Skip to main content

Table 1 Annotation information output by SeqAnt.

From: SeqAnt: A web service to rapidly identify and annotate DNA sequence variations

Field ID

Annotation Field

Description

1

Chromosome

Chromosome containing variant site

2

Genome Position

Absolute position of variant site on a chromosome

3

Gene Name

Name of the locus containing the variant site*

4

Gene Strand

Orientation of locus*

5

Functional Category

Annotated functional category for variant site

6

Reference Allele

Reference allele at the variant site

7

Minor Allele

Minor allele at the variant site

8

Variation Type

Type of variant (either SNP or Indel)

9

Reference Amino Acid

Reference amino acid at variant site**

10

Amino Acid Position

Position of the amino acid in the peptide chain**

11

Modified Amino Acid

Modified amino acid due to variant site**

12

Warnings

Possible errors (if any) detected in the RefSeq annotation

13

RefSeq ID

RefSeq ID reported by the UCSC track

14

dbSNP ID

dbSNP ID if the variant site has already been reported

15

dbSNP Heterozygosity

Corresponding dbSNP heterozygosity if variant site has already been reported

16

dbSNP Orientation

Corresponding dbSNP orientation of variant site if it has already been reported

17

PhastCons Score

PhastCons score for variant site

18

Sample IDs

List of sample IDs with variant (when multiple sample IDs are present)

  1. Some annotation fields only apply to specific functional categories or input data types (* Exonic, UTR; ** Exonic)