778019	355	CYP2D6	*43	\N	Uncertain function	\N	n/a	778018	{24647041,30366777}	Inadequate	\N	CYP2D6*43 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*43 demonstrated enzyme activity ranging from nondetectable to similar activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": 0.0, "European": 0.00058934913, "Oceanian": 0.002, "East Asian": 0.00038300423, "Near Eastern": 0.003, "Central/South Asian": 0.01, "Sub-Saharan African": 0.0100665875, "African American/Afro-Caribbean": 0.006397251}	f
2091259	259	CYP2D6	*163	\N	Unknown function	\N	n/a	2091258	{}	No Evidence	\N	CYP2D6*163 is assigned unknown function due to no literature describing function of this allele. CYP2D6*163 is defined by the two SNPs defining the normal function *2 allele and a SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
778408	342	DPYD	c.1519G>A	Normal function	Normal function	\N	1.0	778407	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013648505, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778438	340	DPYD	c.1905+1G>A (*2A)	No function	No function	\N	0.0	778437	{23328581}	Strong	This rsID, when combined with rs1801159, makes up DPYD*2B	5-fluorouracil (in vitro)	{"Latino": 0.00078298897, "European": 0.007917321, "East Asian": 0.0, "Central/South Asian": 0.005076194, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0031082802}	f
778420	342	DPYD	c.1679T>G (*13)	No function	No function	\N	0.0	778419	{23328581}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00055783015, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778677	311	G6PD	Honiara	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778676	{22293322,7726184}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
7096547	1	NAT2	*67	Slow	Decreased function	\N	\N	7096546	{29273096}	Moderate	\N	NAT2*67 is assigned decreased function based on moderate evidence. NAT2*67 is characterized by the core SNVs c.590G>A (p.R197Q), c.803G>A (p.R268K), and c.823T>A (p.L275M). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.823T>A (p.L275M). Five out of nine variant effect predictors tested by CPIC staff predict c.823T>A (p.L275M) impairs protein function, which is supported by published in silico analysis (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*67 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.823T>A and c.590G>A are uncertain.	\N	f
777947	355	CYP2D6	*6	\N	No function	\N	0.0	777946	{10022755,7894499,7951238,7868129}	Strong	\N	CYP2D6*6 is assigned no function based on strong evidence. CYP2D6*6 has been described in subjects demonstrating decreased metabolism of various CYP2D6 substrates (10022755, 7894499, 7951238, 7868129). CYP2D6*6 is defined by a single nucleotide deletion resulting in a frameshift and premature stop codon yielding a truncated and nonfunctional protein (7894499). Therefore, consensus among experts was no function with an activity value of 0 based on strong evidence.	{"Latino": 0.0051102643, "American": 0.0025018877, "European": 0.011197059, "Oceanian": 0.0, "East Asian": 0.00015815398, "Near Eastern": 0.00543274, "Central/South Asian": 0.00040183793, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0028887512}	f
777979	355	CYP2D6	*23	\N	Uncertain function	\N	n/a	777978	{24647041,30366777}	Inadequate	\N	CYP2D6*23 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*23 demonstrated modest decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse and it was not convincing the magnitude of decreased activity was clinically significant. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778095	355	CYP2D6	*88	\N	Uncertain function	\N	n/a	778094	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*88 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*88 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778400	342	DPYD	c.1371C>T	Normal function	Normal function	\N	1.0	778399	{23588312}	Limited	\N	5-fluorouracil (ex vivo)	{"Latino": 0.00071320933, "European": 0.00017700421, "East Asian": 0.0, "Central/South Asian": 0.00008935568, "Sub-Saharan African": 0.020694444, "African American/Afro-Caribbean": 0.015828025}	f
7096549	1	NAT2	*68	Slow	Decreased function	\N	\N	7096548	{18680467}	Moderate	\N	NAT2*68 is assigned decreased function based on moderate evidence. NAT2*68 is characterized by the core SNVs c.580C>G (p.L194V), c.803G>A (p.R268K), and c.857G>A (p.G286E). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.580C>G (p.L194V). Six out of nine variant effect predictors tested by CPIC staff predict that c.580C>G (p.L194V) impairs protein function. c.857G>A (p.G286E) defines NAT2*7 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Nine out of nine variant effect predictors tested by CPIC staff predict that c.857G>A (p.G286E) does not impair protein function. However, published in silico modeling indicates that c.857G>A (p.G286E) disrupts the size/shape of the protein's active site (18680467). Thus, NAT2*68 is assigned decreased function based on c.857G>A. Despite this, the combinatorial effects associated with c.580C>G and c.857G>A are uncertain	\N	f
778005	355	CYP2D6	*36	\N	No function	\N	0.0	778004	{7935325,18784265,9918137,16425111,24647041,30366777,16415111}	Moderate	\N	CYP2D6*36 is assigned no function based on moderate evidence in heterozygous subjects and in vitro studies. CYP2D6*36 has been described in subjects with CYP2D6 *1/*36 and CYP2D6 *2/*36 genotype demonstrating decreased metabolism and subjects with CYP2D6 *4/*36 demonstrating poor metabolism with debrisoquine and dextromethorphan substrates (9918137, 16415111). Multiple in vitro studies found CYP2D6*36 had nondetectable or markedly decreased enzyme activity compared to wildtype with various substrates (7935325, 18784265, 24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": 0.002, "American": 0.0, "European": 0.00017518068, "Oceanian": 0.0, "East Asian": 0.011395853, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.004, "African American/Afro-Caribbean": 0.005231697}	f
7096551	1	NAT2	*69	Slow	Decreased function	\N	\N	7096550	{19164093,29273096}	Moderate	\N	NAT2*69 is assigned decreased function based on moderate evidence. NAT2*TBD is characterized by the core SNVs c.341T>C (p.I114T) and c.589C>T (p.R197X). c.589C>T results in the amino acid change p.R197X, introducing a premature stop codon leading to the expression of a truncated protein product that is predicted to be nonfunctional (19164093, 29273096). Four out of four variant effect predictors tested by CPIC staff predict that c.589C>T (p.R197X) impairs function. c.341T>C (p.I114T) defines NAT2*5 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. In vitro studies also show that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*TBD would presumably be degraded in the same manner. Additionally, five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. NAT2*TBD is assigned decreased function based on c.341T>C. Despite this, the combinatorial effects associated with c.341T>C and c.589C>T are uncertain.	\N	f
778059	355	CYP2D6	*63	\N	Uncertain function	\N	n/a	778058	{24647041,30366777}	Inadequate	\N	CYP2D6*63 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*63 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00028595122, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778701	311	G6PD	Amsterdam	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778700	{22293322,12130518}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
3685609	150	RYR1	c.7060G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685608	{35849058}	\N	\N	PS4_Mod, PM1, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685851	150	RYR1	c.12413T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685850	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
778099	355	CYP2D6	*90	\N	Uncertain function	\N	n/a	778098	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*90 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*90 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777587	359	CYP2C19	*31	\N	Uncertain function	\N	\N	777586	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*31 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*31 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, voriconazole, and nebivolol substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019440125, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685821	150	RYR1	c.11947C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685820	{33767344}	\N	\N	PS2_PM6_Mod, PS4_Sup, PP3_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685841	150	RYR1	c.12310G>C	Likely Benign	Normal function	\N	n/a	3685840	{35849058}	\N	\N	BS2_Mod, BP4	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685943	150	RYR1	c.14558C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685942	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685505	150	RYR1	c.5033A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685504	{35849058}	\N	\N	BP4	{"Latino": 0.0000654, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779189	338	RYR1	c.6488G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779188	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod, BS2	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685579	150	RYR1	c.6742C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685578	{35849058}	\N	\N	PM1	{"Latino": 0.00006545, "American": null, "European": null, "East Asian": null, "Near Eastern": 0.0002884, "Central/South Asian": null, "Sub-Saharan African": null}	f
2091255	259	CYP2D6	*161	\N	No function	\N	0.0	2091254	{}	limited	\N	CYP2D6*161 is assigned no function based on limited evidence. CYP2D6*161 is defined by the two SNPs defining the normal function *2 allele and two SNP that are only found on this star allele of which one, 2591_2592insT causes a premature stop codon (E273X) that likely renders the allele nonfunctional.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00208, "African American/Afro-Caribbean": null}	f
778388	342	DPYD	c.1260T>A	Normal function	Normal function	\N	1.0	778387	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0005544641, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
3685811	150	RYR1	c.11708G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685810	{35849058}	\N	\N	PS4, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685663	150	RYR1	c.7355G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685662	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685791	150	RYR1	c.10891G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685790	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685833	150	RYR1	c.12115A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685832	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685855	150	RYR1	c.12533G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685854	{35849058}	\N	\N	PS4_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685861	150	RYR1	c.12700G>C	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685860	{35849058}	\N	\N	PS4_Mod, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685869	150	RYR1	c.12884C>T	Benign	Normal function	\N	n/a	3685868	{33767344}	\N	\N	BS1, BS2_Mod, BP2, BP4	{"Latino": 0.0006122, "American": null, "European": 0.0030186172, "East Asian": 0.0009812, "Near Eastern": 0.0002953, "Central/South Asian": null, "Sub-Saharan African": 0.00136}	f
3685875	150	RYR1	c.13673G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685874	{33767344}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": 0.00002941, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685885	150	RYR1	c.13918A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685884	{33767344}	\N	\N	PS4_Sup, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685889	150	RYR1	c.13990T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685888	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001481, "East Asian": null, "Near Eastern": 0.0005784, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685897	150	RYR1	c.14126C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685896	{33767344}	\N	\N	PM1_Sup, PP3_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": 0.0001928, "Near Eastern": 0.001442, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685901	150	RYR1	c.14186A>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685900	{35849058}	\N	\N	PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685909	150	RYR1	c.14210G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685908	{35849058}	\N	\N	PS4, PM1_Sup, PP1_St, PP3_Mod, BS2_Mod, PS3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779233	338	RYR1	c.14387A>G	Variant of uncertain significance	Uncertain function	\N	n/a	779232	{}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685925	150	RYR1	c.14471T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685924	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685961	150	RYR1	c.14782A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685960	{35849058}	\N	\N	PM1_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685971	150	RYR1	c.14818G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685970	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779740	294	CYP2D6	*41x2	\N	Decreased function	\N	0.5	778014	{11037799,15289790,17001295,17112815,19364831}	Limited	\N	CYP2D6*41x2 is assigned decreased function based on limited evidence. CYP2D6*41 is assigned decreased function based on decreased protein expression and enzyme activity (11037799, 15289790, 17112815, 19364831, 17001295). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would demonstrate greater protein expression and enzyme activity than that of the nonduplicated allele and be clinically similar to phenotypes comprising decreased function alleles.	{"Latino": 0.00008218229, "American": 0.0, "European": 0.00033715033, "Oceanian": 0.0, "East Asian": 0.00022746579, "Near Eastern": 0.004381261, "Central/South Asian": 0.00049214147, "Sub-Saharan African": 0.00042204256, "African American/Afro-Caribbean": 0.00059508317}	f
3685617	150	RYR1	c.7075C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685616	{35849058}	\N	\N	PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": 0.00006543, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002414}	f
2899153	148	CYP2B6	*44	\N	Uncertain function	\N	\N	2899152	{38596098}	Inadequate	\N	CYP2B6*44 (c.304G>A, p.A102T) – Uncertain function: CYP2B6*44 is assigned uncertain function due to inadequate evidence describing function. A single in vitro study reported decreased function for p.A102T using buproprion and efavirez as probes (38596098).	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685797	150	RYR1	c.11126C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685796	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685915	150	RYR1	c.14422_14423delinsAA	Variant of uncertain significance	Uncertain function	\N	n/a	3685914	{35849058}	\N	\N	PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779237	338	RYR1	c.14497C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779236	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
1932994	122	CYP2C9	*80	\N	\N	\N	\N	1932993	\N	\N	\N	\N	\N	f
1002694	331	SLCO1B1	*41	\N	No function	\N	\N	1002693	{39511784,34887219,27602404,39644095,40047317,22232210,35631530}	Strong	\N	SLCO1B1*41 is assigned no function based on strong evidence. SLCO1B1*41 is defined by c.481+1G>T which disrupts a canonical splice site. An individual genotyped SLCO1B1*31/*41 exhibited an elevated plasma concentration of coproporphyrin I, at a level comparable to that in SLCO1B1*15/*15 patients (39511784). Individuals compound heterozygous for *41 experienced statin-induced rhabdomyolysis (34887219, 39511784). SLCO1B1*41 was significantly associated with altered hexadecanedioate and SLCO1B1-associated oxylipins levels in individuals with *41 vs those without (27602404, 39644095). A large clinical study demonstrated that individuals with SLCO1B1*41 exhibited significantly increased bilirubin levels relative to those without, however there was no significant association with statin-induced myotoxicity (40047317). Additionally, SLCO1B1 loss-of-function has been implicated in the pathogenesis of Rotor syndrome and SLCO1B1*41 has been identified in affected families (22232210). The variant effect predictors CADD and PhD-SNPg predict that c.481+1G>T impairs protein function, which is supported by a published in silico analysis (35631530). Expression of a truncated protein due to aberrant splicing is also supported by SpliceAI predictions.	{"American": null, "European": 0.00010, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1406322	341	CYP2C9	*75	Unknown function	Unknown function	\N	n/a	1406321	{}	No evidence	\N	CYP2C9*75 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777555	359	CYP2C19	*12	\N	Uncertain function	\N	\N	777554	{12464799}	Inadequate	\N	CYP2C19*12 is assigned uncertain function due to inadequate evidence. In one in vitro study CYP2C19*12 was poorly expressed and enzyme activity could not be assessed with a mephenytoin substrate (12464799). CYP2C19*12 is defined by the conversion of the stop codon to cysteine, and it is unclear if this protein is unstable in vivo. Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.000108813925, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0011203007}	f
778033	355	CYP2D6	*50	\N	Decreased function	\N	0.5	778032	{18784265,24647041,30366777}	Limited	\N	CYP2D6*50 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2D6*50 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00039791822, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
778139	354	CYP2D6	*110	\N	Uncertain function	\N	n/a	778138	{31368850}	Inadequate	\N	CYP2D6*110 is assigned uncertain function. CYP2D6*110 is defined by a SNP which in silico studies predict to be a deleterious amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778155	354	CYP2D6	*118	\N	Unknown function	\N	n/a	778154	{}	No Evidence	\N	CYP2D6*118 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778845	311	G6PD	Bangkok	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778844	{22293322,21302115}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779348	337	SLCO1B1	*36	\N	Uncertain function	\N	\N	779347	{22147369}	Inadequate	\N	SLCO1B1*35 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777945	355	CYP2D6	*5	\N	No function	\N	0.0	777944	{1673290,11266079,31544239}	Definitve	\N	CYP2D6*5 is assigned no function based on definitive evidence. CYP2D6*5 has been studied for more than 20 years and its association with impaired function is well-established (1673290, 31544239). CYP2D6*5 is defined by a deletion of the CYP2D6 gene. CYP2D6*5 was first identified in a homozygous subject demonstrating decreased sparteine metabolism (1673290). An additional study found liver samples of seven subjects heterozygous for CYP2D6*5 demonstrated decreased intrinsic clearance compared to wildtype with a bufuralol substrate (11266079). Therefore, consensus among experts was no function with an activity value of 0 based on definitive evidence.	{"Latino": 0.02915789, "American": 0.01643337, "European": 0.029482473, "Oceanian": 0.03483003, "East Asian": 0.0482394, "Near Eastern": 0.018235605, "Central/South Asian": 0.041759778, "Sub-Saharan African": 0.06219285, "African American/Afro-Caribbean": 0.054194603}	f
779294	338	SLCO1B1	*9	Decreased function	No function	\N	\N	779293	{11477075,12490595,16697742,16513443,33658230,40047317,39644095}	Moderate	\N	SLCO1B1*9 is assigned no function based on moderate evidence. SLCO1B1*9 is defined by c.1463G>C (p.G488A). In vitro studies demonstrate that protein encoded by SLCO1B1*9 exhibits decreased uptake of estrone sulfate, estradiol 17beta-d-glucuronide, rifampin, rosuvastatin, methotrexate, and atrasentan (11477075, 12490595, 16697742, 16513443, 40047317). A large clinical study demonstrated that individuals with the c.1463G>C variant exhibited significantly increased bilirubin levels relative to those without. Additionally, c.1463G>C was significantly associated with statin-induced myotoxicity (40047317) and has been linked to altered oxylipin levels (39644095). Since c.1463G>A is in strong linkage with c.388A>G (p.N130D) in African populations, the association study (40047317) likely included subjects with either the SLCO1B1*9 or *31 allele Nine out of ten variant effect predictors tested by CPIC staff predict that the SLCO1B1*9-defining variant, c.1463G>C (p.G488A), impairs protein function.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002702	331	SLCO1B1	*45	\N	No function	\N	\N	1002701	{38674010,32082363,36964102,39071607,25546334,40199401,37674011}	Moderate	\N	SLCO1B1*45 is assigned no function based on moderate evidence. SLCO1B1*45 is defined by c.1738C>T (p.R580X). This variant generates a premature stop codon resulting in the expression of a truncated protein. SLCO1B1*45 was significantly associated with increased bilirubin levels and an individual carrying SLCO1B1*45 experienced statin-associated muscle symptoms (38674010). Additionally, SLCO1B1 loss-of-function has been implicated in the pathogenesis of Rotor syndrome and SLCO1B1*45 has been identified in a homozygous state in probands (32082363, 36964102, 39071607, 25546334). Cryo-EM structural studies of SLCO1B1 protein have consistently identified p.R580 as a critical amino acid involved in substrate recognition and binding (40199401, 37674011). The SLCO1B1 protein contains 12 transmembrane domains; a truncation at p.R580 eliminates the final two transmembrane domains which is highly disruptive rendering the protein non-functional, as the full transmembrane architecture is required for substrate transport. Four out of four VEPs capable of making predictions for nonsense variants predict that c.1738C>T impairs protein function.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685573	150	RYR1	c.6671G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685572	{33767344}	\N	\N	PM1	{"Latino": 0.00006547, "American": null, "European": 0.0000735, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.000207, "Sub-Saharan African": null}	f
778023	355	CYP2D6	*45	\N	Normal function	\N	1.0	778022	{15768052,24647041,30366777}	Limited	\N	CYP2D6*45 is assigned normal function based on limited evidence. Subjects with CYP2D6 *5/*45 genotype demonstrated similar dextromethorphan metabolism compared to wildtype subjects (15768052). In vitro studies found CYP2D6*45 demonstrated similar activity compared to wildtype with dextromethorphan and bufuralol substrates (15768052, 24647041). Although one in vitro study found CYP2D6*45 demonstrated decreased clearance compared to wildtype with a primaquine substrate (30366777) the experts did not find this result convincing as CYP2D6*45 demonstrated similar activity compared to wildtype towards a majority of substrates as well as in vivo. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": null, "American": 0.003, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.038135953, "African American/Afro-Caribbean": 0.05011446}	f
778053	354	CYP2D6	*60	\N	No function	\N	0.0	778052	{19364831}	Limited	\N	CYP2D6*60 is assigned no function based on limited evidence. CYP2D6*60 is defined by an early stop codon suggesting a complete functional protein is not formed (19364831). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0014483429, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685583	150	RYR1	c.6757C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685582	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
777425	359	CYP2B6	*2	Normal function	Normal function	\N	\N	777424	{12642465,17559344,21896912,22471906,23254426,23399569,26655325,30201214}	Strong	\N	CYP2B6*2 (c.64C>T, p.R22C) - Normal function: CYP2B6*2 is assigned normal function based on in vivo (heterozygous patients) and in vitro studies. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that CYP2B6*2 heterozygotes had similar efavirenz plasma concentrations compared to the *1 reference (21896912, 22471906, 23254426, 23399569). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months, similarly found that CYP2B6*2 did not impact long term efavirenz exposure (26655325). Additionally, one in vitro study using human liver microsomes (17559344) and two in vitro studies using cDNA expression systems (12642465, 30201214) found that CYP2B6*2 had similar enzyme activity compared to the *1 reference. Therefore, consensus among experts was normal function based on strong evidence.	{"Latino": 0.044, "European": 0.04917699, "Oceanian": 0.0, "East Asian": 0.045823272, "Near Eastern": 0.039, "Central/South Asian": 0.041, "Sub-Saharan African": 0.031, "African American/Afro-Caribbean": 0.031030929}	f
777435	359	CYP2B6	*7	Decreased function	Decreased function	\N	\N	777434	{12642465,14551287,18171905,21659470,24260284,30201214,31324697,32238417,35538637,3553863}	Limited	\N	CYP2B6*7 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R and c.1459C>T, p.R487C) - Decreased function: CYB2B6*7 is assigned decreased function. CYP2B6*7 contains the variants which define CYP2B6*6 in addition to a third SNP (c.1459C>T). Since this is a rare variant, there are no data from human liver microsomes or clinical trials regarding its function. Data from several in vitro expression systems are inconclusive: some studies show decreased activity (31324697, 32238417, 3553863) while others exhibit increased activity (12642465, 21659470, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": 0.008, "European": 0.024807692, "Oceanian": 0.01, "East Asian": 0.0, "Near Eastern": 0.024, "Central/South Asian": null, "Sub-Saharan African": 0.016, "African American/Afro-Caribbean": 0.0}	f
777439	359	CYP2B6	*9	Decreased function	Decreased function	\N	\N	777438	{11243870,14551287,15622315,18171905,21659470,22927450,23080225,24260284,30085944,30201214,3090656,32238417,35538637,30906561}	Strong	\N	CYP2B6*9 (c.516G>T, p.Q172H/splice defect) - Decreased function: CYP2B6*9 is assigned decreased function. When c.516G>T occurs alone, it defines CYP2B6*9. The c.516G>T variant causes aberrant splicing (14551287, 18171905, 24260284) and is in high linkage disequilibrium with c.785A>G, which is part of the CYP2B6*6 haplotype. c.516G>T is also present in several other haplotypes (e.g., CYP2B6*7, *13, *19, *20, *26, *34, *36, *37 and *38). These haplotypes make it difficult to ascertain the presence of *9 and its clinical function. Although several studies have reported a significant association between c.516G>T and efavirenz exposure (over 3-fold increase) in patient plasma and/or hair samples (15622315, 22927450, 23080225), these associations were erroneously attributed to CYP2B6*9 rather than *6. Several in vitro studies using cDNA expression systems show that CYP2B6*9 decreases activity towards efavirenz, bupropion, methadone, ketamine, and nicotine (21659470, 30085944, 30906561, 32238417, 35538637), while others have shown no or increased activity (11243870, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. At present, functional information is informed by the fact that alleles with c.516G>T (e.g., CYP2B6*6) have been associated with decreased function (see description for CYP2B6*6 allele). Therefore, consensus among experts was decreased function based on strong evidence.	{"Latino": 0.07266471, "European": 0.0147, "Oceanian": 0.01, "East Asian": 0.034411334, "Near Eastern": 0.102, "Central/South Asian": 0.059, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.046484537}	f
778071	355	CYP2D6	*71	\N	Uncertain function	\N	n/a	778070	{24647041,30366777}	Inadequate	\N	CYP2D6*71 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*71 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": 0.042666666, "East Asian": 0.0020697587, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778963	311	G6PD	Abeno	II/Deficient	II/Deficient	\N	\N	778962	{22293322,22963789,1945893,11271380}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778831	311	G6PD	Durham	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778830	{22293322,9290617}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
3685491	150	RYR1	c.4178A>G	Benign	Normal function	\N	n/a	3685490	{35849058}	\N	\N	BA1	{"Latino": 0.001703, "American": null, "European": 0.0043866965, "East Asian": null, "Near Eastern": 0.0002882, "Central/South Asian": null, "Sub-Saharan African": 0.001086}	f
779417	337	TPMT	*11	\N	No function	\N	\N	779416	{18708949,12835738,16220112}	\N	\N	\N	{"Latino": null, "European": 0.00024325753, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685403	150	RYR1	c.1201C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685402	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685735	150	RYR1	c.8654C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685734	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
