Table 4. Genes with LoF variants in ROH hotspots—summary of predicted-gene product function and location using gene ontology terms and pathway analysis.

Pathway name	Pathway source	Total set size	No. of Identified genes	P-value	q-value	Description
Over-represented pathwaysa
Allograft rejection	Wikipathways	80	5 (6.2%)	2.21 × 10−5	0.00225	Immune response to allograft
Cytochrome P450—arranged by substrate type	Reactome	61	4 (6.6%)	0.00013	0.00662	Xenobiotics metabolism
Phase 1—functionalization of compounds	Reactome	79	4 (5.1%)	0.000353	0.00882	Xenobiotics metabolism
Olfactory signalling pathway	Reactome	427	8 (1.9%)	0.000401	0.00882	Response to external signal
Warfarin pathway, pharmacokinetics	PharmGKB	8	2 (25.0%)	0.000496	0.00882	Xenobiotics metabolism
Allograft rejection—Homo sapiens (human)	KEGG	37	3 (8.1%)	0.000519	0.00882	Immune response to allograft

GO term	Total set size	No. of identified genes	P-value	q-value	Description
Over-represented GO termsa
GO group: Cellular component
GO:0098805 whole membrane	1916	20 (1.0%)	0.000295	0.00534	Membrane location
GO:0098576 lumenal side of membrane	30	3 (10.3%)	0.000305	0.00534	Membrane location
GO:0098589 membrane region	1086	13 (1.2%)	0.00119	0.0138	Membrane location
GO:0005886 plasma membrane	4864	34 (0.7%)	0.00315	0.0276	Membrane location
GO:0071944 cell periphery	4967	34 (0.7%)	0.00453	0.0317	Membrane location
GO:0048475 coated membrane	88	3 (3.4%)	0.00756	0.0362	Membrane location
GO:0031300 intrinsic component of organelle membrane	271	5 (1.9%)	0.00781	0.0362	Membrane location
GO group: Molecular function
GO:0044459 plasma membrane part	2528	20 (0.8%)	0.00829	0.0362	Membrane location
GO:0005549 odorant binding	85	4 (4.7%)	0.000612	0.0134	Binding—external signal
GO:0003823 antigen binding	103	4 (4.0%)	0.00117	0.0134	Binding—external signal
GO:0004871 signal transducer activity	1663	16 (1.0%)	0.00296	0.0227	Response to internal/external signal
GO:0004872 receptor activity	1583	15 (1.0%)	0.00469	0.0269	Response to internal/external signal
GO group: Biological process
GO:0045321 leucocyte activation	701	10 (1.4%)	0.00123	0.0704	Response to internal/external signal
GO:0052192 movement in environment of other organism involved in symbiotic interaction	84	3 (3.6%)	0.00665	0.099	Response to external signal
GO:0042221 response to chemical	4132	29 (0.7%)	0.0073	0.099	Response to external signal
GO:0002252 immune effector process	765	9 (1.2%)	0.00762	0.099	Response to internal/external signal

^aAnnotations are ordered by q-values.