TNNT3 and nemaline myopathy: In Patient 1 the LongRanger pipeline called a putative heterozygous 48.5 kb long inversion chr11:1,915,271–1,961,063 (hg19 coordinates), including the entire TNNT3 gene, which is associated with recessive nemaline myopathy (Supplementary Table S7/Fig. S4 online).