Note: Scoring of VCF files with CADD v1.7 is still rather slow if many new variants need to be calculated from scratch (e.g., if many insertion/deletion or multinucleotide subsitutions are included). If possible use the pre-scored whole genome and pre-calculated indel files directly where possible. We are very sorry for the inconvenience.

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Please provide a (preferentially gzip-compressed) VCF file of your variants. VCF is a tab-separated text format widely used to describe genomic variants. For information on the VCF format see http://vcftools.sourceforge.net/specs.html. It is sufficient to provide the first 5 columns of a VCF file without header, as all other information than CHROM, POS, REF, ALT will be ignored anyway. The maximum accepted file size is set at 2MB (>100,000 variants for 5 column compressed VCF). Your upload will fail if you try to upload files larger than 2MB or if the extension of your file is not vcf, gz, tsv or txt. It will also fail if the file is formatted with only MAC new line characters ('\r'). UNIX ('\n') and Windows ('\r\n') formatted files will work.