Table 5 Mutation validation

APC

HT-29

p.E853*

c.2557G > T

5:112173848

OK

Yes

428

214

APC

HCT-15

p.I1417fs*2

c.4248delC

5:112175539

OK

Yes

2

963

APC

HT-29

p.T1556fs*3

c.4666_4667insA

5:112175957

OK

Yes

608

355

APC

HCT-15

p.R2166*

c.6496C > T

5:112177787

OK

Yes

247

360

BRCA2

HCT-15

p.C1200fs*1

c.3599_3600delGT

13:32912089

OK

Yes

165

114

BRCA2

HCT-15

p.N1784fs*7

c.5351delA

13:32913837

OK

Yes

272

302

MLH1

DU-145

p.?

c.117-2A > T

3:37038108

OK

Yes

0

476

MLH1

IGROV-1

p.S505fs*3

c.1513delA

3:37070378

OK

Yes

5

605

MLH1

CCRF-CEM

p.R100*

c.298C > T

3:37042536

OK

Yes

354

400

MLH1

HCT116

p.S252*

c.755C > A

3:37056000

OK

Yes

0

30

MLH1

CCRF-CEM

p.?

c.790 + 1G > A

3:37056036

OK

Low coverage

3

6

MSH6

IGROV-1

p.F1088fs*2

c.3261delC

2:48030647

OK

Yes

65

650

MSH6

HCT-15

p.D1171fs*4

c.3511_3516 > T

2:48032121

OK

No (complex?)

551

0

MSH6

HCT-15

p.L290fs*1

c.868delC

2:48025990

OK

Yes

214

230

NF2

SN12C

p.?

c.115-1G > C

22:30032739

OK

Yes

0

599

NF2

ACHN

p.R57*

c.169C > T

22:30032794

OK

Yes

2

772

NF2

MDA-MB-231

p.E231*

c.691G > T

22:30057209

OK

Yes

1

817

NOTCH1

CCRF-CEM

p.R1595 > PRLPHNSSFHFLR

c.4783_4784ins36

9:139399362

OK

Yes

96

23

NOTCH1

MOLT-4

p.P2515fs*4

c.7544_7545delCT

9:139390649

OK

Yes

143

155

PTEN

PC3

p.R55fs*1

c.165_1212del1048

10:89685270

Deletion

No coverage

0

0

PTEN

786-O

p.Q149*

c.445C > T

10:89692961

OK

Yes

0

910

PTEN

CCRF-CEM

p.?

c.80_492del413

10:89653782

Deletion

No coverage

0

0

PTEN

MOLT-4

p.K267fs*9

c.800delA

10:89717775.

OK

Yes

34

1499

PTEN

BT-549

p.V275fs*1

c.823delG

10:89720672

OK

Yes

3

159

VHL

786-O

p.G104fs*55

c.311delG

3:10183842

OK

Yes

5

250