Table 2.

Twenty‐eight pivotal genes with nonsynonymous mutations in the present family with FNMTC

Gene	Cytoband	SNP annotation	ExAC ALL	ExAC EAS	gnomAD ALL	gnomAD EAS
AK2	1p35.1	rs113711467	0.0097	0.0043	0.001	0
ALDH9A1	1q24.1	rs141131078	0.0003	0.0037	—	0.0018
ANO7	2q37.3	rs57677160	0.2022	0.0145	0.2013	0.0185
C5orf49	5p15.31	rs76872483	—	0.0429	0.0035	0.0347
C9orf129	9q22.31	rs62572859	—	0.041	0.1587	0.0316
CAV2	7q31.2	rs8940	0.1531	0.0079	0.1522	0.0105
CEP162	6q14.2	rs201104500	0.0003	0.0034	0.0003	0.0043
CYS1	2p25.1	—	0.0013	0.0185	0.0005	0.0105
KANK1	9p24.3	rs28374506	0.0424	0.0087	0.0909	0.0086
KRTAP10‐12	21q22.3	rs61745911	0.0799	0.0266	0.1131	0.0309
KRTAP10‐9	21q22.3	rs62220926	0.0835	0.0083	0.1299	0.013
MUC4	3q29	—	—	0	—	0.0016
NUS1	6q22.1	rs28362519	0.0007	0.0095	0.0005	0.008
PCDHA8	5q31.3	—	0.0003	0.0032	0.0002	0.0037
PIK3CB	3q22.3	rs375961764	—	0.0001	—	0
PKD1L1	7p12.3	rs17131915	0.0058	0.0062	0.0169	0.0074
PTPRF	1p34.2	rs17849118	0.0003	0.0049	—	0.0012
RHBDD2	7q11.23	rs11547498	0.0004	0.0054	0.0002	0.0031
RHCE	1p36.11	rs143715642	0.0005	0.0074	0.0005	0.0086
SFTPC	8p21.3	rs75902455	0.0004	0.0051	0.0004	0.0062
SH3TC2	5q32	rs186864272	0.0001	0.0019	0.0001	0.0025
SORBS3	8p21.3	rs3758036	0.0035	0.0475	0.0022	0.0401
SPAG11B	8p23.1	—	0.0002	0.0002	—	0
SZT2	1p34.2	rs150966402	0.0014	0.0191	.	0.0234
TMPRSS13	11q23.3	—	0.0001	0.0015	—	0.0018
TTC22	1p32.3	rs12144325	0.1191	0.0163	0.1073	0.013
VLDLR	9p24.2	rs17848383	0.0002	0.0034	0.0001	0.0025
ZDHHC11	5p15.33	—	—	0.0245	—	0.0171

Abbreviations: EAS, East Asian population; ExAC, Exome Aggregation Consortium; FNMTC, familial non‐medullary thyroid cancer; gnomAD, Genome Aggregation Database; SNP, single‐nucleotide polymorphism.