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; RA ( Y ^ table dhcHumDerDenAnc
"Human Derived, Denisova Ancestral variants and functional effect predictions from high-coverage Denisova sequencing project"
(
string chrom; "Reference sequence chromosome"
uint chromStart; "Start position in chromosome"
uint chromEnd; "End position in chromosome"
string name; "Human allele / Denisova ancestral allele"
string feature; "Ensembl Transcript ID or Regulatory Region ID
or ID of TFB profile from JASPAR or TRANSFAC"
string gene; "Ensembl Gene ID"
string extra; "Extra info: for coding genes, Ensembl Protein ID and/or HGNC;
for Regulatory Motifs, scores & matrix ID"
string consequence; "Variant Effect Predictor (VEP) consequence term"
string cdnaPosition; "Offset in transcript, if applicable"
string cdsPosition; "Offset in coding sequence (CDS), if applicable"
string protPosition; "Offset in protein sequence, if applicable"
string aminoAcids; "Amino acid change, if applicable"
string codons; "Codon change, if applicable"
string humanAl; "Modern human fixed (or major) allele on positive strand"
string denAl; "Denisova (ancestral) allele"
string chimpAl; "Chimpanzee ancestral allele"
string gorAl; "Gorilla ancestral allele"
string orangAl; "Orangutan ancestral allele"
string denZyg; "Denisova zygosity of ancestral allele (homozygous/heterozygous)"
string dbSNP; "dbSNP rs ID, if available"
float tgpFreq; "1000 Genomes Project frequency of modern human allele"
string flag; "Flag(s): CpG if in CpG island; RM if in repeat masked region;
LowQual if conflicting GATK calls; SysErr if prone to systematic errors"
char geneStrand; "Gene strand: '+' or '-', if applicable; otherwise '.'"
)
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