Table 2 Primary AML patient samples mutational status

1

SFB1

SNV

Hotspot

c.1998G > C

p.K666N

NM_012433.3

GoF

FLT3

INDEL

FLT3ITD

c.1794_1795insGTTTATAATGAGTACTTCTACGTTGATTTCAGAGAATATGAA

p.E598_Tyr599insVYNEYFYVDFREYE

NM_004119.2

GoF

FLT3

INDEL

FLT3ITD

c.1793_1794insAGTTTATAATGAGTACTTCTACGTTGATTTCAGAGAATATGA

p.E598_Tyr599insVYNEYFYVDFREYE

NM_004119.2

GoF

RUNX1

SNV

Truncating

c.422C > A

p.S141X

NM_001754.4

LoF

PHF6

SNV

Truncating

c.820C > T

p.R274X

NM_032458.3

LoF

2

CSDE1, NRAS

SNV

Hotspot

c.34G > A, c.*2042G > A

p.G12S, p.?

NM_002524.4

GoF

TET2, TET2-AS1

INDEL

Deleterious

c.2328delT

p.F776LfsX37

NM_001127208.2

LoF

NPM1

INDEL

Deleterious

c.863_864insCATG

p.W288CfsX12

NM_002520.6

LoF

KRAS

SNV

Hotspot

c.38G > A

p.G13D

NM_033360.3

GoF

3

PTPN11

SNV

Hotspot

c.215C > T

p.A72V

NM_002834.4

GoF

4

IDH1

SNV

Hotspot

c.394C > T

p.R132C

NM_005896.3

GoF

NPM1

INDEL

Deleterious

c.863_864insTCTG

p.W288CfsX12

NM_002520.6

LoF

5

PTPN11

SNV

Hotspot

c.226G > A

p.E76K

NM_002834.4

GoF

SETBP1

SNV

Hotspot

c.2602G > A

p.D868N

NM_015559.3

GoF

U2AF1, U2AF1L5

SNV

Hotspot

c.470A > G, c.251A > G

p.Q157R, p.Q84R

NM_001320651.1

GoF

U2AF1, U2AF1L5

SNV

Hotspot

c.101C > T, c.-8623C > T

p.S34F, p.?

NM_006758.2

GoF

6

WT1

SNV

Hotspot

c.1400G > C

p.R467P

NM_024426.5

LoF

PTPN11

SNV

Hotspot

c.1505C > T

p.S502L

NM_002834.4

GoF

7

CEBPA

INDEL

Hotspot

c.912_913insAAG

p.K304dup

NM_004364.4

LoF

CEBPA, CEBPA-DT

INDEL

Deleterious

c.151_152insCGCT

p.G53AfsX56

NM_004364.4

LoF

8

NRAS

SNV

Hotspot

c.183A > C

p.Q61H

NM_002524.4

GoF