|MT-CO1_ENST00000361624.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TL1_ENST00000386347.1_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-TW_ENST00000387382.1_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GACAACCTTAGCCAAACCATT 0.4114713216957606 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1711MT-ND1 4535 __UNKNOWN__ hg19 MT 3316 3316 + Missense_Mutation SNP G G A __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ NA NA __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ g.chrM:3316G>A ENST00000361390.2 + 1 10 c.10G>A c.(10-12)Gcc>Acc p.A4T MT-ND2_ENST00000361453.3_5'Flank|MT-CO1_ENST00000361624.2_5'Flank|MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_5'Flank|MT-TM_ENST00000387377.1_5'Flank|MT-TW_ENST00000387382.1_5'Flank|MT-TD_ENST00000387419.1_5'Flank|MT-TK_ENST00000387421.1_5'Flank P03886 NU1M_HUMAN mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281) integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747) NADH dehydrogenase (ubiquinone) activity (GO:0008137) __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CATACCCATGGCCAACCTCCT 0.4613466334164589 __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ __UNKNOWN__ V00662 HGNC:7455 Approved gene with protein product protein-coding gene MTND1 "NADH dehydrogenase 1", "mitochondrially encoded NADH dehydrogenase 1" ND1, NAD1 "complex I ND1 subunit", "NADH-ubiquinone oxidoreductase chain 1" mitochondria 2015-11-20 2005-02-16 2015-11-20 1.6.5.3 ENSG00000198888 YP_003024026 1149 NADH:ubiquinone oxidoreductase core subunits 516000 P03886 ENSG00000198888 uc064xou.1 C0JKH6|Q37523 false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false false 4535 false 1712