Number of subject : 1517 in ( Ref. version: )

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● Chromosome

● dbSNP id/COSMIC id/OMIM id:

Example: rs9682412, COSM999573, 615016 (dbSNP id or COSMIC id or OMIM id)

● Gene/Gene list:

Example: brca1, sox4

● Hotspot list:

Please input hotspot list with BED format

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Transcript ablation Missense variant Non-coding exon variant Regulatory region ablation
Splice acceptor variant Splice region variant Intron variant Regulatory region amplification
Splice donor variant Incomplete terminal codon variant NMD transcript variant Feature elongation
Stop gained Stop retained variant Non-coding transcript variant Regulatory region variant
Frameshift variant Synonymous variant Upstream gene variant Feature truncation
Stop lost Coding sequence variant Downstream gene variant Intergenic variant
Transcript amplification Mature miRNA variant TFBS ablation Initiator codon variant
Inframe insertion 5' UTR variant TFBS amplification    
Inframe deletion 3' UTR variant TFBS variant    
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  • MAF
  • Example: 0.03 or 0.1-0.3
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