Table 1 List of pathways enriched for CNV-gene pairs through size-dependent analysis (10 kb flanks)

1

Antigen processing and presentation

KEGG

29

79

<0.001

2

Metabolism of xenobiotics by cytochrome P450

KEGG

22

60

<0.001

0.31(CEU|YRI),0.23(YRI|CHB),0.16(CEU|CHB),

3

Type I diabetes mellitus

KEGG

17

41

<0.001

4

Keratinocyte Differentiation

BIOCARTA

16

18

<0.001

0.53(CEU|YRI), 0.57(YRI|CHB)

5

Pentose and glucuronate interconversions

KEGG

9

14

<0.001

0.16(CEU|CHB), 0.28(YRI|CHB)

6

The role of FYVE-finger proteins in vesicle transport

BIOCARTA

6

7

<0.001

0.12(CEU|YRI), 0.37(CEU|CHB),0.47(YRI|CHB),

7

Phospholipase C d1 in phospholipid associated cell signaling

BIOCARTA

4

5

<0.001

0.53(CEU|YRI), 0.67(YRI|CHB),

8

Activation of cAMP-dependent protein kinase, PKA

BIOCARTA

2

3

<0.001

9

B Cell Receptor Complex

BIOCARTA

1

2

<0.001

10

Carbazole degradation

KEGG

1

1

<0.001

11

Fluorene degradation

KEGG

1

2

<0.001

12

Inositol metabolism

KEGG

1

2

<0.001

13

Peptidoglycan biosynthesis

KEGG

1

2

<0.001

14

Segmentation Clock

BIOCARTA

7

12

0.001