使用自建数据库。用ANNOVAR的annotate_variation.pl进行注释时,没有报错。
[*****@head ****]$ perl ../tessDSS/annovar/annotate_variation.pl -geneanno -buildver HP ./bin/M5-31.avinput HPdb/
NOTICE: Output files are written to ./bin/M5-31.avinput.variant_function, ./bin/M5-31.avinput.exonic_variant_function
NOTICE: Reading gene annotation from HPdb/HP_refGene.txt ... Done with 1609 transcripts (including 43 without coding sequence annotation) for 1609 unique genes
NOTICE: Processing next batch with 6421 unique variants in 6421 input lines
NOTICE: Reading FASTA sequences from HPdb/HP_refGeneMrna.fa ... Done with 220 sequences
但是使用table_annovar.pl进行注释时就会报错
[**********@head******]$ perl ../tessDSS/annovar/table_annovar.pl ./bin/M5-31.avinput HPdb/ -buildver HP -out o -remove -protocol refGene -operation gx -nastring . -csvout
NOTICE: the --polish argument is set ON automatically (use --nopolish to change this behavior)
-----------------------------------------------------------------
NOTICE: Processing operation=gx protocol=refGene
WARNING: the 'g' rather than 'gx' operation will used due to lack of -xreffile argument
NOTICE: Running with system command <annotate_variation.pl -geneanno -buildver HP -dbtype refGene -outfile o.refGene -exonsort -nofirstcodondel ./bin/M5-31.avinput HPdb/>
NOTICE: Output files are written to o.refGene.variant_function, o.refGene.exonic_variant_function
NOTICE: Reading gene annotation from HPdb/HP_refGene.txt ... Done with 1609 transcripts (including 43 without coding sequence annotation) for 1609 unique genes
NOTICE: Processing next batch with 6421 unique variants in 6421 input lines
NOTICE: Reading FASTA sequences from HPdb/HP_refGeneMrna.fa ... Done with 220 sequences
NOTICE: Running with system command <coding_change.pl o.refGene.exonic_variant_function.orig HPdb//HP_refGene.txt HPdb//HP_refGeneMrna.fa -alltranscript -out o.refGene.fa -newevf o.refGene.exonic_variant_function>
Error: invalid record found in exonic_variant_function file (exonic format error): <line101 frameshift deletion gene:HP_0024:transcript:AAD07096:exon1:c.29_36del:p.W10fs, Chromosome 22931 22938 GGAAACTA - 1 35.44 1 Chromosome 22930 . TGGAAACTA T 35.44 PASS AC=2;AF=1.00;AN=2;DP=1;ExcessHet=0.0000;FS=0.000;MLEAC=1;MLEAF=0.500;MQ=60.00;QD=31.88;SOR=1.609 GT:AD:DP:GQ:PGT:PID:PL:PS 1|1:0,1:1:3:1|1:22930_TGGAAACTA_T:45,3,0:22930> at ../tessDSS/annovar/coding_change.pl line 77, <EVF> line 1.
Error running system command: <coding_change.pl o.refGene.exonic_variant_function.orig HPdb//HP_refGene.txt HPdb//HP_refGeneMrna.fa -alltranscript -out o.refGene.fa -newevf o.refGene.exonic_variant_function>
报错提示:
Error: invalid record found in exonic_variant_function file (exonic format error): <line101
Error running system command: <coding_change.pl
请问各位老师,这是为什么呀。我需要的到类似于官网上面table_annovar.pl注释后的VCF文件的带有基因名的表格,请问该怎么做。