778141	354	CYP2D6	*111	\N	Uncertain function	\N	n/a	778140	{31368850}	Inadequate	\N	CYP2D6*111 is assigned uncertain function. CYP2D6*111 is defined by a SNP which in silico studies predict to be a deleterious amino acid change (31368850). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.004, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.008, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778195	355	CYP2D6	*138	\N	Uncertain function	\N	n/a	778194	{31536170}	Inadequate	\N	CYP2D6*138 is assigned uncertain function due to inadequate evidence. CYP2D6*138 is defined by a splice defect known to decrease activity and an amino acid substitution which an in vitro study found to increase activity compared to *1 when expressed on its own (31536170). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778394	342	DPYD	c.1314T>G	Decreased function	Decreased function	\N	0.5	778393	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00068351155, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778973	311	G6PD	Kawasaki	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778972	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
777471	359	CYP2B6	*26	Decreased function	Decreased function	\N	\N	777470	{17918089,30085944,30201214,32238417,34100292,18171905,24260284}	Limited	\N	CYP2B6*26 (c.499C>G, p.P167A; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*26 is assigned decreased function. CYP2B6*26 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). One study evaluating efavirenz plasma concentrations among patients with HIV found CYP2B6*26 was associated with elevated efavirenz concentrations compared to the *1 reference and has similar function to CYP2B6*6. This was demonstrated by similar efavirenz concentrations among CYP2B6 *6/*26 subjects CYP2B6 *6/*6 subjects (17918089). Although one in vitro study using a cDNA expression system found that CYP2B6*26 demonstrated increased enzyme activity compared to the *1 reference (30201214), the experts did not find these results convincing as it has previously been shown that in vitro expression systems may not adequately reflect CYP2B6*6 expression and function, and therefore also not be a suitable system to assess CYP2B6*26. As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777479	359	CYP2B6	*30	No function	No function	\N	\N	777478	{23164804,28181240}	Limited	\N	CYP2B6*30 (CYP2B7-CYP2B6 hybrid gene) – No function: CYP2B6*30 is assigned no function. This allele has a hybrid gene consisting of CYP2B6 (exons 1-4) and CYP2B7 (exons 5-9) harboring 15 amino acid changes compared to the protein encoded by the CYP2B6*1 reference. Among those is a premature stop codon (p.R378X) which is also found in CYP2B6*28 (23164804). This allele has been found in a duplication structure; it remains uncertain, however, whether the other gene in the duplication is a *1, *4 or *6 (or potentially other). Although CYP2B6*30 has no function, the function of this duplication allele depends on the nature of the other gene copy. One in vitro study found that primary human hepatocytes of subjects with a CYP2B6*30 had significantly lower mRNA and protein expression and enzyme activity compared to the *1 reference (28181240). The same study also showed that the AUC for 4-OH-cyclophosphamide was significantly lower for patients with *1/*30 compared to *1/*1 (28181240). In this study, the presence of a CYP2B6*30 was inferred by subjects having three gene copies and sequence analysis of the *30; however, the study did not provide any information regarding the nature of the second gene copy of the duplication. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778691	311	G6PD	Kozukata	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778690	{22293322,9410474}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778671	311	G6PD	Sinnai	III/Deficient	III/Deficient	\N	\N	778670	{22293322,10627140}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778127	354	CYP2D6	*104	\N	Unknown function	\N	n/a	778126	{}	No Evidence	\N	CYP2D6*104 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0033, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779007	311	G6PD	Amiens	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779006	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
777791	341	CYP2C9	*62	No function	Uncertain function	\N	n/a	777790	{32531309}	Inadequate evidence	\N	CYP2C9*62 is assigned uncertain funciton due to inadequate evidence. One in vitro study found the protein expression of CYP2C9*62 was significantly lower than that of the wild-type, and its metabolic activity was also significantly decreased after the addition of three typical CYP2C9 probe drugs (tolbutaminde, losartan, and diclofenac), suggesting that the new mutant can dramatically affect the metabolism of CYP2C9 drugs in vitro (32531309). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.00010, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777799	341	CYP2C9	*66	Uncertain function	Uncertain function	\N	n/a	777798	{33536773}	Inadequate evidence	\N	CYP2C9*66 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variant present in CYP2C9*66 is predicted to be tolerated in SIFT and benign in Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00080, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899145	148	CYP2B6	*40	Decreased function	Decreased function	\N	\N	2899144	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*40 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1133G>A, p.R378Q) – Decreased function: CYP2B6*40 is assigned decreased function. CYP2B6*40 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.R378Q using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778083	354	CYP2D6	*82	\N	Unknown function	\N	n/a	778082	{}	No Evidence	\N	CYP2D6*82 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": 0.021, "American": 0.009419355, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.00089590444, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778093	355	CYP2D6	*87	\N	Uncertain function	\N	n/a	778092	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*87 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*87 demonstrated enzyme activity ranging from increased to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685423	150	RYR1	c.1475G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685422	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": 0.00008823, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0001208}	f
3685985	150	RYR1	c.14364+1G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685984	{35849058}	\N	\N	PS4_Sup, PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
777745	359	CYP2C9	*39	No function	No function	\N	0.0	777744	{24077631,24118918,25142737,25144335,25476996,25832633,25951663,25884291,27163851,23844998}	Limited	\N	CYP2C9*39 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2C9*39 demonstrated decreased clearance with numerous substrates compared to wildtype (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 27163851, 23844998). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481211	15	NAT2	*21	\N	Uncertain function	\N	\N	6481210	{19909761}	Inadequate	\N	NAT2*21 is assigned uncertain function based on inadequate evidence. NAT2*21 is characterized by the core SNVs c.458C>T (p.T153I) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly shown normal function in vivo and in vitro. Published in silico modeling of c.458C>T (p.T153I) predicts that this variant impairs protein function based on the exposure of hydrophobic residues that may facilitate protein aggregation and/or targeted protein degradation (19909761). However, eight out of nine variant effect predictors tested by CPIC staff predict that c.458C>T (p.T153I) is neutral for NAT2 protein function and structure-based tools predict that this variant may increase protein stability.	\N	f
777543	359	CYP2C19	*6	\N	No function	\N	\N	777542	{9732415,21325430,25001882}	Limited	\N	CYP2C19*6 is assigned no function based on limited evidence in a heterozygous subject and in vitro studies. CYP2C19*6 was first described in a subject demonstrating decreased mephenytoin metabolism based on urine metabolite concentrations. This correlated with an in vitro study which found CYP2C19*6 had nondetectable enzyme activity with mephenytoin and tolbutamide substrates (9732415). Two additional in vitro studies using different cell systems found CYP2C19*6 had nondetectable enzyme activity with mephenytoin, omeprazole, and clopidogrel substrates (21325430, 25001882). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.00030023712, "Oceanian": null, "East Asian": 0.0005600443, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777551	359	CYP2C19	*10	\N	Decreased function	\N	\N	777550	{12464799,19661214,21325430,25001882,24945780,21692664}	Limited	\N	CYP2C19*10 is assigned decreased function based on limited evidence.Six in vitro studies using different cell systems found CYP2C19*10 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (12464799, 19661214, 21325430, 25001882, 24945780). Another study found CYP2C19*10 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664). Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": 0.0012398496, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00010471204, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0032672414}	f
778069	355	CYP2D6	*70	\N	Uncertain function	\N	n/a	778068	{24647041,30366777}	Inadequate	\N	CYP2D6*70 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*70 demonstrated decreased enzyme activity compared to wildtype with various substrates (24647041, 30366777) but consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
6481289	10	NAT2	*17	\N	\N	\N	\N	6481288	\N	\N	\N	\N	\N	f
778009	355	CYP2D6	*38	\N	No function	\N	0.0	778008	{9918137}	Limited	\N	CYP2D6*38 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*38 was identified in a heterozygous subject with CYP2D6 *4/*38 genotype demonstrating poor metabolism with a debrisoquine substrate (9918137). CYP2D6*38 is defined by a four base pair deletion resulting in a frameshift. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778957	311	G6PD	Anadia	II/Deficient	II/Deficient	\N	\N	778956	{22293322,1945893,18056001}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778961	311	G6PD	Clinic	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778960	{22293322,7825590}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778881	311	G6PD	Kalyan-Kerala, Jamnaga, Rohini	III/Deficient	III/Deficient	\N	\N	778880	{22293322,1303182,15996881}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.00004499883, "East Asian": 0.0, "Central/South Asian": 0.011377339, "African American/Afro-Caribbean": 0.0}	f
778697	311	G6PD	Metaponto	III/Deficient	III/Deficient	\N	\N	778696	{22293322,2253938}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778815	311	G6PD	Minnesota, Marion, Gastonia, LeJeune	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778814	{22293322,1999409,1805484}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.00001025599, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778207	261	CYP2D6	*144	\N	No function	\N	0.0	778206	{33998274}	Limited	\N	CYP2D6*144 is assigned no function based on limited evidence. CYP2D6*144 is defined by a splice accepter variant predicting abberant splicing. A subject sequenced as CYP2D6*143/*144 had a risperidone/9-hydroxy-risperidone ratio that was higher (indicating lower activity) compared to that found in subjects with two no function alleles. Two subjects genotyped as *1/*144 and *2/*144 had ratios comparable to that of subjects with an AS of 1 (33998274). Therefore, consensus among experts was no function.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.001, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778362	346	DPYD	c.868A>G	Decreased function	Decreased function	\N	0.5	778361	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00033666822, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.002017857, "African American/Afro-Caribbean": 0.0}	f
778885	311	G6PD	Manhattan	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778884	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778975	311	G6PD	Munich	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778974	{22293322,17637841}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": 0.000010226099, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
3685447	150	RYR1	c.1834G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685446	{35849058}	\N	\N	PS4_Sup, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685495	150	RYR1	c.4711A>G	Likely Benign	Normal function	\N	n/a	3685494	{33767344}	\N	\N	BS1	{"Latino": 0.002684, "American": null, "European": 0.001618, "East Asian": null, "Near Eastern": 0.001441, "Central/South Asian": 0.0008278, "Sub-Saharan African": 0.00009656}	f
6355280	18	CFTR	G1249R(G>A)	\N	ivacaftor responsive	\N	\N	6355279	{}	\N	\N	\N	\N	f
6355282	18	CFTR	G1249R(G>C)	\N	ivacaftor responsive	\N	\N	6355281	{}	\N	\N	\N	\N	f
6355288	18	CFTR	H1375P	\N	ivacaftor responsive	\N	\N	6355287	{}	\N	\N	\N	\N	f
6355286	18	CFTR	H939R	\N	ivacaftor responsive	\N	\N	6355285	{}	\N	\N	\N	\N	f
6355296	18	CFTR	I1027T	\N	ivacaftor responsive	\N	\N	6355295	{}	\N	\N	\N	\N	f
6355298	18	CFTR	I1139V	\N	ivacaftor responsive	\N	\N	6355297	{}	\N	\N	\N	\N	f
6355290	18	CFTR	I148T	\N	ivacaftor responsive	\N	\N	6355289	{}	\N	\N	\N	\N	f
6355292	18	CFTR	I175V	\N	ivacaftor responsive	\N	\N	6355291	{}	\N	\N	\N	\N	f
6355294	18	CFTR	I807M	\N	ivacaftor responsive	\N	\N	6355293	{}	\N	\N	\N	\N	f
6355304	18	CFTR	L320V	\N	ivacaftor responsive	\N	\N	6355303	{}	\N	\N	\N	\N	f
6355306	18	CFTR	L967S	\N	ivacaftor responsive	\N	\N	6355305	{}	\N	\N	\N	\N	f
6355404	18	CFTR	V1293G	\N	ivacaftor responsive	\N	\N	6355403	{}	\N	\N	\N	\N	f
6355406	18	CFTR	W1282R	\N	ivacaftor responsive	\N	\N	6355405	{}	\N	\N	\N	\N	f
6355408	18	CFTR	Y1014C	\N	ivacaftor responsive	\N	\N	6355407	{}	\N	\N	\N	\N	f
6355410	18	CFTR	Y1032C	\N	ivacaftor responsive	\N	\N	6355409	{}	\N	\N	\N	\N	f
778085	354	CYP2D6	*83	\N	Uncertain function	\N	n/a	778084	{22111604}	Inadequate	\N	CYP2D6*83 is assigned uncertain function due to inadequate evidence. CYP2D6*83 is a rare hybrid allele associated with a CYP2D6*1 gene duplication (22111604). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6355368	18	CFTR	R1162L	\N	ivacaftor responsive	\N	\N	6355367	{}	\N	\N	\N	\N	f
6355370	18	CFTR	R1283M	\N	ivacaftor responsive	\N	\N	6355369	{}	\N	\N	\N	\N	f
6355356	18	CFTR	R553Q	\N	ivacaftor responsive	\N	\N	6355355	{}	\N	\N	\N	\N	f
6355358	18	CFTR	R668C	\N	ivacaftor responsive	\N	\N	6355357	{}	\N	\N	\N	\N	f
6355360	18	CFTR	R792G	\N	ivacaftor responsive	\N	\N	6355359	{}	\N	\N	\N	\N	f
6355362	18	CFTR	R933G	\N	ivacaftor responsive	\N	\N	6355361	{}	\N	\N	\N	\N	f
6355386	18	CFTR	S1159F	\N	ivacaftor responsive	\N	\N	6355385	{}	\N	\N	\N	\N	f
6355388	18	CFTR	S1159P	\N	ivacaftor responsive	\N	\N	6355387	{}	\N	\N	\N	\N	f
6355378	18	CFTR	S589N	\N	ivacaftor responsive	\N	\N	6355377	{}	\N	\N	\N	\N	f
6355380	18	CFTR	S737F	\N	ivacaftor responsive	\N	\N	6355379	{}	\N	\N	\N	\N	f
778159	355	CYP2D6	*120	\N	No function	\N	0.0	778158	{}	Limited	\N	CYP2D6*120 is assigned no function based on limited evidence. CYP2D6*120 is defined by an early stop codon yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685727	150	RYR1	c.8518C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685726	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": 0.0001936, "Near Eastern": null, "Central/South Asian": 0.0002082, "Sub-Saharan African": null}	f
3318600	118	CYP4F2	*15	\N	\N	\N	\N	3318599	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779023	311	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	II/Deficient	II/Deficient	\N	\N	779022	{22293322,8935319,1953767}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0070355837, "Central/South Asian": 0.000052762094, "African American/Afro-Caribbean": 0.0}	f
777953	355	CYP2D6	*9	\N	Decreased function	\N	0.25	777952	{1844820,8101460,11266079,24647041,30366777,32599653,33932135,33792048,33967790,30312494}	Moderate	\N	CYP2D6*9 is assigned decreased function based on moderate evidence. CYP2D6*9 was first identified in a liver sample with decreased protein expression and enzyme activity (1844820). Subjects with CYP2D6*9 demonstrated decreased debrisoquine metabolism but greater metabolism compared to subjects with no function alleles based on urine metabolites, indicating there is not a complete loss of enzyme function (8101460). Similarly, liver microsomes of two subjects with CYP2D6*4/*9 and CYP2D6 *1/*9 genotype demonstrated decreased intrinsic clearance compared to wildtype with a bufuralol substrate (11266079). Two in vitro studies found CYP2D6*9 had a modest decrease in intrinsic clearance compared to wildtype (24647041, 30366777). Although one in vitro experiment found CYP2D6*9 had similar activity compared to wildtype with various substrates, the result was not convincing as decreased protein expression in vivo likely contributes to decreased enzyme activity observed in subjects carrying the CYP2D6*9 allele (1844820). Pharmacogenomic clinical studies found the measured activity values for several substrates is reduced (0.34 (PMID 30312494), 0.18 (PMID 33792048), 0.28 (PMID 33792048), 0.22 (PMID 32599653); 0.46 PMID 33932135) and a lower activity value of 0.25 is warranted for most substrates. Therefore, consensus among experts was decreased function with an activity value of 0.25 based on moderate evidence.	{"Latino": 0.015500509, "American": 0.007059503, "European": 0.02754178, "Oceanian": 0.0, "East Asian": 0.0017375742, "Near Eastern": 0.0038028897, "Central/South Asian": 0.0018789063, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0043313783}	f
778241	199	CYP4F2	*2	\N	\N	\N	\N	778240	\N	\N	\N	\N	{"Latino": 0.1669, "American": null, "European": 0.15959753, "East Asian": 0.084, "Near Eastern": 0.2107, "Central/South Asian": 0.1694, "Sub-Saharan African": 0.2329, "African American/Afro-Caribbean": null}	f
3685917	150	RYR1	c.14424C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685916	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
1002692	331	SLCO1B1	*40	\N	Uncertain function	\N	\N	1002691	{11477075,21245207,32961594}	No evidence	\N	SLCO1B1*40 contains the rs4149056C>T variant that decreases function (also present in *5) and the rs34671512A>C variant that may increase function (present in *19 and *20). Based on evidence supporting the function of rs4149056C>T (11477075, 32961594, 21245207), SLCO1B1*40 is assigned uncertain function due to no evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002698	331	SLCO1B1	*43	\N	Unknown function	\N	\N	1002697	{}	No evidence	\N	SLCO1B1*43 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1357092	320	SLCO1B1	*48	\N	No function	\N	\N	1357091	{22232210}	Limited	\N	SLCO1B1*48 is assigned no function due to evidence supporting a full gene deletion (22232210). Therefore, consensus among experts was no function due to limited evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2899147	148	CYP2B6	*41	Decreased function	Decreased function	\N	\N	2899146	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*41 (c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R; c.1138T>C, p.Y380H) – Decreased function: CYP2B6*41 is assigned decreased function. CYP2B6*41 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.Y380H using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779505	337	UGT1A1	*80+*37	\N	Decreased function	\N	\N	779504	{21309756,19414484,22085899,19419973}	\N	UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. However, the function of the *80 allele alone, in the absence of *28 or *37, is uncertain. If a patient is only tested for *80, decreased function may be inferred.	\N	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5409120	28	CYP2D6	*176	\N	\N	\N	\N	5409119	\N	\N	\N	\N	\N	f
777265	359	CACNA1S	c.520C>T	Uncertain function	Malignant Hyperthermia associated	\N	\N	777264	{19825159,28259615,22547813}	\N	\N	19825159: positive in vitro contracture test (biopsied muscle strips) (IVCT); 28259615: positive IVCT; 22547813: R174W mutation does not alter the voltage dependence of EC coupling, indicating that this mutation does not shift the equilibrium of RyR1 toward the activated state. R174W mutation alters the resting conformation of CACNA1S such that it no longer suppresses resting calcium leak via RYR1 and R174W mutation also serves to amplify this resting leak. R174W mutation disrupts the ability of CACNA1S to repress resting calcium leak from SR via RYR1 leading t elevated resting myoplasmic calcium and increased sensitivity to MH triggers	{"Latino": 0.00005783, "European": 0.000014776972, "East Asian": 0.0001087, "Near Eastern": 0.0, "Central/South Asian": 0.00003267}	f
777737	359	CYP2C9	*35	No function	No function	\N	0.0	777736	{23752738,24322786,2145143}	Limited	\N	CYP2C9*35 is assigned no function based on limited evidence in one heterozygous subject and in vitro studies. CYP2C9*35 was first described in a patient requiring a very low weekly warfarin dose of 2.25mg (2145143). No variant was observed in VKORC1 or CYP4F2 in this patient and a subsequent in silico study showed a decreased interaction with reductase resulting in impaired enzyme activity. In vitro studies similarly found CYP2C9*35 demonstrated no enzyme activity with warfarin, tolbutamide, and diclofenac substrates (23752738, 24322786). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777455	359	CYP2B6	*18	No function	No function	\N	\N	777454	{16272958,16495778,18281305,20517174,21746968,23080225,23344581,25878720,25897175,26655325,30085944,30201214,32238417,34115651,35538637}	Strong	\N	CYP2B6*18 (c. 983T>C, p.I328T) – No function: CYP2B6*18 is assigned no function (note that the formerly assigned CYP2B6*16 allele is now a suballele of CYP2B6*18). Several clinical studies indicate that CYP2B6*18 is strongly associated with higher plasma efavirenz exposure in patients with HIV (18281305, 23080225, 26655325). Studies evaluating efavirenz content in hair samples among patients with HIV taking efavirenz for more than three months found that patients with the CYP2B6*18 allele had nearly double efavirenz exposure compared to the *1 reference (26655325, 34115651). Another study evaluating plasma efavirenz concentrations in patients with HIV found three-fold higher efavirenz concentrations in patients carrying CYP2B6*18 compared to the *1 reference (16495778). Furthermore, CYP2B6*18 is associated with significantly higher exposure of nevirapine in plasma (18281305, 25878720) and hair (34115651) and lower exposure of hydroxybupropion after bupropion administration (23344581). Lower clearance of methadone compared to the *1 reference was found in a CYP2B6*18 carrier (35538637). Several in vitro studies found that CYP2B6*18 exhibited undetectable (or markedly decreased) protein expression and/or activity towards different probe substrates including efavirenz, bupropion, ketamine, and methadone, in several cDNA expression systems (16272958, 16495778, 20517174, 21746968, 25897175, 30085944, 30201214, 32238417, 35538637). Therefore, consensus among experts was no function based on strong evidence.	{"Latino": 0.014610389, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.05768421, "African American/Afro-Caribbean": 0.03296694}	f
777263	221	CACNA1S	Reference	\N	Normal function	\N	\N	777262	{}	\N	\N	\N	\N	f
2899143	148	CYP2B6	*39	Decreased function	Decreased function	\N	\N	2899142	{14551287,18171905,24260284,38596098}	Limited	\N	CYP2B6*39 (c.418C>T, p.R140W; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*39 is assigned decreased function. CYP2B6*39 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). A single in vitro study reported decreased function for p.R140W using buproprion and efavirez as probes (38596098). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777983	355	CYP2D6	*25	\N	Uncertain function	\N	n/a	777982	{24647041,30366777}	Inadequate	\N	CYP2D6*25 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*25 demonstrated decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777475	359	CYP2B6	*28	No function	No function	\N	\N	777474	{17235330,20517174,30201214}	Limited	\N	CYP2B6*28 (c.917C>G, p.T306S; c.1132C>T, p.R378X) – No function: CYP2B6*28 is assigned no function. CYP2B6*28 is defined by a nonsense mutation which results in a premature stop codon resulting in a truncated protein. One study evaluating efavirenz plasma concentrations in patients with HIV found a subject with CYP2B6 *6/*28 genotype had elevated efavirenz AUC compared to the *1 reference and CYP2B6 *6/*6 subjects (17235330). In vitro studies using cDNA expression systems found that CYP2B6*28 demonstrated no enzyme activity (17235330, 20517174). Therefore, consensus among experts was no function based on limited evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.006, "African American/Afro-Caribbean": null}	f
777595	359	CYP2C19	*35	\N	No function	\N	\N	777594	{26021325}	Limited	\N	CYP2C19*35 is assigned no function based on limited evidence. CYP2C19*35 is defined by a splicing defect resulting in a truncated protein (26021325). This splicing defect is also found in CYP2C19*2 which definitively has no function. Although subjects with CYP2C19 *1/*35 did not demonstrate significantly decreased enzyme activity compared to wildtype based on urine metabolites after mephenytoin 100mg once (26021325), the experts did not find this result convincing due to the small sample size. Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.032099508, "African American/Afro-Caribbean": 0.015904458}	f
777763	359	CYP2C9	*48	Uncertain function	Uncertain function	\N	n/a	777762	{24077631,24118918,25142737,25144335,25476996,25614704,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*48 is assigned uncertain function due to inadequate evidence in one heterozygous subject and in vitro studies. One subject with CYP2C9 *1/*48 genotype exhibited increased AUC and decreased oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). In vitro studies found CYP2C9*48 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 25924705, 27163851, 23844998, 25614704). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777310	219	CFTR	2789+5G->A	\N	ivacaftor responsive	\N	\N	777309	{}	\N	ACMG screening panel	\N	\N	f
777695	359	CYP2C9	*14	Decreased function	Decreased function	\N	0.5	777694	{16099926,23844998,24118918,25142737,25144335,25476996,25951663,25832633,25884291,25924705,27163851,24077631,24956244,19077919,15371982,23752738}	Moderate	\N	CYP2C9*14 is assigned decreased function based on moderate evidence in heterozygous patients and in vitro studies. Separate studies of patients on a stable dose of warfarin with CYP2C9 *1/*14 genotype required a lower warfarin dose compared to CYP2C9*1/*1 patients (24956244, 19077919, 15371982). The VKORC1 and CYP4F2 variants associated with increased warfarin dose requirements were also observed in one of these patients which further suggested decreased warfarin metabolism and warfarin dose was due to the CYP2C9 *1/*14 genotype (24956244). In vitro studies similarly found CYP2C9*14 demonstrated decreased clearance of warfarin, phenytoin, tolbutamide, glimepiride, carvedilol, propofol, flurbiprofen, mestranol, diclofenac, and losartan (23752738, 27163851, 16099926, 24077631, 24118918, 25476996, 25832633, 25144335, 25924705, 25951663, 23844998). Although two in vitro studies showed CYP2C9*14 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 and/or CYP2C9*3 which definitively have decreased function and no function, respectively, demonstrated increased activity compared to wildtype in these studies (25142737, 25884291). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00033588216, "Near Eastern": 0.001, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1103380	261	CYP2D6	*147	\N	Uncertain function	\N	n/a	1103379	{}	Inadequate	\N	CYP2D6*147 is assigned uncertain function due to inadequate evidence. CYP2D6*147 is defined by the insertion of three amino acids found in CYP2D6*30 (for which the function is uncertain) and the 100C>T variant which has been shown to cause severely decreased function of e.g. *10. Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5998159	18	CYP2D6	*178	\N	\N	\N	\N	5998158	\N	\N	\N	\N	\N	f
5998161	18	CYP2D6	*179	\N	\N	\N	\N	5998160	\N	\N	\N	\N	\N	f
5998163	18	CYP2D6	*180	\N	\N	\N	\N	5998162	\N	\N	\N	\N	\N	f
5998165	18	CYP2D6	*181	\N	\N	\N	\N	5998164	\N	\N	\N	\N	\N	f
5998167	18	CYP2D6	*182	\N	\N	\N	\N	5998166	\N	\N	\N	\N	\N	f
