mmm I dont know if I do something wrong but...
this is from data base of uniprot_:
chr11 4123342 4123345 P23921 0 + 4123342 4123345 255,102,102 1 3 0 . Proton acceptor.
I had been working annotate the activ site to my exome genome secuency, my surprise was to get this:
chr11 4123345 . C G 463.337 PASS AF=1;AO=51;DP=51;FAO=49;FDP=49;FR=.;FRO=0;FSAF=25;FSAR=24;FSRF=0;FSRR=0;FWDB=-0.00950073;FXX=0.039208;HRUN=1;LEN=1;MLLD=70.9911;OALT=G;OID=.;OMAPALT=G;OPOS=4123345;OREF=C;PB=0.5;PBP=1;QD=37.8234;RBI=0.0557591;REFB=0;REVB=0.0549437;RO=0;SAF=27;SAR=24;SRF=0;SRR=0;SSEN=0;SSEP=0;SSSB=0;STB=0.5;STBP=1;TYPE=snp;VARB=0.000627396;FUNC=[{'transcript':'NM_001033.3','gene':'RRM1','location':'intronic'}];ACTIVSITE=Proton acceptor. GT:GQ:DP:FDP:RO:FRO:AO:FAO:AF:SAR:SAF:SRF:SRR:FSAR:FSAF:FSRF:FSRR
Intronic???? shouldn't be all exonic the annotations? If someone can explain me I would appreciate it.
Thanks