Table 1 SNV identified by replicated ES of CMT proband.

Total reads produced

117,685,348

107,207,362

119,508,046

118,716,380

41,268,598

71,113,537

2,469,936,140

1,479,177,846

Duplicate reads (%)

4.98

3.63

5.86

5.74

25.10

19.34

5.00

2.29

Total reads aligned (%)

97.80

98.66

96.76

97.09

99.16

98.83

58.12

96.57

Aligned reads on target (%)

64.90

69.70

70.59

70.66

60.81

71.66

N/A

N/A

Average coverage

138x

137x

170x

169x

65x

93x

29.6x

47.6x

Median coverage

110x

111x

140x

139x

60x

80x

N/A

40x

Targets hit (%)

99.42

99.32

99.42

99.40

99.22

99.29

N/A

N/A

Bases targeted

35,432,211

35,432,211

35,432,211

35,432,211

35,432,211

35,432,211

N/A

N/A

Targeted bases with 10+ coverage (%)

97.58

97.49

97.98

97.99

95.84

94.64

N/A

N/A

Targeted bases with 20+ coverage (%)

96.19

96.18

97.23

97.21

92.28

91.28

N/A

N/A

Targeted bases with 40+ coverage (%)

90.60

91.08

94.59

94.53

75.19

80.75

N/A

N/A

Total SNPs

102,444

91,661

92,553

91,484

41,958

57,243

3,420,306

4,016,486

cSNPs (n)

23,321

22,869

23,017

22,980

20,372

22,079

18,829

24,475

nsSNPs (n)

11,491

11,217

11,288

11,252

11,363

10,821

9,069

12,370

Total c_inDels

8,879

8,249

9,576

9,375

N/A

N/A

N/A

10,439