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| 1 | +##fileformat=VCFv4.1 |
| 2 | +##INFO=<ID=TESTDESC,Number=1,Type=String,Description="Description of what this VCF row tests"> |
| 3 | +##INFO=<ID=EXPECTED_AF,Number=1,Type=Float,Description="Expected alt allele frequency computed from correctly parsed genotypes"> |
| 4 | +##INFO=<ID=EXPECTED_N_MISSING,Number=1,Type=Integer,Description="Expected number of samples with missing genotypes after parsing"> |
| 5 | +##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype"> |
| 6 | +##FORMAT=<ID=PL,Number=G,Type=Integer,Description="Phred-scaled genotype likelihoods"> |
| 7 | +##FORMAT=<ID=GL,Number=G,Type=Float,Description="Log10-scaled genotype likelihoods"> |
| 8 | +#CHROM POS ID REF ALT QUAL FILTER INFO FORMAT S01 S02 S03 S04 S05 S06 S07 S08 S09 S10 |
| 9 | +20 100000 . A T 60 PASS TESTDESC=PL_only_all_present;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 PL 0,30,50 0,30,50 50,0,50 50,0,50 50,30,0 50,30,0 0,30,50 50,0,50 50,30,0 0,30,50 |
| 10 | +20 101000 . A T 60 PASS TESTDESC=GL_only_all_present;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 GL 0,-3,-5 0,-3,-5 -5,0,-5 -5,0,-5 -5,-3,0 -5,-3,0 0,-3,-5 -5,0,-5 -5,-3,0 0,-3,-5 |
| 11 | +20 102000 . A T 60 PASS TESTDESC=GT_only_all_present;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 GT 0/0 0/0 0/1 0/1 1/1 1/1 0/0 0/1 1/1 0/0 |
| 12 | +20 103000 . A T 60 PASS TESTDESC=PL_missing_falls_back_to_GT;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 GT:PL 0/0:0,30,50 0/0:. 0/1:50,0,50 0/1:. 1/1:50,30,0 1/1:. 0/0:0,30,50 0/1:50,0,50 1/1:50,30,0 0/0:0,30,50 |
| 13 | +20 104000 . A T 60 PASS TESTDESC=GL_missing_falls_back_to_GT;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 GT:GL 0/0:0,-3,-5 0/0:. 0/1:-5,0,-5 0/1:. 1/1:-5,-3,0 1/1:. 0/0:0,-3,-5 0/1:-5,0,-5 1/1:-5,-3,0 0/0:0,-3,-5 |
| 14 | +20 105000 . A T 60 PASS TESTDESC=PL_GL_GT_cascade_fallback;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 GT:PL:GL 0/0:0,30,50:0,-3,-5 0/1:.:-5,0,-5 1/1:.:. 0/0:0,30,50:0,-3,-5 0/1:.:-5,0,-5 1/1:.:. 0/0:0,30,50:0,-3,-5 0/1:.:-5,0,-5 1/1:50,30,0:-5,-3,0 0/0:.:0,-3,-5 |
| 15 | +20 106000 . A T 60 PASS TESTDESC=PL_partial_missing_falls_back_to_GT;EXPECTED_AF=0.35;EXPECTED_N_MISSING=0 GT:PL 0/0:50,.,. 0/0:0,30,50 0/1:50,0,50 0/0:50,.,30 0/1:50,0,50 1/1:50,30,0 0/0:0,30,50 0/1:50,0,50 1/1:50,30,0 0/0:0,30,50 |
| 16 | +20 107000 . A T 60 PASS TESTDESC=GL_partial_missing_falls_back_to_GT;EXPECTED_AF=0.35;EXPECTED_N_MISSING=0 GT:GL 0/0:-5,.,. 0/0:0,-3,-5 0/1:-5,0,-5 0/0:-5,.,0 0/1:-5,0,-5 1/1:-5,-3,0 0/0:0,-3,-5 0/1:-5,0,-5 1/1:-5,-3,0 0/0:0,-3,-5 |
| 17 | +20 108000 . A T 60 PASS TESTDESC=GT_partial_missing_one_allele;EXPECTED_AF=0.5;EXPECTED_N_MISSING=1 GT 0/0 ./1 0/1 0/1 1/1 1/1 0/0 0/1 1/1 0/0 |
| 18 | +20 109000 . A T 60 PASS TESTDESC=GT_phased_genotypes;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 GT 0|0 0|0 0|1 1|0 1|1 1|1 0|0 0|1 1|1 0|0 |
| 19 | +20 110000 . A T 60 PASS TESTDESC=all_fields_missing_two_samples;EXPECTED_AF=0.4375;EXPECTED_N_MISSING=2 GT:PL:GL 0/0:0,30,50:0,-3,-5 0/1:50,0,50:-5,0,-5 ./.:.:. 1/1:50,30,0:-5,-3,0 0/0:0,30,50:0,-3,-5 ./.:.:. 0/1:50,0,50:-5,0,-5 1/1:50,30,0:-5,-3,0 0/0:0,30,50:0,-3,-5 0/1:50,0,50:-5,0,-5 |
| 20 | +20 111000 . A T 60 PASS TESTDESC=PL_takes_priority_over_GL;EXPECTED_AF=0.45;EXPECTED_N_MISSING=0 GT:PL:GL 0/0:0,30,50:-5,0,-5 0/1:50,0,50:0,-3,-5 1/1:50,30,0:-5,-3,0 0/0:0,30,50:-5,0,-5 0/1:50,0,50:0,-3,-5 1/1:50,30,0:-5,-3,0 0/0:0,30,50:-5,0,-5 0/1:50,0,50:0,-3,-5 1/1:50,30,0:-5,-3,0 0/0:0,30,50:0,-3,-5 |
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