ANNOVAR filter based annotation - ClinVar
0
0
Entering edit mode
12 months ago

Hi,

I am performing filter based annotation using Annovar for my vcf file generated using GATK4.

The command used is:

annotate_variation.pl -filter -out sample -build hg19 -dbtype clinvar_20221231  sample.avinput humandb/

The output I got the following output:

clinvar_20221231        192257  1       100316       100317       C       G       1       100316       .       C       G       250.64  filter  AC=1;AF=0.500;AN=2;BaseQRankSum=1.35;DP=24;ExcessHet=0.0000;FS=3.949;MLEAC=1;MLEAF=0.500;MQ=57.00;MQRankSum=0.00;QD=10.44;ReadPosRankSum=-1.402e+00;SOR=0.552  GT:AD:DP:GQ:PL  0/1:15,9:24:99:258,0,406

According to Annovar documentation the output I am supposed to get is in this format:

clinvar_20140211 CLINSIG=other|other;CLNDBN=Inflammatory_bowel_disease_17\x2c_protection_against|Psoriasis\x2c_protection_against;CLNACC=RCV000003254.2|RCV000003255.2 1 67705958 67705958 G A comments: rs11209026 (R381Q), a SNP in IL23R associated with Crohn's disease
clinvar_20140211 CLINSIG=pathogenic|pathogenic|pathogenic|pathogenic;CLNDBN=Deafness\x2c_autosomal_recessive_1A|Deafness\x2c_digenic\x2c_GJB2/GJB6|Hereditary_hearing_loss_and_deafness|not_provided;CLNACC=RCV000018527.27|RCV000018528.27|RCV000037843.1|RCV000080373.1 13 20763686 20763686 comments: rs1801002 (del35G), a frameshift mutation in GJB2, associated with hearing loss
clinvar_20140211 CLINSIG=other;CLNDBN=Inflammatory_bowel_disease_1\x2c_susceptibility_to;CLNACC=RCV000004957.1 16 50745926 50745926 comments: rs2066844 (R702W), a non-synonymous SNP in NOD2

Compared to this my output file does not have any information such as CLINSIG, CLNDBN etc. rather than a 6 digit number. When I checked this number in ClinVar database it shows a different variant in a different position.

I would like to know how can I get the information mentioned in the documentation.

Thank you.

Annovar clinvar • 589 views
ADD COMMENT

Login before adding your answer.

Traffic: 2008 users visited in the last hour
Help About
FAQ
Access RSS
API
Stats

Use of this site constitutes acceptance of our User Agreement and Privacy Policy.

Powered by the version 2.3.6