Table 5 Top 20 pfsSNVs enriched in patients with specific cancer type (full list in Supplementary Table 5).

From: Distribution bias analysis of germline and somatic single-nucleotide variations that impact protein functional site and neighboring amino acids

PfsSNVs

Cancer Type

PfsSNVs Associated Sample

Total Sample

P-Value

[G]2PIK3CA-E545K-Phosphorylation

DOID:1612/breast cancer

63

973

9.62E-85

[L]NRAS-Q61R-Binding Site

DOID:4159/skin cancer

44

370

9.94E-51

[G]PIK3CA-E542K-Phosphorylation

DOID:1612/breast cancer

41

973

4.43E-48

[G]CDC27-A274D-Phosphorylation

DOID:1793/pancreatic cancer

44

210

1.59E-41

[G]PIK3CA-E545K-Phosphorylation

DOID:4362/cervical cancer

33

198

5.25E-36

[G]KRTAP4-L161V-Phosphorylation

DOID:1793/pancreatic cancer

39

210

7.70E-35

[L]NRAS-Q61K-Binding Site

DOID:4159/skin cancer

33

370

2.91E-34

[G]ANKRD36-T998S-Phosphorylation

DOID:1793/pancreatic cancer

37

210

2.94E-32

[G]EVPL-R336S-Phosphorylation

DOID:1793/pancreatic cancer

36

210

5.47E-31

[G]PIK3CA-E545K-Phosphorylation

DOID:11934/head and neck cancer

28

508

1.92E-29

[L]PTEN-R130G-Active Site

DOID:363/uterine cancer

28

305

4.59E-29

[G]NCOR1-Y20S-Phosphorylation

DOID:1793/pancreatic cancer

34

210

1.72E-28

[L]TP53-R273C-Binding Site

DOID:1319/brain cancer

31

287

8.97E-27

[L]NRAS-Q61R-Binding Site

DOID:1781/thyroid cancer

27

390

3.68E-26

[G]UPF3A-V70L-Phosphorylation

DOID:1793/pancreatic cancer

31

210

7.35E-25

[G]KRT8-R23C-Phosphorylation

DOID:1793/pancreatic cancer

29

210

1.61E-22

[L]MEF2A-Y105C-Phosphorylation

DOID:1793/pancreatic cancer

27

210

3.02E-20

[G]ZNF814-A337V-Phosphorylation

DOID:1793/pancreatic cancer

27

210

3.02E-20

[G]SALL1-S159G-Phosphorylation

DOID:1793/pancreatic cancer

26

210

3.88E-19

  1. [L]1: Loss of protein functional site.
  2. [G]2: Gain of protein functional site.