5998169	18	CYP2D6	*183	\N	\N	\N	\N	5998168	\N	\N	\N	\N	\N	f
5998171	18	CYP2D6	*184	\N	\N	\N	\N	5998170	\N	\N	\N	\N	\N	f
5998173	18	CYP2D6	*185	\N	\N	\N	\N	5998172	\N	\N	\N	\N	\N	f
777991	355	CYP2D6	*29	\N	Decreased function	\N	0.5	777990	{11470994,11823760,24647041,30366777}	Moderate	\N	CYP2D6*29 is assigned decreased function based on moderate evidence in homozygous subjects and in vitro studies. Three subjects with CYP2D6*29/*29 genotype demonstrated decreased metabolism compared to CYP2D6*1/*29 subjects with a debrisoquine substrate (11470994). Similarly, four subjects with CYP2D6*29/*29 genotype demonstrated decreased metabolism compared to wildtype with dextromethorphan and metoprolol substrates (11823760). Multiple in vitro studies found CYP2D6*29 had decreased enzyme activity compared to wildtype with various substrates (11470994, 24647041, 30366777). Although one study found subjects with CYP2D6*29/*29 genotype demonstrated similar metabolism compared to wildtype with debrisoquine and codeine substrates (11823760) the experts did not find this result convincing due to the small sample size. Therefore, consensus among experts with decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": 0.0152478125, "American": 0.0020174354, "European": 0.0010464214, "Oceanian": 0.0, "East Asian": 0.000097904944, "Near Eastern": 0.0077560195, "Central/South Asian": 0.0016065163, "Sub-Saharan African": 0.10825595, "African American/Afro-Caribbean": 0.08743822}	f
778011	355	CYP2D6	*39	\N	Normal function	\N	1.0	778010	{18784265,11266079,24647041,30366777}	Limited	\N	CYP2D6*39 is assigned normal function based on limited evidence. A liver microsomes sample of a subject with CYP2D6 *10/*39 genotype demonstrated similar enzyme activity compared to wildtype with a bufuralol substrate (11266079). Similarly, in vitro studies found CYP2D6*39 demonstrated similar enzyme activity compared to wildtype with bufuralol, dextromethorphan, and tamoxifen substrates (18784265, 24647041). Although one in vitro study found CYP2D6*39 demonstrated decreased clearance compared to wildtype with a primaquine substrate (30366777) the experts did not find this result convincing as CYP2D6*39 demonstrated similar activity compared to wildtype towards a majority of substrates. Therefore, consensus among experts was normal function with an activity value of 1 based on limited evidence.	{"Latino": 0.008, "American": 0.001, "European": 0.014010031, "Oceanian": 0.0063141957, "East Asian": 0.0056442493, "Near Eastern": 0.026844444, "Central/South Asian": 0.0033921853, "Sub-Saharan African": 0.00080620806, "African American/Afro-Caribbean": 0.020066908}	f
3318602	118	CYP4F2	*16	\N	\N	\N	\N	3318601	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481191	15	NAT2	*1	Rapid	Increased function	\N	\N	6481190	{9154882,30564082,15558239,10744128,22092036,20040334,9333101,17011540,24444407,20801937,24221535,27223070,10762005,21946899}	Definitive	\N	NAT2*1 is assigned increased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the reference NAT2*1 allele as "rapid". Under the CPIC allele function terminology, rapid acetylation alleles are categorized as "Increased Function". NAT2*1 corresponds to the NCBI reference sequence, NG_012246.1, containing no SNVs. NAT2*1 has been studied for more than 25 years and has shown rapid acetylation in numerous clinical studies with various substrates. Rapid acetylation activity has been demonstrated in individuals heterozygous for NAT2*1 using caffeine (9333101, 10744128, 15558239, 20801937, 24221535, 27223070), dapsone (10762005), sulfamethazine (21946899), and isoniazid (30149019). NAT2*1 is distinguished from NAT2*4 by the absence of the core SNV c.803G>A (p.R268K).	\N	t
778763	311	G6PD	Cairo	II/Deficient	II/Deficient	\N	\N	778762	{22293322,1945893,22770933}	Moderate	\N	WHO Class II assigned based on evidence supporting decreased enzyme activity (less than A-). Additionally, analysis of the clinical presentation of the 11 children with G6PD Cairo revealed that all suffered hemolytic crises due to fava bean consumption and reported varying levels of jaundice at birth. The resulting in a WHO class II assignment (22770933).	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778923	311	G6PD	Calvo Mackenna	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778922	{22293322,7655862}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
6481215	15	NAT2	*29	Slow	Decreased function	\N	\N	6481214	{10762005,28523442,15564878}	Moderate	\N	NAT2*29 is assigned decreased function based on moderate evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*29 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*29 is characterized by the functional SNVs c.191G>A (p.R64Q, defining NAT2*14) and c.341T>C (p.I114T, defining NAT2*5) which have both repeatedly shown decreased NAT2 N-acetylation in numerous in vivo and in vitro studies. A NAT2 phenotyping study showed that an individual genotyped as NAT2*14/*29 exhibited decreased acetylation of dapsone, with values below the cut-off value used to discriminate phenotypic rapid from slow acetylators (10762005). An in vitro study using a bacterial expression system found that NAT2*29 exhibits decreased thermostability and decreased N-acetyltransferase activity toward sulfamethazine and isoniazid (28523442 ). An additional in vitro study showed that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*29 would presumably be degraded in the same manner. Additionally, five and six out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) and c.191G>A (p.R64Q) impair protein function, respectively. While c.191G>A and c.341T>C are both definitively attributed to decreased function individually, the combinatorial effects of having both variants present in the same allele are uncertain.	\N	f
1103378	261	CYP2D6	*146	\N	Uncertain function	\N	n/a	1103377	{}	Inadequate	\N	CYP2D6*146 is assigned uncertain function. CYP2D6*146 is defined by three SNPs all of which have been found in other star alleles; none of these SNPs have been implicated to cause no function; two are the defining SNPs of the normal function *2 allele and one is the defining SNP of uncertain function *43 allele. Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481275	15	NAT2	*59	Slow	Decreased function	\N	\N	6481274	{18680467}	Moderate	\N	NAT2*59 is assigned decreased function based on moderate evidence. NAT2*59 is characterized by the core SNVs c.475T>A (p.W159R), c.803G>A (p.R268K), and c.857G>A (p.G286E). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.475T>A (p.W159R). Eight out of nine variant effect predictors tested by CPIC staff predict that c.475T>A (p.W159R) impairs protein function. c.857G>A (p.G286E) defines NAT2*7 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Nine out of nine variant effect predictors tested by CPIC staff predict that c.857G>A (p.G286E) does not impair protein function. However, published in silico modeling indicates that c.857G>A (p.G286E) disrupts the size/shape of the protein's active site (18680467). Thus, NAT2*59 is assigned decreased function based on c.857G>A. Despite this, the combinatorial effects associated with c.475T>A and c.857G>A are uncertain.	\N	f
777973	355	CYP2D6	*20	\N	No function	\N	0.0	777972	{10471072}	Limited	\N	CYP2D6*20 is assigned no function based on limited evidence. CYP2D6*20 was identified in a liver sample with decreased protein expression and decreased metoprolol metabolism (10471072). CYP2D6*20 is defined by a base insertion resulting in a frameshift and premature stop codon, yielding a truncated and nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.00011437685, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778149	354	CYP2D6	*115	\N	Unknown function	\N	n/a	778148	{}	No Evidence	\N	CYP2D6*115 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2091243	259	CYP2D6	*155	\N	Unknown function	\N	n/a	2091242	{}	No Evidence	\N	CYP2D6*155 is assigned unknown function due to no literature describing function of this allele. CYP2D6*155 is defined by the five SNPs defining the decreased function *29 allele and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00104, "African American/Afro-Caribbean": null}	f
2091247	259	CYP2D6	*157	\N	Unknown function	\N	n/a	2091246	{}	No Evidence	\N	CYP2D6*157 is assigned unknown function due to no literature describing function of this allele. CYP2D6*157 is defined by the five SNPs defining the decreased function *29 allele and one additional SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
6970386	4	SLCO1B1	*55	\N	\N	\N	\N	6970385	\N	\N	\N	\N	\N	f
6970388	4	SLCO1B1	*56	\N	\N	\N	\N	6970387	\N	\N	\N	\N	\N	f
6970390	4	SLCO1B1	*57	\N	\N	\N	\N	6970389	\N	\N	\N	\N	\N	f
6970392	4	SLCO1B1	*58	\N	\N	\N	\N	6970391	\N	\N	\N	\N	\N	f
777312	219	CFTR	3272-26A->G	\N	ivacaftor responsive	\N	\N	777311	{}	\N	\N	\N	\N	f
777314	219	CFTR	3849+10kbC->T	\N	ivacaftor responsive	\N	\N	777313	{}	\N	ACMG screening panel	\N	\N	f
777318	219	CFTR	A1067T	\N	ivacaftor responsive	\N	\N	777317	{}	\N	\N	\N	\N	f
777320	219	CFTR	A455E	\N	ivacaftor responsive	\N	\N	777319	{}	\N	ACMG screening panel	\N	\N	f
777326	219	CFTR	D1152H	\N	ivacaftor responsive	\N	\N	777325	{}	\N	\N	\N	\N	f
777328	219	CFTR	D1270N	\N	ivacaftor responsive	\N	\N	777327	{}	\N	\N	\N	\N	f
777330	219	CFTR	D579G	\N	ivacaftor responsive	\N	\N	777329	{}	\N	\N	\N	\N	f
777336	219	CFTR	E831X	\N	ivacaftor responsive	\N	\N	777335	{}	\N	\N	\N	\N	f
777338	219	CFTR	F1052V	\N	ivacaftor responsive	\N	\N	777337	{}	\N	\N	\N	\N	f
777340	219	CFTR	F1074L	\N	ivacaftor responsive	\N	\N	777339	{}	\N	\N	\N	\N	f
777342	219	CFTR	G1069R	\N	ivacaftor responsive	\N	\N	777341	{}	\N	\N	\N	\N	f
777344	219	CFTR	G1244E	\N	ivacaftor responsive	\N	\N	777343	{}	\N	\N	\N	\N	f
777346	219	CFTR	G1349D	\N	ivacaftor responsive	\N	\N	777345	{}	\N	\N	\N	\N	f
777350	219	CFTR	G551D	\N	ivacaftor responsive	\N	\N	777349	{}	\N	ACMG screening panel	\N	\N	f
777352	219	CFTR	G551S	\N	ivacaftor responsive	\N	\N	777351	{}	\N	\N	\N	\N	f
777354	219	CFTR	K1060T	\N	ivacaftor responsive	\N	\N	777353	{}	\N	\N	\N	\N	f
777360	219	CFTR	R1070Q	\N	ivacaftor responsive	\N	\N	777359	{}	\N	\N	\N	\N	f
777362	219	CFTR	R1070W	\N	ivacaftor responsive	\N	\N	777361	{}	\N	\N	\N	\N	f
777380	219	CFTR	S549R(A>C)	\N	ivacaftor responsive	\N	\N	777379	{}	\N	\N	\N	\N	f
778013	355	CYP2D6	*40	\N	No function	\N	0.0	778012	{12152006,12811367,24647041,30366777}	Moderate	\N	CYP2D6*40 is assigned no function based on moderate evidence in heterozygous subjects and in vitro studies. CYP2D6*40 is defined by an 18 base pair insertion. CYP2D6*40 has been described in subjects with CYP2D6 *4/*40, CYP2D6 *6/*40, and CYP2D6 *40/*42 genotype demonstrating poor metabolism with a dextromethorphan substrate (12152006, 12811367). Multiple in vitro studies found CYP2D6*40 had nondetectable enzyme activity compared to wildtype with various substrates (24647041, 30366777). Therefore, consensus among experts was no function with an activity value of 0 based on moderate evidence.	{"Latino": null, "American": 0.0, "European": 0.00069944287, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.013845487, "African American/Afro-Caribbean": 0.004642406}	f
778077	354	CYP2D6	*74	\N	Unknown function	\N	n/a	778076	{}	No Evidence	\N	CYP2D6*74 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0013710798, "African American/Afro-Caribbean": 0.0}	f
778073	355	CYP2D6	*72	\N	Uncertain function	\N	n/a	778072	{19158312,24647041,30366777}	Inadequate	\N	CYP2D6*72 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*72 demonstrated decreased enzyme activity compared to wildtype with various substrates (19158312, 24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777431	359	CYP2B6	*5	Normal function	Normal function	\N	\N	777430	{11470993,12642465,17559344,20662624,20841522,21659470,22354160,23254426,23399569,23990572,25897175,26389554,26655325,31324697,32238417}	Strong	\N	CYP2B6*5 (c.1459C>T, p.R487C) - Normal function: CYP2B6*5 is assigned normal function based on in vivo (heterozygous and homozygous patients) and in vitro studies. Multiple studies evaluating efavirenz plasma concentrations among patients with HIV found that carriers of the CYP2B6*5 allele had similar efavirenz plasma concentrations compared to the *1 reference (20662624, 20841522, 22354160, 23254426, 23399569, 23990572). A study evaluating efavirenz content in hair samples among HIV patients taking efavirenz for more than three months found that the CYP2B6*5 allele did not impact long term efavirenz exposure (26655325). In human liver microsomes, decreased protein expression and/or activity was reported (11470993, 17559344). In in vitro expression systems, activity ranged from decreased (32238417, 31324697) to no change (21659470) and increased (12642465, 25897175) activity compared to the *1 reference with various substrates. Since differences in protein expression and enzyme activity observed in vitro were not reflected by meaningful differences in vivo in numerous clinical studies (20662624, 20841522, 22354160, 23254426, 23399569, 23990572, 26389554), consensus among experts was normal function based on strong evidence.	{"Latino": 0.038105432, "European": 0.11547839, "Oceanian": 0.02, "East Asian": 0.011, "Near Eastern": 0.024, "Central/South Asian": null, "Sub-Saharan African": 0.02, "African American/Afro-Caribbean": 0.062061857}	f
777477	359	CYP2B6	*29	Decreased function	Decreased function	\N	\N	777476	{17885627,28181240}	Limited	\N	CYP2B6*29 (CYP2B7-CYP2B6 hybrid gene) – Decreased function: CYP2B6*29 is assigned decreased function. This allele is a hybrid consisting of CYP2B7 (exons 1-4) and CYP2B6 (exons 5-9) harboring 23 amino acid changes compared to the protein encoded by the CYP2B6*1 reference. Among those is c.516G>T which is one of the function-altering variants defining CYP2B6*6. CYP2B6*29 was identified in a subject with an elevated efavirenz AUC compared to the *1 reference and similar to those seen in patients carrying one decreased function allele (17885627). One in vitro study found that primary human hepatocytes of subjects with a CYP2B6*29 allele had slightly lower protein expression and enzyme activity compared to the *1 reference (28181240). The same study also showed that the AUC for 4-OH-cyclophosphamide was significantly lower for patients with a CYP2B6*1/*29 genotype compared to *1/*1 (28181240). Therefore, consensus among experts was decreased function based on limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778945	311	G6PD	Krakow	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778944	{22293322,18066402}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779027	311	G6PD	Laibin	Uncertain	Uncertain function	\N	\N	779026	{22293322,17018380}	Inadequate	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778879	311	G6PD	Ludhiana	II/Deficient	II/Deficient	\N	\N	778878	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778825	311	G6PD	North Dallas	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778824	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
5997309	18	CYP2B6	*50	\N	\N	\N	\N	5997308	\N	\N	\N	\N	\N	f
779097	121	NUDT15	*17	\N	\N	\N	\N	779096	\N	\N	\N	\N	\N	f
777535	359	CYP2C19	*2	\N	No function	\N	\N	777534	{8195181,22027650}	Definitve	\N	CYP2C19*2 is assigned no function based on definitive evidence. CYP2C19*2 has been studied for more than 20 years and its association with impaired function is well-established (8195181, 22027650). CYP2C19*2 is defined by splicing defects resulting in a truncated protein lacking a heme binding region, making it a nonfunctional protein. CYP2C19*2 was first identified in a homozygous subject demonstrating decreased mephenytoin metabolism and was subsequently identified in seventeen additional subjects demonstrating decreased mephenytoin metabolism (8195181). Therefore, consensus among experts was no function based on definitive evidence.	{"Latino": 0.104187496, "American": 0.121365316, "European": 0.14685704, "Oceanian": 0.6095202, "East Asian": 0.28352264, "Near Eastern": 0.11984708, "Central/South Asian": 0.269916, "Sub-Saharan African": 0.15684253, "African American/Afro-Caribbean": 0.18149492}	f
777589	359	CYP2C19	*32	\N	Uncertain function	\N	\N	777588	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*32 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*32 demonstrated enzyme activity ranging from decreased to similar activity compared to wildtype with various substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778921	311	G6PD	Montpellier	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778920	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000027188444, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
778669	311	G6PD	No name	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778668	{22293322,32387609,21446359}	Inadequate	\N	Function assigned based on evidence supporting complete loss of enzyme activity (32387609)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
777459	359	CYP2B6	*20	Decreased function	Decreased function	\N	\N	777458	{16272958,21746968,30201214,18171905,24260284}	Limited	\N	CYP2B6*20 (c.503C>T, p.T168I; c.516G>T, p.Q172H/splice defect; c.785A>G, p.K262R) – Decreased function: CYP2B6*20 is assigned decreased function. CYP2B6*20 contains c.516G>T which causes aberrant splicing (see CYP2B6*6 for more information). Three in vitro studies using cDNA expression systems found decreased enzyme activity of CYP2B6*20 compared to the *1 reference with various substrates (16272958, 21746968, 30201214). As is the same for *6, the mechanism for decreased activity is aberrant splicing caused by c.516G>T, which leads to reduced amounts of protein and thus, activity (14551287, 18171905, 24260284). As a result, alleles having c.516G>T are considered decreased function, regardless of the functional status of additional other variants unless these cause no function (e.g., CYP2B6*13 and CYP2B6*38). Therefore, the consensus among experts was decreased function based on the presence of c.516G>T and limited evidence.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.016, "African American/Afro-Caribbean": 0.0}	f
778971	311	G6PD	Japan, Shinagawa	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778970	{22293322,8193373,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778933	311	G6PD	Madrid	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778932	{22293322,9332310}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778877	311	G6PD	Omiya	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778876	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778955	311	G6PD	Puerto Limon	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778954	{22293322,7160841}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779103	121	NUDT15	*20	\N	\N	\N	\N	779102	\N	\N	\N	\N	\N	f
777569	359	CYP2C19	*19	\N	Decreased function	\N	\N	777568	{17455109,18312490,21325430,25001882,21692664}	Limited	\N	CYP2C19*19 is assigned decreased function based on limited evidence. In vitro studies found CYP2C19*19 had decreased intrinsic clearance compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (17455109, 21325430, 25001882). Although two in vitro studies found CYP2C19*19 demonstrated similar intrinsic clearance compared to wildtype with omeprazole and mephenytoin, the experts did not find these results convincing as CYP2C19*19 also demonstrated higher Km values compared to wildtype in these studies, suggesting CYP2C19*19 has decreased substrate affinity (18312490, 21325430). Additionally, decreased intrinsic clearance compared to wildtype with these two substrates was previously reported as mentioned above. Another study found CYP2C19*19 exhibited significantly reduced catalytic activities compared with CYP2C19*1 across multiple substrates (21692664).Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019673406, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5881977	20	NUDT15	*21	\N	\N	\N	\N	5881976	\N	\N	\N	\N	\N	f
777713	359	CYP2C9	*23	Decreased function	Decreased function	\N	0.5	777712	{23752738,23844998,24118918,25951663,25142737,25144335,25476996,25832633,25884291,25924705,27163851,24077631}	Limited	\N	CYP2C9*23 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*23 demonstrated decreased clearance compared to wildtype (23844998, 24118918, 25144335, 25476996, 23752738, 25832633, 25884291, 25924705, 24077631). Although three in vitro studies showed CYP2C9*23 had similar activity compared to wildtype, the experts did not find these results convincing as in these studies CYP2C9*2 which definitively has decreased function, demonstrated increased or similar activity compared to wildtype in these studies (25142737, 25951663, 27163851). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0002119417, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777591	359	CYP2C19	*33	\N	Uncertain function	\N	\N	777590	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*33 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*33 demonstrated decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and voriconazole substrates (26153442, 30464555, 29098786). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3827887	132	MT-RNR1	m.839A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827886	{21205314}	Inadequate evidence	\N	MT-RNR1 839A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (21205314). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.00006424638, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
777753	359	CYP2C9	*43	No function	No function	\N	0.0	777752	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,27163851,23844998}	Limited	\N	CYP2C9*43 is assigned no function based on limited evidence in in vitro studies. Multiple in vitro studies found CYP2C9*43 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 27163851, 23844998). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777775	359	CYP2C9	*54	Uncertain function	Uncertain function	\N	n/a	777774	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*54 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*54 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481287	10	NAT2	*5G	\N	\N	\N	\N	6481286	\N	\N	\N	\N	\N	f
779065	339	NUDT15	*1	\N	Normal function	\N	\N	779064	{26878724}	\N	\N	\N	{"Latino": 0.93638057, "European": 0.9931303, "East Asian": 0.87874174, "Central/South Asian": 0.93002415}	t
6481291	10	NAT2	*5J	\N	\N	\N	\N	6481290	\N	\N	\N	\N	\N	f
6481293	10	NAT2	*5M	\N	\N	\N	\N	6481292	\N	\N	\N	\N	\N	f
6481297	10	NAT2	*5U	\N	\N	\N	\N	6481296	\N	\N	\N	\N	\N	f
6481241	15	NAT2	*42	\N	Uncertain function	\N	\N	6481240	{19909761}	Inadequate	\N	NAT2*42 is assigned uncertain function based on inadequate evidence. NAT2*42 is characterized by the core SNV c.622T>C (p.Y208H). Published in silico modeling predicts that c.622T>C (p.Y208H) does not alter NAT2 protein function (19909761). Four out of nine variant effect predictors tested by CPIC staff predict that c.622T>C (p.Y208H) impairs protein function. There are no in vitro or in vivo functional studies for NAT2*42	\N	f
777697	359	CYP2C9	*15	No function	No function	\N	0.0	777696	{16099926,23752738}	Limited	\N	CYP2C9*15 is assigned no function based on limited evidence. CYP2C9*15 is defined by a nonsense mutation which results in a premature stop codon resulting in a significant truncation of the protein. In an in vitro study, CYP2C9*15 did not result in detectable protein expression (16099926). CYP2C9*15 was not included in subsequent in vitro studies because it is a null allele resulting in no protein formation (23752738). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
777997	355	CYP2D6	*32	\N	Decreased function	\N	0.25	777996	{24647041,30366777}	Limited	\N	CYP2D6*32 is assigned decreased function with an activity value of 0.25 due to limited evidence. In vitro studies found CYP2D6*32 demonstrated enzyme activity ranging from nondetectable to decreased activity compared to wildtype with various substrates (24647041, 30366777). *32 also contains 2989G>A which is the core SNP of *41 with decreased function and the only other SNP of concern, 3854G>A (E410K) would not be expected to change function as the *27 allele (defined by 3854G>A (E410K)) is normal function. Therefore, consensus among experts was decreased function with limited evidence.	{"Latino": null, "American": 0.0, "European": 0.003, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0004385813, "African American/Afro-Caribbean": 0.0}	f
779744	294	CYP2D6	*43x2	\N	Uncertain function	\N	n/a	778018	{24647041,30366777}	Inadequate	\N	CYP2D6*43x2 is assigned uncertain function due to inadequate evidence. CYP2D6*43 is assigned uncertain function due to inconsistent findings regarding enzyme activity compared to wildtype (24647041, 30366777). Therefore, consensus among experts was uncertain function as it cannot yet be determined what the phenotype of a duplicated allele with uncertain function would be clinically similar to.	{"Latino": null, "American": 0.001, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
778087	355	CYP2D6	*84	\N	Uncertain function	\N	n/a	778086	{28290770}	Inadequate	\N	CYP2D6*84 is assigned uncertain function due to inadequate evidence. A subject with CYP2D6 *12/*84 demonstrated decreased dextromethorphan metabolism based on urine metabolites (28290770). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.003}	f
778089	354	CYP2D6	*85	\N	Unknown function	\N	n/a	778088	{}	No Evidence	\N	CYP2D6*85 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778197	354	CYP2D6	*139	\N	Unknown function	\N	n/a	778196	{}	No Evidence	\N	CYP2D6*139 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.001, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0}	f
777749	359	CYP2C9	*41	Uncertain function	Uncertain function	\N	n/a	777748	{24077631,24118918,25142737,25951663,25144335,25476996,25614704,25832633,25884291,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*41 is assigned uncertain function due to inadequate evidence in one heterozygous subject and in vitro studies. One subject with CYP2C9 *1/*41 genotype exhibited increased AUC but similar oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). In vitro studies found CYP2C9*41 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 27163851, 23844998, 25614704). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779699	294	CYP2D6	*6x2	\N	No function	\N	0.0	777946	{7894499,7951238}	Limited	\N	CYP2D6*6x2 is assigned no function based on limited evidence. CYP2D6*6 is defined by a single nucleotide deletion resulting in a frameshift and premature stop codon yielding a truncated and nonfunctional protein (7894499). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00011035591, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.000067795685}	f
778109	355	CYP2D6	*95	\N	Uncertain function	\N	n/a	778108	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Inadequate	\N	CYP2D6*95 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*95 demonstrated enzyme activity ranging from similar to decreased activity compared to wildtype with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). Therefore, consensus among experts was uncertain function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778079	355	CYP2D6	*75	\N	Uncertain function	\N	n/a	778078	{24647041,26652007,30366777}	Inadequate	\N	CYP2D6*75 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*75 demonstrated decreased enzyme activity compared to wildtype with various substrates (26652007, 24647041, 30366777). Consensus was not achieved among experts as data were sparse. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00029222333, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777693	359	CYP2C9	*13	Decreased function	No function	\N	0.0	777692	{23752738,16308280,15764711,25951663,19541829,16740353,20814155,19604036,21395648,21726410,21842338,22735459,23844998,24118918,24464553,25142737,25476996,25614704,25832633,25884291,27163851,25144335,27377818,27864660,15606435,24077631}	Definitive	\N	CYP2C9*13 is assigned no function based on definitive evidence in heterozygous patients. Subjects with CYP2C9*1/*13 genotype repeatedly demonstrated decreased clearance and increased AUC compared to wildtype subjects and similar clearance and AUC compared to CYP2C9*1/*3 subjects in multiple studies with different substrates (19604036, 21395648, 21726410, 21842338, 22735459, 27377818, 27864660, 15606435). Two studies correlated in vitro data with clinical data and also found increased AUC and decreased clearance compared to wildtype with lornoxicam and tolbutamide (15764711, 25614704). Additionally, a CYP2C9*3/*13 subject had a greater decrease in tolbutamide clearance compared to the CYP2C9*1/*13 subject (25614704). This was also demonstrated in another CYP2C9*3/*13 subject with decreased lornoxicam clearance and increased AUC compared to wildtype, CYP2C9 *1/*3, and CYP2C9*1/*2 subjects (15606435). Multiple in vitro studies demonstrate CYP2C9*13 exhibits decreased metabolism comparable to that observed for CYP2C9*3 for numerous substrates (23844998, 24118918, 24464553, 25142737, 25476996, 25832633, 25884291, 27163851, 24077631, 25951663, 19541829, 20814155, 23752738, 16308280, 25144335) and one model suggests the decreased metabolism across substrates is due to a side chain rotation which blocks the catalytic site (16740353). Therefore, consensus among experts was no function with an activity value of 0 based on definitive evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0033167014, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
