1 2 3 4 5 6 7 8 9 10 11 12
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##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##contig=<ID=1>
##contig=<ID=2>
##contig=<ID=20>
##contig=<ID=X>
##INFO=<ID=BCSQ,Number=.,Type=String,Description="Local consequence annotation from BCFtools/csq, see http://samtools.github.io/bcftools/howtos/csq-calling.html for details. Format: Consequence|gene|transcript|biotype|strand|amino_acid_change|dna_change">
#CHROM POS ID REF ALT QUAL FILTER INFO
1 145075172 . G A . . BCSQ=intron|PDE4DIP||protein_coding,non_coding|PDE4DIP||retained_intron,non_coding|PDE4DIP||processed_transcript,intron|PDE4DIP||NMD
2 175216515 . A G . . BCSQ=intron|CIR1||protein_coding,non_coding|CIR1||retained_intron
20 37400393 . C T . . BCSQ=synonymous|ACTR5|ENST00000243903|protein_coding|+|586S|37400393C>T
X 48822646 . T G . . BCSQ=missense|KCND1|ENST00000376477|protein_coding|-|135T>135P|48822646T>G,missense|KCND1|ENST00000218176|protein_coding|-|512T>512P|48822646T>G,missense|KCND1|ENST00000419374|protein_coding|-|83T>83P|48822646T>G
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