Research Article

NovelSNPer: A Fast Tool for the Identification and Characterization of Novel SNPs and InDels

Table 4

Example detailed output file. NovelSNPer generates the output file Output_detailed.txt with one line per variation per transcript.

NameChr Start End Allele RefAllele Codon AA refAA Class Transcript Strand

var1 12 12483171 12483171 C G GCS Ala Ala SYNONYMOUS_CODING ENST00000355566 1
var1 12 12483171 12483171 C G GCS Ala Ala SYNONYMOUS_CODING ENST00000396349 1
var2 12 12483200 12483200 G T MAA Gln Lys NON_SYNONYMOUS_CODING ENST00000355566 1
var2 12 12483200 12483200 G T MAA Gln Lys NON_SYNONYMOUS_CODING ENST00000396349 1
var3 12 12506184 12506184 T NA NA NA DOWNSTREAM LOH12CR2 1
var4 12 12527105 12527108 GATT TTAG NA NA NA INTRONIC ENST00000298571 1
var4 12 12527105 12527108 GATT TTAG NA NA NA INTRONIC ENST00000314565 1
var5 12 12550471 12550471 A/G T NA NA NA INTRONIC ENST00000298571 1
var5 12 12550471 12550471 A/G T NA NA NA INTRONIC ENST00000314565 1
var6 12 12588583 12588583 A C TMC Tyr Ser NON_SYNONYMOUS_CODING ENST00000298571 1
var6 12 12588583 12588583 A C TMC Tyr Ser NON_SYNONYMOUS_CODING ENST00000314565 1
var7 12 12588586 12588587 CA C[-/CA]A Cis ProThr FRAMESHIFT ENST00000298571 1
var7 12 12588586 12588587 CA C[-/CA]A Cis ProThr FRAMESHIFT ENST00000314565 1