The functions around pattern entries are still beta features and error-prone. Your error reports will be much appreciated.
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\b[Dd]elta[A-Z]?\d+[-]?\d+\b
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SequenceVariant |
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\brs\d+\b
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SequenceVariant |
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\d+-?\d+\s?(del|ins|dup|fs)\s?[A-Z]+
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SequenceVariant |
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\d+\s?-?bp\s(deletion|insertion)
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SequenceVariant |
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\d+\sSNP
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SequenceVariant |
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deletion\sof\s[A-Za-z]+
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SequenceVariant |
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Δ\d+(deletion)?
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SequenceVariant |
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\d+-?\d+del\s?[A-Z]+
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SequenceVariant |
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[A-Z][a-z][a-z]\s\d+\s[A-Z][a-z][a-z]
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SequenceVariant |
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[cgmnrp]\.[0-9]+\s[A-Za-z]+>[A-Za-z]+
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SequenceVariant |
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\b-?\d{2,}-[A-Z]{1,3}\b
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SequenceVariant |
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\b-?\d{2,}[A-Z]{1,3}\b
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SequenceVariant |
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\b[A-Z][+-]?\d{2,}[+-]?[A-Z]\b
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SequenceVariant |
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\b[A-Z]-->[A-Z]\b
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SequenceVariant |
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\b(del|ins|dup|fs)\d+[A-Z]+\b
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SequenceVariant |
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