778021	355	CYP2D6	*44	\N	No function	\N	0.0	778020	{15618746}	Limited	\N	CYP2D6*44 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*44 was identified in a subject with CYP2D6 *2/*44 genotype demonstrating decreased dextromethorphan metabolism compared to CYP2D6 *1/*2 subjects (15618746). CYP2D6*44 is defined by a splicing defect yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00041258382, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778031	355	CYP2D6	*49	\N	Decreased function	\N	0.5	778030	{19158312,18784265,19364831,24647041,30366777}	Limited	\N	CYP2D6*49 is assigned decreased function based on limited evidence. Subjects with CYP2D6 *1/*49 genotypes demonstrated decreased dextromethorphan metabolism compared to wildtype subjects and subjects with CYP2D6 *10/*49 genotype demonstrated decreased dextromethorphan metabolism compared to subjects with CYP2D6 *1/*10 genotype (19364831). Multiple in vitro studies found CYP2D6*49 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 19158312, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.009911487, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778117	355	CYP2D6	*99	\N	No function	\N	0.0	778116	{29327975}	Limited	\N	CYP2D6*99 is assigned no function based on limited evidence. CYP2D6*99 has been described in a subject with CYP2D6*5/*99 genotype demonstrating markedly decreased metabolism compared to wildtype with dextromethorphan and venlafaxine substrates (29327975). CYP2D6*99 is defined by the same SNPs as CYP2D6*10 in addition to a SNP resulting in an amino acid substitution which disrupts enzyme activity yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.002, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
6481227	15	NAT2	*35	Slow	Decreased function	\N	\N	6481226	{19909761}	Moderate	\N	NAT2*35 is assigned decreased function based on moderate evidence. NAT2*35 is characterized by the core SNVs c.152G>T (p.G51V), c.590G>A (p.R197Q, defining NAT2*6), and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. Published in silico modeling predicts that c.152G>T (p.G51V) alters substrate binding (19909761). Five out of nine variant effect predictors tested by CPIC staff predict that c.152G>T (p.G51V) impairs NAT2 protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*35 is assigned decreased function based on c.590G>A (p.R197Q). Despite this, it remains unknown whether there are any combinatorial effects associated with c.152G>T and c.590G>A.	\N	f
777941	355	CYP2D6	*3	\N	No function	\N	0.0	777940	{2211621}	Limited	\N	CYP2D6*3 is assigned no function based on limited evidence. CYP2D6*3 was first described in a heterozygous subject demonstrating decreased sparteine metabolism based on an elevated urinary metabolite ratio. CYP2D6*3 is defined by a single nucleotide deletion causing a frameshift and resulting in a nonfunctional protein (2211621). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": 0.0071793622, "American": 0.000654978, "European": 0.015922716, "Oceanian": 0.0010404624, "East Asian": 0.0000556167, "Near Eastern": 0.0043491097, "Central/South Asian": 0.0012986185, "Sub-Saharan African": 0.0009698735, "African American/Afro-Caribbean": 0.0032821998}	f
779694	294	CYP2D6	*3x2	\N	No function	\N	0.0	777940	{2211621}	Limited	\N	CYP2D6*3x2 is assigned no function based on limited evidence. CYP2D6*3 is defined by a single nucleotide deletion causing a frameshift and resulting in a nonfunctional protein and is assigned no function (2211621). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing a duplication of this allele would be clinically similar to phenotypes comprising the nonduplicated allele.	{"Latino": 0.00050, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
778777	311	G6PD	Mahidol	III/Deficient	III/Deficient	\N	\N	778776	{22293322,2503817}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00007218132, "Central/South Asian": 0.000366934, "African American/Afro-Caribbean": 0.0}	f
778809	311	G6PD	Nilgiri	II/Deficient	II/Deficient	\N	\N	778808	{22293322,18043863}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
2677040	111	CYP2D6	*164	\N	\N	\N	\N	2677039	\N	\N	\N	\N	\N	f
778887	311	G6PD	Rehevot	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778886	{22293322,11112389}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778737	311	G6PD	Sao Borja	IV/Normal	IV/Normal	\N	\N	778736	{22293322,8436389}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0, "European": 0.000054038475, "East Asian": 0.0, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
779001	311	G6PD	Union,Maewo, Chinese-2, Kalo	II/Deficient	II/Deficient	\N	\N	779000	{22293322,4405605,8447319,1303180,8935319}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00017860332, "European": 0.000045371227, "East Asian": 0.0006079438, "Central/South Asian": 0.00010502547, "African American/Afro-Caribbean": 0.0004229671}	f
777967	355	CYP2D6	*17	\N	Decreased function	\N	0.5	777966	{8764380,8971426,9415713,11823760,24647041,30366777}	Moderate	\N	CYP2D6*17 is assigned decreased function based on moderate evidence. CYP2D6*17 has consistently been described in heterozygous and homozygous subjects demonstrating decreased metabolism of various CYP2D6 substrates compared to wildtype subjects based on urine metabolites (8764380, 8971426, 11823760). Multiple in vitro studies found CYP2D6*17 had at least modestly decreased enzyme activity compared to wildtype with various substrates (9415713, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on moderate evidence.	{"Latino": 0.023261126, "American": 0.0052698795, "European": 0.0039216722, "Oceanian": 0.0010413943, "East Asian": 0.00009343609, "Near Eastern": 0.030970177, "Central/South Asian": 0.0004806022, "Sub-Saharan African": 0.19355686, "African American/Afro-Caribbean": 0.16882424}	f
779009	311	G6PD	Bangkok Noi	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779008	{22293322,21302115}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778783	311	G6PD	Toledo	II/Deficient	II/Deficient	\N	\N	778782	{22293322,22139979}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
6481239	15	NAT2	*41	\N	Uncertain function	\N	\N	6481238	{19909761}	Inadequate	\N	NAT2*41 is assigned uncertain function based on inadequate evidence. NAT2*41 is characterized by the core SNV c.578C>T (p.T193M). Published in silico modeling predicts that c.578C>T (p.T193M) impairs protein function based on exposure of hydrophobic residues that may facilitate protein aggregation or targeted degradation (19909761). Similarly, six out of nine variant effect predictors tested by CPIC staff predict that c.578C>T (p.T193M) impairs protein function. There are no in vitro or in vivo functional studies for NAT2*41	\N	f
2677052	111	CYP2D6	*170	\N	\N	\N	\N	2677051	\N	\N	\N	\N	\N	f
2677042	111	CYP2D6	*165	\N	\N	\N	\N	2677041	\N	\N	\N	\N	\N	f
777993	355	CYP2D6	*30	\N	Uncertain function	\N	n/a	777992	{24647041,30366777}	Inadequate	\N	CYP2D6*30 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2D6*30 demonstrated decreased enzyme activity compared to wildtype with tamoxifen, bufuralol, dextromethorphan, and primaquine substrates (24647041, 30366777). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
6481247	15	NAT2	*45	\N	Uncertain function	\N	\N	6481246	{19909761,24444407}	Inadequate	\N	NAT2*45 is assigned uncertain function based on inadequate evidence. NAT2*45 is characterized by the core SNV c.29T>C (p.I10T). Published in silico modeling predicts that c.29T>C (p.I10T) does not alter NAT2 protein function (19909761). However, five out of nine variant effect predictors tested by CPIC staff predict that c.29T>C (p.I10T) impairs NAT2 protein function. Additionally, a structure-based computational prediction tool predicts that c.29T>C (p.I10T) decreases NAT2 protein stability which could lead to decreased function. The limited clinical data available for NAT2*45 was not sufficient to influence the allele clinical functional status (24444407).	\N	f
2677044	111	CYP2D6	*166	\N	\N	\N	\N	2677043	\N	\N	\N	\N	\N	f
6481197	15	NAT2	*6	Slow	Decreased function	\N	\N	6481196	{9154882,8781741,29589062,28653770,8102597,30564082,15558239,7668286,2376572,1451720,10744128,22092036,1872889,20040334,9333101,22970273,16531626,15565348,9321764,9110365,11214777,31257615,24702251,24444407,15110095,27509179,11773863,20801937,21750470,23899363,9565293,9891107,9682266,24221535,22105431,8287065,27223070,8001235,8923605,10762005,8081359,35928262,28752039,17505821,21946899,16570187,15032315,18167504,17434923,33815485,18680467,19336229,7669073,11337936,28516247}	Definitive	\N	NAT2*6 is assigned decreased function based on definitive evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*6 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*6 is characterized by the core SNVs c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. The functional SNV c.590G>A (p.R197Q) has been studied for more than 25 years and has shown decreased N-acetylation activity in numerous clinical and in vitro studies using various substrates. Clinical studies have demonstrated that individuals homozygous for NAT2*6 or heterozygous for NAT2*6 in combination with another decreased function allele exhibit decreased acetylation activity toward caffeine metabolites (8102597, 7668286, 9891107, 10744128, 20801937, 22970273, 24221535, 28653770), isoniazid (2376572, 9154882, 9321764, 19336229, 35928262), sulphonamides (1872889, 15032315, 16570187, 18167504, 21946899), and dapsone (10762005). Individuals homozygous for NAT2*6 or heterozygous for NAT2*6 in combination with another decreased function allele exhibit increased hydralazine exposure (24702251, 31257615). Seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. In vitro studies have shown that NAT2*6 exhibits decreased thermostability and decreased protein expression (11337936, 17434923, 8081359) as well as decreased acetylation toward various substrates (7669073, 33815485). Several studies indicate the existence of an ultra-slow acetylator phenotype in individuals homozygous for the NAT2*6 allele compared with other NAT2 decreased function alleles (29018032, 28653770, 24221535, 33815485, 7668286, 22970273, 28752039, 16570187, 28516247).	\N	f
778017	355	CYP2D6	*42	\N	No function	\N	0.0	778016	{12811367}	Limited	\N	CYP2D6*42 is assigned no function based on limited evidence in a heterozygous subject. CYP2D6*42 has been described in subjects with CYP2D6 *17/*42 genotype demonstrating decreased metabolism and a subject with CYP2D6 *40/*42 genotype demonstrating poor metabolism with a dextromethorphan substrate (12811367). CYP2D6*42 is defined by a base pair insertion resulting in a frameshift yielding a truncated and nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.00077314815, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.0036646896}	f
6481245	15	NAT2	*44	\N	Uncertain function	\N	\N	6481244	{19909761,28959610,24444407}	Inadequate	\N	NAT2*44 is assigned uncertain function based on inadequate evidence. NAT2*44 is characterized by the core SNV c.403C>G (p.L135V). There is no experimental evidence describing function for c.403C>G (p.L135V). Published in silico modeling predicts that c.403C>G (p.L135V) does not alter NAT2 protein function (19909761). Similarly, eight out of nine variant effect predictors tested by CPIC staff predict that c.403C>G (p.L135V) is neutral/tolerated for NAT2 protein function. The limited clinical data available for NAT2*44 was not sufficient to influence the allele clinical functional status (24444407). Additionally, a NAT2 phenotyping study identified a patient with the genotype NAT2*5/*44, however this individual was excluded from phenotype analysis (28959610).	\N	f
6481269	15	NAT2	*56	Slow	Decreased function	\N	\N	6481268	{}	Moderate	\N	NAT2*56 is assigned decreased function based on moderate evidence. NAT2*56 is characterized by the core SNVs c.58G>T (p.D20Y), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.58G>T (p.D20Y). Eight out of nine variant effect predictors tested by CPIC staff predict that c.58G>T (p.D20Y) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*56 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.58G>T and c.590G>A are uncertain.	\N	f
6481283	15	NAT2	*63	Slow	Decreased function	\N	\N	6481282	{}	Moderate	\N	NAT2*63 is assigned decreased function based on moderate evidence. NAT2*63 is characterized by the core SNVs c.590G>A (p.R197Q), c.650T>A (p.F217Y) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.650T>A (p.F217Y). Seven out of nine variant effect predictors tested by CPIC staff predict c.650T>A (p.F217Y) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*63 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.650T>A and c.590G>A are uncertain.	\N	f
778049	354	CYP2D6	*58	\N	Unknown function	\N	n/a	778048	{}	No Evidence	\N	CYP2D6*58 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0012297297}	f
778075	354	CYP2D6	*73	\N	Unknown function	\N	n/a	778074	{}	No Evidence	\N	CYP2D6*73 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0022734273, "African American/Afro-Caribbean": 0.0}	f
2677046	111	CYP2D6	*167	\N	\N	\N	\N	2677045	\N	\N	\N	\N	\N	f
6481267	15	NAT2	*55	\N	Unknown function	\N	\N	6481266	{}	No evidence	\N	NAT2*55 is assigned unknown function based on a lack of evidence. NAT2*55 is characterized by the core SNVs c.51C>G (p.N17K) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.51C>G (p.N17K). Nine out of nine variant effect predictors tested by CPIC staff predict that c.51C>G (p.N17K) is neutral for protein function.	\N	f
778103	355	CYP2D6	*92	\N	No function	\N	0.0	778102	{25469868,26310775,26666748,26544071,26406933,27109434,27097346,27016952,26542054,26937172,26968424,27203132,27251229,27354764,27538917}	Limited	\N	CYP2D6*92 is assigned no function based on limited evidence. Multiple in vitro studies found CYP2D6*92 had nondetectable enzyme with various substrates (25469868, 26310775, 26666748, 26544071, 26406933, 27109434, 27097346, 27016952, 26542054, 26937172, 26968424, 27203132, 27251229, 27354764, 27538917). CYP2D6*92 is defined by a deletion resulting in a frameshift and early stop codon and yielding a truncated nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2677048	111	CYP2D6	*168	\N	\N	\N	\N	2677047	\N	\N	\N	\N	\N	f
2677050	111	CYP2D6	*169	\N	\N	\N	\N	2677049	\N	\N	\N	\N	\N	f
6481261	15	NAT2	*52	Slow	Decreased function	\N	\N	6481260	{29273096}	Moderate	\N	NAT2*52 is assigned decreased function based on moderate evidence. NAT2*52 is characterized by the core SNVs c.518A>G (p.K173R), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.518A>G (p.K173R). Nine out of nine variant effect predictors tested by CPIC staff predict that c.518A>G (p.K173R) does not impair protein function. Similarly, published in silico analysis indicates that c.518A>G does not alter protein function (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*52 is assigned decreased function based on c.590G>A. While c.518A>G is not predicted to impair protein function, the combinatorial effects associated with c.590G>A and c.518A>G are uncertain.	\N	f
6481273	15	NAT2	*58	Slow	Decreased function	\N	\N	6481272	{29273096}	Moderate	\N	NAT2*58 is assigned decreased function based on moderate evidence. NAT2*58 is characterized by the core SNVs c.346G>A (p.G116S), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.346G>A (p.G116S). Five out of nine variant effect predictors tested by CPIC staff predict that c.346G>A (p.G116S) impairs protein function, which is supported by published in silico analysis (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*58 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.346G>A and c.590G>A are uncertain	\N	f
778125	354	CYP2D6	*103	\N	Unknown function	\N	n/a	778124	{}	No Evidence	\N	CYP2D6*103 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0033, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318540	85	CYP2D6	*172	\N	\N	\N	\N	3318539	\N	\N	\N	\N	\N	f
5175553	32	CYP2D6	*174	\N	\N	\N	\N	5175552	\N	\N	\N	\N	\N	f
5175555	32	CYP2D6	*175	\N	\N	\N	\N	5175554	\N	\N	\N	\N	\N	f
5763833	22	CYP2D6	*177	\N	\N	\N	\N	5763832	\N	\N	\N	\N	\N	f
6481285	15	NAT2	*64	Slow	Decreased function	\N	\N	6481284	{}	Moderate	\N	NAT2*64 is assigned decreased function based on moderate evidence. NAT2*64 is characterized by the core SNVs c.590G>A (p.R197Q), c.796G>A (p.V266M) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.796G>A (p.V266M). Three out of nine variant effect predictors tested by CPIC staff predict c.796G>A (p.V266M) impairs protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*64 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.796G>A and c.590G>A are uncertain	\N	f
778165	354	CYP2D6	*123	\N	Uncertain function	\N	n/a	778164	{31368850}	Inadequate	\N	CYP2D6*123 is assigned uncertain function due to inadequate data describing function of this allele. *123 has the same core SNPs as *41 plus 2870T>C (L302P); this is the only allele with the latter and there does not seem to be additional functional information. Therefore, consensus among experts was uncertain function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778167	355	CYP2D6	*124	\N	No function	\N	0.0	778166	{}	Limited	\N	CYP2D6*124 is assigned no function based on limited evidence. CYP2D6*124 is defined by a deletion resulting in a frameshift and yielding a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481263	15	NAT2	*53	Slow	Decreased function	\N	\N	6481262	{}	Moderate	\N	NAT2*53 is assigned decreased function based on moderate evidence. NAT2*53 is characterized by the core SNVs c.248G>C (p.G83A), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.248G>C (p.G83A). Seven out of nine variant effect predictors tested by CPIC staff predict that c.248G>C (p.G83A) impairs protein function. Similarly, published in silico analysis indicates that c.248G>C (p.G83A) is deleterious for protein function (Abodlaa et al. 2019; Bilal et al. 2022). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*53 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.248G>C and c.590G>A are uncertain.	\N	f
778205	261	CYP2D6	*143	\N	No function	\N	0.0	778204	{33998274}	Limited	\N	CYP2D6*143 is assigned no function based on limited evidence. CYP2D6*143 is defined by a premature stop codon predicted to yield truncated protein and thus be nonfunctional. A subject sequenced as CYP2D6*143/*144 had a risperidone/9-hydroxy-risperidone ratio that was higher (indicating lower activity) compared to that found in subjects with two no function alleles(33998274). Therefore, consensus among experts was no function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481219	15	NAT2	*31	Slow	Decreased function	\N	\N	6481218	{19909761,15564878}	Moderate	\N	NAT2*31 is assigned decreased function based on moderate evidence. NAT2*31 is characterized by the core SNVs c.70T>A (p.L24I) and c.341T>C (p.I114T). Published in silico modeling predicts that c.70T>A (p.L24I) does not impair NAT2 protein function (19909761). However, five out of nine variant effect predictors tested by CPIC staff predict that c.70T>A (p.L24I) impairs protein function and structure-based predictors suggest that c.70T>A (p.L24I) decreases protein stability which could lead to decreased function. c.341T>C (p.I114T, defining NAT2*5) has repeatedly shown decreased NAT2 N-acetylation activity in numerous in vivo and in vitro studies and five out of nine variant effect predictors tested by CPIC staff predict that c.341T>C (p.I114T) impairs protein function. Additionally, an in vitro study showed that NAT2*5 (which contains the core SNV c.341T>C, p.I114T) is subjected to enhanced protein degradation by the proteasome (15564878). Thus, NAT2*31 would presumably be degraded in the same manner and is assigned decreased function based on the function of c.341T>C (p.I114T). Despite this, it remains unknown whether c.70T>A has any combinatorial effects with c.341T>C.	\N	f
777961	355	CYP2D6	*13	\N	No function	\N	0.0	777960	{8554938}	Limited	\N	CYP2D6*13 is assigned no function based on limited evidence. CYP2D6*13 was first described in a subject demonstrating markedly decreased dextromethorphan metabolism (8554938). CYP2D6*13 is a CYP2D7-CYP2D6 hybrid allele resulting in a premature stop codon and yielding a truncated nonfunctional enzyme. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": 0.001, "European": 0.00091628334, "Oceanian": null, "East Asian": 0.0012615201, "Near Eastern": null, "Central/South Asian": 0.00074228394, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.000562724}	f
3685697	150	RYR1	c.7777C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685696	{35849058}	\N	\N	None	{"Latino": 0.00006607, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685719	150	RYR1	c.8198G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685718	{35849058}	\N	\N	PS4_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685725	150	RYR1	c.8360C>G	Benign	Normal function	\N	n/a	3685724	{35849058}	\N	\N	BA1	{"Latino": 0.002814, "American": null, "European": 0.0004409, "East Asian": null, "Near Eastern": 0.01152, "Central/South Asian": 0.0004144, "Sub-Saharan African": 0.02895}	f
3685731	150	RYR1	c.8600T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685730	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685781	150	RYR1	c.10252A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685780	{35849058}	\N	\N	PS4_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
778057	355	CYP2D6	*62	\N	No function	\N	0.0	778056	{17460029,24647041,30366777}	Limited	\N	CYP2D6*62 is assigned no function based on limited evidence. CYP2D6*62 has been described in a subject with reduced enzyme activity with a sparteine substrate (17460029). Multiple in vitro studies found CYP2D6*62 had nondetectable enzyme activity with multiple substrates (17460029, 24647041, 30366777). CYP2D6*62 is defined by a SNP which disrupts heme incorporation resulting in a nonfunctional protein. Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685619	150	RYR1	c.7084G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685618	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685623	150	RYR1	c.7089C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685622	{35849058}	\N	\N	PS4_Mod, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779213	338	RYR1	c.7354C>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779212	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685865	150	RYR1	c.12848A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685864	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": 0.000199, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685877	150	RYR1	c.13672C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685876	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685963	150	RYR1	c.14803G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685962	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779322	338	SLCO1B1	*23	Decreased function	No function	\N	\N	779321	{22147369}	Limited	\N	SLCO1B1*23 is assigned no function based on limited evidence in heterozygous patients and in vitro studies. A clinical study of 1 heterozygous carrier of *23 showed markedly decreased high-dose methotrexate clearance compared to wildtype, slower than a *5/*5 patient (22147369). In vitro uptake was severely diminished compared to wildtype (22147369). Computational activity predictions support the in vitro and in vivo data (22147369).Therefore, consensus among experts was no function with limited evidence.	{"American": null, "European": 0.00010, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00010, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002690	331	SLCO1B1	*39	\N	No function	\N	\N	1002689	{32082363,36964102}	Limited	\N	SLCO1B1*39 is assigned no function based on limited evidence. SLCO1B1*39 is defined by c.388A>G (p.N130D, defining *37) and c.757C>T (p.R253X). The latter results in the generation of a premature stop codon and expression of a truncated protein while c.388A>G is associated with normal SLCO1B1 function. The nonsense variant occurs upstream of the known "no function" variant (c.1463G>C, defining *9 and *31), suggesting that loss of this region of the protein alters function. Additionally, SLCO1B1 loss-of-function has been implicated in the pathogenesis of Rotor syndrome and SLCO1B1*39 has been identified in a homozygous or compound heterozygous state in three cases (32082363, 36964102). Ten out of ten variant effect predictors (VEPs) tested by CPIC staff predict that c.388A>G is neutral for protein function. Four out of four VEPs capable of making predictions for nonsense variants predict that c.757C>T impairs protein function.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778043	355	CYP2D6	*55	\N	Decreased function	\N	0.5	778042	{18784265,24647041,30366777}	Limited	\N	CYP2D6*55 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2D6*55 had decreased enzyme activity compared to wildtype with multiple substrates (18784265, 24647041, 30366777). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00019958949, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
6481205	15	NAT2	*15	Slow	Decreased function	\N	\N	6481204	{28523442}	Moderate	\N	NAT2*15 is assigned decreased function based on moderate evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*15 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*15 is characterized by the core SNVs c.191G>A (p.R64Q, defining NAT2*14) and c.590G>A (p.R197Q, defining NAT2*6) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. c.191G>A and c.590G>A have both repeatedly shown decreased NAT2 acetylation in numerous clinical and in vitro studies. An in vitro study using a bacterial expression system found that NAT2*15 exhibited significantly decreased N-acetyltransferase activity toward sulfamethazine and isoniazid and significantly decreased thermostability compared to the former reference NAT2*4 (28523442). Six and seven out of nine variant effect predictors tested by CPIC staff predict that c.191G>A (p.R64Q) and c.590G>A (p.R197Q) impair protein function, respectively. While c.191G>A and c.590G>A are both definitively attributed to decreased function individually, the combinatorial effects of having both variants present in the same allele are uncertain. Thus, NAT2*15 is assigned a moderate level of evidence.	\N	f
778163	354	CYP2D6	*122	\N	Unknown function	\N	n/a	778162	{}	No Evidence	\N	CYP2D6*122 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.001, "African American/Afro-Caribbean": 0.003}	f
779035	311	G6PD	Buenos Aires	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	779034	{22293322,18086567}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
779013	311	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	II/Deficient	II/Deficient	\N	\N	779012	{22293322,2263506,1953767,22963789}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.00003574748, "European": 0.0, "East Asian": 0.010610976, "Central/South Asian": 0.0, "African American/Afro-Caribbean": 0.0}	f
