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Table 4 Validation of MEI detection in WGS and WES paired-end data

From: Mobster: accurate detection of mobile element insertions in next generation sequencing data

Whole genome
Chr Predicted insertion point MEI Gene component a Gene name Genotype TSD Novel b Validated
chr1 60,470,596 Alu Intronic C1orf87 Heterozygous Duplication   Yes
chr1 83,201,791 L1 Intergenic   Heterozygous Duplication Yes Yes
chr1 93,167,519 Alu Intronic EVI5 Homozygous Unknown   Yes
chr1 142,803,597 L1 Intergenic   Homozygous reference Duplication Yes No
chr3 103,171,382 Alu Intergenic   Heterozygous Deletion   Yes
chr4 80,883,493 Alu Intronic ANTXR2 Heterozygous Duplication Yes Yes
chr8 53,791,040 Alu Intergenic   Heterozygous Duplication   Yes
chr8 132,672,106 Alu Intergenic   Heterozygous Duplication Yes Yes
chr10 130,625,059 L1 Intergenic   Heterozygous Duplication   Yes
chr17 43,660,608 SVA Intergenic   Heterozygous Unknown   Yes
chr20 29,638,569 L1 Upstream MLLT10P1 Heterozygous Duplication   Yes
Whole exome
Chr Predicted insertion point MEI Gene component a Gene name Genotype TSD Novel b Validated
chr1 93,167,519 Alu Intronic EVI5 Homozygous Unknown   Yes
chr2 11,426,360 Alu Intronic ROCK2 Homozygous Unknown   Yes
chr3 50,879,159 Alu Exonic DOCK3 Homozygous Unknown   Yes
chr5 173,036,482 L1 Exonic BOD1 NA Unknown Yes No
chr6 52,712,717 Alu Intergenic   Homozygous Unknown   Yes
chr9 68,415,155 Alu Intergenic   NA Unknown   Yesc
chr11 428,014 Alu Intronic ANO9 Homozygous Unknown   Yes
chr11 112,084,617 L1 Intronic BCO2 Heterozygous Unknown   Yes
chr17 61,565,890 Alu Intronic ACE Heterozygous Unknown   Yes
chr19 52,888,055 Alu Exonic ZNF880 Homozygous Duplication   Yes