Download Nic`s genome contains 16124 variants, relative the human reference

Nic’s genome contains 16,124 variants,
relative the human reference sequence.
Protein coding variants …………………… 15,272 / 1,407
Insertions ………………………. 147 / 65
Deletions ……………………….. 239 / 119
Substitutions …………………. 14,886 / 1,223
Nonsynonymous variants ………………. 7,158 / 879
Insertions ………………………. 117 / 51
Deletions ……………………….. 232 / 112
Substitutions …………………. 6,799 / 706
From 16,124 variants
1
Homozygous or hemizygous ……………………………………………… 70
Predicted to be damaging ……………………………………………….. 17
Novel (against dbSNP 130) ……………………………………………….. 8
Altering highly conserved positions ………………………………….. 4
Not found in reference genome sequences ……………………… 2
Not known to frequently contain deleterious mutations …. 1
XIAP
Clinical confirmation – by Sanger Sequencing
UGU encodes Cys
UAU encodes Tyr
Only Nic amongst all humans and all these other animals
have a Y at amino acid 203 of the XIAP gene
humans are not that different than a shrew, or a chicken or a house fly!