MINTIE: identifying novel structural and splice variants in transcriptomes using RNA-seq data

Table 1 List of variants detectable by MINTIE from Cummings et al. [14] rare muscle disease data

Patient	Gene	Junction 1	Junction 2	DNA variant	RNA variant	Detected variant
E2	NEB	chr2:151687733-151690727		SNP	Skipped exon	Y
	NEB	chr2:151687733-151688175		SNP	Extended exon	Y
	NEB	chr2:151687733-151688007		SNP	Extended exon	Y
C9	NEB	chr2:151531896-151533330		SNP	Extended exon	Y
N25	NEB	chr2:151498352-151498491		SNP	Novel exon	Y
N31	COL6A1	chr21:45989778-45989894	chr21:45989965-45990258	SNP	Novel exon	Y
N32	COL6A1	chr21:45989778-45989894	chr21:45989965-45990258	SNP	Novel exon	Y
C11	RYR1	chr19:38467720-38468966		SNP	Truncated exon	Y
C1	POMGNT1	chr1:46194651-46195811		SNP	Skipped exon	N (low CPM)
	POMGNT1	chr1:46189357-46189458		SNP	Retained intron	Y
E4	TTN	chr2:178580609-178581906	chr2:151498552-151499298	INDEL	Skipped exon	N (not assembled)
N22	TTN	chr2:178777317-178777460		SNP	Truncated exon	N (low CPM)
C3	DMD	chrX:31729748-31819975		Inversion-deletion	Skipped exon	N (EC not significant)

ISSN: 1474-760X