Allele Call
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Decision whether the allele is detected (Heterozygous or Homozygous), not detected (Absent), or filtered (No Call). No Call and Absent are for only hotspot calls.
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Subset Of
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The name of the called allele that is a strict superset of the two SNPs. For example, if a called (homozygous or heterozygous) MNP is composed of two SNPs, then the MNP is considered to be a strict superset of the two SNPs.
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Variant Type
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The type of the variant called.
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SNP—single nucleotide polymorphism.
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IND—insertion.
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DEL—deletion.
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MNP—multiple nucleotide polymorphism or the substitution of a block sequence by the block of another length.
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COMPLEX—Block substitution of sequence by a block of unequal length.
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Allele Source
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Allele source is called as:
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Allele Name
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The allele name as defined in the hotspots file.
For novel alleles, the name is defined as
tvc.novel.#.
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Gene ID
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The Gene ID as defined in the target regions file.
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Region Name
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The region name as defined in the target regions file.
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