6481209	15	NAT2	*19	Slow	Decreased function	\N	\N	6481208	{18680467,12222688,9173883}	Limited	\N	NAT2*19 is assigned decreased function based on limited evidence. The NAT gene nomenclature committee has historically assigned acetylation activity to alleles as either "rapid" or "slow", classifying the NAT2*19 allele as "slow" . Under the CPIC allele function terminology, slow acetylation alleles are categorized as "Decreased Function". NAT2*19 is characterized by the core SNVs c.190C>T (p.R64W) and c.803G>A (p.R268K). c.803G>A defines NAT2*4, formerly considered the reference allele, which has repeatedly exhibited increased function in vivo and in vitro. In vitro studies of c.190C>T (p.R64W) have shown decreased protein expression, decreased thermostability, and significantly decreased N-acetyltransferase activity toward sulfamethazine (12222688). An additional in vitro study found that amino acid substitutions of arginine 64 to alanine, lysine, methionine, or glutamine (the latter of which defines NAT2*14) significantly decreased NAT2 protein stability and N-acetyltransferase activity toward p-aminosalicylic acid and all but p.R64K showed decreased N-acetyltransferase activity toward sulfamethazine (9173883). These results highlight the importance of the p.R64 residue for proper NAT2 catalytic activity. Published in silico modeling predicts that c.190C>T (p.R64W) decreases NAT2 protein stability, decreases flexibility and hydrogen bond capacity, and increases hydrophobicity and aromaticity resulting in a loss of electrostatic interactions (18680467). Similarly, six out of nine variant effect predictors tested by CPIC staff predict that c.190C>T (p.R64W) impairs NAT2 protein function.	\N	f
6481231	15	NAT2	*37	Slow	Decreased function	\N	\N	6481230	{29273096}	Moderate	\N	NAT2*37 is assigned decreased function based on moderate evidence. NAT2*37 is characterized by the core SNVs c.590G>A (p.R197Q), c.638C>T (p.P213L) and c.803G>A. c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no experimental evidence describing function for c.638C>T (p.P213L). Seven out of nine variant effect predictors tested by CPIC staff predict that c.638C>T (p.P213L) impairs protein function, which is supported by published in silico analysis (29273096). c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A impairs protein function. Thus, NAT2*37 is assigned decreased function based on c.590G>A. Despite this, it remains unknown whether there are any combinatorial effects associated with c.638C>T and c.590G>A.	\N	f
778941	311	G6PD	Hartford	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778940	{22293322,1945893}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778771	311	G6PD	Ilesha	III/Deficient	III/Deficient	\N	\N	778770	{22293322,7959686,848857}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": 0.0011765126, "European": 0.000009013232, "East Asian": 0.0, "Central/South Asian": 0.00041928721, "African American/Afro-Caribbean": 0.00052700925}	f
6481281	15	NAT2	*62	Slow	Decreased function	\N	\N	6481280	{}	Moderate	\N	NAT2*62 is assigned decreased function based on moderate evidence. NAT2*62 is characterized by the core SNVs c.536A>G (p.H179R), c.590G>A (p.R197Q) and c.803G>A (p.R268K). c.803G>A (p.R268K) defines NAT2*4, formerly considered the reference allele, which has repeatedly shown increased function in vivo and in vitro. There is no literature describing function for c.536A>G (p.H179R). Nine out of nine variant effect predictors tested by CPIC staff predict that c.536A>G (p.H179R) does not impair protein function. c.590G>A (p.R197Q) defines NAT2*6 which has been extensively studied, exhibiting decreased N-acetyltransferase activity both in vivo and in vitro. Similarly, seven out of nine variant effect predictors tested by CPIC staff predict that c.590G>A (p.R197Q) impairs protein function. Thus, NAT2*62 is assigned decreased function based on c.590G>A. Despite this, the combinatorial effects associated with c.536A>G and c.590G>A are uncertain	\N	f
778755	311	G6PD	Mt Sinai	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778754	{22293322,32387609,9452072}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778745	311	G6PD	Santa Maria	II/Deficient	II/Deficient	\N	\N	778744	{22293322,7959686,1879833,9250351}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778807	311	G6PD	Santiago	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778806	{22293322,1611091}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778835	311	G6PD	Wayne	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778834	{22293322,3565372}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
3685515	150	RYR1	c.5317C>T	Benign	Normal function	\N	n/a	3685514	{33767344}	\N	\N	BA1	{"Latino": null, "American": null, "European": null, "East Asian": 0.01348, "Near Eastern": null, "Central/South Asian": 0.0002069, "Sub-Saharan African": null}	f
3685613	150	RYR1	c.7073T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685612	{33767344}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685903	150	RYR1	c.14197T>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685902	{35849058}	\N	\N	PS4_Sup, PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779245	338	RYR1	c.14693T>C	Variant of uncertain significance	Uncertain function	\N	n/a	779244	{}	\N	\N	PM1_Sup, PP3_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685965	150	RYR1	c.14813T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685964	{35849058}	\N	\N	PS3_Mod, PS4_Sup, PM1_Sup, PP3_Mod, BS2_Mod, BS3_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685973	150	RYR1	c.14825G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685972	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685975	150	RYR1	c.14879T>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685974	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685979	150	RYR1	c.14968A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685978	{35849058}	\N	\N	PS4_Sup, PM1_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3827889	132	MT-RNR1	m.896A>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827888	{18830133}	Inadequate evidence	\N	MT-RNR1 896A>G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0030198046, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null}	f
3827909	132	MT-RNR1	m.1243T>C	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827908	{7550368}	Inadequate evidence	\N	MT-RNR1 1243T>C is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (7550368). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.023302607, "East Asian": 0.0006748, "Near Eastern": 0.01625, "Central/South Asian": 0.02612, "Sub-Saharan African": null}	f
779328	337	SLCO1B1	*26	\N	Uncertain function	\N	\N	779327	{22147369,33658230}	Inadequate	\N	SLCO1B1*26 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": 0.00020, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.00030, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779342	337	SLCO1B1	*33	\N	Uncertain function	\N	\N	779341	{22147369,33658230}	Inadequate	\N	SLCO1B1*33 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369) and one in vitro study found decreased protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002686	331	SLCO1B1	*37	\N	Normal function	\N	\N	1002685	{32961594,32961019,11477075}	Strong	\N	SLCO1B1*37 is assigned normal function based on strong evidence in heterozygous and homozygous individuals. The plasma levels of highly sensitive OATP1B1 endogenous substrates GCDCA-3G, GDCA-3G and CPI are slightly and non-significantly lower in SLCO1B1*37 homozygotes (32961594, 32961019). In vitro studies have mostly demonstrated unaltered activity compared to SLCO1B1*1 (11477075).	{"American": 0.39, "European": 0.25273752, "Oceanian": 0.66, "East Asian": 0.6147381, "Near Eastern": 0.31, "Central/South Asian": 0.46023798, "Sub-Saharan African": 0.80076206, "African American/Afro-Caribbean": 0.76}	f
3685329	150	RYR1	c.190T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685328	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685333	150	RYR1	c.251C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685332	{35849058}	\N	\N	PS3_Mod, PM1	{"Latino": null, "American": null, "European": 0.00001472, "East Asian": 0.0009731, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
1002624	331	SLCO1B1	*1	\N	Normal function	\N	\N	1002623	{10601278,10644574,10358072,12811365,15116054,15226675,21245207,32961594}	Definitive	\N	SLCO1B1*1 is the reference allele, associated with normal OATP1B1 activity based on a large number of in vitro (10601278, 10644574, 10358072) and clinical data (12811365, 15116054, 15226675, 21245207, 32961594).	{"American": 0.37, "European": 0.4027496, "Oceanian": 0.33999997, "East Asian": 0.25522262, "Near Eastern": 0.49, "Central/South Asian": 0.46972018, "Sub-Saharan African": 0.17130345, "African American/Afro-Caribbean": 0.23000002}	t
3685429	150	RYR1	c.1565A>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685428	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685435	150	RYR1	c.1597C>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685434	{33767344}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
777579	359	CYP2C19	*26	\N	Decreased function	\N	\N	777578	{19661214,25001882}	Limited	\N	CYP2C19*26 is assigned decreased function based on limited evidence in a heterozygous subject and in vitro studies. CYP2C19*26 was first described in a subject also carrying the CYP2C19*2 allele and demonstrated decreased omeprazole metabolism compared to wildtype and CYP2C19 *1/*2 or CYP2C19*1/*3 subjects based on the plasma metabolite ratio. This result was correlated with an in vitro study which showed CYP2C19*26 demonstrated decreased intrinsic clearance compared to wildtype with mephenytoin and omeprazole substrates (19661214). An additional in vitro study using a different cell system similarly found CYP2C19*26 demonstrated decreased intrinsic clearance compared to wildtype with mephenytoin and clopidogrel substrates (25001882). Therefore, consensus among experts was decreased function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685541	150	RYR1	c.6388G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685540	{35849058}	\N	\N	PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": 0.0001925, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685555	150	RYR1	c.6544A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685554	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685679	150	RYR1	c.7385C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685678	{33767344}	\N	\N	PP3_Mod	{"Latino": 0.00006543, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0002068, "Sub-Saharan African": 0.00002413}	f
779225	338	RYR1	c.7522C>G	Variant of uncertain significance	Uncertain function	\N	n/a	779224	{}	\N	\N	PS3_Mod, PM5_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685701	150	RYR1	c.7787C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685700	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685713	150	RYR1	c.8054C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685712	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685787	150	RYR1	c.10747G>C	Benign	Normal function	\N	n/a	3685786	{33767344}	\N	\N	BA1	{"Latino": 0.007591, "American": 0.002193, "European": 0.018851086, "East Asian": 0.0003858, "Near Eastern": 0.000288, "Central/South Asian": 0.02488, "Sub-Saharan African": 0.003764}	f
3685325	150	RYR1	c.178G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685324	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": 0.00001475, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
2677014	111	CYP2D6	*151	\N	\N	\N	\N	2677013	\N	\N	\N	\N	\N	f
777685	359	CYP2C9	*9	Normal function	Normal function	\N	1.0	777684	{23752738,15284535,21811894,28758225,16220110,19164093,20716240}	Strong	\N	CYP2C9*9 is assigned normal function based on strong evidence in heterozygous patients, homozygous patients, and in vitro studies. Twenty-one subjects with CYP2C9 *1/*9 genotype and three subjects with CYP2C9 *9/*9 genotype had similar urinary excretion of a phenytoin metabolite compared to CYP2C9 *1/*1 subjects following a phenytoin 300mg dose, demonstrating CYP2C9*9 is not associated with decreased phenytoin metabolism (16220110). Seven subjects with CYP2C9 *1/*9 genotype had similar acenocoumarol plasma concentrations 8 and 24 hours after an 8mg dose compared to CYP2C9 *1/*1 subjects (21811894). Seven patients on a stable dose of warfarin with CYP2C9 *1/*9 genotype had a similar maintenance warfarin dose compared to CYP2C9 *1/*1 patients (20716240). In vitro studies demonstrated CYP2C9*9 intrinsic clearance or enzyme activity was similar compared to wildtype using warfarin and tolbutamide substrates (23752738, 15284535). Although one in vitro study showed CYP2C9*9 demonstrated decreased enzyme activity with a 7-ethoxycoumarin substrate compared to wildtype (28758225), the experts did not find this result convincing as no clinical difference was seen in patients taking acenocoumarol or warfarin, or in another in vitro study using a warfarin substrate as previously described. Although one study using the polyphen computational program to predict the functional effect of the SNP defining CYP2C9*9 predicted the substitution as possibly damaging to enzyme function, the authors also noted that this effect has not been shown in clinical phenotypic studies (19164093). Therefore, consensus among experts was normal function with an activity value of 1 based on strong evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.1295592, "African American/Afro-Caribbean": 0.0}	f
3685493	150	RYR1	c.4400A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685492	{33767344}	\N	\N	BP4	{"Latino": null, "American": null, "European": 0.0000149, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685537	150	RYR1	c.6377G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685536	{35849058}	\N	\N	PS4_Sup, PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685601	150	RYR1	c.7036G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685600	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779217	338	RYR1	c.7361G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779216	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod, BS2_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685693	150	RYR1	c.7771C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685692	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00007262}	f
2784573	147	CYP4F2	*4	\N	\N	\N	\N	2784572	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2784575	147	CYP4F2	*5	\N	\N	\N	\N	2784574	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2784577	147	CYP4F2	*6	\N	\N	\N	\N	2784576	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
2784579	147	CYP4F2	*7	\N	\N	\N	\N	2784578	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318586	118	CYP4F2	*8	\N	\N	\N	\N	3318585	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318588	118	CYP4F2	*9	\N	\N	\N	\N	3318587	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318590	118	CYP4F2	*10	\N	\N	\N	\N	3318589	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318592	118	CYP4F2	*11	\N	\N	\N	\N	3318591	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318594	118	CYP4F2	*12	\N	\N	\N	\N	3318593	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318596	118	CYP4F2	*13	\N	\N	\N	\N	3318595	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3318598	118	CYP4F2	*14	\N	\N	\N	\N	3318597	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
4058605	80	CYP4F2	*17	\N	\N	\N	\N	4058604	\N	\N	\N	\N	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779229	338	RYR1	c.9310G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779228	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685839	150	RYR1	c.12242C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685838	{35849058}	\N	\N	None	{"Latino": 0.0003275, "American": null, "European": 0.0000294, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685847	150	RYR1	c.12398A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685846	{35849058}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": 0.00006549, "American": null, "European": 0.0001029, "East Asian": null, "Near Eastern": null, "Central/South Asian": 0.0002075, "Sub-Saharan African": 0.00002412}	f
3685853	150	RYR1	c.12532G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685852	{33767344}	\N	\N	PS4_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779314	337	SLCO1B1	*19	\N	Uncertain function	\N	\N	779313	{15226675,22147369,29898760,23311897}	Inadequate	\N	SLCO1B1*19 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed 1 heterozygous subject treated with pravastatin had similar pharmacokinetic parameters to subjects with wildtype alleles (15226675). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779324	337	SLCO1B1	*24	\N	Uncertain function	\N	\N	779323	{22147369}	Inadequate	\N	SLCO1B1*24 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed 2 heterozygous subjects treated with high-dose methotrexate had similar methotrexate clearance to subjects with wildtype alleles (22147369). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779308	337	SLCO1B1	*16	\N	Uncertain function	\N	\N	779307	{12811365,33658230}	Inadequate	\N	SLCO1B1*16 is assigned uncertain function based on limited in vitro evidence and clinical data. One clinical study showed 2 heterozygous subjects treated with pravastatin had similar pharmacokinetic parameters to subjects with wildtype alleles and one invitro study found normal protein expression (33658230). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": 0.0005718263, "Oceanian": null, "East Asian": 0.0045032115, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1002706	331	SLCO1B1	*47	\N	No function	\N	\N	1002705	{33658230,11477075,32961594,21245207}	Limited	\N	SLCO1B1*47 is assigned no function due to no literature describing function of this allele. It contains 3 variants, rs2306283, rs4149056, both included in the no function *15 allele and rs72559747. One in vitro study found normal protein expression and transport for the rs72559747 variant (33658230). Based on evidence supporting the function of rs4149056C>T (11477075, 32961594, 21245207), SLCO1B1*47 is assigned no function with limited evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1357094	320	SLCO1B1	*49	\N	No function	\N	\N	1357093	{22232210}	Limited	\N	SLCO1B1*48 is assigned no function due to evidence supporting a partial gene deletion (22232210). Therefore, consensus among experts was no function due to limited evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777707	359	CYP2C9	*20	Uncertain function	Uncertain function	\N	n/a	777706	{23752738}	Inadequate evidence	\N	CYP2C9*20 is assigned uncertain function due to inadequate evidence. In one in vitro study, CYP2C9*20 demonstrated decreased enzyme activity compared to wildtype with a warfarin and tolbutamide substrate (23752738). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777709	359	CYP2C9	*21	Uncertain function	Uncertain function	\N	n/a	777708	{23752738}	Inadequate evidence	\N	CYP2C9*21 is assigned uncertain function due to inadequate evidence. In one in vitro study, CYP2C9*21 demonstrated no enzyme activity compared to wildtype with a warfarin and tolbutamide substrate (23752738). Therefore, consensus among experts was uncertain function due to insufficient evidence.	{"Latino": 0.00030, "American": null, "European": 0.00010, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779095	121	NUDT15	*16	\N	\N	\N	\N	779094	\N	\N	\N	\N	\N	f
777717	359	CYP2C9	*25	No function	No function	\N	0.0	777716	{23752738,16788382}	Limited	\N	CYP2C9*25 is assigned no function based on limited evidence. CYP2C9*25 is defined by a deletion which leads to a frameshift resulting in an early stop codon and truncated protein. This was demonstrated in an in vitro study where CYP2C9*25 had similar mRNA levels compared to wildtype but no protein expression (16788382). CYP2C9*25 was not included in subsequent in vitro studies because it is it is a null allele resulting in no protein formation (23752738). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal and decreased function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.002, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779042	60	IFNL3	rs12979860 reference (C)	\N	\N	\N	\N	779041	\N	\N	\N	\N	\N	t
779044	60	IFNL3	rs12979860 variant (T)	\N	\N	\N	\N	779043	\N	\N	\N	\N	\N	f
777727	359	CYP2C9	*30	Decreased function	Decreased function	\N	0.5	777726	{23752738,19541829,16788382}	Limited	\N	CYP2C9*30 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*30 demonstrated decreased clearance compared to wildtype. These studies used different cell systems and substrates included warfarin, tolbutamide, diclofenac, losartan, and glimepiride (23752738, 19541829, 16788382). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0015598785, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779083	121	NUDT15	*10	\N	\N	\N	\N	779082	\N	\N	\N	\N	\N	f
777739	359	CYP2C9	*36	Uncertain function	Uncertain function	\N	n/a	777738	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*36 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*36 demonstrated enzyme activity ranging from markedly decreased to markedly increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778219	352	CYP3A5	*1	\N	Normal function	\N	\N	778218	{12893984}	\N	\N	12893984: testosterone, nifedipine (in vitro)	{"Latino": 0.17279238, "European": 0.07410407, "East Asian": 0.25355196, "Near Eastern": 0.121941924, "Central/South Asian": 0.32672024, "Sub-Saharan African": 0.47940862, "African American/Afro-Caribbean": 0.4528548}	t
778223	352	CYP3A5	*3	\N	No function	\N	\N	778222	{15179407}	\N	\N	15179407: midalozam (in vivo)	{"Latino": 0.7651353, "European": 0.9243815, "East Asian": 0.7457923, "Near Eastern": 0.83611745, "Central/South Asian": 0.67327976, "Sub-Saharan African": 0.24094562, "African American/Afro-Caribbean": 0.31597915}	f
778229	351	CYP3A5	*6	\N	No function	\N	\N	778228	{11279519}	\N	\N	\N	{"Latino": 0.037054006, "European": 0.0015144596, "East Asian": 0.0006557377, "Near Eastern": 0.038085584, "Central/South Asian": 0.0, "Sub-Saharan African": 0.19323565, "African American/Afro-Caribbean": 0.11116607}	f
2677012	111	CYP2D6	*150	\N	\N	\N	\N	2677011	\N	\N	\N	\N	\N	f
777751	359	CYP2C9	*42	No function	No function	\N	0.0	777750	{24077631,24118918,25142737,25144335,25476996,25614704,25832633,25951663,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*42 is assigned no function based on limited evidence in one heterozygous patient and in vitro studies. One subject with CYP2C9*1/*42 genotype exhibited twice the AUC and less than half the oral clearance compared to wildtype subjects based on tolbutamide plasma concentrations after one 500mg dose (25614704). Multiple in vitro studies found CYP2C9*42 demonstrated markedly decreased clearance compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25951663, 25884291, 25924705, 27163851, 23844998, 25614704). Therefore, consensus among experts was no function with an activity value of 0 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function or decreased function alleles.	{"Latino": 0.00010, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.01, "Near Eastern": 0.00054534996, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777761	359	CYP2C9	*47	Uncertain function	Uncertain function	\N	n/a	777760	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25924705,25951663,27163851,23844998}	Inadequate evidence	\N	CYP2C9*47 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*47 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25924705, 25951663, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778231	352	CYP3A5	*7	\N	No function	\N	\N	778230	{14515058}	\N	\N	14515058: midazolam (in vitro)	{"Latino": 0.02501835, "European": 0.0, "East Asian": 0.0, "Near Eastern": 0.00385505, "Central/South Asian": null, "Sub-Saharan African": 0.08641013, "African American/Afro-Caribbean": 0.12}	f
778233	351	CYP3A5	*8	\N	Unknown function	\N	\N	778232	{}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777765	359	CYP2C9	*49	Uncertain function	Uncertain function	\N	n/a	777764	{24077631,24118918,25142737,25144335,25476996,25832633,25884291,25951663,27163851,23844998}	Inadequate evidence	\N	CYP2C9*49 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*49 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25476996, 25832633, 25884291, 25951663, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777767	359	CYP2C9	*50	Decreased function	Decreased function	\N	0.5	777766	{24077631,24118918,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,23844998}	Limited	\N	CYP2C9*50 is assigned decreased function based on limited evidence. Multiple in vitro studies found CYP2C9*50 demonstrated decreased clearance compared to wildtype for multiple substrates (24077631, 24118918, 25476996, 25144335, 25951663, 25832633, 25884291, 27163851, 25142737, 25924705, 23844998). Therefore, consensus among experts was decreased function with an activity value of 0.5 based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777769	359	CYP2C9	*51	Uncertain function	Uncertain function	\N	n/a	777768	{24077631,24118918,25142737,25144335,25951663,25476996,25832633,25884291,25924705,27163851,23844998}	Inadequate evidence	\N	CYP2C9*51 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C9*51 demonstrated enzyme activity ranging from decreased to increased compared to wildtype with various substrates (24077631, 24118918, 25142737, 25144335, 25951663, 25476996, 25832633, 25884291, 25924705, 27163851, 23844998). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779510	185	VKORC1	rs9923231 variant (T)	\N	\N	\N	\N	779509	\N	\N	\N	\N	{"Latino": 0.39330897, "American": 0.6160526, "European": 0.4132605, "East Asian": 0.8664911, "Near Eastern": 0.45357868, "Central/South Asian": 0.15644945, "Sub-Saharan African": 0.107742354, "African American/Afro-Caribbean": 0.101332836}	f
779508	185	VKORC1	rs9923231 reference (C)	\N	\N	\N	\N	779507	\N	\N	\N	\N	{"Latino": 0.606691, "American": 0.38394737, "European": 0.58673954, "East Asian": 0.13350892, "Near Eastern": 0.5464213, "Central/South Asian": 0.84355056, "Sub-Saharan African": 0.89225763, "African American/Afro-Caribbean": 0.89866716}	t
778235	351	CYP3A5	*9	\N	Unknown function	\N	\N	778234	{}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1508725	341	ABCG2	rs2231142 reference (G)	\N	Normal function	\N	\N	1508724	{}	\N	\N	\N	{"Latino": 0.7756, "American": 0.8, "European": 0.8964, "Oceanian": 0.7952753, "East Asian": 0.6929, "Near Eastern": 0.9347, "Central/South Asian": 0.9068, "Sub-Saharan African": 0.994154, "African American/Afro-Caribbean": 0.9651338}	f
779067	339	NUDT15	*2	\N	No function	\N	\N	779066	{26878724}	\N	undetectable enzymatic activity in vitro	\N	{"Latino": 0.0365, "European": 0.0, "East Asian": 0.035, "Central/South Asian": 0.0}	f
777267	359	CACNA1S	c.3257G>A	Uncertain function	Malignant Hyperthermia associated	\N	\N	777266	{9199552,11260227,12411788,16163667,15201141}	\N	\N	9199552: positive IVCT; 11260227: positive IVCT; 12411788: positive IVCT; 16163667: positive IVCT; 15201141: Similar to that observed for MH mutations in RYR1, the R1086H MH mutation in the 1S-subunit of the skeletal muscle DHPR increases the sensitivity of the calcium release mechanism to activation by both pharmacological (caffeine) and endogenous (voltage sensor) activators. Threshold for caffeine-induced calcium release is approximately fivefold lower in R1086H- expressing myotubes. Increased "sensitivity" of RYR1 to activation by caffeine may be a consequence of an elevated resting calcium level in R1086H- expressing myotubes. The data suggest that the intracellular III-IV linker of the DHPR acts as a negative regulatory module for release channel activation and that the R1086H MH mutation in 1S disrupts this critical negative allosteric regulatory mechanism.	{"Latino": 0.00002891, "European": 0.0, "East Asian": 0.0, "Near Eastern": 0.0, "Central/South Asian": 0.0}	f
777356	219	CFTR	L206W	\N	ivacaftor responsive	\N	\N	777355	{}	\N	\N	\N	\N	f
777358	219	CFTR	P67L	\N	ivacaftor responsive	\N	\N	777357	{}	\N	\N	\N	\N	f
777372	219	CFTR	R74W	\N	ivacaftor responsive	\N	\N	777371	{}	\N	\N	\N	\N	f
777807	341	CYP2C9	*70	Uncertain function	Uncertain function	\N	n/a	777806	{33536773}	Inadequate evidence	\N	CYP2C9*70 is assigned uncertain funciton due to inadequate evidence. The nonsynonymous variants present in CYP2C9*70 are predicted to be deleterious in SIFT and and benign in Polyphen predictions. There are no in vitro or clinical studies reported. Consensus was not achieved among experts and therefore uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777809	341	CYP2C9	*71	Uncertain function	Uncertain function	\N	n/a	777808	{}	Inadequate evidence	\N	CYP2C9*71 is assigned uncertain function due to limited literature describing function of this allele. This allele has the same variants as *10 (uncertain function) and *12 (decreased function) but no literature supporting the function for *71. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777308	219	CFTR	ivacaftor non-responsive CFTR sequence	\N	ivacaftor non-responsive	\N	\N	777307	{}	\N	\N	\N	\N	f
777316	219	CFTR	711+3A->G	\N	ivacaftor responsive	\N	\N	777315	{}	\N	ACMG screening panel	\N	\N	f
