Table 5 Artificial mosaicism detection frequencies obtained with NGS experiment (Low coverage sequencing run and high coverage sequencing run)

ID

Mutation type

Diluiton (%)

Variant Coverage

Variant call (%)

False positive (%)

Variant Coverage

Variant call (%)

False Positive (%)

22

c.2359C > T

10.00 %

35

7.00 %

Not calculated

571

6.00 %

Not calculated

5.00 %

24

5.00 %

Not calculated

220

4.00 %

Not calculated

1.00 %

7

2.00 %

0.00 %

239

2.97 %

0.01 %

ID

Mutation type

Diluiton (%)

Variant Coverage

Variant call (%)

Error insertions (%)

Variant Coverage

Variant call (%)

Error insertions (%)

4

c.274insT

10.00 %

163

9.00 %

Not calculated

2946

10.4 %

Not calculated

5.00 %

60

6.25 %

Not calculated

707

5.8 %

Not calculated

1.00 %

1

2.00 %

0.00 %

9

1.60 %

0.00 %

ID

Mutation type

Diluiton (%)

Variant Coverage

Variant call (%)

Error deletions (%)

Variant Coverage

Variant call (%)

Error deletions (%)

7

c.837_841delGAACA

10.00 %

35

4.76 %

Not calculated

503

6.1 %

Not calculated

5.00 %

30

3.6 %

Not calculated

298

2.97 %

Not calculated

1.00 %

6

0.76 %

0.00 %

51

0.6 %

0.02 %

c.843delG

10.00 %

37

5.00%

Not calculated

508

6.1 %

Not calculated

5.00 %

31

3.7 %

Not calculated

299

2.98 %

Not calculated

1.00 %

6

0.76 %

0.00 %

49

0.6 %

0.00 %