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README.md
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- `target`: Whether the specified sequence contains a pathogenic mutation.
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- `cds`: Binary track which reports position of first nucleotide in each codon in CDS.
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- `splice`: Binary track which reports position of the 3' end of each exon, indicating splice sites.
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- `description`: Description of the sequence, either in the format `
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Note: The position of the variant is 1-indexed (ClinVar notation) and refers to the position of the variant on the positive strand.
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- `target`: Whether the specified sequence contains a pathogenic mutation.
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- `cds`: Binary track which reports position of first nucleotide in each codon in CDS.
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- `splice`: Binary track which reports position of the 3' end of each exon, indicating splice sites.
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- `description`: Description of the sequence, either in the format `chr{chr}:{position} {ref_base}:{alt_base}[,optional variant impact]` or `wild-type` for the unmodified sequence.
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Note: The position of the variant is 1-indexed (ClinVar notation) and refers to the position of the variant on the positive strand.
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