777322	219	CFTR	D110E	\N	ivacaftor responsive	\N	\N	777321	{}	\N	\N	\N	\N	f
777324	219	CFTR	D110H	\N	ivacaftor responsive	\N	\N	777323	{}	\N	\N	\N	\N	f
777332	219	CFTR	E193K	\N	ivacaftor responsive	\N	\N	777331	{}	\N	\N	\N	\N	f
777334	219	CFTR	E56K	\N	ivacaftor responsive	\N	\N	777333	{}	\N	\N	\N	\N	f
777348	219	CFTR	G178R	\N	ivacaftor responsive	\N	\N	777347	{}	\N	\N	\N	\N	f
777423	359	CYP2B6	*1	\N	Normal function	\N	\N	777422	{}	\N	\N	\N	{"Latino": 0.49736506, "European": 0.49070138, "Oceanian": 0.34000003, "East Asian": 0.64004594, "Near Eastern": 0.476, "Central/South Asian": 0.6084849, "Sub-Saharan African": 0.31465185, "African American/Afro-Caribbean": 0.41346413}	t
777441	359	CYP2B6	*10	\N	Uncertain function	\N	\N	777440	{21746968,30201214}	Inadequate	\N	CYP2B6*10 (c.62A>T, p.Q21L and c.64C>T, p.R22C) - Uncertain function: CYP2B6*10 is assigned uncertain function. In vitro studies using cDNA expression systems (21746968, 30201214) demonstrated decreased enzyme activity compared to the *1 reference. However, consensus among experts was uncertain function based on inadequate evidence as it could not be determined if diplotypes containing this allele would be phenotypically distinct from diplotypes comprising two normal function alleles.	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779479	121	TPMT	*42	\N	\N	\N	\N	779478	\N	\N	\N	\N	\N	f
777461	359	CYP2B6	*21	No or decreased function	Uncertain function	\N	\N	777460	{16272958,20517174,21746968,30201214}	Inadequate	\N	CYP2B6*21 (c.1282C>A, p.P428T) – Uncertain function: CYP2B6*21 is assigned uncertain function. In vitro studies using cDNA expression systems found no or severely decreased enzyme activity for CYP2B6*21 (20517174, 21746968, 16272958, 30201214). However, there was no in vivo data available or data in human liver microsomes. Therefore, the consensus among experts was uncertain function based on inadequate evidence.	{"Latino": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0127297295, "African American/Afro-Caribbean": 0.0}	f
779451	337	TPMT	*28	\N	Uncertain function	\N	\N	779450	{20945351}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777427	359	CYP2B6	*3	\N	Uncertain function	\N	\N	777426	{12642465,30201214}	Inadequate	\N	CYP2B6*3 (c.777C>A, p.S259R) - Uncertain function: CYP2B6*3 is assigned uncertain function. In vitro studies using cDNA expression systems demonstrated that CYP2B6*3 had similar enzyme activity or slightly decreased activity compared to the *1 reference (12642465, 30201214). This discrepancy is probably due to differences in the in vitro expression systems and substrates used. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"Latino": 0.0018442405, "European": 0.00213266, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0024408852, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0022592593}	f
777465	358	CYP2B6	*23	\N	Uncertain function	\N	\N	777464	{21746968,30201214}	Inadequate	\N	CYP2B6*23 (c.1375A>G, p.M459V) – Uncertain function: CYP2B6*23 is assigned uncertain function. One in vitro cDNA expression study found evidence of higher expression which did not cause a change in activity (30201214), while another study showed slightly increased activity (21746968). Therefore, the consensus among experts was uncertain function based on inadequate evidence.	{"Latino": 0.0, "European": 0.00005515508, "Oceanian": null, "East Asian": 0.002063492, "Near Eastern": null, "Central/South Asian": 0.000043009855, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779453	337	TPMT	*29	\N	No function	\N	\N	779452	{22447118}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0002899, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777445	359	CYP2B6	*12	No function	No function	\N	\N	777444	{15190123,20517174,21746968,30201214}	Limited	\N	CYP2B6*12 (c.296G>A, p.G99E) - No function: CYB2B6*12 is assigned no function. Multiple in vitro studies using human liver microsomes (15190123) and cDNA expression systems (20517174, 21746968, 30201214) found that CYP2B6*12 has no protein expression or enzyme activity compared to the *1 reference with various substrates. Therefore, consensus among experts was no function based on limited evidence.	{"Latino": 0.000541036, "European": 0.00006630849, "Oceanian": null, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779069	339	NUDT15	*3	\N	No function	\N	\N	779068	{26878724}	\N	undetectable enzymatic activity in vitro	\N	{"Latino": 0.0075, "European": 0.002, "East Asian": 0.0605, "Central/South Asian": 0.067}	f
779071	339	NUDT15	*4	\N	Uncertain function	\N	\N	779070	{26878724}	\N	23.6 Vmax/Km	\N	{"Latino": 0.01786, "European": 0.00003285361, "East Asian": 0.0011128682, "Central/South Asian": 0.00003269}	f
777545	359	CYP2C19	*7	\N	No function	\N	\N	777544	{10411572}	Limited	\N	CYP2C19*7 is assigned no function based on limited evidence in a heterozygous subject. CYP2C19*7 is defined by a splicing defect and was described in a subject demonstrating decreased metabolism of mephenytoin based on urine metabolite concentrations after three separate phenotyping studies (10411572). Therefore, consensus among experts was no function based on limited evidence as it was determined the phenotypes containing this allele would be clinically distinct from phenotypes comprising normal function and decreased function alleles.	{"Latino": 0.0, "American": null, "European": 0.0, "Oceanian": null, "East Asian": 0.00011376564, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
777567	359	CYP2C19	*18	\N	Normal function	\N	\N	777566	{17455109,18312490,21325430,25001882}	Limited	\N	CYP2C19*18 is assigned normal function based on limited evidence. Four in vitro studies found CYP2C19*18 demonstrated similar intrinsic clearance compared to wildtype with mephenytoin, omeprazole, and clopidogrel substrates (17455109, 18312490, 25001882, 21325430). Therefore, consensus among experts was normal function based on limited evidence as it was determined the phenotypes containing this allele would be clinically similar to phenotypes comprising normal function alleles.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.019867808, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777533	359	CYP2C19	*1	\N	Normal function	\N	\N	777532	{7487078,32602114,22027650,29325448,33237321}	Definitve	\N	CYP2C19*1 is assigned normal function based on definitive evidence. CYP2C19*1 has been studied for more than 20 years and is the most frequently observed allele (7487078, 32602114). CYP2C19*1 has repeatedly demonstrated normal function with numerous substrates and its association with normal function is well-established (22027650, 29325448, 33237321).	{"Latino": 0.7165527, "American": 0.7921841, "European": 0.62514144, "Oceanian": 0.18709892, "East Asian": 0.59554905, "Near Eastern": 0.67225105, "Central/South Asian": 0.543626, "Sub-Saharan African": 0.55150676, "African American/Afro-Caribbean": 0.54676163}	t
777583	359	CYP2C19	*29	\N	Uncertain function	\N	\N	777582	{26153442,30464555,29098786}	Inadequate	\N	CYP2C19*29 is assigned uncertain function due to inadequate evidence. In vitro studies found CYP2C19*29 demonstrated modest decreased enzyme activity compared to wildtype with mephenytoin, omeprazole, and voriconazole substrates (26153442, 30464555). One in vitro study found increased clearance relative to wild-type for nebivolol (29098786). Consensus was not achieved among experts as data were sparse and conflicting and it was not convincing the magnitude of decreased activity was clinically significant. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.00017527216, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779455	337	TPMT	*30	\N	Unknown function	\N	\N	779454	{23407052,16946561}	\N	\N	\N	{"Latino": 0.0001489, "European": 0.000014929322, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
5175551	32	CYP2D6	*173	\N	\N	\N	\N	5175550	\N	\N	\N	\N	\N	f
777601	342	CYP2C19	*39	\N	Uncertain function	\N	\N	777600	{21692664,21325430}	Inadequate	\N	CYP2C19*39 is assigned uncertain function due to inadequate data. Currently, there is no published evidence describing the function of the CYP2C19*39 allele. One in vitro study for 12718A>C (E122A) determined the metabolic activities towards CEC(3-cyano-7-ethoxycoumarin) O-deethylation and concluded decreased function for this variant (21692664) and another study found the Clint for S-mephenytoin is not significantly different and for omeprazole decreased to 0.27 fold compared to no variant (21325430). Consensus was not achieved among experts as data were sparse and not consistent among substrates. Therefore, uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777669	358	CYP2C9	*1	Normal function	Normal function	\N	1.0	777668	{}	\N	\N	\N	{"Latino": 0.86221933, "American": 0.9118648, "European": 0.79275, "Oceanian": 0.95511305, "East Asian": 0.91534376, "Near Eastern": 0.7818267, "Central/South Asian": 0.7721189, "Sub-Saharan African": 0.7255106, "African American/Afro-Caribbean": 0.8710129}	t
1932986	122	CYP2C9	*76	\N	\N	\N	\N	1932985	\N	\N	\N	\N	\N	f
1932988	122	CYP2C9	*77	\N	\N	\N	\N	1932987	\N	\N	\N	\N	\N	f
1932990	122	CYP2C9	*78	\N	\N	\N	\N	1932989	\N	\N	\N	\N	\N	f
1932992	122	CYP2C9	*79	\N	\N	\N	\N	1932991	\N	\N	\N	\N	\N	f
1932998	122	CYP2C9	*82	\N	\N	\N	\N	1932997	\N	\N	\N	\N	\N	f
1932996	122	CYP2C9	*81	\N	\N	\N	\N	1932995	\N	\N	\N	\N	\N	f
777681	359	CYP2C9	*7	Uncertain function	Uncertain function	\N	n/a	777680	{15284535,23752738}	Inadequate evidence	\N	CYP2C9*7 is assigned uncertain function based on inadequate evidence due to conflicting in vitro data and no clinical data. In an in vitro study CYP2C9*7 demonstrated 47% warfarin clearance compared to wildtype, however, similar tolbutamide clearance compared to wildtype was demonstrated in the same study as well as a separate study (23752738, 15284535). Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": 0.0, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777687	359	CYP2C9	*10	Uncertain function	Uncertain function	\N	n/a	777686	{23752738,28758225,15284535}	Inadequate evidence	\N	CYP2C9*10 is assigned uncertain function based on conflicting in vitro data and no clinical data. Although CYP2C9*10 demonstrated decreased warfarin clearance (23752738) it also demonstrated similar activity with a tolbutamide substrate (15284535) and activity ranging from decreased to normal with 7-ethoxycoumarin, flavanone, and steroid substrates (28758225) compared to wildtype. Therefore, consensus among experts was not achieved and uncertain function was assigned.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779457	337	TPMT	*31	\N	Uncertain function	\N	\N	779456	{23407052,20881512}	\N	\N	\N	{"Latino": 0.0, "European": 0.0000074631716, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777781	359	CYP2C9	*57	Unknown function	Unknown function	\N	n/a	777780	{}	No evidence	\N	CYP2C9*57 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779459	337	TPMT	*32	\N	Uncertain function	\N	\N	779458	{25564374,23252716}	\N	\N	\N	{"Latino": 0.0, "European": 0.000029890569, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777673	359	CYP2C9	*3	Decreased function	No function	\N	0.0	777672	{8809086,29283396,20150829,15637526,12742136,10413320,27179628,25775139,19082874,30088221}	Definitive	\N	CYP2C9*3 is assigned no function based on definitive evidence in homozygous and heterozygous patients and in vitro experimental data. CYP2C9*3 has been studied for more than 20 years and its association with impaired function compared to wildtype is well-established (8809086, 29283396, 20150829, 15637526). This allele was previously assigned "decreased function" but after reevaluation of prior and new evidence, CYP2C9*3 is assigned "no function" because its activity is much more decreased compared to CYP2C9*2 for multiple substrates, resulting in the lowest possible designation for the phenotypes observed in homozygous patients (12742136, 10413320, 27179628, 25775139, 19082874, 30088221). Therefore, consensus among experts was no function with an activity value of 0 based on definitive evidence.	{"Latino": 0.040156696, "American": 0.030054513, "European": 0.07554484, "Oceanian": 0.015575971, "East Asian": 0.037616692, "Near Eastern": 0.08251466, "Central/South Asian": 0.10985958, "Sub-Saharan African": 0.011155454, "African American/Afro-Caribbean": 0.01350592}	f
1933000	122	CYP2C9	*83	\N	\N	\N	\N	1932999	\N	\N	\N	\N	\N	f
1933002	122	CYP2C9	*84	\N	\N	\N	\N	1933001	\N	\N	\N	\N	\N	f
1933004	122	CYP2C9	*85	\N	\N	\N	\N	1933003	\N	\N	\N	\N	\N	f
779461	337	TPMT	*33	\N	Uncertain function	\N	\N	779460	{23252716}	\N	\N	\N	{"Latino": 0.00008729, "European": 0.000039384588, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00003256, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778123	354	CYP2D6	*102	\N	Unknown function	\N	n/a	778122	{}	No Evidence	\N	CYP2D6*102 is assigned unknown function due to no literature describing function of this allele. Therefore, consensus among experts was unknown function due to no available evidence.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": 0.0, "Near Eastern": 0.0033, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
777937	358	CYP2D6	*1	\N	Normal function	\N	1.0	777936	{}	\N	\N	\N	{"Latino": 0.36455274, "American": 0.5164585, "European": 0.28500712, "Oceanian": 0.6170194, "East Asian": 0.25353962, "Near Eastern": 0.24876314, "Central/South Asian": 0.29324096, "Sub-Saharan African": 0.15676576, "African American/Afro-Caribbean": 0.21115738}	t
3685469	150	RYR1	c.3095G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685468	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": 0.0002646, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004829}	f
779463	337	TPMT	*34	\N	Uncertain function	\N	\N	779462	{23252716}	\N	\N	\N	{"Latino": 0.0, "European": 0.0000074709346, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0005848, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779465	337	TPMT	*35	\N	Unknown function	\N	\N	779464	{23252704}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685471	150	RYR1	c.3127C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685470	{35849058}	\N	\N	PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": 0.0002882, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
779467	337	TPMT	*36	\N	Unknown function	\N	\N	779466	{23252704}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685757	150	RYR1	c.9676G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685756	{35849058}	\N	\N	PS4_Sup	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
1609528	261	CYP2D6	*148	\N	Unknown function	\N	n/a	1609527	{}	No Evidence	\N	CYP2D6*148 is assigned unknown function. CYP2D6*148 is defined by four SNPs of which two are found on the normal function *2 allele. 77G>A (R26H) is found on the *43 allele and the normal function *46 allele, and the forth SNP (3854G>A, E480K) is present on the normal function *27 allele. Since the functional impact of 993C>G is unknown, consensus among experts was unknown function.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
1103382	261	CYP2D6	*149	\N	Unknown function	\N	n/a	1103381	{}	No Evidence	\N	CYP2D6*149 is assigned unknown function. CYP2D6*149 is defined by six SNPs of which five are found on the decreased function *29 allele. 993C>G (D97E) has only been found on *149. Since the functional impact of 993C>G is unknown, consensus among experts was unknown function.	{"Latino": null, "American": 0.0, "European": 0.0, "Oceanian": null, "East Asian": 0.001, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0026, "African American/Afro-Caribbean": 0.0}	f
2091237	259	CYP2D6	*152	\N	Unknown function	\N	n/a	2091236	{}	No Evidence	\N	CYP2D6*152 is assigned unknown function due to no literature describing function of this allele. CYP2D6*152 is defined by a single SNP that is not present in any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
2091239	259	CYP2D6	*153	\N	Unknown function	\N	n/a	2091238	{}	No Evidence	\N	CYP2D6*153 is assigned unknown function due to no literature describing function of this allele. CYP2D6*153 is defined by one SNP that is not found on any other star allele.	{"Latino": null, "American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00052, "African American/Afro-Caribbean": null}	f
778332	352	DPYD	c.61C>T	No function	No function	\N	0.0	778331	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778330	352	DPYD	c.46C>G	Normal function	Normal function	\N	1.0	778329	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013740047, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778334	352	DPYD	c.62G>A	Normal function	Normal function	\N	1.0	778333	{24648345}	Moderate	This rsID was orginially described as part of the *12 allele but based on more recent data this designation has changed.	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000037312337, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778340	346	DPYD	c.313G>A	Normal function	Normal function	\N	1.0	778339	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0000136468225, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778342	346	DPYD	c.343A>G	Normal function	Normal function	\N	1.0	778341	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013736458, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778344	346	DPYD	c.451A>G	Normal function	Normal function	\N	1.0	778343	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.011174424, "European": 0.000013283231, "East Asian": 0.00035729833, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778346	346	DPYD	c.496A>G	Normal function	Normal function	\N	1.0	778345	{24648345}	Moderate	\N	5-fluorouracil (in vitro)	{"Latino": 0.036260653, "European": 0.11037259, "East Asian": 0.015562055, "Central/South Asian": 0.085167445, "Sub-Saharan African": 0.03082738, "African American/Afro-Caribbean": 0.03187898}	f
778348	346	DPYD	c.498G>A	Normal function	Normal function	\N	1.0	778347	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778328	214	DPYD	Reference	Normal function	Normal function	\N	1.0	778327	{38129972}	\N	\N	Individual patients have been reported (PMID 38129972) to carry only one of the two SNPs in the HapB3 haplotype (i.e., c.1236G>A without c.1129-5923C>G), suggesting that the two variants are not in complete linkage disequilibrium. To address this, c.1129-5923C>G SNP is listed separately as this is likely the causal variant leading to decreased function. The HapB3 haplotype definition was also retained for cases where only the c.1236G>A variant is tested (e.g. whole exome sequencing). While CPIC recommends to directly test the causal SNP if possible, in cases where only c.1236G>A is tested or results are available for, it should be clearly stated in the test report that "decreased function" was inferred by detecting the exonic tag SNP, and disclose that in rare cases, the causal decreased function variant c.1129-5923C>G may not be present despite having this tag SNP.	\N	f
778456	340	DPYD	c.2303C>A	Normal function	Normal function	\N	1.0	778455	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0018162305, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778458	340	DPYD	c.2336C>A	Normal function	Normal function	\N	1.0	778457	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013281931, "East Asian": 0.0010211836, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778460	340	DPYD	c.2482G>A	Normal function	Normal function	\N	1.0	778459	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0001131909, "East Asian": 0.0, "Central/South Asian": 0.000089115194, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778462	340	DPYD	c.2582A>G	Normal function	Normal function	\N	1.0	778461	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00029061755, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778464	340	DPYD	c.2623A>C	Normal function	Normal function	\N	1.0	778463	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.00028225806, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778466	340	DPYD	c.2639G>T	No function	No function	\N	0.0	778465	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.00070, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778468	340	DPYD	c.2656C>T	Normal function	Normal function	\N	1.0	778467	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00010, "European": 0.00036403185, "East Asian": 0.00010, "Central/South Asian": 0.001, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778470	340	DPYD	c.2657G>A (*9B)	Normal function	Normal function	\N	1.0	778469	{24648345}	Moderate	This rsID, when combined with rs1801265 makes up DPYD*9B	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.000013373986, "East Asian": 0.00032379513, "Central/South Asian": 0.00016493561, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
778472	340	DPYD	c.2846A>T	Decreased function	Decreased function	\N	0.5	778471	{24648345}	Strong	\N	5-fluorouracil (in vitro)	{"Latino": 0.0020888615, "European": 0.0037400308, "East Asian": 0.0, "Central/South Asian": 0.000640429, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0031082802}	f
778474	340	DPYD	c.2872A>G	No function	No function	\N	0.0	778473	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.0, "European": 0.00001364737, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778476	340	DPYD	c.2915A>G	Normal function	Normal function	\N	1.0	778475	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": 0.00008924864, "European": 0.0, "East Asian": 0.0, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.00922293}	f
778478	340	DPYD	c.2921A>T	Normal function	Normal function	\N	1.0	778477	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778480	340	DPYD	c.2933A>G	No function	No function	\N	0.0	778479	{24648345}	Limited	\N	5-fluorouracil (in vitro)	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
778715	311	G6PD	202G>A_376A>G_1264C>G	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778714	{18677765,22293322}	limited	\N	Function assigned based on the WHO recommendations and in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778753	311	G6PD	A	IV/Normal	IV/Normal	\N	\N	778752	{1303173,22293322,32387609,3446582}	moderate	\N	Although originally classified as a WHO class III/decreased function variant (3446582, 22293322), recent studies show that the catalytic activity and structural stability of G6PD A is similar to that of the WT enzyme (32387609, 1303173). Therefore, consensus among experts was IV/Normal function due to moderate evidence.	{"Latino": 0.014873203, "European": 0.00054859073, "East Asian": 0.0, "Central/South Asian": 0.0007337911, "African American/Afro-Caribbean": 0.3183956}	f
778703	311	G6PD	Amazonia	II/Deficient	II/Deficient	\N	\N	778702	{22293322,12367584}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778847	311	G6PD	Sugao	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778846	{22293322,11594515}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
778983	311	G6PD	Sumare	I/Deficient with CNSHA	I/Deficient with CNSHA	\N	\N	778982	{22293322,9298828}	limited	\N	Function assigned based on the WHO recommendations included in PMID 22293322.	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null, "African American/Afro-Caribbean": null}	f
828096	214	MT-RNR1	Reference	\N	Normal risk of aminoglycoside-induced hearing loss	\N	\N	828095	{27654872}	\N	\N	27654872: N/A	\N	f
3827893	132	MT-RNR1	m.951G>A	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827892	{18830133,18851951}	Inadequate evidence	\N	MT-RNR1 951G>A is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in two studies (18830133, 18851951). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.012948994, "East Asian": 0.003374, "Near Eastern": 0.0, "Central/South Asian": 0.0006698, "Sub-Saharan African": null}	f
3827905	132	MT-RNR1	m.1095T>C	\N	increased risk of aminoglycoside-induced hearing loss	\N	\N	3827904	{11079536,11313749,15555598,15841390,16875663,21205314}	Moderate	\N	MT-RNR1 1095T>C is assigned an increased risk of aminoglycoside-induced hearing loss based on moderate evidence. Screening of individuals or probands of individuals with aminoglycoside-hearing looss identified 1095T>C in a number of cases (11079536, 11313749, 15555598, 15841390, 16875663, 21205314). Therefore, consensus among experts was this variant is associated with increased risk of aminoglycoside-induced hearing loss based on moderate evidence.	{"European": 0.00057115, "East Asian": 0.001464755, "Near Eastern": 0.0, "Central/South Asian": 0.0006698, "Sub-Saharan African": 0.0}	f
779099	121	NUDT15	*18	\N	\N	\N	\N	779098	\N	\N	\N	\N	\N	f
779101	121	NUDT15	*19	\N	\N	\N	\N	779100	\N	\N	\N	\N	\N	f
3827895	132	MT-RNR1	m.960C>del	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827894	{18851951}	Inadequate evidence	\N	MT-RNR1 960C>del is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. Screening of individuals with aminoglycoside-hearing loss identified this variant in one study (18851951). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3827897	132	MT-RNR1	m.961T>G	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827896	{18830133}	Inadequate evidence	\N	MT-RNR1 961T<G is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. One report of normal hearing after aminoglycoside hearing loss in an invidual carrying this variant (18830133). Therefore, consensus among experts was uncertain risk of aminoglycoside-induced hearing loss due to insufficient evidence.	{"European": 0.0136944335, "East Asian": 0.0, "Near Eastern": 0.004947, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0}	f
3827899	132	MT-RNR1	m.961T>del	\N	uncertain risk of aminoglycoside-induced hearing loss	\N	\N	3827898	{15917167}	Inadequate evidence	\N	MT-RNR1 961T>del is assigned an uncertain risk of aminoglycoside-induced hearing loss based on inadequate evidence. In one study, 961T>del was detected in subjects in all four cohorts (no statistically significant difference in allele frequency between the groups). Pedigree analysis showed that T961del and the hearing loss phenotype did not co-segregate (15917167). Therefore, consensus among experts is that there is uncertain risk of aminoglycoside-induced hearing loss associated with this variant.	{"European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779073	339	NUDT15	*5	\N	Uncertain function	\N	\N	779072	{26878724}	\N	27.7 Vmax/Km; *3/*5 patient has same intolerance to MP as *3/*3 patient	\N	{"Latino": 0.0, "European": 0.000007794928, "East Asian": 0.01108, "Central/South Asian": 0.0004482}	f
779075	339	NUDT15	*6	\N	Uncertain function	\N	\N	779074	{26878724}	\N	14.9 Vmax/Km	\N	{"Latino": 0.0015, "European": 0.003, "East Asian": 0.013, "Central/South Asian": 0.002}	f
779077	339	NUDT15	*7	\N	Uncertain function	\N	\N	779076	{28659275}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0005654, "Central/South Asian": 0.0}	f
779079	339	NUDT15	*8	\N	Uncertain function	\N	\N	779078	{28659275}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Central/South Asian": null}	f
779081	339	NUDT15	*9	\N	No function	\N	\N	779080	{28659275,30728528}	\N	\N	\N	{"Latino": 0.000259413, "European": 0.0018290388, "East Asian": 0.0, "Central/South Asian": 0.000494936}	f
779469	337	TPMT	*37	\N	Uncertain function	\N	\N	779468	{24710034}	\N	\N	\N	{"Latino": 0.00008934, "European": 0.00003731825, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
3685589	150	RYR1	c.6961A>G	Benign	Normal function	\N	n/a	3685588	{35849058}	\N	\N	PM1, BS1, BS2, BS3_Sup	{"Latino": 0.00006545, "American": null, "European": 0.00091547164, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0002895}	f
3685309	150	RYR1	c.38T>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685308	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685311	150	RYR1	c.51_53del	Variant of uncertain significance	Uncertain function	\N	n/a	3685310	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685313	150	RYR1	c.97A>G	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685312	{35849058}	\N	\N	PS2_PM6_Sup, PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779151	338	RYR1	c.103T>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779150	{33767344}	\N	\N	PS4_Mod, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685317	150	RYR1	c.119G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685316	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685327	150	RYR1	c.178G>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685326	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779149	214	RYR1	Reference	Benign	Normal function	\N	n/a	779148	{}	\N	\N	\N	\N	f
