Entering edit mode
2 days ago
ramiro.barrantes
▴
20
I am trying to interpret a VCF file but there is one part which I still don't quite get. For example:
chr11 62529120 . C A . PASS CSQ=A|missense_variant|MODERATE|AHNAK|ENSG00000124942|Transcript|ENST00000378024|protein_coding|5/5||||5543/18761|5297/17673|1766/5890|G/V|gGc/gTc|rs76414066||-1||SNV|HGNC|HGNC:347|YES|MANE_Select|NM_001620.3||2||CCDS31584.1|ENSP00000367263|Q09666.195||UPI00004EC29C|Q09666-1||deleterious(0.01)|unknown(0)|MobiDB_lite:mobidb-lite||0.0032|0|0.0115|0|0.007|0.001|0.01082|0.001882|0.0055|0.007576|0|0.004231|0.006068|0.01263|0.01283|0.002666|0.007365|0.002047|0.007675|0.007973|0.00634|0|0.002925|0.01701|0.01206|0.00759|0.002696|0.01701|gnomADg_MID||benign||1||||||;DP=102;MQ=60.00;MQ0=0;NT=ref;QSS=127;QSS_NT=127;ReadPosRankSum=0.08;SGT=CC->AC;SNVSB=0.00;SOMATIC;SomaticEVS=19.73;TQSS=1;TQSS_NT=1 **DP:FDP:SDP:SUBDP:AU:CU:GU:TU 49:0:0:0:0,0:49,49:0,0:0,0 52:0:0:0:27,28:25,25:0,0:0,0**
It looks to me like there are two sets of genotype information, but what do they correspond to?
DP:FDP:SDP:SUBDP:AU:CU:GU:TU 49:0:0:0:0,0:49,49:0,0:0,0 52:0:0:0:27,28:25,25:0,0:0,0
Any pointers?
well, all the required information : the samples' names, the definition of the FORMAT field should be defined in the VCF header.
this is a pretty weird VCF file as there is no "GT" field