COL7A1 and hematologic disorder: There were recurrent mutations expressed in CLSTN2, COL7A1, CSMD2 and DYSF. Recurrent mutations or mutations previously reported to be related with hematological malignancies such as RUNX1 or AKT1 were validated using Sanger sequencing or deep sequencing and summarized into 7 functional groups with DNA copy number alterations in Figure 2 and Table 2.