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8.7 years ago
Ömer An
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260
In the ANNOVAR output, there is annotation for the nucleotide change only for the coding variants (exonic, splicing, UTRs etc.) but not for intronic variants. How to get the actual nucleotide change on the transcript in a strand-specific manner for all input variants?
In the example output below, genes ATM and CLPX both have a change of A>G although the input Ref & Alt are A>G and T>C, respectively. How can I get the same info for intronic variants as well?
Chr Start End Ref Alt Func.refGene Gene.refGene GeneDetail.refGene
8 42388940 42388940 T C intronic SLC20A2 -
1 207943260 207943260 A G intronic CD46 -
16 74361884 74361884 T C intergenic PSMD7,LOC283922 dist=21698;dist=4420
10 44067194 44067194 T C intronic ZNF239 -
16 89582444 89582444 A G intronic SPG7 -
1 155696455 155696455 A G intronic DAP3 -
4 140520751 140520751 T C intergenic SETD7,MGST2 dist=42828;dist=66171
16 89755457 89755457 A G intronic CDK10 -
11 108236477 108236477 A G UTR3 ATM NM_000051:c.*242A>G
12 42753813 42753813 A G intronic PPHLN1 -
16 592643 592643 A G intronic CAPN15 -
11 493435 493435 A G intergenic PTDSS2,RNH1 dist=2048;dist=1077
20 34218094 34218094 T C intronic CPNE1 -
19 44663518 44663518 A G UTR3 ZNF234 NM_006630:c.*1246A>G,NM_001144824:c.*1246A>G
15 65442032 65442032 T C UTR3 CLPX NM_006660:c.*1129A>G
1 6283439 6283439 T C UTR3 ICMT NM_012405:c.*1701A>G
18 12031309 12031309 A G downstream IMPA2 -
X 48342958 48342958 A G intronic FTSJ1 -
2 178161752 178161752 A G ncRNA_intronic LOC100130691 -