Skip to main content

Table 2 Mosaics detected in individuals with matched cardiovascular tissue and blood

From: EM-mosaic detects mosaic point mutations that contribute to congenital heart disease

IDGeneVariant classPipelineCHD tissueBlood WES VAF
LocationWES ADWES VAFMiSeq VAFWES ADWES VAFMiSeq VAF
1-00543CTCFLBmisEM-mosaicAO138,360.210.3229,80.220.19
1-00984ZNF16synEM-mosaicLV262,10.000.01100,70.070.07
1-01282GABRA6DmisMosaicHunterRV104,10.010.0155,120.180.18
1-01684CCNCBmisBothAoValve, RV36,70.160.17, 0.19224,400.150.14
1-02672TOR1AsynBothAtrSpt159,100.060.1029,60.170.19
1-03512RFX3LoFMosaicHunterRV156,150.090.0839,00.000.03
1-04652PCDH10synBothAtrSpt154,190.110.1415,10.060.10
1-07004ANK2BmisMosaicHunterSubAoMembr226,130.050.0430,00.000.00
1-07004MYH14BmisBothSubAoMembr124,220.150.2733,00.000.00
1-07004NRG3BmisEM-mosaicSubAoMembr152,300.160.2443,00.000.00
1-07004NUDT21BmisBothSubAoMembr137,220.140.1474,00.000.02
1-07004TET3DmisMosaicHunterSubAoMembr131,10.010.0381,160.160.27
1-07299RRS1synBothRV, UNK160,250.140.2522,20.080.14
1-09869PIK3C2GLoFMosaicHunterLV126,90.070.1031,00.000.00
1-11800TMEM45ABmisMosaicHunterRV213,00.000.0032,70.180.06
  1. Characteristics of mosaic variants predicted for individuals with blood and cardiovascular tissue WES data available. Among 15 mosaics, 5 were detected via analysis of blood WES, 8 were detected from cardiovascular tissue WES, and 2 were detected by both approaches. Six of 7 (86%) mosaics detected from analysis of blood were present in both DNA sources with MiSeq VAF ≥ 0.01. Two additional variants previously identified as de novo germline variants in blood WES were absent from CHD tissue WES. Minimum 1023 MiSeq reads used to determine VAF. Note: multiple cardiovascular tissue samples were available for participants 1-01684 and 1-07299. Abbreviations: AD allelic depth (reference, alternate), AO aorta, AtrSpt atrial septum, Bmis benign missense, Dmis deleterious missense, LOF loss of function variant, LV left ventricle, RV right ventricle, VAF variant allele fraction