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. 2011 Apr 21;32(8):894–899. doi: 10.1002/humu.21517

Table 4.

Format of Queries for Input File

Query type Formata Example
NS chr pos ref alt Y 140855 A C
chr pos ref alt refAA altAA Y 140855 A C M L
Genome position chr pos 10 94454459
Gene gene_name PLCXD1
gene_id 55344
CCDS_id CCDS14103.1
a

Separated by tab or space. chr: chromosome number; pos: position on chromosome; ref: reference allele; alt: alternative allele; refAA: reference amino acid; altAA: alternative amino acid; gene_name: gene name; gene_id: gene Entrez ID; CCDS_id: CCDS ID.