Table 3

Detail information of the selected variants
ID Chr Start End Typea Gene Ref depthb Alt depthb Function prediction
4:1 3:5 4:1 3:5 PROVEAN SIFT Polyphen-2 FATHMM MutationTaster MutationAssessor
1 3 53531321 53531321 C/G CACNA1D 66 89 91 81 -1.894 0.03 Benign -3.74 Disease causing 0.345
2 6 7727522 7727522 -/AGC BMP6 14 8 7 22 -0.67 - - - - -
3 12 57556718 57556718 G/A LRP1 79 70 69 69 -1.693 0.041 Probably damaging -4.26 Disease causing 1.225
4 12 974355 974355 -/C WNK1 75 106 105 78 - - - - - -
5 15 48826326 48826326 G/T FBN1 28 41 26 25 - - - - - -
6 15 100252710 100252715 CAGCAG/- MEF2A 65 57 38 85 1.329 - - - - -
7 18 28648998 28649000 TCC/- DSC2 79 91 61 43 -6.656 - - - - -

aThe first allele is the reference allele.

bDepth of the alleles. The id of each sample is in correspondence with that in Figure 1.

PROVEAN: If the PROVEAN score is < = -2.5, the protein variant is predicted to be deleterious. If the score is above the -2.5, the variant is predicted to be neutral.

SIFT: Ranges from 0 to 1. The amino acid substitution is predicted damaging if the score is < = 0.05, and tolerated if the score is > 0.05.

MutationAssessor: Range from -5.76 to 5.73. The variant is predicted non-functional if the score is < =1.938, and functional if the score is > 1.938.

FATHMM: The variant is predicted damaging if the score is < 0, and tolerated if the score is >0.

Li et al.

Li et al. Diagnostic Pathology 2014 9:25   doi:10.1186/1746-1596-9-25

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