mutect2 genotyping wrong?
AnsweredIf you are seeing an error, please provide(REQUIRED) :
a) GATK version used:
b) Exact command used:
c) Entire error log:
If not an error, choose a category for your question(REQUIRED):
a)How do I (......)?
b) What does (......) mean?
c) Why do I see (......)?
d) Where do I find (......)?
e) Will (......) be in future releases?
as seen below, the first sample "normal" has 6 ALTs but classified as 0/0, however, the secondary sample "tumor" has 0 ALT but classified as 0/1 and alternative allele frequency 0.020, why?
chr12 25380275 . T G . contamination;normal_artifact;weak_evidence AS_FilterStatus=weak_evidence,contamination;AS_SB_TABLE=79,82|3,3;DP=171;ECNT=1;GERMQ=93;MBQ=20,20;MFRL=142,141;MMQ=60,60;MPOS=16;NALOD=-7.887e+00;NLOD=2.99;POPAF=6.00;TLOD=-1.680e+00 GT:AD:AF:DP:F1R2:F2R1:SB 0/0:87,6:0.068:93:47,4:36,2:44,43,3,3 0/1:74,0:0.020:74:34,0:30,0:35,39,0,0
some additional information:
1) we called mutation with mutect2 in cancer only mode, and mutect2 found mutation in before-treatment but no mutation in after-treatment sample.
2) we then use before-treatment as "normal" and after-treatment sample as "tumor" as paired samples for mutect2 and expect to see mutation change. however, mutect2 by default setting did not call this mutation, we then used force-calls mode to call this mutation, as what I have described above, this output is not understandable !
I used gatk v4.2.2.0 and v4.1.8.1 and got the same result:
thanks for help!
If you are seeing an error, please provide(REQUIRED) :
a) GATK version used:
b) Exact command used:
c) Entire error log:
If not an error, choose a category for your question(REQUIRED):
a)How do I (......)?
b) What does (......) mean?
c) Why do I see (......)?
d) Where do I find (......)?
e) Will (......) be in future releases?
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Hi Jeffcgen2000,
Could you take a look at this troubleshooting article? When HaplotypeCaller and Mutect2 do not call an expected variant. It was created for the same type of question you are asking here. I would specifically recommend looking at the bamout and also determining if this site passes filtering.
Please let me know if you have further questions. If so, it would also be helpful to see your command line.
Best,
Genevieve
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