3685629	150	RYR1	c.7099G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685628	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": 0.00006543, "American": null, "European": 0.00004411, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685631	150	RYR1	c.7112A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685630	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685633	150	RYR1	c.7123G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685632	{33767344}	\N	\N	PS4_Sup, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779205	338	RYR1	c.7124G>C	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779204	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP1_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685637	150	RYR1	c.7199A>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685636	{35849058}	\N	\N	PM1	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004831}	f
3685639	150	RYR1	c.7210G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685638	{35849058}	\N	\N	PM1, PP1	{"Latino": 0.00006544, "American": null, "European": 0.00001471, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.0000483}	f
779207	338	RYR1	c.7282G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	779206	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685643	150	RYR1	c.7291G>A	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685642	{35849058}	\N	\N	PS4_Mod, PM1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004827}	f
3685645	150	RYR1	c.7291G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685644	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5_Sup, PP1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685647	150	RYR1	c.7292A>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685646	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779209	338	RYR1	c.7300G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779208	{33767344}	\N	\N	PS3, PS4, PM1, PP1_St, PP3_Mod, BS2	{"Latino": null, "American": null, "European": 0.00008819, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00004825}	f
779211	338	RYR1	c.7304G>A	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779210	{33767344}	\N	\N	PS3_Mod, PS4, PM1, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685653	150	RYR1	c.7304G>T	Likely Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685652	{35849058}	\N	\N	PS4_Mod, PM1_Sup, PM5, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685655	150	RYR1	c.7307G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685654	{35849058}	\N	\N	PS4_Sup, PM1, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685665	150	RYR1	c.7355G>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685664	{35849058}	\N	\N	PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779215	338	RYR1	c.7360C>T	Pathogenic	Malignant Hyperthermia associated	\N	n/a	779214	{33767344}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PM5, PP1, PP3_Mod	{"Latino": null, "American": null, "European": 0.0000147, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002413}	f
3685763	150	RYR1	c.9848G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685762	{35849058}	\N	\N	None	{"Latino": 0.00006545, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685767	150	RYR1	c.9868G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685766	{35849058}	\N	\N	None	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": 0.00002415}	f
3685859	150	RYR1	c.12689T>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685858	{35849058}	\N	\N	PS4_Mod, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685867	150	RYR1	c.12881C>T	Benign	Normal function	\N	n/a	3685866	{33767344}	\N	\N	BA1	{"Latino": 0.0009516, "American": null, "European": 0.0002127, "East Asian": null, "Near Eastern": 0.006452, "Central/South Asian": null, "Sub-Saharan African": 0.01471}	f
3685945	150	RYR1	c.14567C>G	Variant of uncertain significance	Uncertain function	\N	n/a	3685944	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685949	150	RYR1	c.14581C>T	Variant of uncertain significance	Uncertain function	\N	n/a	3685948	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PM5_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779243	338	RYR1	c.14582G>A	Variant of uncertain significance	Uncertain function	\N	n/a	779242	{33767344}	\N	\N	PS3_Mod, PS4_Sup, PM1_Sup, PP3_Mod, BS2	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685951	150	RYR1	c.14627A>G	Pathogenic	Malignant Hyperthermia associated	\N	n/a	3685950	{35849058}	\N	\N	PS3_Mod, PS4_Mod, PM1_Sup, PP1_St, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685953	150	RYR1	c.14639T>C	Variant of uncertain significance	Uncertain function	\N	n/a	3685952	{35849058}	\N	\N	PS4_Sup, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685955	150	RYR1	c.14678G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685954	{35849058}	\N	\N	PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
3685957	150	RYR1	c.14680G>A	Variant of uncertain significance	Uncertain function	\N	n/a	3685956	{35849058}	\N	\N	PS3_Mod, PM1_Sup, PP3_Mod	{"Latino": null, "American": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null}	f
779332	337	SLCO1B1	*28	\N	Uncertain function	\N	\N	779331	{22147369}	Inadequate	\N	SLCO1B1*28 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance (22147369). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779280	338	SLCO1B1	*2	\N	Uncertain function	\N	\N	779279	{11477075,12490595}	Inadequate	\N	SLCO1B1*2 is assigned uncertain function based on in vitro studies demonstrating reduced uptake of estrone sulfate, estradiol 17beta-d-glucuronide and rifampin (11477075, 12490595), but no clinical data. Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779306	337	SLCO1B1	*15	Decreased function	No function	\N	\N	779305	{15970799,21245207,25350695,31220337}	Definitive	\N	SLCO1B1*15 is assigned no function based on strong evidence in heterozygous and homozygous patients, and in vitro studies. SLCO1B1*15 has been studied for more than 15 years and its association with impaired function compared to wildtype is well-established (21245207, 25350695, 31220337). Though in vitro, the *15 allele may have more function than the *5 allele, analyses of pharmacokinetics and statin-associated muscle symptoms are usually performed on the rs4149056 variant included in the *5 and *15 alleles, so the same functional status was assigned for each of these alleles.	{"American": 0.24, "European": 0.15017298, "Oceanian": 0.0, "East Asian": 0.12453574, "Near Eastern": 0.15, "Central/South Asian": 0.065170676, "Sub-Saharan African": 0.027934482, "African American/Afro-Caribbean": 0.01}	f
779340	337	SLCO1B1	*32	\N	Uncertain function	\N	\N	779339	{22147369}	Inadequate	\N	SLCO1B1*32 is assigned uncertain function based on no in vitro evidence and limited clinical data. One clinical study showed no statistical difference in methotrexate clearance for one heterozygous patient (22147369). Therefore, consensus among experts was uncertain function due to inadequate evidence.	{"American": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779395	337	TPMT	*2	\N	No function	\N	\N	779394	{786267,16220112,9177237,18708949,8644731}	\N	\N	\N	{"Latino": 0.0034579393, "European": 0.0020584913, "East Asian": 0.00008490133, "Near Eastern": 0.007194246, "Central/South Asian": 0.00022537795, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0053066667}	f
779397	337	TPMT	*3A	\N	No function	\N	\N	779396	{16220112,9177237,18708949,8644731,8561894}	\N	\N	\N	{"Latino": 0.041727107, "European": 0.033840433, "East Asian": 0.00030599828, "Near Eastern": 0.0130693065, "Central/South Asian": 0.0042245653, "Sub-Saharan African": 0.0016235898, "African American/Afro-Caribbean": 0.008}	f
779399	337	TPMT	*3B	\N	No function	\N	\N	779398	{16220112,18708949,8644731,8561894}	\N	\N	\N	{"Latino": 0.002382896, "European": 0.0028341785, "East Asian": 0.0, "Near Eastern": 0.004721087, "Central/South Asian": 0.0017308706, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.0}	f
779401	337	TPMT	*3C	\N	No function	\N	\N	779400	{16220112,18708949,8644731,8561894}	\N	\N	\N	{"Latino": 0.005828808, "European": 0.0049218307, "East Asian": 0.01636903, "Near Eastern": 0.009404483, "Central/South Asian": 0.011216759, "Sub-Saharan African": 0.052884888, "African American/Afro-Caribbean": 0.024}	f
779403	337	TPMT	*4	\N	No function	\N	\N	779402	{9246020}	\N	\N	\N	{"Latino": 0.0, "European": 0.000058889815, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779405	337	TPMT	*5	\N	Uncertain function	\N	\N	779404	{18708949,16220112,9246020}	\N	\N	\N	{"Latino": null, "European": 0.0, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779407	337	TPMT	*6	\N	Uncertain function	\N	\N	779406	{18708949,16220112,9246020}	\N	\N	\N	{"Latino": 0.00002916, "European": 0.0, "East Asian": 0.0022042317, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.0}	f
779409	337	TPMT	*7	\N	Uncertain function	\N	\N	779408	{18708949,16220112,9246020,13679074}	\N	\N	\N	{"Latino": 0.0, "European": 0.000015974565, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779411	337	TPMT	*8	\N	Uncertain function	\N	\N	779410	{18708949,16220112,27564568,9931346}	\N	\N	\N	{"Latino": 0.001191, "European": 0.000104547704, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.00009375629, "Sub-Saharan African": 0.024, "African American/Afro-Caribbean": 0.00648}	f
779413	337	TPMT	*9	\N	Uncertain function	\N	\N	779412	{18708949,18602085,15226673,16220112}	\N	\N	\N	{"Latino": 0.0001163, "European": 0.0005553769, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": null}	f
779415	337	TPMT	*10	\N	Uncertain function	\N	\N	779414	{18708949,13679074,10833476,16220112}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779481	121	TPMT	*43	\N	\N	\N	\N	779480	\N	\N	\N	\N	\N	f
779483	121	TPMT	*44	\N	\N	\N	\N	779482	\N	\N	\N	\N	\N	f
779471	337	TPMT	*38	\N	Unknown function	\N	\N	779470	{25564374}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "East Asian": 0.0004059, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779473	337	TPMT	*39	\N	Uncertain function	\N	\N	779472	{27703193}	\N	\N	\N	{"Latino": 0.0, "European": 0.000006562125, "East Asian": 0.000106, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779475	337	TPMT	*40	\N	Uncertain function	\N	\N	779474	{27564568}	\N	\N	\N	{"Latino": 0.0002034, "European": 0.00005903421, "East Asian": 0.0, "Near Eastern": null, "Central/South Asian": 0.0, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779477	337	TPMT	*41	\N	No function	\N	\N	779476	{28462921}	\N	\N	\N	{"Latino": null, "European": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779491	338	UGT1A1	*6	\N	Decreased function	\N	\N	779490	{7715297,8280139,15179405,11906189}	\N	\N	15179405: SNS-38 (in vivo) - based on protein quantification; 11906189: bilirubin (in vivo) - based on protein quantification	{"Latino": 0.011556196, "European": 0.007872763, "Oceanian": null, "East Asian": 0.1463455, "Near Eastern": 0.0, "Central/South Asian": 0.044862628, "Sub-Saharan African": 0.0, "African American/Afro-Caribbean": 0.003986928}	f
779493	338	UGT1A1	*27	\N	Decreased function	\N	\N	779492	{7565971,7715297,15179405}	\N	\N	7715297: bilirubin (in vivo) - based on protein quantification; 15179405: SNS-38 (in vivo) - based on protein quantification	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779495	338	UGT1A1	*28	\N	Decreased function	\N	\N	779494	{9653159,15179405}	\N	\N	15179405: SNS-38 (in vivo) - based on protein quantification	{"Latino": 0.4, "European": 0.31647462, "Oceanian": 0.043209877, "East Asian": 0.14802907, "Near Eastern": 0.30762586, "Central/South Asian": 0.41421428, "Sub-Saharan African": 0.40004247, "African American/Afro-Caribbean": 0.37335765}	f
779497	337	UGT1A1	*36	\N	Increased function	\N	\N	779496	{9653159}	\N	\N	\N	{"Latino": 0.0, "European": 0.0, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.007933025, "Central/South Asian": 0.0, "Sub-Saharan African": 0.069839545, "African American/Afro-Caribbean": 0.084452555}	f
779499	337	UGT1A1	*37	\N	Decreased function	\N	\N	779498	{9653159}	\N	\N	\N	{"Latino": 0.0, "European": 0.00068587105, "Oceanian": 0.0, "East Asian": 0.0, "Near Eastern": 0.004330254, "Central/South Asian": 0.0, "Sub-Saharan African": 0.037069373, "African American/Afro-Caribbean": 0.057007298}	f
779501	337	UGT1A1	*80	\N	Unknown function	\N	\N	779500	{}	\N	UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. However, the function of the *80 allele alone, in the absence of *28 or *37, is uncertain. If a patient is only tested for *80, decreased function may be inferred.	\N	{"Latino": 0.3827317, "European": 0.31424528, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": 0.4503211}	f
779503	337	UGT1A1	*80+*28	\N	Decreased function	\N	\N	779502	{21309756,19414484,22085899,19419973}	\N	UGT1A1*80 is in very high linkage disequilibrium with *28 and *37. However, the function of the *80 allele alone, in the absence of *28 or *37, is uncertain. If a patient is only tested for *80, decreased function may be inferred.	\N	{"Latino": null, "European": null, "Oceanian": null, "East Asian": null, "Near Eastern": null, "Central/South Asian": null, "Sub-Saharan African": null, "African American/Afro-Caribbean": null}	f
779489	339	UGT1A1	*1	\N	Normal function	\N	\N	779488	{7565971,9653159,15179405}	\N	\N	15179405: SNS-38 (in vivo) - based on protein quantification	{"Latino": 0.20571208, "European": 0.36072147, "Oceanian": 0.95679015, "East Asian": 0.7056254, "Near Eastern": 0.6801109, "Central/South Asian": 0.5409231, "Sub-Saharan African": 0.4930486, "African American/Afro-Caribbean": 0.03087449}	t
\.


--
-- Data for Name: allele_definition; Type: TABLE DATA; Schema: cpic; Owner: -
--

COPY cpic.allele_definition (id, version, genesymbol, name, pharmvarid, matchesreferencesequence, structuralvariation) FROM stdin;
9000	1	HLA-A	*31:01	\N	f	f
9001	1	HLA-B	*15:02	\N	f	f
9002	1	HLA-B	*57:01	\N	f	f
9003	1	HLA-B	*58:01	\N	f	f
6355217	6	CFTR	A349V	\N	f	f
6355227	6	CFTR	D192G	\N	f	f
777478	166	CYP2B6	*30	PV00770	f	t
777480	171	CYP2B6	*31	PV00771	f	f
6355231	6	CFTR	D924N	\N	f	f
777333	96	CFTR	E56K	\N	f	f
778184	171	CYP2D6	*133	PV00688	f	f
777678	171	CYP2C9	*6	PV00542	f	f
778190	171	CYP2D6	*136	PV00691	f	f
777486	171	CYP2B6	*34	PV00774	f	f
777490	171	CYP2B6	*36	PV00776	f	f
777492	171	CYP2B6	*37	PV00777	f	f
777494	171	CYP2B6	*38	PV00778	f	f
2899154	85	CYP2B6	*45	PV02278	f	f
2899156	85	CYP2B6	*46	PV02280	f	f
2899158	85	CYP2B6	*47	PV02282	f	f
2899162	85	CYP2B6	*49	PV02286	f	f
5997308	18	CYP2B6	*50	PV02841	f	f
777432	171	CYP2B6	*6	PV00744	f	f
777580	171	CYP2C19	*28	PV00622	f	f
777436	171	CYP2B6	*8	PV00746	f	f
6235065	14	CYP2C19	*41	PV02896	f	f
777578	171	CYP2C19	*26	PV00621	f	f
777794	171	CYP2C9	*64	PV01419	f	f
777592	171	CYP2C19	*34	PV02143	f	f
777450	171	CYP2B6	*15	PV00753	f	f
777690	171	CYP2C9	*12	PV00548	f	f
777454	171	CYP2B6	*18	PV00756	f	f
1933003	121	CYP2C9	*85	PV01798	f	f
777716	171	CYP2C9	*25	PV00561	f	f
778178	171	CYP2D6	*130	PV00685	f	f
777746	171	CYP2C9	*40	PV00576	f	f
777776	171	CYP2C9	*55	PV00591	f	f
777460	171	CYP2B6	*21	PV00759	f	f
777680	171	CYP2C9	*7	PV00543	f	f
1406321	141	CYP2C9	*75	PV01742	f	f
778188	171	CYP2D6	*135	PV00690	f	f
778200	171	CYP2D6	*141	PV02389	f	f
777704	171	CYP2C9	*19	PV00555	f	f
778202	171	CYP2D6	*142	PV01434	f	f
778208	171	CYP2D6	*145	PV01437	f	f
1103377	153	CYP2D6	*146	PV01717	f	f
777732	171	CYP2C9	*33	PV00569	f	f
1103381	153	CYP2D6	*149	PV01730	f	f
778182	171	CYP2D6	*132	PV00687	f	f
777468	171	CYP2B6	*25	PV00763	f	f
2677013	93	CYP2D6	*151	PV02194	f	f
778180	171	CYP2D6	*131	PV00686	f	f
2091236	115	CYP2D6	*152	PV02155	f	f
2091238	115	CYP2D6	*153	PV02157	f	f
2091242	115	CYP2D6	*155	PV01936	f	f
2091246	115	CYP2D6	*157	PV01947	f	f
6355241	6	CFTR	E822K	\N	f	f
6355245	6	CFTR	F311del	\N	f	f
6355247	6	CFTR	F311L	\N	f	f
6355249	6	CFTR	F508C	\N	f	f
6355257	6	CFTR	G178E	\N	f	f
6970385	4	SLCO1B1	*55	PV03018	f	f
6970389	4	SLCO1B1	*57	PV03022	f	f
6355215	6	CFTR	A234D	\N	f	f
778192	171	CYP2D6	*137	PV00692	f	f
778196	171	CYP2D6	*139	PV00728	f	f
778206	171	CYP2D6	*144	PV01436	f	f
6355261	6	CFTR	G194R(G>A)	\N	f	f
1103379	153	CYP2D6	*147	PV01805	f	f
6355263	6	CFTR	G194R(G>C)	\N	f	f
777456	171	CYP2B6	*19	PV00757	f	f
777462	171	CYP2B6	*22	PV00760	f	f
6355265	6	CFTR	G314E	\N	f	f
6355271	6	CFTR	G576A	\N	f	f
777464	171	CYP2B6	*23	PV00761	f	f
777482	171	CYP2B6	*32	PV00772	f	f
777766	171	CYP2C9	*50	PV00586	f	f
1609527	134	CYP2D6	*148	PV01745	f	f
777466	171	CYP2B6	*24	PV00762	f	f
777470	171	CYP2B6	*26	PV00764	f	f
6355273	6	CFTR	G970D	\N	f	f
777474	171	CYP2B6	*28	PV00766	f	f
6355279	6	CFTR	G1249R(G>A)	\N	f	f
6355281	6	CFTR	G1249R(G>C)	\N	f	f
6355285	6	CFTR	H939R	\N	f	f
6355287	6	CFTR	H1375P	\N	f	f
6355289	6	CFTR	I148T	\N	f	f
6355293	6	CFTR	I807M	\N	f	f
6355295	6	CFTR	I1027T	\N	f	f
6355297	6	CFTR	I1139V	\N	f	f
6355335	6	CFTR	R75Q	\N	f	f
777484	171	CYP2B6	*33	PV00848	f	f
7094208	1	MT-RNR1	m.930G>A	\N	f	f
6970387	4	SLCO1B1	*56	PV03020	f	f
6355303	6	CFTR	L320V	\N	f	f
6355305	6	CFTR	L967S	\N	f	f
6355307	6	CFTR	L997F(G>C)	\N	f	f
6355309	6	CFTR	L997F(G>T)	\N	f	f
6355311	6	CFTR	L1480P	\N	f	f
6355313	6	CFTR	M152V	\N	f	f
6355315	6	CFTR	M952I(G>A)	\N	f	f
6355319	6	CFTR	M952I(G>T)	\N	f	f
6355321	6	CFTR	M952T	\N	f	f
777357	96	CFTR	P67L	\N	f	f
6355325	6	CFTR	Q237E	\N	f	f
6970391	4	SLCO1B1	*58	PV03024	f	f
6355327	6	CFTR	Q237H	\N	f	f
6355329	6	CFTR	Q359R	\N	f	f
6355331	6	CFTR	Q1291R	\N	f	f
6355339	6	CFTR	R117G	\N	f	f
6355343	6	CFTR	R117L	\N	f	f
6355345	6	CFTR	R117P	\N	f	f
6355347	6	CFTR	R170H	\N	f	f
6355351	6	CFTR	R347L	\N	f	f
6355355	6	CFTR	R553Q	\N	f	f
6355357	6	CFTR	R668C	\N	f	f
6355359	6	CFTR	R792G	\N	f	f
6355361	6	CFTR	R933G	\N	f	f
777434	171	CYP2B6	*7	PV00745	f	f
777438	171	CYP2B6	*9	PV00747	f	f
777442	171	CYP2B6	*11	PV00749	f	f
777476	166	CYP2B6	*29	PV00767	f	t
777958	171	CYP2D6	*12	PV00437	f	f
777444	171	CYP2B6	*12	PV00750	f	f
6355213	6	CFTR	A120T	\N	f	f
777448	171	CYP2B6	*14	PV00752	f	f
777452	171	CYP2B6	*17	PV00755	f	f
2091244	115	CYP2D6	*156	PV01943	f	f
777440	171	CYP2B6	*10	PV00748	f	f
778066	171	CYP2D6	*69	PV00491	f	f
779337	164	SLCO1B1	*31	PV01644	f	f
2784578	89	CYP4F2	*7	PV02227	f	f
6235322	14	CYP2C9	*87	PV02931	f	f
778064	166	CYP2D6	*68	PV00490	f	t
2677011	93	CYP2D6	*150	PV02524	f	f
5998162	18	CYP2D6	*180	PV02813	f	f
2091252	115	CYP2D6	*160	PV01958	f	f
5998170	18	CYP2D6	*184	PV02821	f	f
2091254	115	CYP2D6	*161	PV01963	f	f
2091256	115	CYP2D6	*162	PV01967	f	f
3318585	70	CYP4F2	*8	PV02314	f	f
778056	171	CYP2D6	*62	PV00486	f	f
3318587	70	CYP4F2	*9	PV02316	f	f
2677047	93	CYP2D6	*168	PV02161	f	f
2091258	115	CYP2D6	*163	PV01969	f	f
777988	171	CYP2D6	*28	PV00452	f	f
2677049	93	CYP2D6	*169	PV02163	f	f
2677039	93	CYP2D6	*164	PV02199	f	f
778014	171	CYP2D6	*41	PV00465	f	f
779307	164	SLCO1B1	*16	PV01633	f	f
2677051	93	CYP2D6	*170	PV02165	f	f
2677043	93	CYP2D6	*166	PV02203	f	f
778016	171	CYP2D6	*42	PV02297	f	f
778018	171	CYP2D6	*43	PV00467	f	f
778092	171	CYP2D6	*87	PV00504	f	f
2677053	93	CYP2D6	*171	PV02189	f	f
779315	164	SLCO1B1	*20	PV01635	f	f
779339	164	SLCO1B1	*32	PV01645	f	f
778048	171	CYP2D6	*58	PV00482	f	f
778050	171	CYP2D6	*59	PV00483	f	f
777946	171	CYP2D6	*6	PV00431	f	f
778054	166	CYP2D6	*61	PV00485	f	t
778068	171	CYP2D6	*70	PV00492	f	f
778058	166	CYP2D6	*63	PV00487	f	t
778060	171	CYP2D6	*64	PV00488	f	f
778072	171	CYP2D6	*72	PV00494	f	f
778084	171	CYP2D6	*83	PV02385	f	f
778062	171	CYP2D6	*65	PV00489	f	f
778076	171	CYP2D6	*74	PV00496	f	f
778088	171	CYP2D6	*85	PV00502	f	f
777950	171	CYP2D6	*8	PV00433	f	f
778070	171	CYP2D6	*71	PV00493	f	f
778108	171	CYP2D6	*95	PV00512	f	f
778074	171	CYP2D6	*73	PV00495	f	f
778114	171	CYP2D6	*98	PV00515	f	f
778078	171	CYP2D6	*75	PV00497	f	f
2091250	115	CYP2D6	*159	PV01954	f	f
778082	171	CYP2D6	*82	PV00499	f	f
5175550	32	CYP2D6	*173	PV02498	f	f
778086	171	CYP2D6	*84	PV00501	f	f
778096	171	CYP2D6	*89	PV00506	f	f
778090	171	CYP2D6	*86	PV00503	f	f
778112	171	CYP2D6	*97	PV00514	f	f
778094	171	CYP2D6	*88	PV00505	f	f
3318593	70	CYP4F2	*12	PV02322	f	f
777952	171	CYP2D6	*9	PV00434	f	f
3318601	70	CYP4F2	*16	PV02312	f	t
777978	171	CYP2D6	*23	PV00447	f	f
5175552	32	CYP2D6	*174	PV02500	f	f
778020	171	CYP2D6	*44	PV00468	f	f
5409119	28	CYP2D6	*176	PV02519	f	f
778024	171	CYP2D6	*46	PV00470	f	f
779343	164	SLCO1B1	*34	PV01647	f	f
778026	171	CYP2D6	*47	PV00471	f	f
779321	164	SLCO1B1	*23	PV01636	f	f
778030	171	CYP2D6	*49	PV00473	f	f
779323	164	SLCO1B1	*24	PV01637	f	f
778032	171	CYP2D6	*50	PV00474	f	f
4058604	47	CYP4F2	*17	PV02391	f	f
778036	171	CYP2D6	*52	PV00476	f	f
5998172	18	CYP2D6	*185	PV02823	f	f
778042	171	CYP2D6	*55	PV00479	f	f
778022	171	CYP2D6	*45	PV00469	f	f
779347	164	SLCO1B1	*36	PV01648	f	f
779080	170	NUDT15	*9	PV01605	f	f
777758	171	CYP2C9	*46	PV00582	f	f
779325	164	SLCO1B1	*25	PV01638	f	f
778028	171	CYP2D6	*48	PV00472	f	f
778240	170	CYP4F2	*2	PV02213	f	f
778034	171	CYP2D6	*51	PV00475	f	f
778038	171	CYP2D6	*53	PV00477	f	f
779297	164	SLCO1B1	*11	PV01628	f	f
778040	171	CYP2D6	*54	PV00478	f	f
778044	171	CYP2D6	*56	PV00480	f	f
1002693	155	SLCO1B1	*41	PV01653	f	f
777948	171	CYP2D6	*7	PV00432	f	f
7096175	1	CYP2D6	*68+*4	\N	f	f
778080	171	CYP2D6	*81	PV00498	f	f
3318595	70	CYP4F2	*13	PV02324	f	f
779303	164	SLCO1B1	*14	PV01631	f	f
779327	164	SLCO1B1	*26	PV01639	f	f
779331	164	SLCO1B1	*28	PV01641	f	f
779283	164	SLCO1B1	*4	PV01621	f	f
7096177	1	CYP2D6	*36+*10	\N	f	f
1002695	155	SLCO1B1	*42	PV01654	f	f
7096179	1	CYP2D6	*13+*1	\N	f	f
5175554	32	CYP2D6	*175	PV02502	f	f
1002697	155	SLCO1B1	*43	PV01655	f	f
778186	171	CYP2D6	*134	PV00689	f	f
778204	171	CYP2D6	*143	PV01435	f	f
6355367	6	CFTR	R1162L	\N	f	f
1357091	143	SLCO1B1	*48	PV01732	f	t
778052	171	CYP2D6	*60	PV00484	f	f
777682	171	CYP2C9	*8	PV00544	f	f
2677045	93	CYP2D6	*167	PV02159	f	f
7096182	1	CYP2D6	*13+*2	\N	f	f
5763832	22	CYP2D6	*177	PV02522	f	f
5998158	18	CYP2D6	*178	PV02809	f	f
7096184	1	CYP2D6	*13+*68x2+*4	\N	f	f
5998164	18	CYP2D6	*181	PV02815	f	f
7096186	1	CYP2D6	*36x2+*10	\N	f	f
7096189	1	CYP2D6	*68+*2	\N	f	f
777532	171	CYP2C19	*1	PV00598	f	f
5998166	18	CYP2D6	*182	PV02817	f	f
5998168	18	CYP2D6	*183	PV02819	f	f
777970	171	CYP2D6	*19	PV02196	f	f
2784572	89	CYP4F2	*4	PV02221	f	f
6235320	14	CYP2C9	*86	PV02929	f	f
6235324	14	CYP2C9	*88	PV02933	f	f
3318539	70	CYP2D6	*172	PV02301	f	f
5998160	18	CYP2D6	*179	PV02811	f	f
3318599	70	CYP4F2	*15	PV02328	f	f
2784576	89	CYP4F2	*6	PV02225	f	f
779305	164	SLCO1B1	*15	PV01632	f	f
779335	164	SLCO1B1	*30	PV01643	f	f
6235063	14	CYP2C19	*40	PV02894	f	f
3685942	35	RYR1	c.14558C>T	\N	f	f
3685954	35	RYR1	c.14678G>A	\N	f	f
6355369	6	CFTR	R1283M	\N	f	f
778242	170	CYP4F2	*3	PV02214	f	f
777534	171	CYP2C19	*2	PV00599	f	f
777566	171	CYP2C19	*18	PV00615	f	f
777568	171	CYP2C19	*19	PV00616	f	f
778780	98	G6PD	Taipei, Chinese-3	\N	f	f
778872	96	G6PD	West Virginia	\N	f	f
3685878	35	RYR1	c.13702C>G	\N	f	f
779041	96	IFNL3	rs12979860 reference (C)	\N	t	f
3685880	35	RYR1	c.13760C>T	\N	f	f
3685882	35	RYR1	c.13913G>A	\N	f	f
3685892	35	RYR1	c.14002C>T	\N	f	f
3685894	35	RYR1	c.14051T>C	\N	f	f
3685904	35	RYR1	c.14201G>A	\N	f	f
7096542	2	NAT2	*65	PV02991	f	f
3685906	35	RYR1	c.14209C>T	\N	f	f
3685908	35	RYR1	c.14210G>A	\N	f	f
778337	96	DPYD	c.295_298delTCAT (*7)	\N	f	f
3685918	35	RYR1	c.14449A>T	\N	f	f
3685920	35	RYR1	c.14458G>A	\N	f	f
3685930	35	RYR1	c.14510delA	\N	f	f
3685932	35	RYR1	c.14509C>G	\N	f	f
779238	96	RYR1	c.14512C>G	\N	f	f
3685944	35	RYR1	c.14567C>G	\N	f	f
777570	171	CYP2C19	*22	PV00617	f	f
3685956	35	RYR1	c.14680G>A	\N	f	f
1002685	155	SLCO1B1	*37	PV01649	f	f
777572	171	CYP2C19	*23	PV00618	f	f
777548	171	CYP2C19	*9	PV00606	f	f
1002701	155	SLCO1B1	*45	PV01657	f	f
779043	96	IFNL3	rs12979860 variant (T)	\N	f	f
3685936	35	RYR1	c.14524G>A	\N	f	f
6355377	6	CFTR	S589N	\N	f	f
777576	171	CYP2C19	*25	PV00620	f	f
777540	171	CYP2C19	*5	PV02131	f	f
3685886	35	RYR1	c.13934G>A	\N	f	f
3685910	35	RYR1	c.14270G>A	\N	f	f
779232	96	RYR1	c.14387A>G	\N	f	f
3685922	35	RYR1	c.14458G>T	\N	f	f
779244	96	RYR1	c.14693T>C	\N	f	f
3685960	35	RYR1	c.14782A>G	\N	f	f
3685896	35	RYR1	c.14126C>T	\N	f	f
3685962	35	RYR1	c.14803G>A	\N	f	f
3685964	35	RYR1	c.14813T>C	\N	f	f
3685966	35	RYR1	c.14814C>G	\N	f	f
3685968	35	RYR1	c.14817C>A	\N	f	f
3685970	35	RYR1	c.14818G>A	\N	f	f
3685972	35	RYR1	c.14825G>T	\N	f	f
3685974	35	RYR1	c.14879T>A	\N	f	f
3685976	35	RYR1	c.14918C>T	\N	f	f
3685978	35	RYR1	c.14968A>G	\N	f	f
3685980	35	RYR1	c.15059G>C	\N	f	f
779279	164	SLCO1B1	*2	PV01619	f	f
779333	164	SLCO1B1	*29	PV01642	f	f
779287	164	SLCO1B1	*6	PV01623	f	f
1357093	143	SLCO1B1	*49	PV01734	f	t
777538	171	CYP2C19	*4	PV00601	f	f
779285	164	SLCO1B1	*5	PV01622	f	f
777550	171	CYP2C19	*10	PV00607	f	f
777552	171	CYP2C19	*11	PV00608	f	f
777554	171	CYP2C19	*12	PV00609	f	f
6355379	6	CFTR	S737F	\N	f	f
6355385	6	CFTR	S1159F	\N	f	f
6355387	6	CFTR	S1159P	\N	f	f
777562	171	CYP2C19	*16	PV02139	f	f
777600	171	CYP2C19	*39	PV01528	f	f
777536	171	CYP2C19	*3	PV00600	f	f
6355393	6	CFTR	T338I	\N	f	f
777598	166	CYP2C19	*37	PV00732	f	t
6355395	6	CFTR	T1053I	\N	f	f
6355397	6	CFTR	V232D	\N	f	f
777544	171	CYP2C19	*7	PV02134	f	f
777944	166	CYP2D6	*5	PV00430	f	t
6355399	6	CFTR	V562I	\N	f	f
6355401	6	CFTR	V754M	\N	f	f
6355403	6	CFTR	V1293G	\N	f	f
6355405	6	CFTR	W1282R	\N	f	f
3685916	35	RYR1	c.14424C>A	\N	f	f
6355407	6	CFTR	Y1014C	\N	f	f
6355409	6	CFTR	Y1032C	\N	f	f
777574	171	CYP2C19	*24	PV00619	f	f
3685888	35	RYR1	c.13990T>C	\N	f	f
777594	171	CYP2C19	*35	PV00629	f	f
3685938	35	RYR1	c.14539G>C	\N	f	f
779242	96	RYR1	c.14582G>A	\N	f	f
3685948	35	RYR1	c.14581C>T	\N	f	f
3685950	35	RYR1	c.14627A>G	\N	f	f
3685952	35	RYR1	c.14639T>C	\N	f	f
777542	171	CYP2C19	*6	PV00603	f	f
779291	164	SLCO1B1	*8	PV01625	f	f
777564	171	CYP2C19	*17	PV00614	f	f
778116	171	CYP2D6	*99	PV00516	f	f
7096544	2	NAT2	*66	PV02993	f	f
777556	171	CYP2C19	*13	PV00610	f	f
777558	171	CYP2C19	*14	PV00611	f	f
3685890	35	RYR1	c.13994_13995delTCinsCT	\N	f	f
777560	171	CYP2C19	*15	PV00612	f	f
3685924	35	RYR1	c.14471T>C	\N	f	f
7096546	2	NAT2	*67	PV02995	f	f
778435	96	DPYD	c.1905C>G	\N	f	f
778453	96	DPYD	c.2279C>T	\N	f	f
3685874	35	RYR1	c.13673G>A	\N	f	f
779234	96	RYR1	c.14477C>T	\N	f	f
779240	96	RYR1	c.14545G>A	\N	f	f
778485	96	DPYD	c.2983G>T (*10)	\N	f	f
3685898	35	RYR1	c.14168G>A	\N	f	f
3685900	35	RYR1	c.14186A>C	\N	f	f
3685876	35	RYR1	c.13672C>T	\N	f	f
779236	96	RYR1	c.14497C>T	\N	f	f
778954	96	G6PD	Puerto Limon	\N	f	f
778990	96	G6PD	Santiago de Cuba, Morioka	\N	f	f
3685902	35	RYR1	c.14197T>G	\N	f	f
779293	164	SLCO1B1	*9	PV01626	f	f
7096548	2	NAT2	*68	PV02997	f	f
7096550	2	NAT2	*69	PV02999	f	f
1002623	155	SLCO1B1	*1	PV01618	t	f
777772	171	CYP2C9	*53	PV00589	f	f
777774	171	CYP2C9	*54	PV00590	f	f
777778	171	CYP2C9	*56	PV00592	f	f
6235905	14	CYP4F2	*18	PV02945	f	f
6235907	14	CYP4F2	*19	PV02947	f	f
3685856	35	RYR1	c.12553G>A	\N	f	f
777428	171	CYP2B6	*4	PV00742	f	f
777686	171	CYP2C9	*10	PV00546	f	f
777692	171	CYP2C9	*13	PV00549	f	f
777694	171	CYP2C9	*14	PV00550	f	f
778483	96	DPYD	c.2977C>T	\N	f	f
778714	96	G6PD	202G>A_376A>G_1264C>G	\N	f	f
778752	96	G6PD	A	\N	f	f
778712	96	G6PD	A- 202A_376G	\N	f	f
777780	171	CYP2C9	*57	PV00593	f	f
778742	96	G6PD	Acrokorinthos	\N	f	f
777782	171	CYP2C9	*58	PV00594	f	f
779002	96	G6PD	Andalus	\N	f	f
777698	171	CYP2C9	*16	PV00552	f	f
777784	171	CYP2C9	*59	PV00595	f	f
777786	171	CYP2C9	*60	PV00596	f	f
777788	171	CYP2C9	*61	PV00597	f	f
777700	171	CYP2C9	*17	PV00553	f	f
777790	171	CYP2C9	*62	PV00851	f	f
777792	171	CYP2C9	*63	PV01418	f	f
777702	171	CYP2C9	*18	PV00554	f	f
777670	171	CYP2C9	*2	PV00538	f	f
777796	171	CYP2C9	*65	PV01420	f	f
777798	171	CYP2C9	*66	PV01421	f	f
777800	171	CYP2C9	*67	PV01422	f	f
777706	171	CYP2C9	*20	PV00556	f	f
777802	171	CYP2C9	*68	PV01423	f	f
777804	171	CYP2C9	*69	PV01424	f	f
777806	171	CYP2C9	*70	PV01425	f	f
777712	171	CYP2C9	*23	PV00559	f	f
1406315	141	CYP2C9	*72	PV01736	f	f
777714	171	CYP2C9	*24	PV00560	f	f
777720	171	CYP2C9	*27	PV00563	f	f
777722	171	CYP2C9	*28	PV00564	f	f
6355291	6	CFTR	I175V	\N	f	f
6355317	6	CFTR	M952I(G>C)	\N	f	f
1406317	141	CYP2C9	*73	PV01738	f	f
777724	171	CYP2C9	*29	PV00565	f	f
6235909	14	CYP4F2	*20	PV02949	f	f
777672	171	CYP2C9	*3	PV00539	f	f
777726	171	CYP2C9	*30	PV00566	f	f
777728	171	CYP2C9	*31	PV00567	f	f
1406319	141	CYP2C9	*74	PV01803	f	f
1932985	121	CYP2C9	*76	PV01780	f	f
6235911	14	CYP4F2	*21	PV02951	f	f
6235913	14	CYP4F2	*22	PV02953	f	f
6235915	14	CYP4F2	*23	PV02955	f	f
1002689	155	SLCO1B1	*39	PV01651	f	f
778826	96	G6PD	Asahikawa	\N	f	f
1932987	121	CYP2C9	*77	PV01782	f	f
777730	171	CYP2C9	*32	PV00568	f	f
777734	171	CYP2C9	*34	PV00570	f	f
777738	171	CYP2C9	*36	PV00572	f	f
777740	171	CYP2C9	*37	PV00573	f	f
778938	96	G6PD	Beverly Hills, Genova, Iwate, Niigata, Yamaguchi	\N	f	f
777742	171	CYP2C9	*38	PV00574	f	f
777744	171	CYP2C9	*39	PV00575	f	f
779038	96	G6PD	Brighton	\N	f	f
778774	96	G6PD	Gond	\N	f	f
778906	96	G6PD	Ierapetra	\N	f	f
778724	96	G6PD	Lagosanto	\N	f	f
778800	97	G6PD	Mediterranean, Dallas, Panama, Sassari, Cagliari, Birmingham	\N	f	f
777748	171	CYP2C9	*41	PV00577	f	f
777750	171	CYP2C9	*42	PV00578	f	f
777752	171	CYP2C9	*43	PV00579	f	f
1932989	121	CYP2C9	*78	PV01784	f	f
