Table 2.

Human tRNA variants that introduce a G3:U70 base pair

MAF is minor allele frequency.

tRNA gene	Variant	MAF (%)a	Variant counta	MAF (%)b	Variant countb	tRNA scorec	Expression
							ARMd	CHIPe
Arg-ACG-1–3	C70U			0.002	2	68	+	+
Cys-GCA-2–3	C70U			0.02	29	82	+	+
Cys-GCA-1–1	C70U	0.02	1	0.07	86	84	+	−
Cys-GCA-17–1	C70U			0.002	2	71	+	+
Cys-GCA-12–1	C70U	0.02	1	0.01	16	72	+	+
Gly-CCC-2–1	G70U			0.05	64	75	+	+
Gly-GCC-2–4	A3G	0.08	4	0.05	63	81	+	−
Gly-GCC-2–5	A3G	0.02	1	0.005	6	81	+	−
Gly-GCC-2–1	A3G	0.02	1	0.02	20	81	+	+
Gly-GCC-2–3	A3G					81	+	+
Gly-GCC-1–5	A3G	1.2	61	1.3	1633	81	−	−
Gly-GCC-5–1	A3G	0.02	1	0.1	129	55	−	−
Gly-TCC-2–6	C70U	0.03	14	0.09	111	74	+	+
Ser-AGA-2–6	A3G			0.01	12	90	+	+

^a Data are from the 1000 Genomes Project (127, 128).

^b Data are from the TOPMED sequencing project (128, 129).

^c tRNA score was calculated using tRNA-Scan SE (128).

^d ARM indicates ARM-seq data suggesting expression (128, 130).

^e CHIP indicates CHIP-seq hits for at least 3 of 4 core transcription proteins (RPC155, POLR3G, BRF1, and BDP1) (46, 129, 131–133).