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chapmanb/biostar_challenge_ZC3H7B.vcf

Created December 21, 2011 20:46
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BioStar Challenge variants in ZC3H7B
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biostar_challenge_ZC3H7B.vcf
child_111217_biostar-variants.vcf:chr22 41742029 . T A 201.60 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=3.515;DP=22;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=6.7867;MQ=48.95;MQ0=0;MQRankSum=0.853;QD=9.16;ReadPosRankSum=0.853;SNPEFF_AMINO_ACID_CHANGE=C/*;SNPEFF_CODON_CHANGE=tgT/tgA;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_22_41742007_41742212;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H7B;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000351589;set=child_111217_biostar-sort-dup-gatkrecal-realign-variants-snp-filterSNP GT:AD:DP:GQ:PL 0/1:8,14:22:1.52:230,0,2
child_111217_biostar-variants.vcf:chr22 41742047 . C G 71.96 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=-0.972;DP=19;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=6.7516;MQ=48.19;MQ0=0;MQRankSum=-2.071;QD=3.79;ReadPosRankSum=0.972;SNPEFF_AMINO_ACID_CHANGE=C/W;SNPEFF_CODON_CHANGE=tgC/tgG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_22_41742007_41742212;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351589;set=child_111217_biostar-sort-dup-gatkrecal-realign-variants-snp-filterSNP GT:AD:DP:GQ:PL:PQ 1|0:12,7:19:99:102,0,216:119.05
father_111217_biostar-variants.vcf:chr22 41742029 . T A 261.09 PASS AC=2;AF=1.00;AN=2;BaseQRankSum=3.575;DP=23;Dels=0.00;FS=0.000;HRun=2;HaplotypeScore=7.7924;MQ=43.00;MQ0=0;MQRankSum=-1.570;QD=11.35;ReadPosRankSum=0.568;SNPEFF_AMINO_ACID_CHANGE=C/*;SNPEFF_CODON_CHANGE=tgT/tgA;SNPEFF_EFFECT=STOP_GAINED;SNPEFF_EXON_ID=exon_22_41742007_41742212;SNPEFF_FUNCTIONAL_CLASS=NONSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H7B;SNPEFF_IMPACT=HIGH;SNPEFF_TRANSCRIPT_ID=ENST00000351589;set=father_111217_biostar-sort-dup-gatkrecal-realign-variants-snp-filterSNP GT:AD:DP:GQ:PL 1|1:7,16:23:7.42:293,7,0
mother_111217_biostar-variants.vcf:chr22 41742047 . C G 166.66 PASS AC=1;AF=0.50;AN=2;BaseQRankSum=0.272;DP=18;Dels=0.00;FS=0.000;HRun=1;HaplotypeScore=9.7478;MQ=44.10;MQ0=0;MQRankSum=-1.087;QD=9.26;ReadPosRankSum=-1.449;SNPEFF_AMINO_ACID_CHANGE=C/W;SNPEFF_CODON_CHANGE=tgC/tgG;SNPEFF_EFFECT=NON_SYNONYMOUS_CODING;SNPEFF_EXON_ID=exon_22_41742007_41742212;SNPEFF_FUNCTIONAL_CLASS=MISSENSE;SNPEFF_GENE_BIOTYPE=protein_coding;SNPEFF_GENE_NAME=ZC3H7B;SNPEFF_IMPACT=MODERATE;SNPEFF_TRANSCRIPT_ID=ENST00000351589;set=mother_111217_biostar-sort-dup-gatkrecal-realign-variants-snp-filterSNP GT:AD:DP:GQ:PL 0/1:7,11:18:99:197,0,104
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