1932991	121	CYP2C9	*79	PV01786	f	f
777756	171	CYP2C9	*45	PV00581	f	f
777760	171	CYP2C9	*47	PV00583	f	f
1932993	121	CYP2C9	*80	PV01788	f	f
778802	96	G6PD	Pedoplis-Ckaro	\N	f	f
778744	96	G6PD	Santa Maria	\N	f	f
3685694	35	RYR1	c.7771C>T	\N	f	f
3685726	35	RYR1	c.8518C>T	\N	f	f
3685758	35	RYR1	c.9758T>C	\N	f	f
3685790	35	RYR1	c.10891G>T	\N	f	f
3685822	35	RYR1	c.11953T>C	\N	f	f
1932997	121	CYP2C9	*82	PV01792	f	f
1932999	121	CYP2C9	*83	PV01794	f	f
1933001	121	CYP2C9	*84	PV01796	f	f
777684	171	CYP2C9	*9	PV00545	f	f
777994	171	CYP2D6	*31	PV00455	f	f
777762	171	CYP2C9	*48	PV00584	f	f
777764	171	CYP2C9	*49	PV00585	f	f
777676	171	CYP2C9	*5	PV00541	f	f
777768	171	CYP2C9	*51	PV00587	f	f
777770	171	CYP2C9	*52	PV00588	f	f
777472	171	CYP2B6	*27	PV00765	f	f
2899142	85	CYP2B6	*39	PV02266	f	f
2899146	85	CYP2B6	*41	PV02270	f	f
2899148	85	CYP2B6	*42	PV02272	f	f
2899150	85	CYP2B6	*43	PV02274	f	f
2899152	85	CYP2B6	*44	PV02276	f	f
777430	171	CYP2B6	*5	PV00743	f	f
777530	171	CYP2C19	*38	PV02145	t	f
777936	171	CYP2D6	*1	PV00426	t	f
777954	171	CYP2D6	*10	PV00435	f	f
778118	171	CYP2D6	*100	PV00517	f	f
778120	171	CYP2D6	*101	PV00518	f	f
778122	171	CYP2D6	*102	PV00519	f	f
778124	171	CYP2D6	*103	PV00520	f	f
778126	171	CYP2D6	*104	PV00521	f	f
778128	171	CYP2D6	*105	PV00522	f	f
778130	171	CYP2D6	*106	PV00523	f	f
778132	171	CYP2D6	*107	PV00524	f	f
778136	171	CYP2D6	*109	PV00526	f	f
777956	171	CYP2D6	*11	PV00436	f	f
778138	171	CYP2D6	*110	PV00527	f	f
778140	171	CYP2D6	*111	PV00528	f	f
778142	171	CYP2D6	*112	PV00529	f	f
778144	171	CYP2D6	*113	PV00530	f	f
777962	171	CYP2D6	*14	PV00439	f	f
777964	171	CYP2D6	*15	PV00440	f	f
777966	171	CYP2D6	*17	PV00441	f	f
777968	171	CYP2D6	*18	PV01591	f	f
777938	171	CYP2D6	*2	PV00427	f	f
777972	171	CYP2D6	*20	PV01749	f	f
777974	171	CYP2D6	*21	PV02825	f	f
777976	171	CYP2D6	*22	PV00446	f	f
777980	171	CYP2D6	*24	PV00448	f	f
777982	171	CYP2D6	*25	PV00449	f	f
777984	171	CYP2D6	*26	PV00450	f	f
777986	171	CYP2D6	*27	PV00451	f	f
777990	171	CYP2D6	*29	PV00453	f	f
777940	171	CYP2D6	*3	PV00428	f	f
777992	171	CYP2D6	*30	PV00454	f	f
777996	171	CYP2D6	*32	PV00456	f	f
777998	171	CYP2D6	*33	PV00457	f	f
778000	171	CYP2D6	*34	PV00458	f	f
778002	171	CYP2D6	*35	PV00459	f	f
778004	171	CYP2D6	*36	PV02379	f	f
778006	171	CYP2D6	*37	PV00461	f	f
778008	171	CYP2D6	*38	PV01592	f	f
778010	171	CYP2D6	*39	PV00463	f	f
777942	171	CYP2D6	*4	PV00429	f	f
778012	171	CYP2D6	*40	PV00464	f	f
6237969	14	SLCO1B1	*50	PV02969	f	f
6237971	14	SLCO1B1	*51	PV02971	f	f
6237973	14	SLCO1B1	*52	PV02973	f	f
6237975	14	SLCO1B1	*53	PV02975	f	f
6237977	14	SLCO1B1	*54	PV02977	f	f
3827912	29	MT-RNR1	m.1520T>C	\N	f	f
3827914	29	MT-RNR1	m.1537C>T	\N	f	f
3827916	29	MT-RNR1	m.1555A>G	\N	f	f
3827918	29	MT-RNR1	m.1556C>T	\N	f	f
6481200	10	NAT2	*10	PV02400	f	f
6481206	10	NAT2	*16	PV02403	f	f
6481210	10	NAT2	*21	PV02405	f	f
6481216	10	NAT2	*30	PV02408	f	f
779404	96	TPMT	*5	\N	f	f
779406	96	TPMT	*6	\N	f	f
779408	96	TPMT	*7	\N	f	f
779410	96	TPMT	*8	\N	f	f
779412	96	TPMT	*9	\N	f	f
779414	96	TPMT	*10	\N	f	f
779416	96	TPMT	*11	\N	f	f
779418	96	TPMT	*12	\N	f	f
779420	96	TPMT	*13	\N	f	f
779422	96	TPMT	*14	\N	f	f
779424	96	TPMT	*15	\N	f	f
779426	96	TPMT	*16	\N	f	f
779428	96	TPMT	*17	\N	f	f
779430	96	TPMT	*18	\N	f	f
779432	96	TPMT	*19	\N	f	f
779434	96	TPMT	*20	\N	f	f
779436	96	TPMT	*21	\N	f	f
779438	96	TPMT	*22	\N	f	f
779440	96	TPMT	*23	\N	f	f
779442	96	TPMT	*24	\N	f	f
777339	96	CFTR	F1074L	\N	f	f
778170	171	CYP2D6	*126	PV00682	f	f
778172	171	CYP2D6	*127	PV00635	f	f
777379	96	CFTR	S549R(A>C)	\N	f	f
777458	171	CYP2B6	*20	PV00758	f	f
777546	171	CYP2C19	*8	PV02136	f	f
777266	96	CACNA1S	c.3257G>A	\N	f	f
779396	96	TPMT	*3A	\N	f	f
778146	171	CYP2D6	*114	PV00531	f	f
779398	96	TPMT	*3B	\N	f	f
777710	171	CYP2C9	*22	PV00558	f	f
779400	96	TPMT	*3C	\N	f	f
778150	171	CYP2D6	*116	PV00533	f	f
3318597	70	CYP4F2	*14	PV02326	f	f
778156	171	CYP2D6	*119	PV00536	f	f
777696	171	CYP2C9	*15	PV00551	f	f
828095	95	MT-RNR1	Reference	\N	t	f
779444	96	TPMT	*25	\N	f	f
777446	171	CYP2B6	*13	PV00751	f	f
777488	171	CYP2B6	*35	PV00775	f	f
777688	171	CYP2C9	*11	PV00547	f	f
777674	171	CYP2C9	*4	PV00540	f	f
3827872	29	MT-RNR1	m.663A>G	\N	f	f
778176	171	CYP2D6	*129	PV00684	f	f
778098	171	CYP2D6	*90	PV00507	f	f
6481190	10	NAT2	*1	PV02395	t	f
778148	171	CYP2D6	*115	PV00532	f	f
6481236	10	NAT2	*40	PV02418	f	f
778162	171	CYP2D6	*122	PV00632	f	f
778152	171	CYP2D6	*117	PV00534	f	f
778164	171	CYP2D6	*123	PV00633	f	f
778166	171	CYP2D6	*124	PV00634	f	f
778168	171	CYP2D6	*125	PV00681	f	f
6481240	10	NAT2	*42	PV02420	f	f
2784574	89	CYP4F2	*5	PV02223	f	f
3827874	29	MT-RNR1	m.669T>C	\N	f	f
3827876	29	MT-RNR1	m.747A>G	\N	f	f
3827878	29	MT-RNR1	m.786G>A	\N	f	f
3827880	29	MT-RNR1	m.807A>C	\N	f	f
3827882	29	MT-RNR1	m.807A>G	\N	f	f
3827884	29	MT-RNR1	m.827A>G	\N	f	f
3827886	29	MT-RNR1	m.839A>G	\N	f	f
3827888	29	MT-RNR1	m.896A>G	\N	f	f
3827892	29	MT-RNR1	m.951G>A	\N	f	f
6481256	10	NAT2	*50	PV02428	f	f
3827894	29	MT-RNR1	m.960C>del	\N	f	f
3827896	29	MT-RNR1	m.961T>G	\N	f	f
6481246	10	NAT2	*45	PV02423	f	f
3827898	29	MT-RNR1	m.961T>del	\N	f	f
3827900	29	MT-RNR1	m.961T>del+Cn	\N	f	f
6481250	10	NAT2	*47	PV02425	f	f
6481220	10	NAT2	*32	PV02410	f	f
6481222	10	NAT2	*33	PV02411	f	f
3827902	29	MT-RNR1	m.988G>A	\N	f	f
3827904	29	MT-RNR1	m.1095T>C	\N	f	f
3827906	29	MT-RNR1	m.1189T>C	\N	f	f
3827908	29	MT-RNR1	m.1243T>C	\N	f	f
3827910	29	MT-RNR1	m.1494C>T	\N	f	f
6481266	10	NAT2	*55	PV02776	f	f
6481198	10	NAT2	*7	PV02399	f	f
779394	96	TPMT	*2	\N	f	f
779402	96	TPMT	*4	\N	f	f
1002705	155	SLCO1B1	*47	PV01659	f	f
6481212	10	NAT2	*27	PV02406	f	f
6481218	10	NAT2	*31	PV02409	f	f
6481226	10	NAT2	*35	PV02413	f	f
6481228	10	NAT2	*36	PV02414	f	f
6481230	10	NAT2	*37	PV02415	f	f
6481232	10	NAT2	*38	PV02416	f	f
6481192	10	NAT2	*4	PV02396	f	f
6481238	10	NAT2	*41	PV02419	f	f
6481272	10	NAT2	*58	PV02787	f	f
6481276	10	NAT2	*60	PV02791	f	f
6481244	10	NAT2	*44	PV02422	f	f
6481262	10	NAT2	*53	PV02644	f	f
6481248	10	NAT2	*46	PV02424	f	f
6481254	10	NAT2	*49	PV02427	f	f
6481194	10	NAT2	*5	PV02397	f	f
6481258	10	NAT2	*51	PV02640	f	f
779313	164	SLCO1B1	*19	PV01634	f	f
6481264	10	NAT2	*54	PV02771	f	f
6481282	10	NAT2	*63	PV02797	f	f
6481268	10	NAT2	*56	PV02783	f	f
6481274	10	NAT2	*59	PV02789	f	f
6481196	10	NAT2	*6	PV02398	f	f
6481280	10	NAT2	*62	PV02795	f	f
6481204	10	NAT2	*15	PV02402	f	f
6481284	10	NAT2	*64	PV02799	f	f
6481208	10	NAT2	*19	PV02404	f	f
779341	164	SLCO1B1	*33	PV01646	f	f
6481286	5	NAT2	*5G	\N	f	f
6481288	5	NAT2	*17	\N	f	f
6481290	5	NAT2	*5J	\N	f	f
6481292	5	NAT2	*5M	\N	f	f
6481294	5	NAT2	*6J	\N	f	f
6481296	5	NAT2	*5U	\N	f	f
779329	164	SLCO1B1	*27	PV01640	f	f
779392	96	TPMT	*1	\N	t	f
1002691	155	SLCO1B1	*40	PV01652	f	f
777262	96	CACNA1S	Reference	\N	t	f
779498	96	UGT1A1	*37	\N	f	f
779160	96	RYR1	c.742G>A	\N	f	f
3685398	35	RYR1	c.1144C>A	\N	f	f
3685428	35	RYR1	c.1565A>G	\N	f	f
779500	96	UGT1A1	*80	\N	f	f
3685458	35	RYR1	c.2537C>T	\N	f	f
3685488	35	RYR1	c.4024A>G	\N	f	f
3685520	35	RYR1	c.5440A>G	\N	f	f
3685550	35	RYR1	c.6488G>T	\N	f	f
3685580	35	RYR1	c.6743G>A	\N	f	f
779502	96	UGT1A1	*80+*28	\N	f	f
779504	96	UGT1A1	*80+*37	\N	f	f
779202	96	RYR1	c.7063C>T	\N	f	f
779507	96	VKORC1	rs9923231 reference (C)	\N	t	f
779509	96	VKORC1	rs9923231 variant (T)	\N	f	f
779206	96	RYR1	c.7282G>A	\N	f	f
778218	171	CYP3A5	*1	PV01323	t	f
778222	171	CYP3A5	*3	PV01325	f	f
778230	171	CYP3A5	*7	PV01329	f	f
778232	171	CYP3A5	*8	PV01330	f	f
778234	171	CYP3A5	*9	PV01331	f	f
3685646	35	RYR1	c.7292A>T	\N	f	f
779220	96	RYR1	c.7373G>A	\N	f	f
3685704	35	RYR1	c.7879G>C	\N	f	f
3685734	35	RYR1	c.8654C>G	\N	f	f
779064	170	NUDT15	*1	PV01597	t	f
3685764	35	RYR1	c.9850T>A	\N	f	f
779082	170	NUDT15	*10	PV01606	f	f
779084	170	NUDT15	*11	PV01607	f	f
3685794	35	RYR1	c.11120G>T	\N	f	f
3685824	35	RYR1	c.11958C>G	\N	f	f
779086	170	NUDT15	*12	PV01608	f	f
779088	170	NUDT15	*13	PV01609	f	f
779090	170	NUDT15	*14	PV01610	f	f
779092	170	NUDT15	*15	PV01611	f	f
779094	170	NUDT15	*16	PV01612	f	f
779096	170	NUDT15	*17	PV01613	f	f
3685854	35	RYR1	c.12533G>T	\N	f	f
3685884	35	RYR1	c.13918A>G	\N	f	f
3685914	35	RYR1	c.14422_14423delinsAA	\N	f	f
779446	96	TPMT	*26	\N	f	f
779448	96	TPMT	*27	\N	f	f
779450	96	TPMT	*28	\N	f	f
779098	170	NUDT15	*18	PV01614	f	f
779452	96	TPMT	*29	\N	f	f
779454	96	TPMT	*30	\N	f	f
779456	96	TPMT	*31	\N	f	f
779458	96	TPMT	*32	\N	f	f
779460	96	TPMT	*33	\N	f	f
779462	96	TPMT	*34	\N	f	f
779464	96	TPMT	*35	\N	f	f
779466	96	TPMT	*36	\N	f	f
779468	96	TPMT	*37	\N	f	f
779470	96	TPMT	*38	\N	f	f
1508724	77	ABCG2	rs2231142 reference (G)	\N	t	f
779472	96	TPMT	*39	\N	f	f
779474	96	TPMT	*40	\N	f	f
779476	96	TPMT	*41	\N	f	f
779100	170	NUDT15	*19	PV01615	f	f
779066	170	NUDT15	*2	PV01598	f	f
779102	170	NUDT15	*20	PV01616	f	f
779478	96	TPMT	*42	\N	f	f
779480	96	TPMT	*43	\N	f	f
779482	96	TPMT	*44	\N	f	f
779488	96	UGT1A1	*1	\N	t	f
779490	96	UGT1A1	*6	\N	f	f
779492	96	UGT1A1	*27	\N	f	f
779494	96	UGT1A1	*28	\N	f	f
5881976	20	NUDT15	*21	PV02804	f	f
779068	170	NUDT15	*3	PV01599	f	f
779070	170	NUDT15	*4	PV01600	f	f
779072	170	NUDT15	*5	PV01601	f	f
779074	170	NUDT15	*6	PV01602	f	f
779076	170	NUDT15	*7	PV01603	f	f
779078	170	NUDT15	*8	PV01604	f	f
1002699	155	SLCO1B1	*44	PV01656	f	f
6481298	5	NAT2	*7G	\N	f	f
779496	96	UGT1A1	*36	\N	f	f
3685320	35	RYR1	c.131G>A	\N	f	f
779152	96	RYR1	c.130C>T	\N	f	f
3318589	70	CYP4F2	*10	PV02318	f	f
3685322	35	RYR1	c.152C>A	\N	f	f
3685324	35	RYR1	c.178G>A	\N	f	f
778228	171	CYP3A5	*6	PV01328	f	f
3685326	35	RYR1	c.178G>T	\N	f	f
3685328	35	RYR1	c.190T>C	\N	f	f
3685330	35	RYR1	c.212C>A	\N	f	f
3685332	35	RYR1	c.251C>T	\N	f	f
3685334	35	RYR1	c.418G>A	\N	f	f
3685336	35	RYR1	c.455C>A	\N	f	f
3685338	35	RYR1	c.463C>A	\N	f	f
3685340	35	RYR1	c.467G>A	\N	f	f
3685342	35	RYR1	c.479A>G	\N	f	f
779154	96	RYR1	c.487C>T	\N	f	f
779156	96	RYR1	c.488G>T	\N	f	f
3685348	35	RYR1	c.488G>A	\N	f	f
3685350	35	RYR1	c.493G>A	\N	f	f
3685352	35	RYR1	c.496G>A	\N	f	f
3685354	35	RYR1	c.497A>G	\N	f	f
3685356	35	RYR1	c.526G>A	\N	f	f
3685536	35	RYR1	c.6377G>A	\N	f	f
3685358	35	RYR1	c.528G>T	\N	f	f
3685360	35	RYR1	c.529C>T	\N	f	f
3685362	35	RYR1	c.533A>G	\N	f	f
3685364	35	RYR1	c.533A>C	\N	f	f
3685368	35	RYR1	c.641C>T	\N	f	f
3685370	35	RYR1	c.652G>A	\N	f	f
3685372	35	RYR1	c.677T>A	\N	f	f
3685374	35	RYR1	c.680A>T	\N	f	f
779158	96	RYR1	c.742G>C	\N	f	f
3685380	35	RYR1	c.946C>T	\N	f	f
3685382	35	RYR1	c.947G>T	\N	f	f
779162	96	RYR1	c.982C>T	\N	f	f
3685386	35	RYR1	c.992_994dup	\N	f	f
779164	96	RYR1	c.1021G>A	\N	f	f
779166	96	RYR1	c.1021G>C	\N	f	f
3685392	35	RYR1	c.1024G>A	\N	f	f
3685394	35	RYR1	c.1100G>A	\N	f	f
3685396	35	RYR1	c.1100G>T	\N	f	f
779168	96	RYR1	c.1201C>T	\N	f	f
3685402	35	RYR1	c.1201C>A	\N	f	f
3685404	35	RYR1	c.1201C>G	\N	f	f
3685406	35	RYR1	c.1202G>T	\N	f	f
3685408	35	RYR1	c.1202G>A	\N	f	f
779170	96	RYR1	c.1209C>G	\N	f	f
3685412	35	RYR1	c.1411C>T	\N	f	f
3685414	35	RYR1	c.1422G>T	\N	f	f
3685416	35	RYR1	c.1453A>G	\N	f	f
3685418	35	RYR1	c.1459C>G	\N	f	f
3685420	35	RYR1	c.1460T>C	\N	f	f
3685422	35	RYR1	c.1475G>A	\N	f	f
3685424	35	RYR1	c.1553T>C	\N	f	f
779172	96	RYR1	c.1565A>C	\N	f	f
779174	96	RYR1	c.1589G>A	\N	f	f
779176	96	RYR1	c.1597C>T	\N	f	f
3685434	35	RYR1	c.1597C>A	\N	f	f
779178	96	RYR1	c.1598G>A	\N	f	f
3685438	35	RYR1	c.1615T>C	\N	f	f
3685440	35	RYR1	c.1615T>G	\N	f	f
3685442	35	RYR1	c.1630G>T	\N	f	f
779180	96	RYR1	c.1654C>T	\N	f	f
3685446	35	RYR1	c.1834G>C	\N	f	f
779182	96	RYR1	c.1840C>T	\N	f	f
779184	96	RYR1	c.1841G>T	\N	f	f
3685452	35	RYR1	c.2050G>C	\N	f	f
3685454	35	RYR1	c.2122G>A	\N	f	f
3685456	35	RYR1	c.2447C>T	\N	f	f
3685460	35	RYR1	c.2654G>A	\N	f	f
3685462	35	RYR1	c.2797G>A	\N	f	f
3685464	35	RYR1	c.2924G>A	\N	f	f
3685466	35	RYR1	c.2996G>A	\N	f	f
3685468	35	RYR1	c.3095G>A	\N	f	f
3685470	35	RYR1	c.3127C>T	\N	f	f
3685472	35	RYR1	c.3166G>C	\N	f	f
3685474	35	RYR1	c.3166G>A	\N	f	f
3685476	35	RYR1	c.3172G>A	\N	f	f
3685478	35	RYR1	c.3224G>A	\N	f	f
3685480	35	RYR1	c.3418C>T	\N	f	f
3685482	35	RYR1	c.3527C>T	\N	f	f
3685484	35	RYR1	c.3656A>C	\N	f	f
3685486	35	RYR1	c.3667G>A	\N	f	f
3685490	35	RYR1	c.4178A>G	\N	f	f
3685492	35	RYR1	c.4400A>G	\N	f	f
3685494	35	RYR1	c.4711A>G	\N	f	f
3685496	35	RYR1	c.4747C>T	\N	f	f
3685498	35	RYR1	c.4763C>T	\N	f	f
3685500	35	RYR1	c.4775C>T	\N	f	f
3685502	35	RYR1	c.5024T>C	\N	f	f
3685504	35	RYR1	c.5033A>G	\N	f	f
3685506	35	RYR1	c.5036G>A	\N	f	f
3685508	35	RYR1	c.5132A>G	\N	f	f
3685510	35	RYR1	c.5183C>T	\N	f	f
3685512	35	RYR1	c.5186T>G	\N	f	f
3685514	35	RYR1	c.5317C>T	\N	f	f
3685516	35	RYR1	c.5341T>C	\N	f	f
3685518	35	RYR1	c.5360C>T	\N	f	f
3685522	35	RYR1	c.5441T>A	\N	f	f
3685524	35	RYR1	c.5890C>T	\N	f	f
3685526	35	RYR1	c.6037A>C	\N	f	f
3685528	35	RYR1	c.6178G>T	\N	f	f
3685530	35	RYR1	c.6302T>A	\N	f	f
3685532	35	RYR1	c.6304G>C	\N	f	f
3685534	35	RYR1	c.6349G>C	\N	f	f
3685538	35	RYR1	c.6387C>G	\N	f	f
3685540	35	RYR1	c.6388G>A	\N	f	f
3685542	35	RYR1	c.6478G>A	\N	f	f
779186	96	RYR1	c.6487C>T	\N	f	f
779188	96	RYR1	c.6488G>A	\N	f	f
3685548	35	RYR1	c.6488G>C	\N	f	f
779190	96	RYR1	c.6502G>A	\N	f	f
3685554	35	RYR1	c.6544A>T	\N	f	f
3685556	35	RYR1	c.6548G>A	\N	f	f
3685558	35	RYR1	c.6599C>T	\N	f	f
3685982	35	RYR1	c.15060G>C	\N	f	f
3685984	35	RYR1	c.14364+1G>T	\N	f	f
778104	171	CYP2D6	*93	PV00510	f	f
778238	170	CYP4F2	*1	PV02212	t	f
3685310	35	RYR1	c.51_53del	\N	f	f
3685312	35	RYR1	c.97A>G	\N	f	f
779150	96	RYR1	c.103T>C	\N	f	f
3685316	35	RYR1	c.119G>C	\N	f	f
3685308	35	RYR1	c.38T>G	\N	f	f
3318591	70	CYP4F2	*11	PV02320	f	f
779148	96	RYR1	Reference	\N	t	f
778375	96	DPYD	c.1108A>G	\N	f	f
778399	96	DPYD	c.1371C>T	\N	f	f
778413	96	DPYD	c.1601G>A (*4)	\N	f	f
778415	96	DPYD	c.1615G>A	\N	f	f
778417	96	DPYD	c.1627A>G (*5)	\N	f	f
778427	96	DPYD	c.1777G>A	\N	f	f
778429	96	DPYD	c.1796T>C	\N	f	f
778431	96	DPYD	c.1896T>C	\N	f	f
778433	96	DPYD	c.1898delC (*3)	\N	f	f
778385	96	DPYD	c.1218G>A	\N	f	f
778401	96	DPYD	c.1403C>A	\N	f	f
778403	96	DPYD	c.1475C>T	\N	f	f
778437	96	DPYD	c.1905+1G>A (*2A)	\N	f	f
778445	96	DPYD	c.2161G>A	\N	f	f
778345	96	DPYD	c.496A>G	\N	f	f
778449	96	DPYD	c.2194G>A (*6)	\N	f	f
778451	96	DPYD	c.2195T>G	\N	f	f
778455	96	DPYD	c.2303C>A	\N	f	f
778457	96	DPYD	c.2336C>A	\N	f	f
778459	96	DPYD	c.2482G>A	\N	f	f
778361	96	DPYD	c.868A>G	\N	f	f
778347	96	DPYD	c.498G>A	\N	f	f
778419	96	DPYD	c.1679T>G (*13)	\N	f	f
778421	96	DPYD	c.1682G>T	\N	f	f
778387	96	DPYD	c.1260T>A	\N	f	f
778363	96	DPYD	c.929T>C	\N	f	f
778423	96	DPYD	c.1774C>T	\N	f	f
778461	96	DPYD	c.2582A>G	\N	f	f
778465	96	DPYD	c.2639G>T	\N	f	f
778467	96	DPYD	c.2656C>T	\N	f	f
778469	96	DPYD	c.2657G>A (*9B)	\N	f	f
778471	96	DPYD	c.2846A>T	\N	f	f
778473	96	DPYD	c.2872A>G	\N	f	f
778475	96	DPYD	c.2915A>G	\N	f	f
778479	96	DPYD	c.2933A>G	\N	f	f
778481	96	DPYD	c.2978T>G	\N	f	f
778487	96	DPYD	c.3049G>A	\N	f	f
778489	96	DPYD	c.3061G>C	\N	f	f
778491	96	DPYD	c.3067C>A	\N	f	f
3685366	35	RYR1	c.625G>A	\N	f	f
778327	96	DPYD	Reference	\N	t	f
3685560	35	RYR1	c.6612C>G	\N	f	f
779192	96	RYR1	c.6617C>G	\N	f	f
779194	96	RYR1	c.6617C>T	\N	f	f
3685566	35	RYR1	c.6628G>T	\N	f	f
3685568	35	RYR1	c.6635T>A	\N	f	f
3685570	35	RYR1	c.6640G>A	\N	f	f
3685572	35	RYR1	c.6671G>A	\N	f	f
3685574	35	RYR1	c.6670C>T	\N	f	f
3685576	35	RYR1	c.6710G>A	\N	f	f
3685578	35	RYR1	c.6742C>T	\N	f	f
3685582	35	RYR1	c.6757C>T	\N	f	f
3685584	35	RYR1	c.6838G>A	\N	f	f
3685586	35	RYR1	c.6847A>C	\N	f	f
3685588	35	RYR1	c.6961A>G	\N	f	f
779196	96	RYR1	c.7007G>A	\N	f	f
3685592	35	RYR1	c.7018T>C	\N	f	f
2899144	85	CYP2B6	*40	PV02268	f	f
2899160	85	CYP2B6	*48	PV02284	f	f
777586	171	CYP2C19	*31	PV00625	f	f
777596	166	CYP2C19	*36	PV00730	f	t
777668	171	CYP2C9	*1	PV00537	t	f
777708	171	CYP2C9	*21	PV00557	f	f
777718	171	CYP2C9	*26	PV00562	f	f
777736	171	CYP2C9	*35	PV00571	f	f
777754	171	CYP2C9	*44	PV00580	f	f
778154	171	CYP2D6	*118	PV00535	f	f
778158	171	CYP2D6	*120	PV00630	f	f
777960	166	CYP2D6	*13	PV00438	f	t
778194	171	CYP2D6	*138	PV00722	f	f
2091240	115	CYP2D6	*154	PV01934	f	f
2091248	115	CYP2D6	*158	PV01951	f	f
778329	96	DPYD	c.46C>G	\N	f	f
2677041	93	CYP2D6	*165	PV02201	f	f
778331	96	DPYD	c.61C>T	\N	f	f
778333	96	DPYD	c.62G>A	\N	f	f
778335	96	DPYD	c.85T>C (*9A)	\N	f	f
778339	96	DPYD	c.313G>A	\N	f	f
777808	171	CYP2C9	*71	PV01444	f	f
778349	96	DPYD	c.525G>A	\N	f	f
778351	96	DPYD	c.557A>G	\N	f	f
1932995	121	CYP2C9	*81	PV01790	f	f
778353	96	DPYD	c.601A>C	\N	f	f
778355	96	DPYD	c.632A>G	\N	f	f
778134	171	CYP2D6	*108	PV00525	f	f
778198	171	CYP2D6	*140	PV01361	f	f
778357	96	DPYD	c.703C>T (*8)	\N	f	f
778341	96	DPYD	c.343A>G	\N	f	f
778365	96	DPYD	c.934C>T	\N	f	f
778367	96	DPYD	c.967G>A	\N	f	f
778369	96	DPYD	c.1003G>T (*11)	\N	f	f
778371	96	DPYD	c.1024G>A	\N	f	f
778389	96	DPYD	c.1278G>T	\N	f	f
778373	96	DPYD	c.1057C>T	\N	f	f
778391	96	DPYD	c.1294G>A	\N	f	f
778393	96	DPYD	c.1314T>G	\N	f	f
778395	96	DPYD	c.1349C>T	\N	f	f
778405	96	DPYD	c.1484A>G	\N	f	f
3942827	28	DPYD	c.1129-5923C>G	\N	f	f
778377	96	DPYD	c.1129-5923C>G, c.1236G>A (HapB3)	\N	f	f
778379	96	DPYD	c.1156G>T (*12)	\N	f	f
778381	96	DPYD	c.1180C>T	\N	f	f
778383	96	DPYD	c.1181G>T	\N	f	f
778407	96	DPYD	c.1519G>A	\N	f	f
778397	96	DPYD	c.1358C>G	\N	f	f
778409	96	DPYD	c.1543G>A	\N	f	f
778447	96	DPYD	c.2186C>T	\N	f	f
778463	96	DPYD	c.2623A>C	\N	f	f
778411	96	DPYD	c.1577C>G	\N	f	f
778425	96	DPYD	c.1775G>A	\N	f	f
778477	96	DPYD	c.2921A>T	\N	f	f
778343	96	DPYD	c.451A>G	\N	f	f
778359	96	DPYD	c.775A>G	\N	f	f
1508726	77	ABCG2	rs2231142 variant (T)	\N	f	f
777264	96	CACNA1S	c.520C>T	\N	f	f
777315	96	CFTR	711+3A->G	\N	f	f
777309	96	CFTR	2789+5G->A	\N	f	f
777311	96	CFTR	3272-26A->G	\N	f	f
777313	96	CFTR	3849+10kbC->T	\N	f	f
777319	96	CFTR	A455E	\N	f	f
777317	96	CFTR	A1067T	\N	f	f
777321	96	CFTR	D110E	\N	f	f
777323	96	CFTR	D110H	\N	f	f
777329	96	CFTR	D579G	\N	f	f
777325	96	CFTR	D1152H	\N	f	f
777327	96	CFTR	D1270N	\N	f	f
777331	96	CFTR	E193K	\N	f	f
777335	96	CFTR	E831X	\N	f	f
777337	96	CFTR	F1052V	\N	f	f
777347	96	CFTR	G178R	\N	f	f
777349	96	CFTR	G551D	\N	f	f
777351	96	CFTR	G551S	\N	f	f
777341	96	CFTR	G1069R	\N	f	f
777343	96	CFTR	G1244E	\N	f	f
777345	96	CFTR	G1349D	\N	f	f
777353	96	CFTR	K1060T	\N	f	f
777355	96	CFTR	L206W	\N	f	f
777371	96	CFTR	R74W	\N	f	f
777363	96	CFTR	R117C	\N	f	f
777365	96	CFTR	R117H	\N	f	f
777367	96	CFTR	R347H	\N	f	f
777369	96	CFTR	R352Q	\N	f	f
777359	96	CFTR	R1070Q	\N	f	f
777361	96	CFTR	R1070W	\N	f	f
777377	96	CFTR	S549N	\N	f	f
777381	96	CFTR	S549R(T>G)	\N	f	f
777383	96	CFTR	S945L	\N	f	f
777385	96	CFTR	S977F	\N	f	f
777373	96	CFTR	S1251N	\N	f	f
777375	96	CFTR	S1255P	\N	f	f
777422	171	CYP2B6	*1	PV00738	t	f
777424	171	CYP2B6	*2	PV00740	f	f
777426	171	CYP2B6	*3	PV00741	f	f
777582	171	CYP2C19	*29	PV00623	f	f
777584	171	CYP2C19	*30	PV02141	f	f
777588	171	CYP2C19	*32	PV00626	f	f
777590	171	CYP2C19	*33	PV00627	f	f
778160	171	CYP2D6	*121	PV00631	f	f
778174	171	CYP2D6	*128	PV01408	f	f
6481202	10	NAT2	*14	PV02401	f	f
6481214	10	NAT2	*29	PV02407	f	f
6481224	10	NAT2	*34	PV02412	f	f
6481234	10	NAT2	*39	PV02417	f	f
6481242	10	NAT2	*43	PV02421	f	f
6481252	10	NAT2	*48	PV02426	f	f
6481260	10	NAT2	*52	PV02642	f	f
6481270	10	NAT2	*57	PV02785	f	f
6481278	10	NAT2	*61	PV02793	f	f
779295	164	SLCO1B1	*10	PV01627	f	f
777307	96	CFTR	ivacaftor non-responsive CFTR sequence	\N	t	f
6606011	4	CFTR	F508C,S1251N	\N	f	f
778100	171	CYP2D6	*91	PV00508	f	f
778102	171	CYP2D6	*92	PV00509	f	f
778106	171	CYP2D6	*94	PV00511	f	f
778110	171	CYP2D6	*96	PV00513	f	f
778439	96	DPYD	c.1906A>C	\N	f	f
778441	96	DPYD	c.1990G>T	\N	f	f
778443	96	DPYD	c.2021G>A	\N	f	f
778666	97	G6PD	B (reference)	\N	t	f
778748	96	G6PD	A- 680T_376G	\N	f	f
778750	96	G6PD	A- 968C_376G	\N	f	f
778916	96	G6PD	Aachen	\N	f	f
778962	96	G6PD	Abeno	\N	f	f
778950	96	G6PD	Alhambra	\N	f	f
778702	96	G6PD	Amazonia	\N	f	f
779006	96	G6PD	Amiens	\N	f	f
778700	96	G6PD	Amsterdam	\N	f	f
778956	96	G6PD	Anadia	\N	f	f
778746	96	G6PD	Ananindeua	\N	f	f
779036	96	G6PD	Arakawa	\N	f	f
778708	96	G6PD	Asahi	\N	f	f
778686	96	G6PD	Aures	\N	f	f
778836	96	G6PD	Aveiro	\N	f	f
778858	96	G6PD	Bajo Maumere	\N	f	f
778844	96	G6PD	Bangkok	\N	f	f
779008	96	G6PD	Bangkok Noi	\N	f	f
778738	96	G6PD	Bao Loc	\N	f	f
778952	96	G6PD	Bari	\N	f	f
778766	96	G6PD	Belem	\N	f	f
779034	96	G6PD	Buenos Aires	\N	f	f
778762	96	G6PD	Cairo	\N	f	f
778922	96	G6PD	Calvo Mackenna	\N	f	f
779032	96	G6PD	Campinas	\N	f	f
779012	96	G6PD	Canton, Taiwan-Hakka, Gifu-like, Agrigento-like	\N	f	f
778994	96	G6PD	Cassano	\N	f	f
778894	96	G6PD	Chatham	\N	f	f
778794	96	G6PD	Chikugo	\N	f	f
778854	96	G6PD	Chinese-1	\N	f	f
778900	96	G6PD	Chinese-5	\N	f	f
778816	96	G6PD	Cincinnati	\N	f	f
778840	96	G6PD	Cleveland Corum	\N	f	f
778888	96	G6PD	Farroupilha	\N	f	f
779004	96	G6PD	Figuera da Foz	\N	f	f
779018	96	G6PD	Flores	\N	f	f
779030	96	G6PD	Fukaya	\N	f	f
778896	96	G6PD	Fushan	\N	f	f
778674	96	G6PD	Gaohe	\N	f	f
778978	96	G6PD	Georgia	\N	f	f
778680	96	G6PD	Gidra	\N	f	f
778936	96	G6PD	Guadalajara	\N	f	f
778726	96	G6PD	Guangzhou	\N	f	f
778852	96	G6PD	Haikou	\N	f	f
778734	96	G6PD	Hammersmith	\N	f	f
778810	96	G6PD	Dagua	\N	f	f
778830	96	G6PD	Durham	\N	f	f
778818	96	G6PD	Harilaou	\N	f	f
778998	96	G6PD	Harima	\N	f	f
778940	96	G6PD	Hartford	\N	f	f
778710	96	G6PD	Hechi	\N	f	f
778996	96	G6PD	Hermoupolis	\N	f	f
778676	96	G6PD	Honiara	\N	f	f
778770	96	G6PD	Ilesha	\N	f	f
778890	96	G6PD	Insuli	\N	f	f
778934	96	G6PD	Iowa, Walter Reed, Springfield	\N	f	f
778908	96	G6PD	Iwatsuki	\N	f	f
778970	96	G6PD	Japan, Shinagawa	\N	f	f
779022	96	G6PD	Kaiping, Anant, Dhon, Sapporo-like, Wosera	\N	f	f
778880	96	G6PD	Kalyan-Kerala, Jamnaga, Rohini	\N	f	f
778688	96	G6PD	Kambos	\N	f	f
779016	96	G6PD	Kamiube, Keelung	\N	f	f
778692	96	G6PD	Kamogawa	\N	f	f
778972	96	G6PD	Kawasaki	\N	f	f
778690	96	G6PD	Kozukata	\N	f	f
778944	96	G6PD	Krakow	\N	f	f
778848	96	G6PD	La Jolla	\N	f	f
778672	96	G6PD	Lages	\N	f	f
779026	96	G6PD	Laibin	\N	f	f
778842	96	G6PD	Lille	\N	f	f
778768	96	G6PD	Liuzhou	\N	f	f
778914	96	G6PD	Loma Linda	\N	f	f
778878	96	G6PD	Ludhiana	\N	f	f
778930	96	G6PD	Lynwood	\N	f	f
778932	96	G6PD	Madrid	\N	f	f
778776	96	G6PD	Mahidol	\N	f	f
778796	96	G6PD	Malaga	\N	f	f
778884	96	G6PD	Manhattan	\N	f	f
778984	96	G6PD	Mediterranean Haplotype	\N	f	f
778696	96	G6PD	Metaponto	\N	f	f
778822	96	G6PD	Mexico City	\N	f	f
778790	96	G6PD	Miaoli	\N	f	f
778814	96	G6PD	Minnesota, Marion, Gastonia, LeJeune	\N	f	f
778902	96	G6PD	Mira d'Aire	\N	f	f
778860	96	G6PD	Mizushima	\N	f	f
778868	96	G6PD	Montalbano	\N	f	f
778920	96	G6PD	Montpellier	\N	f	f
778754	96	G6PD	Mt Sinai	\N	f	f
778974	96	G6PD	Munich	\N	f	f
778718	96	G6PD	Murcia Oristano	\N	f	f
778704	96	G6PD	Musashino	\N	f	f
778716	96	G6PD	Namouru	\N	f	f
778788	96	G6PD	Nankang	\N	f	f
778828	96	G6PD	Nanning	\N	f	f
778784	96	G6PD	Naone	\N	f	f
778882	96	G6PD	Nara	\N	f	f
778948	96	G6PD	Nashville, Anaheim, Portici	\N	f	f
779024	96	G6PD	Neapolis	\N	f	f
779014	96	G6PD	Nice	\N	f	f
778808	96	G6PD	Nilgiri	\N	f	f
778668	96	G6PD	No name	\N	f	f
778824	96	G6PD	North Dallas	\N	f	f
778926	96	G6PD	Olomouc	\N	f	f
778876	96	G6PD	Omiya	\N	f	f
778684	96	G6PD	Orissa	\N	f	f
778866	96	G6PD	Osaka	\N	f	f
778694	96	G6PD	Palestrina	\N	f	f
778862	96	G6PD	Papua	\N	f	f
778904	96	G6PD	Partenope	\N	f	f
778986	96	G6PD	Pawnee	\N	f	f
778864	96	G6PD	Piotrkow	\N	f	f
778778	96	G6PD	Plymouth	\N	f	f
778942	96	G6PD	Praha	\N	f	f
778760	96	G6PD	Quing Yan	\N	f	f
778820	96	G6PD	Radlowo	\N	f	f
778886	96	G6PD	Rehevot	\N	f	f
778682	96	G6PD	Rignano	\N	f	f
778924	96	G6PD	Riley	\N	f	f
778968	96	G6PD	Riverside	\N	f	f
778838	96	G6PD	Roubaix	\N	f	f
778992	96	G6PD	S. Antioco	\N	f	f
778758	96	G6PD	Salerno Pyrgos	\N	f	f
778806	96	G6PD	Santiago	\N	f	f
778736	96	G6PD	Sao Borja	\N	f	f
778856	96	G6PD	Seattle, Lodi, Modena, Ferrara II, Athens-like	\N	f	f
778874	96	G6PD	Seoul	\N	f	f
778910	96	G6PD	Serres	\N	f	f
778772	96	G6PD	Shenzen	\N	f	f
778792	96	G6PD	Shinshu	\N	f	f
778812	96	G6PD	Sibari	\N	f	f
778730	96	G6PD	Sierra Leone	\N	f	f
778670	96	G6PD	Sinnai	\N	f	f
778706	96	G6PD	Songklanagarind	\N	f	f
779028	96	G6PD	Split	\N	f	f
778832	96	G6PD	Stonybrook	\N	f	f
778846	96	G6PD	Sugao	\N	f	f
778982	96	G6PD	Sumare	\N	f	f
778678	96	G6PD	Sunderland	\N	f	f
778980	96	G6PD	Surabaya	\N	f	f
778966	96	G6PD	Suwalki	\N	f	f
778720	96	G6PD	Swansea	\N	f	f
3564276	37	G6PD	Telti, Kobe	\N	f	f
778918	96	G6PD	Tenri	\N	f	f
778976	96	G6PD	Tokyo, Fukushima	\N	f	f
778782	96	G6PD	Toledo	\N	f	f
778928	96	G6PD	Tomah	\N	f	f
778912	96	G6PD	Tondela	\N	f	f
778898	96	G6PD	Torun	\N	f	f
778798	96	G6PD	Tsukui	\N	f	f
778722	96	G6PD	Ube Konan	\N	f	f
779000	96	G6PD	Union,Maewo, Chinese-2, Kalo	\N	f	f
778728	96	G6PD	Urayasu	\N	f	f
778964	96	G6PD	Utrecht	\N	f	f
778764	96	G6PD	Valladolid	\N	f	f
778732	96	G6PD	Vancouver	\N	f	f
778756	96	G6PD	Vanua Lava	\N	f	f
778870	96	G6PD	Viangchan, Jammu	\N	f	f
778892	96	G6PD	Villeurbanne	\N	f	f
778786	96	G6PD	Volendam	\N	f	f
778834	96	G6PD	Wayne	\N	f	f
778850	96	G6PD	Wexham	\N	f	f
778960	96	G6PD	Clinic	\N	f	f
778804	96	G6PD	Coimbra Shunde	\N	f	f
779010	96	G6PD	Cosenza	\N	f	f
778698	96	G6PD	Costanzo	\N	f	f
778958	96	G6PD	Covao do Lobo	\N	f	f
778740	96	G6PD	Crispim	\N	f	f
779200	96	RYR1	c.7048G>A	\N	f	f
3685608	35	RYR1	c.7060G>A	\N	f	f
3685612	35	RYR1	c.7073T>A	\N	f	f
3685614	35	RYR1	c.7076G>A	\N	f	f
3685616	35	RYR1	c.7075C>T	\N	f	f
3685618	35	RYR1	c.7084G>A	\N	f	f
779198	96	RYR1	c.7042_7044delGAG	\N	f	f
3685604	35	RYR1	c.7043A>G	\N	f	f
3685620	35	RYR1	c.7085A>G	\N	f	f
3685622	35	RYR1	c.7089C>G	\N	f	f
3685624	35	RYR1	c.7090T>G	\N	f	f
3685626	35	RYR1	c.7097C>G	\N	f	f
3685628	35	RYR1	c.7099G>A	\N	f	f
3685630	35	RYR1	c.7112A>G	\N	f	f
3685632	35	RYR1	c.7123G>A	\N	f	f
779204	96	RYR1	c.7124G>C	\N	f	f
3685636	35	RYR1	c.7199A>G	\N	f	f
3685638	35	RYR1	c.7210G>A	\N	f	f
3685642	35	RYR1	c.7291G>A	\N	f	f
3685644	35	RYR1	c.7291G>T	\N	f	f
779208	96	RYR1	c.7300G>A	\N	f	f
779210	96	RYR1	c.7304G>A	\N	f	f
3685652	35	RYR1	c.7304G>T	\N	f	f
3685654	35	RYR1	c.7307G>A	\N	f	f
3685656	35	RYR1	c.7310C>T	\N	f	f
3685658	35	RYR1	c.7317G>C	\N	f	f
779212	96	RYR1	c.7354C>T	\N	f	f
3685662	35	RYR1	c.7355G>A	\N	f	f
3685664	35	RYR1	c.7355G>C	\N	f	f
3685666	35	RYR1	c.7358T>C	\N	f	f
779214	96	RYR1	c.7360C>T	\N	f	f
779216	96	RYR1	c.7361G>A	\N	f	f
779218	96	RYR1	c.7372C>T	\N	f	f
3685676	35	RYR1	c.7373G>T	\N	f	f
3685678	35	RYR1	c.7385C>T	\N	f	f
3685680	35	RYR1	c.7487C>T	\N	f	f
779222	96	RYR1	c.7522C>T	\N	f	f
779224	96	RYR1	c.7522C>G	\N	f	f
779226	96	RYR1	c.7523G>A	\N	f	f
3685688	35	RYR1	c.7528T>C	\N	f	f
3685690	35	RYR1	c.7760A>G	\N	f	f
3685692	35	RYR1	c.7771C>G	\N	f	f
3685696	35	RYR1	c.7777C>G	\N	f	f
3685698	35	RYR1	c.7778G>A	\N	f	f
3685700	35	RYR1	c.7787C>T	\N	f	f
3685702	35	RYR1	c.7816T>A	\N	f	f
3685706	35	RYR1	c.7879G>A	\N	f	f
3685708	35	RYR1	c.8005G>A	\N	f	f
3685710	35	RYR1	c.8026C>T	\N	f	f
3685712	35	RYR1	c.8054C>T	\N	f	f
3685714	35	RYR1	c.8188G>C	\N	f	f
3685716	35	RYR1	c.8189A>G	\N	f	f
3685718	35	RYR1	c.8198G>A	\N	f	f
3685720	35	RYR1	c.8290G>A	\N	f	f
3685722	35	RYR1	c.8327C>T	\N	f	f
3685724	35	RYR1	c.8360C>G	\N	f	f
3685728	35	RYR1	c.8527T>C	\N	f	f
3685730	35	RYR1	c.8600T>A	\N	f	f
3685732	35	RYR1	c.8638G>A	\N	f	f
3685736	35	RYR1	c.8729C>T	\N	f	f
3685738	35	RYR1	c.8926C>T	\N	f	f
3685740	35	RYR1	c.9152G>A	\N	f	f
3685742	35	RYR1	c.9268G>A	\N	f	f
779228	96	RYR1	c.9310G>A	\N	f	f
3685746	35	RYR1	c.9356G>A	\N	f	f
3685748	35	RYR1	c.9499C>T	\N	f	f
3685750	35	RYR1	c.9635A>G	\N	f	f
3685752	35	RYR1	c.9649T>C	\N	f	f
3685754	35	RYR1	c.9652G>A	\N	f	f
3685756	35	RYR1	c.9676G>C	\N	f	f
3685760	35	RYR1	c.9797T>C	\N	f	f
3685762	35	RYR1	c.9848G>A	\N	f	f
3685766	35	RYR1	c.9868G>A	\N	f	f
3685768	35	RYR1	c.10042C>T	\N	f	f
3685770	35	RYR1	c.10043G>A	\N	f	f
3685772	35	RYR1	c.10097G>A	\N	f	f
3685774	35	RYR1	c.10100A>G	\N	f	f
3685776	35	RYR1	c.10229C>A	\N	f	f
3685778	35	RYR1	c.10237A>T	\N	f	f
3685780	35	RYR1	c.10252A>G	\N	f	f
3685782	35	RYR1	c.10556C>T	\N	f	f
3685784	35	RYR1	c.10616G>A	\N	f	f
3685786	35	RYR1	c.10747G>C	\N	f	f
3685788	35	RYR1	c.10750G>C	\N	f	f
3685792	35	RYR1	c.11086G>C	\N	f	f
3685796	35	RYR1	c.11126C>T	\N	f	f
3685798	35	RYR1	c.11132C>T	\N	f	f
3685800	35	RYR1	c.11266C>G	\N	f	f
3685802	35	RYR1	c.11315G>A	\N	f	f
3685804	35	RYR1	c.11314C>T	\N	f	f
3685806	35	RYR1	c.11416G>A	\N	f	f
3685808	35	RYR1	c.11518G>A	\N	f	f
3685810	35	RYR1	c.11708G>A	\N	f	f
3685812	35	RYR1	c.11723A>T	\N	f	f
3685814	35	RYR1	c.11748T>G	\N	f	f
3685816	35	RYR1	c.11798A>G	\N	f	f
3685818	35	RYR1	c.11813G>A	\N	f	f
3685820	35	RYR1	c.11947C>T	\N	f	f
779230	96	RYR1	c.11969G>T	\N	f	f
3685828	35	RYR1	c.12028G>A	\N	f	f
3685830	35	RYR1	c.12064A>G	\N	f	f
3685832	35	RYR1	c.12115A>T	\N	f	f
3685834	35	RYR1	c.12121C>T	\N	f	f
3685836	35	RYR1	c.12149C>A	\N	f	f
3685838	35	RYR1	c.12242C>T	\N	f	f
3685840	35	RYR1	c.12310G>C	\N	f	f
3685842	35	RYR1	c.12355A>T	\N	f	f
3685844	35	RYR1	c.12383C>T	\N	f	f
3685846	35	RYR1	c.12398A>G	\N	f	f
3685848	35	RYR1	c.12406C>A	\N	f	f
3685850	35	RYR1	c.12413T>C	\N	f	f
3685852	35	RYR1	c.12532G>A	\N	f	f
3685858	35	RYR1	c.12689T>G	\N	f	f
3685860	35	RYR1	c.12700G>C	\N	f	f
3685862	35	RYR1	c.12700G>T	\N	f	f
3685864	35	RYR1	c.12848A>T	\N	f	f
3685866	35	RYR1	c.12881C>T	\N	f	f
3685868	35	RYR1	c.12884C>T	\N	f	f
3685870	35	RYR1	c.13505A>G	\N	f	f
3685872	35	RYR1	c.13513G>C	\N	f	f
778946	96	G6PD	Wisconsin	\N	f	f
779020	96	G6PD	Yunan	\N	f	f
3685594	35	RYR1	c.7025A>G	\N	f	f
3685596	35	RYR1	c.7032G>C	\N	f	f
3685598	35	RYR1	c.7035C>A	\N	f	f
3685600	35	RYR1	c.7036G>A	\N	f	f
\.


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